abnormal cell morphology - Ontology Report

PMID:21750036 PMID:25251415

NCBI chr12:71,183,622...71,356,273
Ensembl chr12:71,183,622...71,290,077

Aatf

apoptosis antagonizing transcription factor

PMID:11071758

NCBI chr11:84,313,682...84,404,433
Ensembl chr11:84,313,681...84,404,348

Abcd3

ATP-binding cassette, sub-family D (ALD), member 3

PMID:25168382

NCBI chr 3:121,552,553...121,609,851
Ensembl chr 3:121,552,423...121,608,951

Ahi1

Abelson helper integration site 1

PMID:19625297

NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328

Arhgap1

Rho GTPase activating protein 1

PMID:16157885

NCBI chr 2:91,480,463...91,502,670
Ensembl chr 2:91,480,205...91,502,671

Arhgap35

Rho GTPase activating protein 35

PMID:26859289

NCBI chr 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918

Arpc3

actin related protein 2/3 complex, subunit 3

PMID:16880528

NCBI chr 5:122,529,941...122,544,244
Ensembl chr 5:122,529,941...122,552,247

Arsb

arylsulfatase B

PMID:8710849 PMID:12904606

NCBI chr13:93,908,187...94,079,524
Ensembl chr13:93,908,138...94,079,524

Atat1

alpha tubulin acetyltransferase 1

PMID:23748901

NCBI chr17:36,208,487...36,220,971
Ensembl chr17:36,208,487...36,220,967

autophagy related 7

NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575

Atp2c1

ATPase, Ca++-sequestering

PMID:17597066

NCBI chr 9:105,288,561...105,398,456
Ensembl chr 9:105,280,738...105,404,518

Atp7a

ATPase, Cu++ transporting, alpha polypeptide

PMID:20889

NCBI chr X:105,070,830...105,171,766
Ensembl chr X:105,070,882...105,168,532

ataxin 2-like

NCBI chr 7:126,090,880...126,106,991
Ensembl chr 7:126,090,880...126,102,609

aurora kinase B

NCBI chr11:68,936,450...68,942,490
Ensembl chr11:68,936,473...68,942,490

Bcar1

breast cancer anti-estrogen resistance 1

PMID:9697697

NCBI chr 8:112,437,106...112,470,481
Ensembl chr 8:112,437,106...112,470,441

Blm

Bloom syndrome, RecQ like helicase

PMID:9808625

NCBI chr 7:80,104,741...80,184,896
Ensembl chr 7:80,104,481...80,184,867

Braf

Braf transforming gene

PMID:21383153

NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397

breast cancer 1, early onset

NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781

Brk1

BRICK1, SCAR/WAVE actin-nucleating complex subunit

PMID:20861187

NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912

Btrc

beta-transducin repeat containing protein

PMID:12843402

NCBI chr19:45,352,119...45,521,782
Ensembl chr19:45,352,173...45,518,452

Cav1

caveolin 1, caveolae protein

PMID:17517963

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

Cc2d1a

coiled-coil and C2 domain containing 1A

PMID:26720614

NCBI chr 8:84,859,457...84,874,546
Ensembl chr 8:84,859,457...84,874,565

cyclin E1

NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959

Ccp110

centriolar coiled coil protein 110

PMID:26965371

NCBI chr 7:118,311,740...118,336,247
Ensembl chr 7:118,311,775...118,336,247

CD44 antigen

NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010

Cdc42

cell division cycle 42

PMID:10898977

NCBI chr 4:137,047,007...137,085,070
Ensembl chr 4:137,047,007...137,085,031

Cdkn1a

cyclin dependent kinase inhibitor 1A (P21)

PMID:16023597

NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701

Cep120

centrosomal protein 120

PMID:25251415

NCBI chr18:53,814,795...53,877,825
Ensembl chr18:53,814,795...53,877,680

Cep290

centrosomal protein 290

PMID:24051377

NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702

Cep57

centrosomal protein 57

PMID:30035751

NCBI chr 9:13,717,979...13,738,698
Ensembl chr 9:13,719,088...13,738,403

Cfap157

cilia and flagella associated protein 157

PMID:27965440

NCBI chr 2:32,667,425...32,674,417
Ensembl chr 2:32,667,393...32,674,440

Chmp5

charged multivesicular body protein 5

PMID:16567502

NCBI chr 4:40,948,553...40,965,302
Ensembl chr 4:40,948,407...40,965,303

Clip2

CAP-GLY domain containing linker protein 2

PMID:12195424

NCBI chr 5:134,518,237...134,582,922
Ensembl chr 5:134,518,237...134,581,288

Cluap1

clusterin associated protein 1

PMID:23742838

NCBI chr16:3,725,058...3,760,163
Ensembl chr16:3,726,665...3,759,011

Col10a1

collagen, type X, alpha 1

PMID:19834559

NCBI chr10:34,265,977...34,273,081
Ensembl chr10:34,265,977...34,273,081

cortactin

NCBI chr 7:143,989,468...144,024,743
Ensembl chr 7:143,989,470...144,024,746

Dapk1

death associated protein kinase 1

PMID:18806755

NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005

Ddit4

DNA-damage-inducible transcript 4

PMID:15988001

NCBI chr10:59,785,497...59,787,592
Ensembl chr10:59,785,491...59,787,656

Dkc1

dyskeratosis congenita 1, dyskerin

PMID:12522253

NCBI chr X:74,139,460...74,153,382
Ensembl chr X:74,139,460...74,153,383

dynamin 1-like

NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823

dymeclin

NCBI chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035

Dync2h1

dynein cytoplasmic 2 heavy chain 1

PMID:18488998

NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446

Dzip1

DAZ interacting protein 1

PMID:23955340

NCBI chr14:119,112,927...119,162,947
Ensembl chr14:119,112,932...119,162,872

Ehhadh

enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase

PMID:10336479

NCBI chr16:21,580,035...21,606,589
Ensembl chr16:21,580,037...21,606,557

Extl2

exostosin-like glycosyltransferase 2

PMID:23395820

NCBI chr 3:115,801,083...115,822,666
Ensembl chr 3:115,801,111...115,822,666

Fkbp10

FK506 binding protein 10

PMID:24777781

NCBI chr11:100,306,520...100,315,666
Ensembl chr11:100,306,523...100,315,650

flotillin 2

NCBI chr11:77,928,757...77,951,260
Ensembl chr11:77,928,757...77,951,260

Fntb

farnesyltransferase, CAAX box, beta

PMID:20308544

NCBI chr12:76,884,014...76,968,188
Ensembl chr12:76,812,363...76,968,186

Fuz

fuzzy planar cell polarity protein

PMID:19877275

NCBI chr 7:44,545,517...44,552,053
Ensembl chr 7:44,545,503...44,552,055

Gan

giant axonal neuropathy

PMID:16303566

NCBI chr 8:117,884,720...117,932,573
Ensembl chr 8:117,884,874...117,942,736

Gcn1

GCN1 activator of EIF2AK4

PMID:32324833

NCBI chr 5:115,703,177...115,760,713
Ensembl chr 5:115,703,313...115,760,713

Gfra1

glial cell line derived neurotrophic factor family receptor alpha 1

PMID:17507417

NCBI chr19:58,224,013...58,444,387
Ensembl chr19:58,224,036...58,444,341

galactosidase, alpha

NCBI chr X:133,488,912...133,501,707
Ensembl chr X:133,488,898...133,501,874

Gnptab

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

PMID:26857995

NCBI chr10:88,214,996...88,283,186
Ensembl chr10:88,214,994...88,283,191

Gpx1

glutathione peroxidase 1

PMID:14732290

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

gene trap ROSA 26, Philippe Soriano

PMID:24062412 PMID:25770585

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

glucuronidase, beta

NCBI chr 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890

Hmbox1

homeobox containing 1

PMID:23685356

NCBI chr14:65,049,049...65,187,354
Ensembl chr14:65,049,049...65,187,320

Ift122

intraflagellar transport 122

PMID:19000668 PMID:21209331

NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660

Ift172

intraflagellar transport 172

PMID:18488998 PMID:21653639

NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460

Inpp5e

inositol polyphosphate-5-phosphatase E

PMID:19668215

NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215

Intu

inturned planar cell polarity protein

PMID:20067783 PMID:25774014

NCBI chr 3:40,585,559...40,659,206
Ensembl chr 3:40,585,435...40,659,204

Itgb1

integrin beta 1 (fibronectin receptor beta)

PMID:17541405

NCBI chr 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681

Itsn1

intersectin 1 (SH3 domain protein 1A)

PMID:18676989

NCBI chr16:91,526,198...91,717,479
Ensembl chr16:91,526,169...91,717,485

Katnb1

katanin p80 (WD40-containing) subunit B 1

PMID:25521379

NCBI chr 8:95,807,804...95,826,502
Ensembl chr 8:95,807,814...95,829,777

Kirsten rat sarcoma viral oncogene homolog

PMID:17476360

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

Lats2

large tumor suppressor 2

PMID:17478426

NCBI chr14:57,927,119...57,983,669
Ensembl chr14:57,927,119...57,995,845
Ensembl chr14:57,927,119...57,995,845

Mbd4

methyl-CpG binding domain protein 4

PMID:19000668

NCBI chr 6:115,817,658...115,830,361
Ensembl chr 6:115,817,658...115,830,332

Mia3

MIA SH3 domain ER export factor 3

PMID:21606205

NCBI chr 1:183,107,091...183,151,091
Ensembl chr 1:183,107,682...183,150,894

Mks1

MKS transition zone complex subunit 1

PMID:19776033 PMID:23454480

NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629

Mrps34

mitochondrial ribosomal protein S34

PMID:25816300

NCBI chr17:25,114,094...25,115,263
Ensembl chr17:25,114,090...25,116,476

Mtor

mechanistic target of rapamycin kinase

PMID:22193387

NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140

Mtss1

MTSS I-BAR domain containing 1

PMID:21695258

NCBI chr15:58,813,083...58,955,805
Ensembl chr15:58,813,083...58,953,854

Mtus1

mitochondrial tumor suppressor 1

PMID:22200760

NCBI chr 8:41,443,949...41,587,318
Ensembl chr 8:41,443,951...41,586,763

Myh9

myosin, heavy polypeptide 9, non-muscle

PMID:20679233

NCBI chr15:77,644,785...77,726,375
Ensembl chr15:77,644,787...77,726,375

Nckipsd

NCK interacting protein with SH3 domain

PMID:19778379

NCBI chr 9:108,685,515...108,696,038
Ensembl chr 9:108,685,567...108,696,043

nitrilase 1

NCBI chr 1:171,168,139...171,173,224
Ensembl chr 1:171,165,576...171,173,214

notchless homolog 1

NCBI chr11:82,791,594...82,799,272
Ensembl chr11:82,791,594...82,799,237

Odf2

outer dense fiber of sperm tails 2

PMID:22265411

NCBI chr 2:29,779,026...29,821,758
Ensembl chr 2:29,779,233...29,821,758

Opa1

OPA1, mitochondrial dynamin like GTPase

PMID:17428816

NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702

P4ha1

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide

PMID:17135260

NCBI chr10:59,159,019...59,209,126
Ensembl chr10:59,159,118...59,209,126

Parp1

poly (ADP-ribose) polymerase family, member 1

NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819

Pdss2

prenyl (solanesyl) diphosphate synthase, subunit 2

PMID:21871565

NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878

Pex11a

peroxisomal biogenesis factor 11 alpha

PMID:12417726 PMID:23169785

NCBI chr 7:79,385,705...79,392,879
Ensembl chr 7:79,385,705...79,392,879

Pex11b

peroxisomal biogenesis factor 11 beta

PMID:12024045 PMID:12417726

NCBI chr 3:96,542,673...96,552,697
Ensembl chr 3:96,542,692...96,552,682

Pex13

peroxisomal biogenesis factor 13

PMID:12897163

NCBI chr11:23,597,283...23,615,883
Ensembl chr11:23,596,479...23,615,959

Pex5

peroxisomal biogenesis factor 5

PMID:15732085

NCBI chr 6:124,373,774...124,392,878
Ensembl chr 6:124,373,775...124,392,026

Pggt1b

protein geranylgeranyltransferase type I, beta subunit

PMID:17476360

NCBI chr18:46,368,411...46,414,173
Ensembl chr18:46,368,418...46,414,060

Pifo

primary cilia formation

PMID:20643351

NCBI chr 3:105,904,273...105,921,962
Ensembl chr 3:105,904,273...105,921,962

Pik3c3

phosphatidylinositol 3-kinase catalytic subunit type 3

PMID:22308354

NCBI chr18:30,390,441...30,481,179
Ensembl chr18:30,405,800...30,481,179

Pikfyve

phosphoinositide kinase, FYVE type zinc finger containing

PMID:21349843

NCBI chr 1:65,225,796...65,317,855
Ensembl chr 1:65,225,842...65,317,854

plectin

NCBI chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774

Plekha5

pleckstrin homology domain containing, family A member 5

PMID:22829911

NCBI chr 6:140,369,358...140,542,836
Ensembl chr 6:140,369,780...140,542,836

Plod3

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3

PMID:15377789

NCBI chr 5:137,015,873...137,025,500
Ensembl chr 5:137,015,873...137,025,502

Ppp1r13l

protein phosphatase 1, regulatory subunit 13 like

PMID:21930934

NCBI chr 7:19,093,639...19,112,465
Ensembl chr 7:19,093,674...19,112,458

Ppp4c

protein phosphatase 4, catalytic subunit

PMID:18347064

NCBI chr 7:126,385,038...126,391,729
Ensembl chr 7:126,385,038...126,391,668

Ppp5c

protein phosphatase 5, catalytic subunit

PMID:21921034

NCBI chr 7:16,738,575...16,761,812
Ensembl chr 7:16,738,565...16,761,849

Prkar1a

protein kinase, cAMP dependent regulatory, type I, alpha

PMID:12004056

NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482

Prkci

protein kinase C, iota

PMID:15322187 PMID:23690951

NCBI chr 3:31,049,893...31,106,889
Ensembl chr 3:31,049,896...31,107,108

Prkdc

protein kinase, DNA activated, catalytic polypeptide

PMID:12897131

NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099

Ptk2

PTK2 protein tyrosine kinase 2

PMID:7566154

NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129

Rab10

RAB10, member RAS oncogene family

PMID:25860786

NCBI chr12:3,297,428...3,359,969
Ensembl chr12:3,297,428...3,359,969

Rad54l

RAD54 like (S. cerevisiae)

PMID:12897131

NCBI chr 4:115,951,458...115,980,897
Ensembl chr 4:115,951,461...115,980,887

Rasl10b

RAS-like, family 10, member B

PMID:17984325

NCBI chr11:83,299,963...83,311,865
Ensembl chr11:83,299,963...83,311,865

Rhoc

ras homolog family member C

PMID:16107613

NCBI chr 3:104,696,350...104,701,775
Ensembl chr 3:104,695,691...104,701,775

Rnaseh2b

ribonuclease H2, subunit B

PMID:22579044

NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441

Rps6

ribosomal protein S6

PMID:10856218 PMID:16166381

NCBI chr 4:86,772,336...86,775,604
Ensembl chr 4:86,772,897...86,775,649

Sel1l

sel-1 suppressor of lin-12-like (C. elegans)

PMID:24453213

NCBI chr12:91,772,817...91,815,931
Ensembl chr12:91,772,817...91,815,931

Setdb1

SET domain, bifurcated 1

PMID:20014010

NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513

Sgsh

N-sulfoglucosamine sulfohydrolase (sulfamidase)

PMID:10561464

NCBI chr11:119,234,315...119,246,336
Ensembl chr11:119,234,251...119,246,362

Shc1

src homology 2 domain-containing transforming protein C1

PMID:10809671

NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334

Slc17a5

solute carrier family 17 (anion/sugar transporter), member 5

NCBI chr 9:78,443,769...78,495,346
Ensembl chr 9:78,443,770...78,495,323

Slc3a2

solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2

PMID:17682053

NCBI chr19:8,684,931...8,700,733
Ensembl chr19:8,684,246...8,700,733

SMAD family member 1

NCBI chr 8:80,065,024...80,126,057
Ensembl chr 8:80,065,024...80,126,147

SMAD family member 2

NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034

SMAD family member 3

NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276

Smg6

SMG6 nonsense mediated mRNA decay factor

PMID:25770585

NCBI chr11:74,816,665...75,055,274
Ensembl chr11:74,816,649...75,055,274

spartin

NCBI chr 3:55,019,500...55,044,753
Ensembl chr 3:55,019,529...55,044,743

Speer6-ps1

spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1

PMID:15732085 PMID:16382155

NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317
Ensembl chr13:3,236,206...3,239,317

Stat3

signal transducer and activator of transcription 3

PMID:20215508

NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366

stonin 1

NCBI chr17:88,905,043...88,955,293
Ensembl chr17:88,905,112...88,970,014

Stxbp2

syntaxin binding protein 2

NCBI chr 8:3,680,960...3,693,998
Ensembl chr 8:3,680,955...3,693,644

sulfatase 1

NCBI chr 1:12,762,421...12,946,090
Ensembl chr 1:12,762,501...12,931,416

sulfatase 2

NCBI chr 2:165,915,819...165,997,603
Ensembl chr 2:165,915,009...165,997,583

Tbc1d20

TBC1 domain family, member 20

PMID:24239381

NCBI chr 2:152,135,745...152,155,914
Ensembl chr 2:152,135,748...152,155,916

Tdrd6

tudor domain containing 6

PMID:19345099

NCBI chr17:43,926,225...43,942,737
Ensembl chr17:43,926,226...43,941,190

Tmed10

transmembrane p24 trafficking protein 10

PMID:10660306

NCBI chr12:85,387,388...85,421,491
Ensembl chr12:85,387,388...85,421,621

Tmem107

transmembrane protein 107

PMID:22698544

NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119

Tmem127

transmembrane protein 127

PMID:24334765

NCBI chr 2:127,089,868...127,103,028
Ensembl chr 2:127,089,828...127,103,027

Tmem67

transmembrane protein 67

PMID:23283079

NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020

Trip11

thyroid hormone receptor interactor 11

PMID:19112494

NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526

Trp53inp1

transformation related protein 53 inducible nuclear protein 1

PMID:25828351

NCBI chr 4:11,156,441...11,174,379
Ensembl chr 4:11,156,431...11,174,379

Ttbk2

tau tubulin kinase 2

PMID:23141541 PMID:30532139

NCBI chr 2:120,563,297...120,681,111
Ensembl chr 2:120,563,297...120,681,085

tyrosinase

NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720

Usp10

ubiquitin specific peptidase 10

PMID:23230274

NCBI chr 8:120,637,099...120,684,299
Ensembl chr 8:120,637,099...120,684,299

Vac14

Vac14 homolog (S. cerevisiae)

PMID:17956977

NCBI chr 8:111,345,161...111,447,030
Ensembl chr 8:111,345,217...111,447,030

Vhl

von Hippel-Lindau tumor suppressor

PMID:23541568

NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594

vimentin

NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637

Vps25

vacuolar protein sorting 25

PMID:25373905

NCBI chr11:101,144,533...101,150,377
Ensembl chr11:101,144,533...101,150,375

Vps4a

vacuolar protein sorting 4A

PMID:26720614

NCBI chr 8:107,757,901...107,772,392
Ensembl chr 8:107,757,854...107,772,387

Vps4b

vacuolar protein sorting 4B

PMID:26720614

NCBI chr 1:106,698,518...106,724,455
Ensembl chr 1:106,691,801...106,724,458

Vps54

VPS54 GARP complex subunit

PMID:1117319

NCBI chr11:21,189,032...21,271,133
Ensembl chr11:21,189,281...21,271,136

Wdpcp

WD repeat containing planar cell polarity effector

PMID:24302887

NCBI chr11:21,521,969...21,848,686
Ensembl chr11:21,522,235...21,848,989

WD repeat domain 19

NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758

Wee1

WEE 1 homolog 1 (S. pombe)

PMID:16810330

NCBI chr 7:109,721,266...109,742,506
Ensembl chr 7:109,721,253...109,742,493

Y box protein 1

NCBI chr 4:119,134,524...119,153,462
Ensembl chr 4:119,135,178...119,151,801

zyxin

NCBI chr 6:42,326,507...42,337,158
Ensembl chr 6:42,326,564...42,337,147

abnormal acroplaxome morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Agfg1

ArfGAP with FG repeats 1

PMID:14724135

NCBI chr 1:82,816,738...82,878,722
Ensembl chr 1:82,817,204...82,878,903

Fads2

fatty acid desaturase 2

PMID:21653892

NCBI chr19:10,040,129...10,078,867
Ensembl chr19:10,040,129...10,079,110

Hipk4

homeodomain interacting protein kinase 4

PMID:32163033

NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600

Spata46

spermatogenesis associated 46

PMID:27488028

NCBI chr 1:170,136,388...170,139,694
Ensembl chr 1:170,136,372...170,139,694

vacuolar protein sorting 13B

NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375

abnormal acrosome assembly

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Acrbp

proacrosin binding protein

PMID:27303034

NCBI chr 6:125,026,890...125,040,228
Ensembl chr 6:125,026,652...125,040,230

actin-like 9

NCBI chr17:33,651,873...33,653,242
Ensembl chr17:33,651,870...33,653,242

Alpl

alkaline phosphatase, liver/bone/kidney

PMID:24853953

NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695

autophagy related 5

NCBI chr10:44,144,325...44,240,295
Ensembl chr10:44,144,354...44,240,287

autophagy related 7

NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575

AU040320

expressed sequence AU040320

PMID:29991750

NCBI chr 4:126,647,331...126,763,487
Ensembl chr 4:126,647,337...126,763,863

Brdt

bromodomain, testis-specific

PMID:17728347

NCBI chr 5:107,478,982...107,534,927
Ensembl chr 5:107,479,025...107,534,924

Ccdc87

coiled-coil domain containing 87

PMID:29733332

NCBI chr19:4,889,394...4,892,556
Ensembl chr19:4,889,394...4,892,556

centrin 1

NCBI chr18:9,618,419...9,619,469
Ensembl chr18:9,615,524...9,619,478

Cfap65

cilia and flagella associated protein 65

PMID:34231842

NCBI chr 1:74,941,230...74,974,785
Ensembl chr 1:74,941,230...74,974,758

Cops5

COP9 signalosome subunit 5

PMID:31373619

NCBI chr 1:10,094,825...10,108,384
Ensembl chr 1:10,094,826...10,108,393

Cyp19a1

cytochrome P450, family 19, subfamily a, polypeptide 1

PMID:10393934

NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394

Dcaf17

DDB1 and CUL4 associated factor 17

PMID:29907856

NCBI chr 2:70,886,086...70,946,796
Ensembl chr 2:70,885,672...70,929,486

Fads2

fatty acid desaturase 2

PMID:21653892

NCBI chr19:10,040,129...10,078,867
Ensembl chr19:10,040,129...10,079,110

Galnt3

polypeptide N-acetylgalactosaminyltransferase 3

PMID:23052838

NCBI chr 2:65,913,110...65,955,217
Ensembl chr 2:65,913,110...65,955,338

Ggnbp2

gametogenetin binding protein 2

PMID:28823874

NCBI chr11:84,723,187...84,761,668
Ensembl chr11:84,723,187...84,761,643

golgin A2

NCBI chr 2:32,178,299...32,197,925
Ensembl chr 2:32,177,396...32,197,933

Kdm3a

lysine (K)-specific demethylase 3A

PMID:17943087

NCBI chr 6:71,565,954...71,609,963
Ensembl chr 6:71,565,956...71,609,974

Pcsk4

proprotein convertase subtilisin/kexin type 4

PMID:22357636

NCBI chr10:80,157,117...80,165,583
Ensembl chr10:80,157,117...80,165,332

profilin 3

NCBI chr13:55,562,501...55,563,045
Ensembl chr13:55,562,501...55,563,045

Pfn4

profilin family, member 4

PMID:35950913

NCBI chr12:4,819,010...4,828,813
Ensembl chr12:4,819,022...4,828,813

Rfx2

regulatory factor X, 2 (influences HLA class II expression)

PMID:26162102

NCBI chr17:57,082,897...57,138,102
Ensembl chr17:57,082,897...57,138,013

Sec23ip

Sec23 interacting protein

PMID:21640725

NCBI chr 7:128,346,586...128,386,560
Ensembl chr 7:128,346,667...128,386,560

septin 12

NCBI chr16:4,804,722...4,815,716
Ensembl chr16:4,804,722...4,815,716

Slc9a8

solute carrier family 9 (sodium/hydrogen exchanger), member 8

PMID:28476888

NCBI chr 2:167,261,678...167,318,920
Ensembl chr 2:167,263,632...167,318,920

small ArfGAP 2

NCBI chr 4:120,825,514...120,874,497
Ensembl chr 4:120,825,514...120,874,444

spastin

NCBI chr17:74,643,805...74,698,110
Ensembl chr17:74,645,982...74,698,110

Taf4b

TATA-box binding protein associated factor 4b

PMID:15774719

NCBI chr18:14,916,302...15,035,160
Ensembl chr18:14,916,302...15,033,416

abnormal acrosome morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Acrbp

proacrosin binding protein

PMID:27303034

NCBI chr 6:125,026,890...125,040,228
Ensembl chr 6:125,026,652...125,040,230

actin-like 7a

NCBI chr 4:56,743,422...56,744,925
Ensembl chr 4:56,743,413...56,744,925

actin-like 9

NCBI chr17:33,651,873...33,653,242
Ensembl chr17:33,651,870...33,653,242

Adad2

adenosine deaminase domain containing 2

PMID:36930220

NCBI chr 8:120,339,449...120,343,665
Ensembl chr 8:120,339,486...120,343,663

androglobin

NCBI chr10:10,211,447...10,350,837
Ensembl chr10:10,211,447...10,348,070

Agfg1

ArfGAP with FG repeats 1

PMID:14724135

NCBI chr 1:82,816,738...82,878,722
Ensembl chr 1:82,817,204...82,878,903

Alpl

alkaline phosphatase, liver/bone/kidney

PMID:24853953

NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695

Arl2bp

ADP-ribosylation factor-like 2 binding protein

PMID:31425546

NCBI chr 8:95,393,228...95,401,085
Ensembl chr 8:95,393,228...95,401,053

autophagy related 7

NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575

AU040320

expressed sequence AU040320

PMID:29991750

NCBI chr 4:126,647,331...126,763,487
Ensembl chr 4:126,647,337...126,763,863

aurora kinase C

NCBI chr 7:6,998,346...7,006,090
Ensembl chr 7:6,998,299...7,006,090

bestrophin 1

NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997

Brd7

bromodomain containing 7

PMID:26878912

NCBI chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822

Ccdc42

coiled-coil domain containing 42

PMID:26945718

NCBI chr11:68,477,863...68,488,777
Ensembl chr11:68,477,847...68,488,792

calicin

NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423

Cep70

centrosomal protein 70

PMID:33980814

NCBI chr 9:99,065,640...99,205,569
Ensembl chr 9:99,125,420...99,182,457

Cfap65

cilia and flagella associated protein 65

PMID:34231842

NCBI chr 1:74,941,230...74,974,785
Ensembl chr 1:74,941,230...74,974,758

Cfap69

cilia and flagella associated protein 69

PMID:30415212

NCBI chr 5:5,629,284...5,714,232
Ensembl chr 5:5,629,278...5,714,239

Csnk2a2

casein kinase 2, alpha prime polypeptide

PMID:12950107

NCBI chr 8:96,172,724...96,215,505
Ensembl chr 8:96,172,724...96,216,667

Dcaf17

DDB1 and CUL4 associated factor 17

PMID:29907856

NCBI chr 2:70,886,086...70,946,796
Ensembl chr 2:70,885,672...70,929,486

Dicer1

dicer 1, ribonuclease type III

PMID:21949761

NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211

Dlec1

deleted in lung and esophageal cancer 1

PMID:33144677

NCBI chr 9:118,927,720...118,977,314
Ensembl chr 9:118,931,546...118,977,314

Dpy19l2

dpy-19-like 2 (C. elegans)

PMID:22764053

NCBI chr 9:24,468,343...24,607,752
Ensembl chr 9:24,468,343...24,607,589

Ehd1

EH-domain containing 1

PMID:20359371

NCBI chr19:6,326,926...6,350,126
Ensembl chr19:6,326,755...6,350,126

Fam170a

family with sequence similarity 170, member A

PMID:32588889

NCBI chr18:50,411,436...50,416,087
Ensembl chr18:50,411,436...50,416,087

Fam209

family with sequence similarity 209

PMID:34471926

NCBI chr 2:172,314,474...172,316,236
Ensembl chr 2:172,314,440...172,316,251

Fhl5

four and a half LIM domains 5

PMID:15247423

NCBI chr 4:25,199,907...25,242,852
Ensembl chr 4:25,199,908...25,242,876

Galntl5

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5

PMID:24398516

NCBI chr 5:25,386,438...25,425,295
Ensembl chr 5:25,386,458...25,425,295

Garin1a

golgi associated RAB2 interactor 1A

PMID:34714330

NCBI chr 6:29,276,298...29,290,684
Ensembl chr 6:29,279,592...29,290,679

Garin1b

golgi associated RAB2 interactor 1B

PMID:34714330

NCBI chr 6:29,313,468...29,336,021
Ensembl chr 6:29,319,139...29,336,018

Ggnbp1

gametogenetin binding protein 1

PMID:32139124

NCBI chr17:27,237,009...27,255,352
Ensembl chr17:27,236,961...27,256,598

Ggnbp2

gametogenetin binding protein 2

PMID:28823874

NCBI chr11:84,723,187...84,761,668
Ensembl chr11:84,723,187...84,761,643

Gmcl1

germ cell-less, spermatogenesis associated 1

PMID:12556490

NCBI chr 6:86,668,750...86,710,377
Ensembl chr 6:86,668,750...86,710,365

Gopc

golgi associated PDZ and coiled-coil motif containing

PMID:12149515

NCBI chr10:52,213,120...52,258,220
Ensembl chr10:52,211,946...52,258,220

Gorasp2

golgi reassembly stacking protein 2

PMID:28617811

NCBI chr 2:70,491,520...70,522,069
Ensembl chr 2:70,491,920...70,542,980

Hadh

hydroxyacyl-Coenzyme A dehydrogenase

PMID:36398584

NCBI chr 3:131,027,068...131,065,750
Ensembl chr 3:131,027,068...131,065,750

Hipk4

homeodomain interacting protein kinase 4

PMID:32163033

NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600

Hsp90b1

heat shock protein 90, beta (Grp94), member 1

PMID:21208614

NCBI chr10:86,526,705...86,541,308
Ensembl chr10:86,526,073...86,541,373

Ica1

islet cell autoantigen 1

PMID:26306493

NCBI chr 6:8,630,527...8,778,531
Ensembl chr 6:8,630,527...8,778,488

Ica1l

islet cell autoantigen 1-like

PMID:26306493

NCBI chr 1:60,024,955...60,082,646
Ensembl chr 1:60,021,649...60,082,343

Ift172

intraflagellar transport 172

PMID:31958312

NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460

Ift81

intraflagellar transport 81

PMID:32233951

NCBI chr 5:122,678,328...122,752,614
Ensembl chr 5:122,688,267...122,752,581

Iqcn

IQ motif containing N

PMID:36321563

NCBI chr 8:71,154,661...71,170,299
Ensembl chr 8:71,156,106...71,170,299

Izumo3

IZUMO family member 3

PMID:34114279

NCBI chr 4:92,032,555...92,035,462
Ensembl chr 4:92,032,566...92,035,471

Kmt2e

lysine (K)-specific methyltransferase 2E

PMID:22069496

NCBI chr 5:23,638,034...23,709,233
Ensembl chr 5:23,639,439...23,709,233

Lrguk

leucine-rich repeats and guanylate kinase domain containing

PMID:25781171

NCBI chr 6:34,006,183...34,110,969
Ensembl chr 6:34,006,379...34,110,969

Mkrn2

makorin, ring finger protein, 2

PMID:28008940

NCBI chr 6:115,578,844...115,598,647
Ensembl chr 6:115,578,863...115,599,585

Nectin2

nectin cell adhesion molecule 2

PMID:10733589

NCBI chr 7:19,450,569...19,483,498
Ensembl chr 7:19,450,569...19,484,408

nucleoporin 210-like

NCBI chr 3:90,011,445...90,119,458
Ensembl chr 3:90,011,439...90,119,355

Oca2

oculocutaneous albinism II

PMID:5565073

NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266

Osbp2

oxysterol binding protein 2

PMID:24245814

NCBI chr11:3,653,731...3,814,000
Ensembl chr11:3,653,731...3,813,903

Pafah1b1

platelet-activating factor acetylhydrolase, isoform 1b, subunit 1

PMID:13129914

NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496

profilin 3

NCBI chr13:55,562,501...55,563,045
Ensembl chr13:55,562,501...55,563,045

Pfn4

profilin family, member 4

PMID:35950913

NCBI chr12:4,819,010...4,828,813
Ensembl chr12:4,819,022...4,828,813

Pick1

protein interacting with C kinase 1

PMID:19258705 PMID:26306493

NCBI chr15:79,113,373...79,133,666
Ensembl chr15:79,113,373...79,133,684

Pla2g3

phospholipase A2, group III

PMID:20424323

NCBI chr11:3,438,158...3,449,346
Ensembl chr11:3,438,284...3,449,350

Prnd

prion like protein doppel

PMID:12110578

NCBI chr 2:131,792,781...131,798,051
Ensembl chr 2:131,792,781...131,798,050

protease, serine 54

NCBI chr 8:96,285,694...96,302,965
Ensembl chr 8:96,285,697...96,302,968

Rfx2

regulatory factor X, 2 (influences HLA class II expression)

PMID:26162102 PMID:26853561

NCBI chr17:57,082,897...57,138,102
Ensembl chr17:57,082,897...57,138,013

Rxrb

retinoid X receptor beta

PMID:8557197

NCBI chr17:34,250,786...34,257,377
Ensembl chr17:34,250,786...34,257,373

septin 12

NCBI chr16:4,804,722...4,815,716
Ensembl chr16:4,804,722...4,815,716

small ArfGAP 2

NCBI chr 4:120,825,514...120,874,497
Ensembl chr 4:120,825,514...120,874,444

Spaca1

sperm acrosome associated 1

PMID:22949614

NCBI chr 4:34,024,872...34,050,067
Ensembl chr 4:34,024,874...34,050,191

Spag4

sperm associated antigen 4

PMID:29663073

NCBI chr 2:155,907,108...155,911,421
Ensembl chr 2:155,907,095...155,912,537

spastin

NCBI chr17:74,643,805...74,698,110
Ensembl chr17:74,645,982...74,698,110

Spesp1

sperm equatorial segment protein 1

PMID:20375058

NCBI chr 9:62,178,011...62,189,461
Ensembl chr 9:62,178,011...62,189,490

Sry

sex determining region of Chr Y

PMID:15020475

NCBI chr Y:2,662,471...2,663,658
Ensembl chr Y:2,662,471...2,663,658

Tbpl1

TATA box binding protein-like 1

PMID:11352070

NCBI chr10:22,579,776...22,607,890
Ensembl chr10:22,579,778...22,607,837

Tdrd5

tudor domain containing 5

PMID:21383078

NCBI chr 1:156,082,866...156,131,874
Ensembl chr 1:156,082,866...156,131,234

transition protein 2

NCBI chr16:10,605,799...10,606,519
Ensembl chr16:10,605,800...10,606,524

Tysnd1

trypsin domain containing 1

PMID:23459139

NCBI chr10:61,531,279...61,538,552
Ensembl chr10:61,531,293...61,538,552

Ube2j1

ubiquitin-conjugating enzyme E2J 1

PMID:25320092

NCBI chr 4:33,031,380...33,052,367
Ensembl chr 4:33,031,416...33,052,363

Zfp628

zinc finger protein 628

PMID:31932482

NCBI chr 7:4,918,181...4,925,002
Ensembl chr 7:4,918,216...4,925,001

Zpbp

zona pellucida binding protein

PMID:17664285

NCBI chr11:11,229,624...11,414,222
Ensembl chr11:11,229,626...11,412,408

Zpbp2

zona pellucida binding protein 2

PMID:17664285

NCBI chr11:98,441,923...98,449,491
Ensembl chr11:98,441,923...98,449,491

abnormal actin cytoskeleton morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abl1

c-abl oncogene 1, non-receptor tyrosine kinase

PMID:9883720

NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239

Abl2

v-abl Abelson murine leukemia viral oncogene 2 (arg, Abelson-related gene)

PMID:9883720

NCBI chr 1:156,386,160...156,477,189
Ensembl chr 1:156,386,356...156,477,138

Actmap

actin maturation protease

PMID:36173861

NCBI chr 7:26,894,973...26,909,611
Ensembl chr 7:26,895,206...26,909,611

Cav1

caveolin 1, caveolae protein

PMID:17517963

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

Col12a1

collagen, type XII, alpha 1

PMID:21670218

NCBI chr 9:79,506,269...79,628,423
Ensembl chr 9:79,506,273...79,626,113

coronin 7

NCBI chr16:4,444,748...4,497,584
Ensembl chr16:4,443,997...4,497,641

Csrp3

cysteine and glycine-rich protein 3

PMID:9039266

NCBI chr 7:48,480,146...48,497,799
Ensembl chr 7:48,480,146...48,497,781

Ctnnal1

catenin (cadherin associated protein), alpha-like 1

PMID:32258033

NCBI chr 4:56,810,935...56,865,370
Ensembl chr 4:56,810,935...56,865,188

Cyrib

CYFIP related Rac1 interactor B

PMID:31285585

NCBI chr15:63,800,943...63,932,627
Ensembl chr15:63,800,946...63,932,327

Elmod3

ELMO/CED-12 domain containing 3

PMID:31628468

NCBI chr 6:72,542,905...72,575,396
Ensembl chr 6:72,542,905...72,575,396

golgin A2

NCBI chr 2:32,178,299...32,197,925
Ensembl chr 2:32,177,396...32,197,933

Kif3a

kinesin family member 3A

PMID:17359961

NCBI chr11:53,456,531...53,495,075
Ensembl chr11:53,458,206...53,492,794

LIM domain kinase 1

NCBI chr 5:134,684,893...134,718,713
Ensembl chr 5:134,684,893...134,717,452

lysozyme 2

NCBI chr10:117,113,446...117,118,177
Ensembl chr10:117,113,236...117,118,226

Nckipsd

NCK interacting protein with SH3 domain

PMID:19302483

NCBI chr 9:108,685,515...108,696,038
Ensembl chr 9:108,685,567...108,696,043

Pak2

p21 (RAC1) activated kinase 2

PMID:30134165

NCBI chr16:31,835,108...31,898,160
Ensembl chr16:31,835,108...31,898,160

Pou1f1

POU domain, class 1, transcription factor 1

PMID:19176829

NCBI chr16:65,317,398...65,331,904
Ensembl chr16:65,317,397...65,331,891

Ripk4

receptor-interacting serine-threonine kinase 4

PMID:25430793

NCBI chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987

Rock2

Rho-associated coiled-coil containing protein kinase 2

PMID:18718479

NCBI chr12:16,944,808...17,038,275
Ensembl chr12:16,944,896...17,037,824

Shc1

src homology 2 domain-containing transforming protein C1

PMID:10809671

NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334

vacuolar protein sorting 13B

NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375

abnormal brain ependyma motile cilium location or orientation

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ccdc88c

coiled-coil domain containing 88C

PMID:32535020

NCBI chr12:100,877,778...100,995,610
Ensembl chr12:100,877,782...100,995,315

Cep164

centrosomal protein 164

PMID:29244804

NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989

centrin 2

NCBI chr X:71,957,137...71,961,967
Ensembl chr X:71,957,138...71,962,017

Dnaaf2

dynein, axonemal assembly factor 2

PMID:23525783

NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203

Jhy

junctional cadherin complex regulator

PMID:23906841

NCBI chr 9:40,806,147...40,877,560
Ensembl chr 9:40,806,145...40,875,414

Pdcd6ip

programmed cell death 6 interacting protein

PMID:27336173

NCBI chr 9:113,480,812...113,537,457
Ensembl chr 9:113,480,812...113,537,327

abnormal brain ependyma motile cilium morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Arl6

ADP-ribosylation factor-like 6

PMID:22139371

NCBI chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754

Bbs7

Bardet-Biedl syndrome 7 (human)

PMID:23572516

NCBI chr 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626

Ccdc39

coiled-coil domain containing 39

PMID:29317443

NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459

Ccp110

centriolar coiled coil protein 110

PMID:26965371

NCBI chr 7:118,311,740...118,336,247
Ensembl chr 7:118,311,775...118,336,247

Col18a1

collagen, type XVIII, alpha 1

PMID:15254016

NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382

Dnaaf2

dynein, axonemal assembly factor 2

PMID:23525783

NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203

Emx1

empty spiracles homeobox 1

PMID:22705452

NCBI chr 6:85,164,913...85,181,445
Ensembl chr 6:85,164,420...85,181,444

Hydin

HYDIN, axonemal central pair apparatus protein

PMID:18250199

NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885

Jhy

junctional cadherin complex regulator

PMID:23906841

NCBI chr 9:40,806,147...40,877,560
Ensembl chr 9:40,806,145...40,875,414

Kif6

kinesin family member 6

PMID:30475797

NCBI chr17:49,922,121...50,216,875
Ensembl chr17:49,922,164...50,216,875

Mcidas

multiciliate differentiation and DNA synthesis associated cell cycle protein

PMID:30877126

NCBI chr13:113,130,104...113,138,233
Ensembl chr13:113,130,379...113,136,928

Odf2

outer dense fiber of sperm tails 2

PMID:22265411

NCBI chr 2:29,779,026...29,821,758
Ensembl chr 2:29,779,233...29,821,758

Pdcd6ip

programmed cell death 6 interacting protein

PMID:27336173

NCBI chr 9:113,480,812...113,537,457
Ensembl chr 9:113,480,812...113,537,327

prefoldin 5

NCBI chr15:102,234,551...102,239,925
Ensembl chr15:102,234,551...102,240,308

Ptbp1

polypyrimidine tract binding protein 1

PMID:22705452

NCBI chr10:79,690,502...79,700,269
Ensembl chr10:79,690,261...79,700,605

Rfx4

regulatory factor X, 4 (influences HLA class II expression)

PMID:19887680

NCBI chr10:84,591,895...84,742,402
Ensembl chr10:84,591,926...84,742,402

Rsph9

radial spoke head 9 homolog (Chlamydomonas)

PMID:32709945

NCBI chr17:46,432,964...46,455,171
Ensembl chr17:46,432,961...46,455,142

Tmem67

transmembrane protein 67

PMID:23283079

NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020

unc-51-like kinase 4

NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263

Zmynd10

zinc finger, MYND domain containing 10

PMID:29601588

NCBI chr 9:107,424,067...107,428,520
Ensembl chr 9:107,424,497...107,428,518

abnormal Cajal body morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

coilin

NCBI chr11:88,864,761...88,882,439
Ensembl chr11:88,861,078...88,882,439

ZPR1 zinc finger

NCBI chr 9:46,184,362...46,193,941
Ensembl chr 9:46,184,362...46,193,941

abnormal cell cytoskeleton morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

androgen receptor

PMID:16400023

NCBI chr X:97,192,363...97,366,824
Ensembl chr X:97,192,375...97,366,821

Atp6ap2

ATPase, H+ transporting, lysosomal accessory protein 2

PMID:22034640

NCBI chr X:12,453,998...12,483,290
Ensembl chr X:12,454,040...12,483,288

Bfsp2

beaded filament structural protein 2, phakinin

PMID:12573667 PMID:14667833

NCBI chr 9:103,302,123...103,357,608
Ensembl chr 9:103,302,123...103,357,619

Cav1

caveolin 1, caveolae protein

PMID:21203469

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

crystallin, beta A1

NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109

golgin A2

NCBI chr 2:32,178,299...32,197,925
Ensembl chr 2:32,177,396...32,197,933

Gpsm2

G-protein signalling modulator 2 (AGS3-like, C. elegans)

PMID:24135232

NCBI chr 3:108,585,954...108,629,637
Ensembl chr 3:108,585,954...108,629,625

Ighmbp2

immunoglobulin mu DNA binding protein 2

PMID:15269181

NCBI chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017

plakophilin 2

NCBI chr16:16,031,209...16,090,576
Ensembl chr16:16,031,182...16,090,576

Pla2g6

phospholipase A2, group VI

PMID:21813701

NCBI chr15:79,170,428...79,212,915
Ensembl chr15:79,170,428...79,212,590

Rab18

RAB18, member RAS oncogene family

PMID:24764192

NCBI chr18:6,765,167...6,791,606
Ensembl chr18:6,733,905...6,794,429

Rptor

regulatory associated protein of MTOR, complex 1

PMID:29961810

NCBI chr11:119,493,731...119,790,417
Ensembl chr11:119,493,731...119,790,402

talin 1

NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691

talin 2

NCBI chr 9:67,124,371...67,541,357
Ensembl chr 9:67,124,369...67,466,985

abnormal cell mass

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Nsmce2

NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase

NCBI chr15:59,246,047...59,473,538
Ensembl chr15:59,246,096...59,473,533

abnormal cell nucleus count

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Birc5

baculoviral IAP repeat-containing 5

PMID:11084331

NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569

Cdk1

cyclin dependent kinase 1

PMID:22355113

NCBI chr10:69,170,976...69,188,742
Ensembl chr10:69,170,976...69,188,768

Noc3l

NOC3 like DNA replication regulator

PMID:23886952

NCBI chr19:38,776,565...38,808,754
Ensembl chr19:38,776,572...38,807,681

abnormal cell nucleus morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abraxas1

BRCA1 A complex subunit

PMID:25066119

NCBI chr 5:100,952,668...100,993,430
Ensembl chr 5:100,953,058...100,968,831

Acd

adrenocortical dysplasia

PMID:20493811

NCBI chr 8:106,424,789...106,427,748
Ensembl chr 8:106,422,492...106,427,734

Aurka

aurora kinase A

PMID:18345035 PMID:19075002

NCBI chr 2:172,198,110...172,212,820
Ensembl chr 2:172,198,110...172,212,455

aurora kinase B

NCBI chr11:68,936,450...68,942,490
Ensembl chr11:68,936,473...68,942,490

Birc5

baculoviral IAP repeat-containing 5

PMID:11084331

NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569

Bub1b

BUB1B, mitotic checkpoint serine/threonine kinase

PMID:23878276

NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072

Bub3

BUB3 mitotic checkpoint protein

PMID:10995385

NCBI chr 7:131,162,081...131,173,625
Ensembl chr 7:131,161,951...131,173,624

Cdc42

cell division cycle 42

PMID:23150167

NCBI chr 4:137,047,007...137,085,070
Ensembl chr 4:137,047,007...137,085,031

Cdca8

cell division cycle associated 8

PMID:18337066

NCBI chr 4:124,812,258...124,830,710
Ensembl chr 4:124,812,258...124,833,104

Cdk1

cyclin dependent kinase 1

PMID:22355113

NCBI chr10:69,170,976...69,188,742
Ensembl chr10:69,170,976...69,188,768

Cdk5rap2

CDK5 regulatory subunit associated protein 2

PMID:20627074

NCBI chr 4:70,135,092...70,328,672
Ensembl chr 4:70,135,093...70,328,680

centromere protein A

NCBI chr 5:30,824,214...30,832,181
Ensembl chr 5:30,824,121...30,832,174

Cenpc1

centromere protein C1

PMID:9448298

NCBI chr 5:86,159,877...86,214,325
Ensembl chr 5:86,159,883...86,213,442

Cep290

centrosomal protein 290

PMID:26301811

NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702

Chaf1a

chromatin assembly factor 1, subunit A (p150)

PMID:17083276

NCBI chr17:56,347,416...56,375,026
Ensembl chr17:56,347,439...56,379,289

Chchd10

coiled-coil-helix-coiled-coil-helix domain containing 10

PMID:30877432

NCBI chr10:75,768,964...75,773,584
Ensembl chr10:75,768,964...75,773,581

checkpoint kinase 1

NCBI chr 9:36,619,935...36,637,897
Ensembl chr 9:36,619,778...36,638,361

Dnase1l2

deoxyribonuclease 1-like 2

PMID:21307874

NCBI chr17:24,659,061...24,662,075
Ensembl chr17:24,659,055...24,662,079

Epb41l5

erythrocyte membrane protein band 4.1 like 5

PMID:17507402

NCBI chr 1:119,472,762...119,576,826
Ensembl chr 1:119,472,767...119,576,730

Ercc1

excision repair cross-complementing rodent repair deficiency, complementation group 1

PMID:8275084

NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449

Ercc6l

excision repair cross-complementing rodent repair deficiency complementation group 6 like

PMID:30232008

NCBI chr X:101,186,426...101,200,697
Ensembl chr X:101,185,322...101,200,697

Esco2

establishment of sister chromatid cohesion N-acetyltransferase 2

PMID:22101327

NCBI chr14:66,056,476...66,071,418
Ensembl chr14:66,056,487...66,071,443

Espl1

extra spindle pole bodies 1, separase

PMID:16533944 PMID:16533945

NCBI chr15:102,204,688...102,232,792
Ensembl chr15:102,204,701...102,232,792

Ewsr1

Ewing sarcoma breakpoint region 1

PMID:17415412

NCBI chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266

Fan1

FANCD2/FANCI-associated nuclease 1

PMID:26980189 PMID:32876667

NCBI chr 7:63,994,627...64,023,874
Ensembl chr 7:63,996,506...64,023,843

growth arrest and DNA-damage-inducible 45 alpha

NCBI chr 6:67,012,080...67,014,391
Ensembl chr 6:67,012,080...67,014,441

Gmcl1

germ cell-less, spermatogenesis associated 1

PMID:12556490

NCBI chr 6:86,668,750...86,710,377
Ensembl chr 6:86,668,750...86,710,365

Gmnn

geminin

PMID:16847348 PMID:17054725

NCBI chr13:24,935,828...24,954,222
Ensembl chr13:24,935,828...24,945,906

gene trap ROSA 26, Philippe Soriano

PMID:19075002 PMID:20404087 PMID:31833196

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

H3.3 histone B

NCBI chr11:115,912,787...115,921,313
Ensembl chr11:115,912,738...115,918,788

huntingtin

NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878

keratin 17

NCBI chr11:100,147,041...100,151,855
Ensembl chr11:100,147,043...100,151,855

Lats2

large tumor suppressor 2

PMID:17478426

NCBI chr14:57,927,119...57,983,669
Ensembl chr14:57,927,119...57,995,845
Ensembl chr14:57,927,119...57,995,845

Lbr

lamin B receptor

PMID:1101484 PMID:12490533 PMID:18621876

NCBI chr 1:181,642,880...181,669,966
Ensembl chr 1:181,642,900...181,670,611

Lemd3

LEM domain containing 3

PMID:16943282

NCBI chr10:120,759,316...120,815,491
Ensembl chr10:120,759,318...120,815,237

Lin9

lin-9 DREAM MuvB core complex component

PMID:20404087

NCBI chr 1:180,468,715...180,518,252
Ensembl chr 1:180,468,715...180,518,259

Lmna

lamin A

PMID:10579712 PMID:12748643 PMID:16014412 PMID:16862216 PMID:18757838 More...

NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263

Lmnb1

lamin B1

PMID:15232008 PMID:23650370

NCBI chr18:56,840,885...56,886,496
Ensembl chr18:56,840,885...56,886,496

Mcm2

minichromosome maintenance complex component 2

PMID:17717065

NCBI chr 6:88,860,456...88,875,762
Ensembl chr 6:88,860,456...88,875,762

Mcm4

minichromosome maintenance complex component 4

PMID:17143284

NCBI chr16:15,441,761...15,455,264
Ensembl chr16:15,441,761...15,455,264

Mcm8

minichromosome maintenance 8 homologous recombination repair factor

PMID:22771120

NCBI chr 2:132,658,061...132,686,117
Ensembl chr 2:132,658,061...132,686,117

Mcm9

minichromosome maintenance 9 homologous recombination repair factor

PMID:22771120

NCBI chr10:53,412,411...53,507,251
Ensembl chr10:53,412,411...53,506,535

Mecp2

methyl CpG binding protein 2

PMID:12160743

NCBI chr X:73,070,198...73,129,296
Ensembl chr X:73,070,198...73,178,969

Mob1a

MOB kinase activator 1A

PMID:23143302

NCBI chr 6:83,303,016...83,320,758
Ensembl chr 6:83,302,998...83,320,758

Mob1b

MOB kinase activator 1B

PMID:23143302

NCBI chr 5:88,868,730...88,906,314
Ensembl chr 5:88,868,714...88,912,079

Ncaph

non-SMC condensin I complex, subunit H

PMID:25474630

NCBI chr 2:126,945,729...126,975,857
Ensembl chr 2:126,945,729...126,975,874

Ncaph2

non-SMC condensin II complex, subunit H2

PMID:25474630

NCBI chr15:89,239,920...89,257,030
Ensembl chr15:89,239,922...89,257,029

Ndor1

NADPH dependent diflavin oxidoreductase 1

NCBI chr 2:25,134,825...25,145,458
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034

Neat1

nuclear paraspeckle assembly transcript 1 (non-protein coding)

PMID:21444682

NCBI chr19:5,874,736...5,895,508
Ensembl chr19:5,874,736...5,895,898

Nepro

nucleolus and neural progenitor protein

PMID:26178919

NCBI chr16:44,544,645...44,559,994
Ensembl chr16:44,544,664...44,557,647

Nsmce2

NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase

NCBI chr15:59,246,047...59,473,538
Ensembl chr15:59,246,096...59,473,533

Pds5b

PDS5 cohesin associated factor B

PMID:24141881

NCBI chr 5:150,597,178...150,734,134
Ensembl chr 5:150,597,204...150,734,155

Plpp7

phospholipid phosphatase 7 (inactive)

PMID:33514739

NCBI chr 2:31,985,540...32,000,827
Ensembl chr 2:31,985,540...32,000,832

Pttg1

pituitary tumor-transforming gene 1

PMID:16533945

NCBI chr11:43,311,071...43,318,290
Ensembl chr11:43,311,077...43,317,078

Rab10

RAB10, member RAS oncogene family

PMID:25860786

NCBI chr12:3,297,428...3,359,969
Ensembl chr12:3,297,428...3,359,969

Rbm19

RNA binding motif protein 19

PMID:19087264

NCBI chr 5:120,254,578...120,337,036
Ensembl chr 5:120,254,530...120,337,046

Rnaseh2b

ribonuclease H2, subunit B

PMID:22579044

NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441

Rnf43

ring finger protein 43

PMID:30884828

NCBI chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365

Smc2

structural maintenance of chromosomes 2

PMID:25474630

NCBI chr 4:52,438,966...52,488,365
Ensembl chr 4:52,439,243...52,488,260

Sprtn

SprT-like N-terminal domain

PMID:25501849

NCBI chr 8:125,624,612...125,632,903
Ensembl chr 8:125,624,625...125,632,900

Syne1

spectrin repeat containing, nuclear envelope 1

PMID:24586179

NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482

Syne2

spectrin repeat containing, nuclear envelope 2

PMID:18477613 PMID:24586179 PMID:26066746

NCBI chr12:75,865,092...76,157,702
Ensembl chr12:75,864,908...76,157,700

Tdp2

tyrosyl-DNA phosphodiesterase 2

PMID:23505375

NCBI chr13:25,015,642...25,026,136
Ensembl chr13:25,015,662...25,026,136

Tgfbi

transforming growth factor, beta induced

PMID:19117985

NCBI chr13:56,757,399...56,787,172
Ensembl chr13:56,757,336...56,787,375

Tor1a

torsin family 1, member A (torsin A)

PMID:16364897 PMID:20457914 PMID:22393392 PMID:26370418

NCBI chr 2:30,850,573...30,857,930
Ensembl chr 2:30,850,639...30,857,945

Tor1aip1

torsin A interacting protein 1

PMID:20457914

NCBI chr 1:155,880,328...155,912,226
Ensembl chr 1:155,880,345...155,912,226

Tpx2

TPX2, microtubule-associated

PMID:22266221

NCBI chr 2:152,689,859...152,737,241
Ensembl chr 2:152,689,884...152,737,241

transformation related protein 53

PMID:22579044

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

Ttyh1

tweety family member 1

PMID:20568244

NCBI chr 7:4,122,418...4,139,206
Ensembl chr 7:4,122,407...4,139,707

tyrosinase

NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720

Zmpste24

zinc metallopeptidase, STE24

PMID:15608054 PMID:16511604

NCBI chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438

abnormal centrosome morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

2700049A03Rik

RIKEN cDNA 2700049A03 gene

PMID:21750036

NCBI chr12:71,183,622...71,356,273
Ensembl chr12:71,183,622...71,290,077

Alkbh4

alkB homolog 4, lysine demethylase

PMID:23673617

NCBI chr 5:136,164,999...136,170,654
Ensembl chr 5:136,165,000...136,170,469

breast cancer 1, early onset

PMID:15123655 PMID:16943438 PMID:22034435

NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781

Btrc

beta-transducin repeat containing protein

PMID:12791266 PMID:24469832

NCBI chr19:45,352,119...45,521,782
Ensembl chr19:45,352,173...45,518,452

Cdc25a

cell division cycle 25A

PMID:18936171

NCBI chr 9:109,704,545...109,722,963
Ensembl chr 9:109,704,647...109,722,963

Cdk5rap2

CDK5 regulatory subunit associated protein 2

PMID:20627074

NCBI chr 4:70,135,092...70,328,672
Ensembl chr 4:70,135,093...70,328,680

centromere protein J

NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882

Cep152

centrosomal protein 152

PMID:24706806

NCBI chr 2:125,391,784...125,467,081
Ensembl chr 2:125,405,008...125,467,033

Cep250

centrosomal protein 250

PMID:35127699 PMID:35599622

NCBI chr 2:155,798,197...155,840,820
Ensembl chr 2:155,798,378...155,840,820

Chordc1

cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1

PMID:25678499

NCBI chr 9:18,203,563...18,225,296
Ensembl chr 9:18,203,421...18,228,738

cullin 4A

NCBI chr 8:13,155,623...13,197,940
Ensembl chr 8:13,155,621...13,197,940

Dido1

death inducer-obliterator 1

PMID:21660050

NCBI chr 2:180,299,756...180,351,886
Ensembl chr 2:180,299,757...180,351,792

Espl1

extra spindle pole bodies 1, separase

PMID:18232736

NCBI chr15:102,204,688...102,232,792
Ensembl chr15:102,204,701...102,232,792

Fbxw11

F-box and WD-40 domain protein 11

PMID:24469832

NCBI chr11:32,592,595...32,696,816
Ensembl chr11:32,592,724...32,696,816

growth arrest and DNA-damage-inducible 45 alpha

PMID:10508513 PMID:15123655

NCBI chr 6:67,012,080...67,014,391
Ensembl chr 6:67,012,080...67,014,441

gene trap ROSA 26, Philippe Soriano

PMID:20404087

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

Ift172

intraflagellar transport 172

PMID:31958312

NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460

Klf14

Kruppel-like transcription factor 14

PMID:26439168

NCBI chr 6:30,932,956...30,935,925
Ensembl chr 6:30,932,958...30,936,013

Kirsten rat sarcoma viral oncogene homolog

PMID:17607363

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

Lats1

large tumor suppressor

PMID:23230145

NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224

Lats2

large tumor suppressor 2

PMID:23230145

NCBI chr14:57,927,119...57,983,669
Ensembl chr14:57,927,119...57,995,845
Ensembl chr14:57,927,119...57,995,845

Lin9

lin-9 DREAM MuvB core complex component

PMID:20404087

NCBI chr 1:180,468,715...180,518,252
Ensembl chr 1:180,468,715...180,518,259

Map9

microtubule-associated protein 9

PMID:31662330

NCBI chr 3:82,265,379...82,302,575
Ensembl chr 3:82,265,351...82,302,575

Meox2

mesenchyme homeobox 2

PMID:18232736

NCBI chr12:37,158,539...37,229,533
Ensembl chr12:37,158,539...37,229,533

transformation related protein 53

PMID:17607363 PMID:24706806

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

abnormal cholangiocyte primary cilium morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Anks6

ankyrin repeat and sterile alpha motif domain containing 6

PMID:32886109

NCBI chr 4:47,015,365...47,057,339
Ensembl chr 4:47,015,669...47,057,427

Pkd2

polycystin 2, transient receptor potential cation channel

PMID:20093497

NCBI chr 5:104,599,379...104,653,685
Ensembl chr 5:104,607,316...104,653,685

Pkhd1

polycystic kidney and hepatic disease 1

PMID:17519956

NCBI chr 1:20,128,003...20,688,306
Ensembl chr 1:20,128,003...20,688,288

abnormal chromosome morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Acd

adrenocortical dysplasia

PMID:19995905

NCBI chr 8:106,424,789...106,427,748
Ensembl chr 8:106,422,492...106,427,734

Apc

APC, WNT signaling pathway regulator

PMID:14625550

NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605

Arhgap1

Rho GTPase activating protein 1

PMID:17227869

NCBI chr 2:91,480,463...91,502,670
Ensembl chr 2:91,480,205...91,502,671

Atm

ataxia telangiectasia mutated

PMID:11389091 PMID:21368836

NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040

breast cancer 1, early onset

NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781

Brca2

breast cancer 2, early onset

PMID:12414647 PMID:16859999

NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794

Brip1

BRCA1 interacting protein C-terminal helicase 1

PMID:26637282

NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019

Bub3

BUB3 mitotic checkpoint protein

PMID:10995385

NCBI chr 7:131,162,081...131,173,625
Ensembl chr 7:131,161,951...131,173,624

Cdc20

cell division cycle 20

PMID:17325031

NCBI chr 4:118,290,098...118,294,540
Ensembl chr 4:118,290,098...118,294,549

Cdx2

caudal type homeobox 2

PMID:14625550

NCBI chr 5:147,237,710...147,244,059
Ensembl chr 5:147,237,615...147,244,080

centromere protein A

NCBI chr 5:30,824,214...30,832,181
Ensembl chr 5:30,824,121...30,832,174

Cenpc1

centromere protein C1

PMID:9448298

NCBI chr 5:86,159,877...86,214,325
Ensembl chr 5:86,159,883...86,213,442

checkpoint kinase 1

NCBI chr 9:36,619,935...36,637,897
Ensembl chr 9:36,619,778...36,638,361

Dclre1a

DNA cross-link repair 1A

PMID:18180189

NCBI chr19:56,517,593...56,536,716
Ensembl chr19:56,517,599...56,536,675

Dido1

death inducer-obliterator 1

PMID:21660050

NCBI chr 2:180,299,756...180,351,886
Ensembl chr 2:180,299,757...180,351,792

Dna2

DNA replication helicase/nuclease 2

PMID:23604072

NCBI chr10:62,782,762...62,809,967
Ensembl chr10:62,782,805...62,809,964

Esco2

establishment of sister chromatid cohesion N-acetyltransferase 2

PMID:22101327

NCBI chr14:66,056,476...66,071,418
Ensembl chr14:66,056,487...66,071,443

Espl1

extra spindle pole bodies 1, separase

PMID:16533944

NCBI chr15:102,204,688...102,232,792
Ensembl chr15:102,204,701...102,232,792

Fanca

Fanconi anemia, complementation group A

PMID:16859999

NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315

Fmr1

fragile X messenger ribonucleoprotein 1

PMID:17442505

NCBI chr X:67,722,144...67,761,569
Ensembl chr X:67,722,147...67,761,569

fused in sarcoma

NCBI chr 7:127,565,276...127,581,204
Ensembl chr 7:127,566,629...127,584,873

growth arrest and DNA-damage-inducible 45 alpha

NCBI chr 6:67,012,080...67,014,391
Ensembl chr 6:67,012,080...67,014,441

H3.3 histone B

NCBI chr11:115,912,787...115,921,313
Ensembl chr11:115,912,738...115,918,788

Hells

helicase, lymphoid specific

PMID:11711429

NCBI chr19:38,913,282...38,958,914
Ensembl chr19:38,919,359...38,959,495

Hus1

HUS1 checkpoint clamp component

PMID:17220276

NCBI chr11:8,943,137...8,961,240
Ensembl chr11:8,943,137...8,961,191

Kat6a

K(lysine) acetyltransferase 6A

PMID:19922872

NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275

Kat8

K(lysine) acetyltransferase 8

PMID:18541669

NCBI chr 7:127,511,689...127,525,010
Ensembl chr 7:127,511,688...127,525,009

Kif22

kinesin family member 22

PMID:18329364

NCBI chr 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643

Mcph1

microcephaly, primary autosomal recessive 1

PMID:20169082 PMID:21947081

NCBI chr 8:18,645,132...18,858,105
Ensembl chr 8:18,645,147...18,853,205

Nsmce2

NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase

NCBI chr15:59,246,047...59,473,538
Ensembl chr15:59,246,096...59,473,533

Parp1

poly (ADP-ribose) polymerase family, member 1

NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819

Pds5b

PDS5 cohesin associated factor B

PMID:24141881

NCBI chr 5:150,597,178...150,734,134
Ensembl chr 5:150,597,204...150,734,155

Plpp7

phospholipid phosphatase 7 (inactive)

PMID:33514739

NCBI chr 2:31,985,540...32,000,827
Ensembl chr 2:31,985,540...32,000,832

Pot1a

protection of telomeres 1A

PMID:16839876

NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245

Pten

phosphatase and tensin homolog

PMID:22341455

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

Pttg1

pituitary tumor-transforming gene 1

PMID:17325031

NCBI chr11:43,311,071...43,318,290
Ensembl chr11:43,311,077...43,317,078

Rad52

RAD52 homolog, DNA repair protein

PMID:16009599

NCBI chr 6:119,878,781...119,899,789
Ensembl chr 6:119,879,659...119,899,789

Rad54l

RAD54 like (S. cerevisiae)

PMID:16009599

NCBI chr 4:115,951,458...115,980,897
Ensembl chr 4:115,951,461...115,980,887

Rag2

recombination activating gene 2

PMID:21368836

NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874

Rb1

RB transcriptional corepressor 1

PMID:16612004

NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262

RecQ protein-like

NCBI chr 6:142,296,068...142,332,802
Ensembl chr 6:142,296,068...142,332,813

sirtuin 1

NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483

sirtuin 2

NCBI chr 7:28,466,192...28,488,086
Ensembl chr 7:28,466,160...28,488,086

Suds3

suppressor of defective silencing 3 homolog (S. cerevisiae)

PMID:14522945

NCBI chr 5:117,229,743...117,257,980
Ensembl chr 5:117,229,745...117,254,178

Swsap1

SWIM type zinc finger 7 associated protein 1

PMID:30305635

NCBI chr 9:21,867,049...21,869,566
Ensembl chr 9:21,867,051...21,869,560

Tardbp

TAR DNA binding protein

PMID:34599968

NCBI chr 4:148,696,839...148,711,672
Ensembl chr 4:148,696,839...148,711,476

Tdp2

tyrosyl-DNA phosphodiesterase 2

PMID:23505375

NCBI chr13:25,015,642...25,026,136
Ensembl chr13:25,015,662...25,026,136

Terc

telomerase RNA component

PMID:15084742 PMID:15235603 PMID:15731767 PMID:24449270

NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149

Terf1

telomeric repeat binding factor 1

PMID:19679647

NCBI chr 1:15,875,634...15,914,276
Ensembl chr 1:15,875,870...15,914,276

Terf2

telomeric repeat binding factor 2

PMID:17015429

NCBI chr 8:107,796,032...107,823,180
Ensembl chr 8:107,796,032...107,823,179

Tert

telomerase reverse transcriptase

PMID:16651430 PMID:21113150 PMID:22341455

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

Tgfbi

transforming growth factor, beta induced

PMID:19117985

NCBI chr13:56,757,399...56,787,172
Ensembl chr13:56,757,336...56,787,375

Tinf2

Terf1 (TRF1)-interacting nuclear factor 2

PMID:24449270

NCBI chr14:55,912,120...55,919,265
Ensembl chr14:55,912,146...55,919,277

transformation related protein 53

PMID:12414647 PMID:16839876 PMID:20473325 PMID:21368836 PMID:22341455

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

tyrosinase

NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720

Vcpip1

valosin containing protein (p97)/p47 complex interacting protein 1

PMID:32649882

NCBI chr 1:9,788,847...9,818,607
Ensembl chr 1:9,788,847...9,818,607

Wrn

Werner syndrome RecQ like helicase

PMID:15235603

NCBI chr 8:33,724,400...33,875,591
Ensembl chr 8:33,724,412...33,875,555

abnormal chromosome number

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

aurora kinase A

NCBI chr 2:172,198,110...172,212,820
Ensembl chr 2:172,198,110...172,212,455

breast cancer 1, early onset

PMID:9872327

NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781

Bub1b

BUB1B, mitotic checkpoint serine/threonine kinase

PMID:31738183

NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072

Cdkn1a

cyclin dependent kinase inhibitor 1A (P21)

NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701

Ercc1

excision repair cross-complementing rodent repair deficiency, complementation group 1

PMID:11713303

NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449

growth arrest and DNA-damage-inducible 45 alpha

NCBI chr 6:67,012,080...67,014,391
Ensembl chr 6:67,012,080...67,014,441

gene trap ROSA 26, Philippe Soriano

PMID:19075002 PMID:21266350

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

Hells

helicase, lymphoid specific

PMID:15105378

NCBI chr19:38,913,282...38,958,914
Ensembl chr19:38,919,359...38,959,495

Mad1l1

MAD1 mitotic arrest deficient 1-like 1

PMID:17210695

NCBI chr 5:139,994,444...140,307,346
Ensembl chr 5:139,994,444...140,307,307

Mad2l1

MAD2 mitotic arrest deficient-like 1

PMID:17210695

NCBI chr 6:66,512,205...66,518,091
Ensembl chr 6:66,512,374...66,524,204

Spi1

spleen focus forming virus (SFFV) proviral integration oncogene

PMID:15146183

NCBI chr 2:90,912,750...90,946,104
Ensembl chr 2:90,912,735...90,946,101

Tardbp

TAR DNA binding protein

PMID:34599968

NCBI chr 4:148,696,839...148,711,672
Ensembl chr 4:148,696,839...148,711,476

transformation related protein 53

PMID:9872327 PMID:10508513 PMID:17251932

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

Trp73

transformation related protein 73

PMID:18805989

NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665

abnormal cilium morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Bbs7

Bardet-Biedl syndrome 7 (human)

PMID:23572516

NCBI chr 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626

Ccp110

centriolar coiled coil protein 110

PMID:26965371

NCBI chr 7:118,311,740...118,336,247
Ensembl chr 7:118,311,775...118,336,247

Cdk20

cyclin dependent kinase 20

PMID:28817564

NCBI chr13:64,580,133...64,587,536
Ensembl chr13:64,580,128...64,589,587

Enkd1

enkurin domain containing 1

PMID:35301795

NCBI chr 8:106,430,281...106,435,358
Ensembl chr 8:106,430,283...106,434,842

Intu

inturned planar cell polarity protein

PMID:20067783 PMID:25774014

NCBI chr 3:40,585,559...40,659,206
Ensembl chr 3:40,585,435...40,659,204

Tctn3

tectonic family member 3

PMID:28800946

NCBI chr19:40,584,890...40,600,768
Ensembl chr19:40,584,890...40,600,677

abnormal colon goblet cell morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Apc

APC, WNT signaling pathway regulator

PMID:17332369

NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605

Bdnf

brain derived neurotrophic factor

PMID:10514401

NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352

Cftr

cystic fibrosis transmembrane conductance regulator

PMID:7527588 PMID:8589719

NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767

E2f4

E2F transcription factor 4

PMID:10983977

NCBI chr 8:106,024,295...106,032,002
Ensembl chr 8:106,024,295...106,032,002

Ednrb

endothelin receptor type B

PMID:24945437

NCBI chr14:104,052,051...104,083,248
Ensembl chr14:104,052,061...104,081,838

Esr1

estrogen receptor 1 (alpha)

PMID:17332369

NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614

Esr2

estrogen receptor 2 (beta)

PMID:17332369

NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033

Fam3d

FAM3 metabolism regulating signaling molecule D

PMID:33219235

NCBI chr14:14,091,010...14,120,836
Ensembl chr14:14,091,019...14,120,836

Gimap5

GTPase, IMAP family member 5

PMID:20190135

NCBI chr 6:48,723,131...48,731,134
Ensembl chr 6:48,723,131...48,731,144

gene trap ROSA 26, Philippe Soriano

PMID:18372904

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

Igf2bp1

insulin-like growth factor 2 mRNA binding protein 1

PMID:15121863

NCBI chr11:95,847,989...95,896,770
Ensembl chr11:95,847,989...95,896,766

Klf4

Kruppel-like transcription factor 4 (gut)

PMID:12015290

NCBI chr 4:55,527,137...55,536,984
Ensembl chr 4:55,527,143...55,532,466

Kirsten rat sarcoma viral oncogene homolog

PMID:18372904

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

leptin

NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876

Nfil3

nuclear factor, interleukin 3, regulated

PMID:24442434

NCBI chr13:53,121,245...53,136,914
Ensembl chr13:53,121,245...53,135,109

Slc9a8

solute carrier family 9 (sodium/hydrogen exchanger), member 8

PMID:22575219

NCBI chr 2:167,261,678...167,318,920
Ensembl chr 2:167,263,632...167,318,920

Tcf7l2

transcription factor 7 like 2, T cell specific, HMG box

PMID:21383188

NCBI chr19:55,730,227...55,922,091
Ensembl chr19:55,730,252...55,922,086

Zranb1

zinc finger, RAN-binding domain containing 1

PMID:36087511

NCBI chr 7:132,532,905...132,588,127
Ensembl chr 7:132,532,871...132,588,120

abnormal duodenal goblet cell morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

claudin 15

NCBI chr 5:136,996,723...137,004,699
Ensembl chr 5:136,995,470...137,004,712

abnormal embryonic cilium location or orientation

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Bicc1

BicC family RNA binding protein 1

PMID:19666828

NCBI chr10:70,758,660...70,995,581
Ensembl chr10:70,758,662...70,995,530

Cfl1

cofilin 1, non-muscle

PMID:23406901

NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229

forkhead box J1

NCBI chr11:116,221,530...116,226,331
Ensembl chr11:116,221,530...116,226,225

inversin

NCBI chr 4:48,279,707...48,431,956
Ensembl chr 4:48,279,760...48,431,954

notochord homeobox

NCBI chr 6:85,400,851...85,405,859
Ensembl chr 6:85,400,868...85,405,859

Vangl1

VANGL planar cell polarity 1

PMID:20562861

NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009

Vangl2

VANGL planar cell polarity 2

PMID:20562861 PMID:23406901

NCBI chr 1:171,828,527...171,856,532
Ensembl chr 1:171,828,527...171,856,011

abnormal embryonic neuroepithelium primary cilium morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATM interactor

NCBI chr 8:117,670,132...117,687,184
Ensembl chr 8:117,670,132...117,687,184

Cdk20

cyclin dependent kinase 20

PMID:28817564

NCBI chr13:64,580,133...64,587,536
Ensembl chr13:64,580,128...64,589,587

Dync2i2

dynein 2 intermediate chain 2

PMID:28379358

NCBI chr 2:29,921,563...29,938,891
Ensembl chr 2:29,921,558...29,938,893

Dynll1

dynein light chain LC8-type 1

PMID:25294941

NCBI chr 5:115,435,129...115,438,995
Ensembl chr 5:115,435,169...115,439,058

Intu

inturned planar cell polarity protein

PMID:25774014

NCBI chr 3:40,585,559...40,659,206
Ensembl chr 3:40,585,435...40,659,204

abnormal endoplasmic reticulum morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abcg2

ATP binding cassette subfamily G member 2 (Junior blood group)

PMID:23954234

NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661

aquaporin 11

NCBI chr 7:97,375,586...97,387,454
Ensembl chr 7:97,373,213...97,387,496

autophagy related 7

NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575

atlastin GTPase 1

NCBI chr12:69,939,879...70,010,859
Ensembl chr12:69,939,388...70,013,191

Atp2c1

ATPase, Ca++-sequestering

PMID:17597066

NCBI chr 9:105,288,561...105,398,456
Ensembl chr 9:105,280,738...105,404,518

Ccpg1

cell cycle progression 1

PMID:29290589

NCBI chr 9:72,892,692...72,923,622
Ensembl chr 9:72,892,711...72,923,622

CD19 antigen

NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061

Cert1

ceramide transporter 1

PMID:19139267

NCBI chr13:96,679,243...96,782,362
Ensembl chr13:96,679,126...96,776,675

Chmp2b

charged multivesicular body protein 2B

PMID:34130995

NCBI chr16:65,336,014...65,359,648
Ensembl chr16:65,336,014...65,359,612

Clec16a

C-type lectin domain family 16, member A

PMID:24949970

NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742

Col8a2

collagen, type VIII, alpha 2

PMID:22002996 PMID:23422828

NCBI chr 4:126,180,587...126,208,123
Ensembl chr 4:126,180,586...126,208,123

Dnajb9

DnaJ heat shock protein family (Hsp40) member B9

PMID:24336520

NCBI chr12:44,252,680...44,256,851
Ensembl chr12:44,252,342...44,257,109

Ell2

elongation factor for RNA polymerase II 2

PMID:25238757

NCBI chr13:75,855,603...75,920,480
Ensembl chr13:75,854,876...75,920,483

Fkbp10

FK506 binding protein 10

PMID:24777781

NCBI chr11:100,306,520...100,315,666
Ensembl chr11:100,306,523...100,315,650

Gclc

glutamate-cysteine ligase, catalytic subunit

PMID:17464988

NCBI chr 9:77,661,817...77,701,771
Ensembl chr 9:77,661,817...77,701,767

Gdap1

ganglioside-induced differentiation-associated-protein 1

PMID:25860513

NCBI chr 1:17,202,028...17,234,495
Ensembl chr 1:17,215,586...17,234,495

Gfer

growth factor, augmenter of liver regeneration

PMID:25448926

NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,130

granulin

NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874

gene trap ROSA 26, Philippe Soriano

PMID:31833196

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

Lman1

lectin, mannose-binding, 1

PMID:21795745

NCBI chr18:66,113,810...66,135,706
Ensembl chr18:66,113,809...66,155,651

Magi2

membrane associated guanylate kinase, WW and PDZ domain containing 2

PMID:25271328

NCBI chr 5:19,431,787...20,909,790
Ensembl chr 5:19,432,034...20,909,790

mitofusin 2

NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161

mucin 2

NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430

Pex5

peroxisomal biogenesis factor 5

PMID:15732085

NCBI chr 6:124,373,774...124,392,878
Ensembl chr 6:124,373,775...124,392,026

Plp2

proteolipid protein 2

PMID:26512060

NCBI chr X:7,534,180...7,537,629
Ensembl chr X:7,534,180...7,537,629

Reep1

receptor accessory protein 1

PMID:27638887 PMID:35348668

NCBI chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694

Sel1l

sel-1 suppressor of lin-12-like (C. elegans)

PMID:24453213

NCBI chr12:91,772,817...91,815,931
Ensembl chr12:91,772,817...91,815,931

Sidt2

SID1 transmembrane family, member 2

PMID:27233614

NCBI chr 9:45,849,155...45,869,299
Ensembl chr 9:45,849,155...45,866,556

Speer6-ps1

spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1

PMID:15732085 PMID:17464988 PMID:23275615 PMID:23299886 PMID:25448926

NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317
Ensembl chr13:3,236,206...3,239,317

Srsf3

serine and arginine-rich splicing factor 3

PMID:23299886

NCBI chr17:29,251,634...29,262,346
Ensembl chr17:29,251,602...29,262,347

Tardbp

TAR DNA binding protein

PMID:34130995

NCBI chr 4:148,696,839...148,711,672
Ensembl chr 4:148,696,839...148,711,476

toll-like receptor 2

NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074

Trip11

thyroid hormone receptor interactor 11

PMID:20089971 PMID:29180569

NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526

uromodulin

NCBI chr 7:119,061,931...119,078,485
Ensembl chr 7:119,061,934...119,078,505

Use1

unconventional SNARE in the ER 1 homolog (S. cerevisiae)

PMID:19188447

NCBI chr 8:71,819,329...71,822,376
Ensembl chr 8:71,819,492...71,822,376

WD repeat domain 45B

NCBI chr11:121,218,029...121,246,393
Ensembl chr11:121,218,050...121,245,271

Xbp1

X-box binding protein 1

PMID:18775308

NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893

abnormal ependyma motile cilium morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Bbs1

Bardet-Biedl syndrome 1 (human)

PMID:18032602

NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656

Dnah9

dynein, axonemal, heavy chain 9

PMID:33347437

NCBI chr11:65,722,150...66,059,379
Ensembl chr11:65,722,108...66,059,377

Hoatz

HOATZ cilia and flagella associated protein

PMID:32248064

NCBI chr 9:50,992,610...51,017,183
Ensembl chr 9:50,992,415...51,013,378

Hydin

HYDIN, axonemal central pair apparatus protein

PMID:18250199

NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885

Mks1

MKS transition zone complex subunit 1

PMID:23454480

NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629

abnormal female germ cell morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

caspase 2

NCBI chr 6:42,241,942...42,259,442
Ensembl chr 6:42,241,919...42,259,442

Fmr1

fragile X messenger ribonucleoprotein 1

PMID:22470123

NCBI chr X:67,722,144...67,761,569
Ensembl chr X:67,722,147...67,761,569

Fshr

follicle stimulating hormone receptor

PMID:12135868

NCBI chr17:89,292,380...89,508,103
Ensembl chr17:89,292,380...89,508,103

heat shock factor 2

NCBI chr10:57,359,862...57,389,239
Ensembl chr10:57,362,481...57,389,231

Kit

KIT proto-oncogene receptor tyrosine kinase

PMID:8898216

NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382

Mcm9

minichromosome maintenance 9 homologous recombination repair factor

PMID:21987787

NCBI chr10:53,412,411...53,507,251
Ensembl chr10:53,412,411...53,506,535

Nanos3

nanos C2HC-type zinc finger 3

PMID:18281459

NCBI chr 8:84,900,359...84,911,396
Ensembl chr 8:84,900,360...84,911,846

Wnt4

wingless-type MMTV integration site family, member 4

PMID:9989404

NCBI chr 4:137,004,946...137,026,812
Ensembl chr 4:137,004,800...137,027,037

abnormal foam cell morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ids

iduronate 2-sulfatase

PMID:20652491

NCBI chr X:69,386,675...69,429,437
Ensembl chr X:69,386,675...69,408,690

iduronidase, alpha-L

NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423

abnormal gametes

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Oca2

oculocutaneous albinism II

PMID:5565073

NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266

Piga

phosphatidylinositol glycan anchor biosynthesis, class A

PMID:12692150

NCBI chr X:163,202,814...163,216,912
Ensembl chr X:163,202,783...163,216,912

Tcte1

t-complex-associated testis expressed 1

PMID:28630322

NCBI chr17:45,834,360...45,853,605
Ensembl chr17:45,834,360...45,853,606

abnormal germ cell morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Catsperd

cation channel sperm associated auxiliary subunit delta

PMID:21224844

NCBI chr17:56,933,917...56,971,456
Ensembl chr17:56,935,143...56,971,456

Cdk16

cyclin dependent kinase 16

PMID:22184064

NCBI chr X:20,554,210...20,566,119
Ensembl chr X:20,554,193...20,566,119

Cdkn2c

cyclin dependent kinase inhibitor 2C

PMID:11287627

NCBI chr 4:109,518,073...109,523,953
Ensembl chr 4:109,518,073...109,524,386

Cdkn2d

cyclin dependent kinase inhibitor 2D

PMID:11287627

NCBI chr 9:21,199,759...21,202,553
Ensembl chr 9:21,199,706...21,202,703

Ehd1

EH-domain containing 1

PMID:20359371

NCBI chr19:6,326,926...6,350,126
Ensembl chr19:6,326,755...6,350,126

Esr2

estrogen receptor 2 (beta)

PMID:15044378

NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033

Map2

microtubule-associated protein 2

NCBI chr 1:66,214,337...66,481,742
Ensembl chr 1:66,214,432...66,481,742

Pafah1b1

platelet-activating factor acetylhydrolase, isoform 1b, subunit 1

PMID:13129914

NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496

Prdm1

PR domain containing 1, with ZNF domain

PMID:19737919

NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497

Prdm9

PR domain containing 9

PMID:22258617

NCBI chr17:15,763,334...15,784,636
Ensembl chr17:15,763,341...15,784,616

Rnf212

ring finger protein 212

NCBI chr 5:108,875,971...108,922,933
Ensembl chr 5:108,877,156...108,922,848

R-spondin 1

NCBI chr 4:124,880,197...124,902,895
Ensembl chr 4:124,880,223...124,902,892

SMAD family member 5

NCBI chr13:56,850,804...56,890,191
Ensembl chr13:56,850,823...56,890,190

SMAD family member 9

NCBI chr 3:54,662,873...54,709,162
Ensembl chr 3:54,663,003...54,708,678

Styx

serine/threonine/tyrosine interaction protein

PMID:11842224

NCBI chr14:45,588,534...45,614,608
Ensembl chr14:45,588,550...45,660,277

abnormal Golgi apparatus morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ap5z1

adaptor-related protein complex 5, zeta 1 subunit

PMID:30930081

NCBI chr 5:142,448,960...142,464,471
Ensembl chr 5:142,449,699...142,464,465

autophagy related 7

NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575

Atp2c1

ATPase, Ca++-sequestering

PMID:17597066

NCBI chr 9:105,288,561...105,398,456
Ensembl chr 9:105,280,738...105,404,518

coronin 7

NCBI chr16:4,444,748...4,497,584
Ensembl chr16:4,443,997...4,497,641

Dicer1

dicer 1, ribonuclease type III

PMID:21949761

NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211

Fads2

fatty acid desaturase 2

PMID:21653892

NCBI chr19:10,040,129...10,078,867
Ensembl chr19:10,040,129...10,079,110

Golga2

golgin A2

PMID:28028212 PMID:28055014

NCBI chr 2:32,178,299...32,197,925
Ensembl chr 2:32,177,396...32,197,933

Gorasp2

golgi reassembly stacking protein 2

PMID:28617811

NCBI chr 2:70,491,520...70,522,069
Ensembl chr 2:70,491,920...70,542,980

Npc1

NPC intracellular cholesterol transporter 1

PMID:15465426

NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457

Orai1

ORAI calcium release-activated calcium modulator 1

PMID:26969191

NCBI chr 5:123,153,078...123,168,515
Ensembl chr 5:123,153,137...123,168,519

profilin 3

NCBI chr13:55,562,501...55,563,045
Ensembl chr13:55,562,501...55,563,045

Pfn4

profilin family, member 4

PMID:35950913

NCBI chr12:4,819,010...4,828,813
Ensembl chr12:4,819,022...4,828,813

Rfx2

regulatory factor X, 2 (influences HLA class II expression)

PMID:26162102

NCBI chr17:57,082,897...57,138,102
Ensembl chr17:57,082,897...57,138,013

Tbc1d20

TBC1 domain family, member 20

PMID:24239381

NCBI chr 2:152,135,745...152,155,914
Ensembl chr 2:152,135,748...152,155,916

Uso1

USO1 vesicle docking factor

PMID:23185636

NCBI chr 5:92,285,770...92,350,659
Ensembl chr 5:92,285,797...92,350,657

vacuolar protein sorting 13B

NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375

WD repeat domain 45B

NCBI chr11:121,218,029...121,246,393
Ensembl chr11:121,218,050...121,245,271

Yif1b

Yip1 interacting factor homolog B (S. cerevisiae)

PMID:26077767

NCBI chr 7:28,937,019...28,946,957
Ensembl chr 7:28,937,754...28,947,022

abnormal Golgi cis cisterna morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gorasp1

golgi reassembly stacking protein 1

PMID:24795147

NCBI chr 9:119,754,739...119,766,624
Ensembl chr 9:119,754,323...119,766,631

abnormal Golgi cisterna morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

golgin A2

NCBI chr 2:32,178,299...32,197,925
Ensembl chr 2:32,177,396...32,197,933

Yif1b

Yip1 interacting factor homolog B (S. cerevisiae)

PMID:26077767

NCBI chr 7:28,937,019...28,946,957
Ensembl chr 7:28,937,754...28,947,022

abnormal Golgi stack morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ap5z1

adaptor-related protein complex 5, zeta 1 subunit

PMID:30930081

NCBI chr 5:142,448,960...142,464,471
Ensembl chr 5:142,449,699...142,464,465

gene trap ROSA 26, Philippe Soriano

PMID:29180569

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

Trip11

thyroid hormone receptor interactor 11

PMID:29180569

NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526

vacuolar protein sorting 13B

NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375

abnormal Golgi trans cisterna morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cadps

Ca2+-dependent secretion activator

PMID:24174665

NCBI chr14:9,646,424...10,097,203
Ensembl chr14:9,646,684...10,097,200

Emx1

empty spiracles homeobox 1

PMID:24174665

NCBI chr 6:85,164,913...85,181,445
Ensembl chr 6:85,164,420...85,181,444

abnormal ileal goblet cell morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Arhgap17

Rho GTPase activating protein 17

PMID:27229483

NCBI chr 7:122,878,372...122,969,171
Ensembl chr 7:122,878,441...122,969,138

Cftr

cystic fibrosis transmembrane conductance regulator

PMID:16571105

NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767

abnormal inner hair cell kinocilium location or orientation

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mkks

McKusick-Kaufman syndrome

PMID:16170314

NCBI chr 2:136,715,700...136,733,422
Ensembl chr 2:136,715,700...136,733,309

Pcdh15

protocadherin 15

PMID:21427143 PMID:24044941

NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569

abnormal inner hair cell kinocilium morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cdh23

cadherin 23 (otocadherin)

PMID:18339676

NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269

Gfi1

growth factor independent 1 transcription repressor

PMID:26469318

NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902

Igf1r

insulin-like growth factor I receptor

PMID:22159122

NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416

Osbpl2

oxysterol binding protein-like 2

PMID:35041619

NCBI chr 2:179,758,059...179,804,475
Ensembl chr 2:179,761,099...179,804,473

protocadherin 15

NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569

Rfx1

regulatory factor X, 1 (influences HLA class II expression)

PMID:26469318

NCBI chr 8:84,789,787...84,823,630
Ensembl chr 8:84,793,463...84,823,621

Rfx3

regulatory factor X, 3 (influences HLA class II expression)

PMID:26469318

NCBI chr19:27,739,121...27,995,287
Ensembl chr19:27,739,121...27,988,566

abnormal intestinal goblet cell morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

anterior gradient 2

NCBI chr12:36,042,924...36,054,080
Ensembl chr12:36,042,906...36,054,086

Apc

APC, WNT signaling pathway regulator

PMID:15716339 PMID:17332369 PMID:26214133

NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605

amphiregulin

NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291

autophagy related 5

NCBI chr10:44,144,325...44,240,295
Ensembl chr10:44,144,354...44,240,287

Atg7

autophagy related 7

PMID:24185898 PMID:26214133

NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575

Cbfa2t2

CBFA2/RUNX1 translocation partner 2

PMID:16227606

NCBI chr 2:154,278,018...154,381,276
Ensembl chr 2:154,278,401...154,381,276

Cdc42

cell division cycle 42

PMID:22354172

NCBI chr 4:137,047,007...137,085,070
Ensembl chr 4:137,047,007...137,085,031

Cdx2

caudal type homeobox 2

PMID:19386267

NCBI chr 5:147,237,710...147,244,059
Ensembl chr 5:147,237,615...147,244,080

Cftr

cystic fibrosis transmembrane conductance regulator

PMID:7505691 PMID:7527588 PMID:7556083 PMID:11823443 PMID:18802965 More...

NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767

Ctnnb1

catenin (cadherin associated protein), beta 1

PMID:11585809

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

Egf

epidermal growth factor

PMID:11438495

NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965

Ehmt2

euchromatic histone lysine N-methyltransferase 2

PMID:20421388

NCBI chr17:35,117,427...35,133,049
Ensembl chr17:35,117,445...35,133,028

Elavl1

ELAV (embryonic lethal, abnormal vision)-like 1 (Hu antigen R)

PMID:19884656

NCBI chr 8:4,334,781...4,375,104
Ensembl chr 8:4,335,382...4,375,413

E74-like factor 3

NCBI chr 1:135,181,312...135,186,210
Ensembl chr 1:135,181,313...135,186,306

forkhead box L1

NCBI chr 8:121,854,572...121,857,383
Ensembl chr 8:121,854,679...121,857,383

gene trap ROSA 26, Philippe Soriano

PMID:17980593 PMID:19884656 PMID:20025862 PMID:22510880 PMID:23222438

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

Il13

interleukin 13

PMID:11070175 PMID:12150887

NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529

Il17re

interleukin 17 receptor E

PMID:21993848

NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719

interleukin 25

NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294

interleukin 4

NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496

Il4ra

interleukin 4 receptor, alpha

PMID:15142530

NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646

interleukin 5

NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933

Il9

interleukin 9

PMID:11070175 PMID:12150887

NCBI chr13:56,627,090...56,630,070
Ensembl chr13:56,627,090...56,630,059

Inpp5d

inositol polyphosphate-5-phosphatase D

PMID:21640975

NCBI chr 1:87,548,034...87,648,232
Ensembl chr 1:87,548,034...87,648,229

Klf4

Kruppel-like transcription factor 4 (gut)

PMID:22384261

NCBI chr 4:55,527,137...55,536,984
Ensembl chr 4:55,527,143...55,532,466

Kirsten rat sarcoma viral oncogene homolog

PMID:18372904

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

laminin, alpha 5

NCBI chr 2:179,818,166...179,867,652
Ensembl chr 2:179,818,166...179,867,652

Lgr5

leucine rich repeat containing G protein coupled receptor 5

PMID:22510880

NCBI chr10:115,286,219...115,423,685
Ensembl chr10:115,286,216...115,423,685

lactoperoxidase

NCBI chr11:87,697,254...87,716,750
Ensembl chr11:87,697,254...87,719,115

Ltbp4

latent transforming growth factor beta binding protein 4

PMID:12208849

NCBI chr 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117

lysozyme 2

NCBI chr10:117,113,446...117,118,177
Ensembl chr10:117,113,236...117,118,226

Map1lc3b

microtubule-associated protein 1 light chain 3 beta

PMID:24185898

NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499

Map3k14

mitogen-activated protein kinase kinase kinase 14

PMID:16640660

NCBI chr11:103,110,590...103,158,227
Ensembl chr11:103,110,588...103,158,298

Map3k7

mitogen-activated protein kinase kinase kinase 7

PMID:16940043

NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467

Mmp9

matrix metallopeptidase 9

PMID:17484881

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

Muc2

mucin 2

PMID:11872843 PMID:18318598

NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430

Muc5ac

mucin 5, subtypes A and C, tracheobronchial/gastric

PMID:21502330

NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968

Ncf1

neutrophil cytosolic factor 1

PMID:24185898

NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479

neurogenin 3

NCBI chr10:61,968,869...61,970,542
Ensembl chr10:61,968,869...61,970,542

Nherf1

NHERF family PDZ scaffold protein 1

PMID:15591354

NCBI chr11:115,054,138...115,072,009
Ensembl chr11:115,054,167...115,072,007

NK3 homeobox 2

NCBI chr 5:41,918,826...41,921,563
Ensembl chr 5:41,918,826...41,921,844

Nrbp1

nuclear receptor binding protein 1

PMID:22510880

NCBI chr 5:31,398,227...31,408,910
Ensembl chr 5:31,398,208...31,408,910

Pcsk1

proprotein convertase subtilisin/kexin type 1

PMID:35245347

NCBI chr13:75,237,407...75,282,980
Ensembl chr13:75,237,945...75,282,980

Pglyrp1

peptidoglycan recognition protein 1

NCBI chr 7:18,618,615...18,624,363
Ensembl chr 7:18,605,256...18,624,384

Pglyrp2

peptidoglycan recognition protein 2

NCBI chr17:32,631,433...32,643,157
Ensembl chr17:32,631,433...32,643,141

Pglyrp3

peptidoglycan recognition protein 3

NCBI chr 3:91,919,784...91,939,979
Ensembl chr 3:91,921,890...91,938,889

Pglyrp4

peptidoglycan recognition protein 4

NCBI chr 3:90,634,008...90,648,824
Ensembl chr 3:90,634,213...90,648,824

Prss8

protease, serine 8 (prostasin)

PMID:29617460

NCBI chr 7:127,524,889...127,529,266
Ensembl chr 7:127,524,888...127,529,276

Pten

phosphatase and tensin homolog

PMID:19168705

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

Rab11a

RAB11A, member RAS oncogene family

PMID:25063677

NCBI chr 9:64,622,582...64,645,038
Ensembl chr 9:64,622,581...64,645,040

Rag2

recombination activating gene 2

PMID:7595226

NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874

Rbpj

recombination signal binding protein for immunoglobulin kappa J region

PMID:15959515

NCBI chr 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704

Sav1

salvador family WW domain containing 1

PMID:18369314

NCBI chr12:70,011,786...70,033,864
Ensembl chr12:70,011,786...70,033,776

Sec23b

SEC23 homolog B, COPII coat complex component

PMID:22745161

NCBI chr 2:144,398,165...144,432,673
Ensembl chr 2:144,398,149...144,432,669

Smo

smoothened, frizzled class receptor

PMID:23645682

NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364

Spdef

SAM pointed domain containing ets transcription factor

PMID:19549527

NCBI chr17:27,933,416...27,949,977
Ensembl chr17:27,933,326...27,947,929

Spint2

serine protease inhibitor, Kunitz type 2

PMID:29617460

NCBI chr 7:28,955,755...28,981,484
Ensembl chr 7:28,955,748...28,981,337

Tcf7l2

transcription factor 7 like 2, T cell specific, HMG box

PMID:21383188

NCBI chr19:55,730,227...55,922,091
Ensembl chr19:55,730,252...55,922,086

Tcra

T cell receptor alpha chain

PMID:8104709

NCBI chr14:52,665,424...54,461,655

Tgfa

transforming growth factor alpha

PMID:11438495

NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701

Thra

thyroid hormone receptor alpha

PMID:11416151

NCBI chr11:98,631,539...98,659,832
Ensembl chr11:98,631,464...98,659,832

toll-like receptor 4

NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521

Yipf6

Yip1 domain family, member 6

PMID:22802641

NCBI chr X:97,979,922...97,992,627
Ensembl chr X:97,979,922...97,992,623

abnormal intestinal villus goblet cell morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Usp22

ubiquitin specific peptidase 22