NUP98 (nucleoporin 98 and 96 precursor) - Rat Genome Database

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Gene: NUP98 (nucleoporin 98 and 96 precursor) Homo sapiens
Analyze
Symbol: NUP98
Name: nucleoporin 98 and 96 precursor
RGD ID: 733793
HGNC Page HGNC:8068
Description: Enables several functions, including molecular condensate scaffold activity; promoter-specific chromatin binding activity; and transcription coactivator activity. A structural constituent of nuclear pore. Involved in nuclear pore complex assembly and positive regulation of mRNA splicing, via spliceosome. Located in kinetochore and nucleus. Part of nuclear pore nuclear basket; nuclear pore outer ring; and ribonucleoprotein complex. Implicated in T-cell acute lymphoblastic leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADIR2; GLFG-repeat containing nucleoporin; nuclear pore complex protein Nup98; nuclear pore complex protein Nup98-Nup96; nucleoporin 96; nucleoporin 98; nucleoporin 98kD; nucleoporin 98kDa; NUP196; NUP96; Nup98-96; Nup98-Nup96
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38113,675,010 - 3,797,554 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl113,671,083 - 3,797,792 (-)EnsemblGRCh38hg38GRCh38
GRCh37113,696,240 - 3,818,784 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36113,652,816 - 3,775,468 (-)NCBINCBI36Build 36hg18NCBI36
Build 34113,652,816 - 3,775,468NCBI
Celera113,701,320 - 3,824,093 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef113,430,150 - 3,552,853 (-)NCBIHuRef
CHM1_1113,695,309 - 3,818,528 (-)NCBICHM1_1
T2T-CHM13v2.0113,740,382 - 3,862,891 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1-naphthyl isothiocyanate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Brodifacoum  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
cobalt dichloride  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
disodium selenite  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenthion  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
methapyrilene  (EXP)
methidathion  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
potassium chromate  (EXP)
resveratrol  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
thapsigargin  (ISO)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
trovafloxacin  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
valsartan  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Regulation of mRNA trafficking by nuclear pore complexes. Bonnet A and Palancade B, Genes (Basel). 2014 Sep 2;5(3):767-91. doi: 10.3390/genes5030767.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The (4;11)(q21;p15) translocation fuses the NUP98 and RAP1GDS1 genes and is recurrent in T-cell acute lymphocytic leukemia. Hussey DJ, etal., Blood. 1999 Sep 15;94(6):2072-9.
4. Postage for the messenger: designating routes for nuclear mRNA export. Natalizio BJ and Wente SR, Trends Cell Biol. 2013 Aug;23(8):365-73. doi: 10.1016/j.tcb.2013.03.006. Epub 2013 Apr 11.
5. Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13). Panagopoulos I, etal., Genes Chromosomes Cancer 2003 Jan;36(1):107-12.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7736573   PMID:8563753   PMID:8563754   PMID:8707840   PMID:8943370   PMID:9114010   PMID:9144189   PMID:9166830   PMID:9275187   PMID:9348540   PMID:9368759   PMID:9847314  
PMID:9858599   PMID:10087256   PMID:10209021   PMID:10500183   PMID:10556215   PMID:10601273   PMID:10668806   PMID:10875935   PMID:11073998   PMID:11106761   PMID:11238447   PMID:11248057  
PMID:11352911   PMID:11493482   PMID:11551912   PMID:11564755   PMID:11684705   PMID:11782354   PMID:11809937   PMID:11830496   PMID:11839768   PMID:11950939   PMID:11986249   PMID:12082612  
PMID:12112533   PMID:12138901   PMID:12191480   PMID:12228227   PMID:12477932   PMID:12589057   PMID:12802065   PMID:12931227   PMID:12970787   PMID:14517296   PMID:14554087   PMID:14561764  
PMID:14718558   PMID:14966272   PMID:14968112   PMID:15146057   PMID:15207818   PMID:15229283   PMID:15302935   PMID:15359631   PMID:15454493   PMID:15489334   PMID:15629720   PMID:15681849  
PMID:15725483   PMID:15851029   PMID:15951287   PMID:16286466   PMID:16314397   PMID:16344560   PMID:16479161   PMID:16565220   PMID:16651408   PMID:16861351   PMID:16964243   PMID:17081983  
PMID:17172455   PMID:17178874   PMID:17287853   PMID:17304248   PMID:17353931   PMID:17360435   PMID:17442773   PMID:17589499   PMID:17650673   PMID:18045934   PMID:18084320   PMID:18287282  
PMID:18388181   PMID:18566322   PMID:18604245   PMID:18832153   PMID:18854154   PMID:19000832   PMID:19149559   PMID:19240061   PMID:19454010   PMID:19460752   PMID:19615732   PMID:19665070  
PMID:19696924   PMID:19745842   PMID:19789179   PMID:19828735   PMID:20237156   PMID:20339440   PMID:20360068   PMID:20407419   PMID:20498086   PMID:20545767   PMID:20547757   PMID:20554795  
PMID:20558618   PMID:20676042   PMID:20861915   PMID:20935257   PMID:20936779   PMID:21327100   PMID:21328509   PMID:21335236   PMID:21423673   PMID:21467841   PMID:21813447   PMID:21873635  
PMID:21930948   PMID:21948299   PMID:22058212   PMID:22103895   PMID:22113938   PMID:22268729   PMID:22334672   PMID:22412018   PMID:22480613   PMID:22509482   PMID:22586326   PMID:22613470  
PMID:22863883   PMID:22928108   PMID:22929522   PMID:22945772   PMID:22990118   PMID:23028327   PMID:23102701   PMID:23246429   PMID:23427268   PMID:23468646   PMID:23523133   PMID:23531517  
PMID:23541576   PMID:23752268   PMID:23840580   PMID:23934736   PMID:23958061   PMID:23999921   PMID:24051001   PMID:24104479   PMID:24371226   PMID:24378760   PMID:24457600   PMID:24711643  
PMID:24739174   PMID:24927547   PMID:24927568   PMID:24951466   PMID:24981860   PMID:25036637   PMID:25145343   PMID:25510432   PMID:25544563   PMID:25562883   PMID:25609649   PMID:25693804  
PMID:25737280   PMID:25798074   PMID:25852164   PMID:25852190   PMID:26017032   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26389662   PMID:26496610   PMID:26638075   PMID:26675333  
PMID:26740045   PMID:26777405   PMID:26841866   PMID:26912792   PMID:26949739   PMID:27031510   PMID:27097363   PMID:27634302   PMID:27684187   PMID:27694926   PMID:27838340   PMID:27864780  
PMID:27880917   PMID:27890935   PMID:28190779   PMID:28192407   PMID:28210005   PMID:28221134   PMID:28443643   PMID:28514442   PMID:28630438   PMID:28675297   PMID:28776436   PMID:28934014  
PMID:29117863   PMID:29395067   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29872149   PMID:29899397   PMID:29961565   PMID:30021884   PMID:30463901   PMID:30543681  
PMID:30683868   PMID:30804502   PMID:30884312   PMID:30935371   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31375530   PMID:31396490   PMID:31550809   PMID:31586073  
PMID:31839598   PMID:31995728   PMID:32203420   PMID:32344865   PMID:32353859   PMID:32381579   PMID:32416067   PMID:32513696   PMID:32572027   PMID:32620764   PMID:32687490   PMID:32707033  
PMID:32780723   PMID:32788342   PMID:32877691   PMID:33022573   PMID:33060197   PMID:33097660   PMID:33111431   PMID:33239621   PMID:33284945   PMID:33360543   PMID:33397691   PMID:33462405  
PMID:33536335   PMID:33660365   PMID:33765414   PMID:33849972   PMID:33916271   PMID:33925480   PMID:33961781   PMID:34079125   PMID:34091597   PMID:34163069   PMID:34244565   PMID:34321240  
PMID:34373451   PMID:34597346   PMID:34627423   PMID:34831074   PMID:35032548   PMID:35044719   PMID:35096974   PMID:35140242   PMID:35167894   PMID:35182466   PMID:35198878   PMID:35256949  
PMID:35258401   PMID:35271311   PMID:35339191   PMID:35439318   PMID:35509820   PMID:35545047   PMID:35575683   PMID:35654790   PMID:35676246   PMID:35679425   PMID:35819319   PMID:35831314  
PMID:35844135   PMID:35850772   PMID:35944360   PMID:35970938   PMID:36057605   PMID:36138110   PMID:36215168   PMID:36282215   PMID:36373674   PMID:36526897   PMID:36604567   PMID:37071682  
PMID:37147424   PMID:37167062   PMID:37340423   PMID:37506885   PMID:37516964   PMID:37730801   PMID:37774976   PMID:37827155   PMID:38297188   PMID:38507240   PMID:38514841   PMID:38780165  
PMID:38940430   PMID:39358380   PMID:39480836  


Genomics

Comparative Map Data
NUP98
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38113,675,010 - 3,797,554 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl113,671,083 - 3,797,792 (-)EnsemblGRCh38hg38GRCh38
GRCh37113,696,240 - 3,818,784 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36113,652,816 - 3,775,468 (-)NCBINCBI36Build 36hg18NCBI36
Build 34113,652,816 - 3,775,468NCBI
Celera113,701,320 - 3,824,093 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef113,430,150 - 3,552,853 (-)NCBIHuRef
CHM1_1113,695,309 - 3,818,528 (-)NCBICHM1_1
T2T-CHM13v2.0113,740,382 - 3,862,891 (-)NCBIT2T-CHM13v2.0
Nup98
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397101,768,607 - 101,859,359 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7101,768,605 - 101,859,383 (-)EnsemblGRCm39 Ensembl
GRCm387102,119,400 - 102,210,166 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7102,119,398 - 102,210,176 (-)EnsemblGRCm38mm10GRCm38
MGSCv377109,282,717 - 109,358,634 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367102,008,024 - 102,083,941 (-)NCBIMGSCv36mm8
Celera7102,501,532 - 102,578,156 (-)NCBICelera
Cytogenetic Map7E2NCBI
cM Map754.71NCBI
Nup98
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81165,906,405 - 166,003,366 (-)NCBIGRCr8
mRatBN7.21156,494,423 - 156,591,415 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1156,494,423 - 156,591,415 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1164,472,406 - 164,569,303 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01171,652,494 - 171,749,393 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01164,530,067 - 164,627,102 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01167,213,866 - 167,308,851 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1167,213,866 - 167,308,851 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01173,402,761 - 173,497,459 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41159,598,048 - 159,696,720 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11159,712,571 - 159,775,713 (-)NCBI
Celera1154,562,755 - 154,659,380 (-)NCBICelera
Cytogenetic Map1q32NCBI
Nup98
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541419,499,406 - 19,607,075 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541419,499,577 - 19,607,075 (-)NCBIChiLan1.0ChiLan1.0
NUP98
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v295,940,414 - 6,063,306 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1115,179,925 - 5,302,842 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0113,553,379 - 3,669,367 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1113,660,482 - 3,782,552 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl113,661,568 - 3,767,443 (-)Ensemblpanpan1.1panPan2
NUP98
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12126,231,585 - 26,348,019 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2126,220,963 - 26,336,020 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2126,000,857 - 26,119,031 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02126,440,102 - 26,558,550 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2126,440,111 - 26,558,538 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12126,231,727 - 26,349,986 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02126,447,562 - 26,565,737 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02126,349,660 - 26,468,000 (-)NCBIUU_Cfam_GSD_1.0
Nup98
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494759,513,173 - 59,620,245 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364981,112,663 - 1,220,634 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364981,112,724 - 1,219,790 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUP98
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl96,319,650 - 6,419,660 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.196,319,616 - 6,419,652 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.297,103,733 - 7,180,578 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NUP98
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1162,924,514 - 63,050,060 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl162,925,050 - 63,050,111 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604362,849,965 - 62,977,060 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nup98
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248175,123,977 - 5,245,286 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248175,125,658 - 5,245,453 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NUP98
145 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 copy number gain See cases [RCV000053616] Chr11:3745061..7846057 [GRCh38]
Chr11:3766291..7867604 [GRCh37]
Chr11:3722867..7824180 [NCBI36]
Chr11:11p15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_005387.5(NUP98):c.2002C>T (p.Pro668Ser) single nucleotide variant Malignant melanoma [RCV000069346] Chr11:3723352 [GRCh38]
Chr11:3744582 [GRCh37]
Chr11:3701158 [NCBI36]
Chr11:11p15.4		 not provided
NM_005387.5(NUP98):c.1958C>T (p.Ser653Phe) single nucleotide variant Malignant melanoma [RCV000069347] Chr11:3723396 [GRCh38]
Chr11:3744626 [GRCh37]
Chr11:3701202 [NCBI36]
Chr11:11p15.4		 not provided
NM_016320.4(NUP98):c.3869C>T (p.Ser1290Phe) single nucleotide variant Malignant melanoma [RCV000062207] Chr11:3699222 [GRCh38]
Chr11:3720452 [GRCh37]
Chr11:3677028 [NCBI36]
Chr11:11p15.4		 not provided
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_016320.5(NUP98):c.3073C>T (p.Arg1025Cys) single nucleotide variant not specified [RCV004269028] Chr11:3705209 [GRCh38]
Chr11:3726439 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3 copy number gain See cases [RCV000141996] Chr11:3685244..4414881 [GRCh38]
Chr11:3706474..4436111 [GRCh37]
Chr11:3663050..4392687 [NCBI36]
Chr11:11p15.4		 uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.4(chr11:3629393-4111738)x3 copy number gain See cases [RCV000240195] Chr11:3629393..4111738 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000416348] Chr11:3676355 [GRCh38]
Chr11:3697585 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.4(chr11:3629582-4677492)x3 copy number gain See cases [RCV000511398] Chr11:3629582..4677492 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_016320.5(NUP98):c.5045T>C (p.Val1682Ala) single nucleotide variant not specified [RCV004291215] Chr11:3679582 [GRCh38]
Chr11:3700812 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2552C>G (p.Pro851Arg) single nucleotide variant not specified [RCV004309419] Chr11:3713843 [GRCh38]
Chr11:3735073 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4651G>A (p.Val1551Ile) single nucleotide variant not specified [RCV004323755] Chr11:3685998 [GRCh38]
Chr11:3707228 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
Single allele duplication not provided [RCV000677966] Chr11:3676830..3849140 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_016320.5(NUP98):c.253A>G (p.Thr85Ala) single nucleotide variant not provided [RCV000972473] Chr11:3778975 [GRCh38]
Chr11:3800205 [GRCh37]
Chr11:11p15.4		 benign
NM_016320.5(NUP98):c.1368G>A (p.Thr456=) single nucleotide variant not provided [RCV000903778] Chr11:3744549 [GRCh38]
Chr11:3765779 [GRCh37]
Chr11:11p15.4		 benign
NM_016320.5(NUP98):c.852C>G (p.Leu284=) single nucleotide variant not provided [RCV000901052] Chr11:3768677 [GRCh38]
Chr11:3789907 [GRCh37]
Chr11:11p15.4		 benign
NM_016320.5(NUP98):c.4035A>G (p.Leu1345=) single nucleotide variant not provided [RCV000926792] Chr11:3695581 [GRCh38]
Chr11:3716811 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.1409-6del deletion not provided [RCV000949768] Chr11:3735330 [GRCh38]
Chr11:3756560 [GRCh37]
Chr11:11p15.4		 benign
NM_016320.5(NUP98):c.2637G>A (p.Pro879=) single nucleotide variant Aganglionic megacolon [RCV000984788] Chr11:3712669 [GRCh38]
Chr11:3733899 [GRCh37]
Chr11:11p15.4		 pathogenic|uncertain significance
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_016320.5(NUP98):c.3065C>T (p.Ser1022Leu) single nucleotide variant not provided [RCV000882376] Chr11:3705217 [GRCh38]
Chr11:3726447 [GRCh37]
Chr11:11p15.4		 benign
NM_016320.5(NUP98):c.4283C>T (p.Ala1428Val) single nucleotide variant not provided [RCV000967856] Chr11:3693260 [GRCh38]
Chr11:3714490 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.5229T>C (p.Ser1743=) single nucleotide variant not provided [RCV000901051] Chr11:3676333 [GRCh38]
Chr11:3697563 [GRCh37]
Chr11:11p15.4		 benign
NM_016320.5(NUP98):c.2022A>C (p.Leu674Phe) single nucleotide variant not specified [RCV004308425] Chr11:3723281 [GRCh38]
Chr11:3744511 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2029C>T (p.Arg677Cys) single nucleotide variant not provided [RCV000952957] Chr11:3723274 [GRCh38]
Chr11:3744504 [GRCh37]
Chr11:11p15.4		 benign
NM_016320.5(NUP98):c.5198G>A (p.Arg1733His) single nucleotide variant not provided [RCV000907357] Chr11:3676364 [GRCh38]
Chr11:3697594 [GRCh37]
Chr11:11p15.4		 benign
NM_016320.5(NUP98):c.4236T>C (p.Ala1412=) single nucleotide variant not provided [RCV000981534] Chr11:3693307 [GRCh38]
Chr11:3714537 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.4904G>A (p.Arg1635Gln) single nucleotide variant not provided [RCV000891515] Chr11:3683214 [GRCh38]
Chr11:3704444 [GRCh37]
Chr11:11p15.4		 benign
GRCh37/hg19 11p15.4(chr11:3659968-3746449)x3 copy number gain not provided [RCV000994758] Chr11:3659968..3746449 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.4(chr11:3667691-4039971)x3 copy number gain not provided [RCV001006376] Chr11:3667691..4039971 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
t(11;12)(p15;p13) translocation Acute megakaryoblastic leukemia without down syndrome [RCV001293744] Chr11:3752809..3756420 [GRCh37]
Chr12:402336..404738 [GRCh37]
Chr11:11p15.4
Chr12:12p13.33		 pathogenic
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_016320.5(NUP98):c.5014T>C (p.Ser1672Pro) single nucleotide variant not specified [RCV001281371] Chr11:3679613 [GRCh38]
Chr11:3700843 [GRCh37]
Chr11:11p15.4		 benign
NM_016320.5(NUP98):c.3364A>G (p.Met1122Val) single nucleotide variant not specified [RCV004298749] Chr11:3702611 [GRCh38]
Chr11:3723841 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
NC_000011.9:g.(?_721044)_(3988932_?)dup duplication not provided [RCV003113442] Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_016320.5(NUP98):c.3031T>C (p.Ser1011Pro) single nucleotide variant not specified [RCV004306064] Chr11:3705251 [GRCh38]
Chr11:3726481 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_016320.5(NUP98):c.1349C>T (p.Ala450Val) single nucleotide variant not specified [RCV004146698] Chr11:3744568 [GRCh38]
Chr11:3765798 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3118G>A (p.Ala1040Thr) single nucleotide variant not specified [RCV004111724] Chr11:3702857 [GRCh38]
Chr11:3724087 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.3871C>T (p.Arg1291Cys) single nucleotide variant not specified [RCV004098171] Chr11:3699220 [GRCh38]
Chr11:3720450 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2093T>C (p.Leu698Pro) single nucleotide variant not specified [RCV004245677] Chr11:3723210 [GRCh38]
Chr11:3744440 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.874G>A (p.Ala292Thr) single nucleotide variant not specified [RCV004118171] Chr11:3768655 [GRCh38]
Chr11:3789885 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1679A>G (p.Asp560Gly) single nucleotide variant not specified [RCV004127267] Chr11:3731442 [GRCh38]
Chr11:3752672 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5041A>G (p.Arg1681Gly) single nucleotide variant not specified [RCV004199565] Chr11:3679586 [GRCh38]
Chr11:3700816 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3062C>T (p.Ser1021Leu) single nucleotide variant not specified [RCV004219316] Chr11:3705220 [GRCh38]
Chr11:3726450 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1936A>G (p.Ile646Val) single nucleotide variant not specified [RCV004231169] Chr11:3723367 [GRCh38]
Chr11:3744597 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1409C>G (p.Ala470Gly) single nucleotide variant not specified [RCV004118049] Chr11:3735324 [GRCh38]
Chr11:3756554 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2983C>T (p.Arg995Cys) single nucleotide variant not specified [RCV004113497] Chr11:3705299 [GRCh38]
Chr11:3726529 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1238G>C (p.Gly413Ala) single nucleotide variant not specified [RCV004171060] Chr11:3753345 [GRCh38]
Chr11:3774575 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2890G>T (p.Ala964Ser) single nucleotide variant not specified [RCV004105703] Chr11:3706480 [GRCh38]
Chr11:3727710 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2761G>A (p.Glu921Lys) single nucleotide variant not specified [RCV004149308] Chr11:3706609 [GRCh38]
Chr11:3727839 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5063A>G (p.His1688Arg) single nucleotide variant not specified [RCV004207810] Chr11:3679564 [GRCh38]
Chr11:3700794 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.1532A>C (p.Lys511Thr) single nucleotide variant not specified [RCV004126693] Chr11:3735201 [GRCh38]
Chr11:3756431 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1288T>A (p.Ser430Thr) single nucleotide variant not specified [RCV004213903] Chr11:3744629 [GRCh38]
Chr11:3765859 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5353C>T (p.Arg1785Cys) single nucleotide variant not specified [RCV004143587] Chr11:3676209 [GRCh38]
Chr11:3697439 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3451A>G (p.Asn1151Asp) single nucleotide variant not specified [RCV004230526] Chr11:3702524 [GRCh38]
Chr11:3723754 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5134C>T (p.Arg1712Trp) single nucleotide variant not specified [RCV004211681] Chr11:3676560 [GRCh38]
Chr11:3697790 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3344T>G (p.Leu1115Trp) single nucleotide variant not specified [RCV004173017] Chr11:3702631 [GRCh38]
Chr11:3723861 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.104G>C (p.Gly35Ala) single nucleotide variant not specified [RCV004179878] Chr11:3779230 [GRCh38]
Chr11:3800460 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2114T>C (p.Ile705Thr) single nucleotide variant not specified [RCV004185124] Chr11:3723189 [GRCh38]
Chr11:3744419 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1928C>G (p.Thr643Ser) single nucleotide variant not specified [RCV004195633] Chr11:3723375 [GRCh38]
Chr11:3744605 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2213A>G (p.Asn738Ser) single nucleotide variant not specified [RCV004599570] Chr11:3720759 [GRCh38]
Chr11:3741989 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3409G>T (p.Ala1137Ser) single nucleotide variant not specified [RCV004196375] Chr11:3702566 [GRCh38]
Chr11:3723796 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2636C>T (p.Pro879Leu) single nucleotide variant not specified [RCV004203459] Chr11:3712670 [GRCh38]
Chr11:3733900 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2711C>T (p.Ala904Val) single nucleotide variant not specified [RCV004176094] Chr11:3712595 [GRCh38]
Chr11:3733825 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.307T>G (p.Ser103Ala) single nucleotide variant not specified [RCV004154655] Chr11:3778921 [GRCh38]
Chr11:3800151 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3019C>G (p.Gln1007Glu) single nucleotide variant not specified [RCV004172430] Chr11:3705263 [GRCh38]
Chr11:3726493 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.812G>T (p.Gly271Val) single nucleotide variant not specified [RCV004075621] Chr11:3768717 [GRCh38]
Chr11:3789947 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5389G>A (p.Val1797Ile) single nucleotide variant not specified [RCV004152678] Chr11:3676173 [GRCh38]
Chr11:3697403 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1393C>T (p.Pro465Ser) single nucleotide variant not specified [RCV004274164] Chr11:3744524 [GRCh38]
Chr11:3765754 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2926A>G (p.Ile976Val) single nucleotide variant not specified [RCV004263131] Chr11:3705356 [GRCh38]
Chr11:3726586 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.467C>T (p.Ala156Val) single nucleotide variant not specified [RCV004269955] Chr11:3775910 [GRCh38]
Chr11:3797140 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5215C>T (p.Arg1739Cys) single nucleotide variant not specified [RCV004253394] Chr11:3676347 [GRCh38]
Chr11:3697577 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3892A>G (p.Thr1298Ala) single nucleotide variant not specified [RCV004250118] Chr11:3699199 [GRCh38]
Chr11:3720429 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.3502G>A (p.Ala1168Thr) single nucleotide variant not specified [RCV004278003] Chr11:3702473 [GRCh38]
Chr11:3723703 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.296C>T (p.Thr99Ile) single nucleotide variant not specified [RCV004269954] Chr11:3778932 [GRCh38]
Chr11:3800162 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2126C>T (p.Ser709Phe) single nucleotide variant not specified [RCV004276125] Chr11:3723177 [GRCh38]
Chr11:3744407 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2281G>A (p.Glu761Lys) single nucleotide variant not specified [RCV004249369] Chr11:3719530 [GRCh38]
Chr11:3740760 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1927A>G (p.Thr643Ala) single nucleotide variant not specified [RCV004323910] Chr11:3723376 [GRCh38]
Chr11:3744606 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1156A>G (p.Thr386Ala) single nucleotide variant not specified [RCV004303965] Chr11:3760557 [GRCh38]
Chr11:3781787 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2698C>T (p.Pro900Ser) single nucleotide variant not specified [RCV004347735] Chr11:3712608 [GRCh38]
Chr11:3733838 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3453T>A (p.Asn1151Lys) single nucleotide variant not specified [RCV004361899] Chr11:3702522 [GRCh38]
Chr11:3723752 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3217C>T (p.Pro1073Ser) single nucleotide variant not specified [RCV004349085] Chr11:3702758 [GRCh38]
Chr11:3723988 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2458A>G (p.Ile820Val) single nucleotide variant not specified [RCV004359737] Chr11:3713937 [GRCh38]
Chr11:3735167 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1267+3A>G single nucleotide variant not provided [RCV003394771] Chr11:3753313 [GRCh38]
Chr11:3774543 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.2640T>C (p.Ser880=) single nucleotide variant not provided [RCV003394770] Chr11:3712666 [GRCh38]
Chr11:3733896 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_016320.5(NUP98):c.4124A>C (p.Gln1375Pro) single nucleotide variant not specified [RCV004488680] Chr11:3695492 [GRCh38]
Chr11:3716722 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.343A>G (p.Thr115Ala) single nucleotide variant not specified [RCV004488676] Chr11:3778885 [GRCh38]
Chr11:3800115 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3497C>T (p.Pro1166Leu) single nucleotide variant not specified [RCV004488678] Chr11:3702478 [GRCh38]
Chr11:3723708 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3753C>G (p.His1251Gln) single nucleotide variant not specified [RCV004488679] Chr11:3699338 [GRCh38]
Chr11:3720568 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4201G>A (p.Val1401Met) single nucleotide variant not specified [RCV004488682] Chr11:3693342 [GRCh38]
Chr11:3714572 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.484A>G (p.Ile162Val) single nucleotide variant not specified [RCV004488685] Chr11:3775893 [GRCh38]
Chr11:3797123 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4942G>A (p.Asp1648Asn) single nucleotide variant not specified [RCV004488686] Chr11:3679685 [GRCh38]
Chr11:3700915 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5279G>A (p.Arg1760Gln) single nucleotide variant not specified [RCV004488690] Chr11:3676283 [GRCh38]
Chr11:3697513 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.633C>G (p.Asn211Lys) single nucleotide variant not specified [RCV004488692] Chr11:3771899 [GRCh38]
Chr11:3793129 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2131C>A (p.His711Asn) single nucleotide variant not specified [RCV004488665] Chr11:3723172 [GRCh38]
Chr11:3744402 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2230A>G (p.Ile744Val) single nucleotide variant not specified [RCV004488666] Chr11:3720742 [GRCh38]
Chr11:3741972 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3020A>C (p.Gln1007Pro) single nucleotide variant not specified [RCV004488669] Chr11:3705262 [GRCh38]
Chr11:3726492 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3200C>T (p.Ser1067Phe) single nucleotide variant not specified [RCV004488673] Chr11:3702775 [GRCh38]
Chr11:3724005 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4139G>A (p.Arg1380His) single nucleotide variant not specified [RCV004488681] Chr11:3695477 [GRCh38]
Chr11:3716707 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4469A>G (p.Asn1490Ser) single nucleotide variant not specified [RCV004488684] Chr11:3686180 [GRCh38]
Chr11:3707410 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.913A>G (p.Thr305Ala) single nucleotide variant not specified [RCV004488693] Chr11:3768616 [GRCh38]
Chr11:3789846 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1867C>G (p.Pro623Ala) single nucleotide variant not specified [RCV004488662] Chr11:3723436 [GRCh38]
Chr11:3744666 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2866C>G (p.Pro956Ala) single nucleotide variant not specified [RCV004488667] Chr11:3706504 [GRCh38]
Chr11:3727734 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3155G>A (p.Arg1052His) single nucleotide variant not specified [RCV004488670] Chr11:3702820 [GRCh38]
Chr11:3724050 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3248C>T (p.Pro1083Leu) single nucleotide variant not specified [RCV004488674] Chr11:3702727 [GRCh38]
Chr11:3723957 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5181G>C (p.Gln1727His) single nucleotide variant not specified [RCV004488689] Chr11:3676513 [GRCh38]
Chr11:3697743 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1899T>A (p.Asp633Glu) single nucleotide variant not specified [RCV004488664] Chr11:3723404 [GRCh38]
Chr11:3744634 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3173C>T (p.Ser1058Phe) single nucleotide variant not specified [RCV004488672] Chr11:3702802 [GRCh38]
Chr11:3724032 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3455A>C (p.His1152Pro) single nucleotide variant not specified [RCV004488677] Chr11:3702520 [GRCh38]
Chr11:3723750 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4376G>A (p.Cys1459Tyr) single nucleotide variant not specified [RCV004488683] Chr11:3691425 [GRCh38]
Chr11:3712655 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.5378G>A (p.Arg1793Gln) single nucleotide variant not specified [RCV004488691] Chr11:3676184 [GRCh38]
Chr11:3697414 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3326A>G (p.Tyr1109Cys) single nucleotide variant not specified [RCV004488675] Chr11:3702649 [GRCh38]
Chr11:3723879 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5107C>A (p.His1703Asn) single nucleotide variant not specified [RCV004488687] Chr11:3676587 [GRCh38]
Chr11:3697817 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.879A>G (p.Thr293=) single nucleotide variant not provided [RCV003885056] Chr11:3768650 [GRCh38]
Chr11:3789880 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.801A>T (p.Gly267=) single nucleotide variant not provided [RCV004546180] Chr11:3768728 [GRCh38]
Chr11:3789958 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.2888T>C (p.Ile963Thr) single nucleotide variant not specified [RCV004652780] Chr11:3706482 [GRCh38]
Chr11:3727712 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5341A>G (p.Met1781Val) single nucleotide variant not specified [RCV004638915] Chr11:3676221 [GRCh38]
Chr11:3697451 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2581T>G (p.Ser861Ala) single nucleotide variant not specified [RCV004638919] Chr11:3712725 [GRCh38]
Chr11:3733955 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1469G>A (p.Ser490Asn) single nucleotide variant not specified [RCV004638921] Chr11:3735264 [GRCh38]
Chr11:3756494 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2201C>T (p.Ala734Val) single nucleotide variant not specified [RCV004638918] Chr11:3720771 [GRCh38]
Chr11:3742001 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1976A>G (p.Asn659Ser) single nucleotide variant not specified [RCV004638920] Chr11:3723327 [GRCh38]
Chr11:3744557 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4825A>G (p.Met1609Val) single nucleotide variant not specified [RCV004638917] Chr11:3683293 [GRCh38]
Chr11:3704523 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4712G>A (p.Arg1571Gln) single nucleotide variant not specified [RCV004652777] Chr11:3683406 [GRCh38]
Chr11:3704636 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3810C>G (p.Asp1270Glu) single nucleotide variant not specified [RCV004638914] Chr11:3699281 [GRCh38]
Chr11:3720511 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1003A>G (p.Thr335Ala) single nucleotide variant not specified [RCV004652775] Chr11:3762985 [GRCh38]
Chr11:3784215 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1988A>C (p.Asn663Thr) single nucleotide variant not specified [RCV004652778] Chr11:3723315 [GRCh38]
Chr11:3744545 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5315G>A (p.Arg1772Gln) single nucleotide variant not specified [RCV004638916] Chr11:3676247 [GRCh38]
Chr11:3697477 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4130A>G (p.Glu1377Gly) single nucleotide variant not specified [RCV004832746] Chr11:3695486 [GRCh38]
Chr11:3716716 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1810C>G (p.Leu604Val) single nucleotide variant not specified [RCV004832745] Chr11:3725140 [GRCh38]
Chr11:3746370 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.892A>G (p.Thr298Ala) single nucleotide variant not specified [RCV004835498] Chr11:3768637 [GRCh38]
Chr11:3789867 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2635C>T (p.Pro879Ser) single nucleotide variant not specified [RCV004835513] Chr11:3712671 [GRCh38]
Chr11:3733901 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.333A>C (p.Gln111His) single nucleotide variant not specified [RCV004835518] Chr11:3778895 [GRCh38]
Chr11:3800125 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2272A>G (p.Ile758Val) single nucleotide variant not specified [RCV004835519] Chr11:3719539 [GRCh38]
Chr11:3740769 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3935G>A (p.Ser1312Asn) single nucleotide variant not specified [RCV004835505] Chr11:3699156 [GRCh38]
Chr11:3720386 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.2881A>G (p.Thr961Ala) single nucleotide variant not specified [RCV004835500] Chr11:3706489 [GRCh38]
Chr11:3727719 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4459T>C (p.Tyr1487His) single nucleotide variant not specified [RCV004835516] Chr11:3686190 [GRCh38]
Chr11:3707420 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3847C>G (p.Leu1283Val) single nucleotide variant not specified [RCV004835512] Chr11:3699244 [GRCh38]
Chr11:3720474 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4001A>G (p.Gln1334Arg) single nucleotide variant not specified [RCV004835511] Chr11:3699090 [GRCh38]
Chr11:3720320 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3026T>C (p.Ile1009Thr) single nucleotide variant not specified [RCV004835510] Chr11:3705256 [GRCh38]
Chr11:3726486 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2816A>G (p.Glu939Gly) single nucleotide variant not specified [RCV004835508] Chr11:3706554 [GRCh38]
Chr11:3727784 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3688C>A (p.His1230Asn) single nucleotide variant not specified [RCV004835507] Chr11:3700664 [GRCh38]
Chr11:3721894 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.5314C>T (p.Arg1772Trp) single nucleotide variant not specified [RCV004835504] Chr11:3676248 [GRCh38]
Chr11:3697478 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3287G>A (p.Arg1096Lys) single nucleotide variant not specified [RCV004835503] Chr11:3702688 [GRCh38]
Chr11:3723918 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4747G>A (p.Ala1583Thr) single nucleotide variant not specified [RCV004835502] Chr11:3683371 [GRCh38]
Chr11:3704601 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.3415A>G (p.Ser1139Gly) single nucleotide variant not specified [RCV004835499] Chr11:3702560 [GRCh38]
Chr11:3723790 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1651A>G (p.Thr551Ala) single nucleotide variant not specified [RCV004835506] Chr11:3731470 [GRCh38]
Chr11:3752700 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.250T>A (p.Ser84Thr) single nucleotide variant not specified [RCV004835509] Chr11:3778978 [GRCh38]
Chr11:3800208 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4415G>A (p.Arg1472Gln) single nucleotide variant not specified [RCV004832748] Chr11:3691386 [GRCh38]
Chr11:3712616 [GRCh37]
Chr11:11p15.4		 likely benign
NM_016320.5(NUP98):c.143C>A (p.Thr48Asn) single nucleotide variant not specified [RCV004832747] Chr11:3779191 [GRCh38]
Chr11:3800421 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.4256T>A (p.Leu1419His) single nucleotide variant not specified [RCV004832744] Chr11:3693287 [GRCh38]
Chr11:3714517 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.1905T>G (p.Asp635Glu) single nucleotide variant not specified [RCV004835517] Chr11:3723398 [GRCh38]
Chr11:3744628 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.845C>G (p.Thr282Ser) single nucleotide variant not specified [RCV004835501] Chr11:3768684 [GRCh38]
Chr11:3789914 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_016320.5(NUP98):c.2423G>A (p.Gly808Glu) single nucleotide variant not specified [RCV004835514] Chr11:3713972 [GRCh38]
Chr11:3735202 [GRCh37]
Chr11:11p15.4		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4161
Count of miRNA genes:1199
Interacting mature miRNAs:1492
Transcripts:ENST00000324932, ENST00000355260, ENST00000359171, ENST00000397004, ENST00000397007, ENST00000397013, ENST00000429801, ENST00000461047, ENST00000469881, ENST00000482690, ENST00000483285, ENST00000488828, ENST00000524563, ENST00000527104, ENST00000529063, ENST00000529379, ENST00000530345, ENST00000530516, ENST00000532475, ENST00000533346
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597039140GWAS1135214_Hobesity QTL GWAS1135214 (human)0.0000004obesity1136895143689515Human
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human
1559107SCL32_HSerum cholesterol level QTL 32 (human)3.27Lipid levelLDL cholesterol11289243028892430Human
597243343GWAS1339417_HIGF-1 measurement QTL GWAS1339417 (human)9e-13IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)1137869953786996Human
406916476GWAS565452_Hdihydroxy docosatrienoic acid measurement QTL GWAS565452 (human)0.000007dihydroxy docosatrienoic acid measurement1137010743701075Human
1559113SCL31_HSerum cholesterol level QTL 31 (human)3.72Lipid levelLDL cholesterol11289243028892430Human

Markers in Region
D11S1883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371163,373,733 - 63,373,984UniSTSGRCh37
GRCh37113,742,143 - 3,742,341UniSTSGRCh37
Build 361163,130,309 - 63,130,560RGDNCBI36
Celera113,746,830 - 3,747,034UniSTS
Celera1160,697,745 - 60,697,996RGD
Cytogenetic Map11p15.5UniSTS
HuRef1159,703,030 - 59,703,283UniSTS
HuRef113,476,027 - 3,476,231UniSTS
Marshfield Genetic Map118.64UniSTS
Marshfield Genetic Map1165.05RGD
Genethon Genetic Map118.3UniSTS
deCODE Assembly Map115.33UniSTS
Stanford-G3 RH Map11113.0UniSTS
GeneMap99-GB4 RH Map11232.56UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map1113.2UniSTS
GeneMap99-G3 RH Map11113.0UniSTS
G29170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,696,345 - 3,696,510UniSTSGRCh37
Build 36113,652,921 - 3,653,086RGDNCBI36
Celera113,701,425 - 3,701,590RGD
Cytogenetic Map11p15.5UniSTS
HuRef113,430,255 - 3,430,420UniSTS
RH18062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,733,233 - 3,733,481UniSTSGRCh37
Build 36113,689,809 - 3,690,057RGDNCBI36
Celera113,737,921 - 3,738,169RGD
Cytogenetic Map11p15.5UniSTS
HuRef113,467,117 - 3,467,365UniSTS
GeneMap99-GB4 RH Map1139.58UniSTS
RH81020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,696,277 - 3,696,477UniSTSGRCh37
Build 36113,652,853 - 3,653,053RGDNCBI36
Celera113,701,357 - 3,701,557RGD
Cytogenetic Map11p15.5UniSTS
HuRef113,430,187 - 3,430,387UniSTS
G59577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,714,426 - 3,714,530UniSTSGRCh37
Build 36113,671,002 - 3,671,106RGDNCBI36
Celera113,719,080 - 3,719,184RGD
Cytogenetic Map11p15.5UniSTS
HuRef113,448,339 - 3,448,443UniSTS
TNG Radiation Hybrid Map111549.0UniSTS
D11S1254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,699,060 - 3,699,479UniSTSGRCh37
Build 36113,655,636 - 3,656,055RGDNCBI36
Celera113,704,141 - 3,704,560RGD
Cytogenetic Map11p15.5UniSTS
HuRef113,432,970 - 3,433,389UniSTS
D11S3624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,721,953 - 3,722,070UniSTSGRCh37
Build 36113,678,529 - 3,678,646RGDNCBI36
Celera113,726,669 - 3,726,786RGD
Cytogenetic Map11p15.5UniSTS
HuRef113,455,856 - 3,455,973UniSTS
SHGC-106541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,733,572 - 3,733,688UniSTSGRCh37
Build 36113,690,148 - 3,690,264RGDNCBI36
Celera113,738,260 - 3,738,376RGD
Cytogenetic Map11p15.5UniSTS
HuRef113,467,456 - 3,467,572UniSTS
TNG Radiation Hybrid Map111570.0UniSTS
SHGC-150849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,742,092 - 3,742,393UniSTSGRCh37
Build 36113,698,668 - 3,698,969RGDNCBI36
Celera113,746,779 - 3,747,086RGD
Cytogenetic Map11p15.5UniSTS
HuRef113,475,976 - 3,476,283UniSTS
TNG Radiation Hybrid Map111562.0UniSTS
G30118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,696,276 - 3,696,397UniSTSGRCh37
Build 36113,652,852 - 3,652,973RGDNCBI36
Celera113,701,356 - 3,701,477RGD
Cytogenetic Map11p15.5UniSTS
HuRef113,430,186 - 3,430,307UniSTS
RH48599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,714,426 - 3,714,545UniSTSGRCh37
Build 36113,671,002 - 3,671,121RGDNCBI36
Celera113,719,080 - 3,719,199RGD
Cytogenetic Map11p15.5UniSTS
HuRef113,448,339 - 3,448,458UniSTS
GeneMap99-GB4 RH Map1139.27UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001365125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_157589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_157590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_157591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB038344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB040538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC060812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF071076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF071077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF231130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI436199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG773331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB084013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU847959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U41815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000324932   ⟹   ENSP00000316032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,019 - 3,797,554 (-)Ensembl
Ensembl Acc Id: ENST00000355260   ⟹   ENSP00000347404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,030 - 3,797,792 (-)Ensembl
Ensembl Acc Id: ENST00000359171   ⟹   ENSP00000352091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,011 - 3,797,792 (-)Ensembl
Ensembl Acc Id: ENST00000397004   ⟹   ENSP00000380199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,711,553 - 3,797,561 (-)Ensembl
Ensembl Acc Id: ENST00000397007   ⟹   ENSP00000380202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,711,553 - 3,797,554 (-)Ensembl
Ensembl Acc Id: ENST00000397013   ⟹   ENSP00000380208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,731,483 - 3,768,680 (-)Ensembl
Ensembl Acc Id: ENST00000429801   ⟹   ENSP00000413146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,878 - 3,706,535 (-)Ensembl
Ensembl Acc Id: ENST00000461047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,760,141 - 3,762,960 (-)Ensembl
Ensembl Acc Id: ENST00000469881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,084 - 3,681,068 (-)Ensembl
Ensembl Acc Id: ENST00000482690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,676,269 - 3,676,710 (-)Ensembl
Ensembl Acc Id: ENST00000483285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,698,929 - 3,797,561 (-)Ensembl
Ensembl Acc Id: ENST00000488828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,695,471 - 3,697,260 (-)Ensembl
Ensembl Acc Id: ENST00000524563   ⟹   ENSP00000433515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,679,638 - 3,695,558 (-)Ensembl
Ensembl Acc Id: ENST00000527104   ⟹   ENSP00000436226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,030 - 3,797,554 (-)Ensembl
Ensembl Acc Id: ENST00000529063   ⟹   ENSP00000433226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,031 - 3,797,561 (-)Ensembl
Ensembl Acc Id: ENST00000529379   ⟹   ENSP00000432142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,026 - 3,797,561 (-)Ensembl
Ensembl Acc Id: ENST00000530345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,693,057 - 3,695,565 (-)Ensembl
Ensembl Acc Id: ENST00000530516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,719,488 - 3,721,039 (-)Ensembl
Ensembl Acc Id: ENST00000532475   ⟹   ENSP00000434698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,775,894 - 3,797,552 (-)Ensembl
Ensembl Acc Id: ENST00000533346   ⟹   ENSP00000432275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,671,083 - 3,679,687 (-)Ensembl
Ensembl Acc Id: ENST00000650171   ⟹   ENSP00000497709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,031 - 3,797,561 (-)Ensembl
Ensembl Acc Id: ENST00000700595   ⟹   ENSP00000515086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,030 - 3,723,202 (-)Ensembl
Ensembl Acc Id: ENST00000700596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,030 - 3,753,733 (-)Ensembl
Ensembl Acc Id: ENST00000700597   ⟹   ENSP00000515087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,030 - 3,797,507 (-)Ensembl
Ensembl Acc Id: ENST00000700598   ⟹   ENSP00000515088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,030 - 3,797,548 (-)Ensembl
Ensembl Acc Id: ENST00000700599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,031 - 3,697,711 (-)Ensembl
Ensembl Acc Id: ENST00000700600   ⟹   ENSP00000515089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,031 - 3,700,716 (-)Ensembl
Ensembl Acc Id: ENST00000700601   ⟹   ENSP00000515090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,078 - 3,797,561 (-)Ensembl
Ensembl Acc Id: ENST00000700602   ⟹   ENSP00000515091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,129 - 3,797,548 (-)Ensembl
Ensembl Acc Id: ENST00000700603   ⟹   ENSP00000515092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,675,888 - 3,797,521 (-)Ensembl
Ensembl Acc Id: ENST00000700604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,711,575 - 3,753,743 (-)Ensembl
Ensembl Acc Id: ENST00000700605   ⟹   ENSP00000515093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,711,575 - 3,782,089 (-)Ensembl
Ensembl Acc Id: ENST00000700606   ⟹   ENSP00000515094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,711,575 - 3,793,931 (-)Ensembl
Ensembl Acc Id: ENST00000700607   ⟹   ENSP00000515095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,711,575 - 3,797,452 (-)Ensembl
Ensembl Acc Id: ENST00000700608   ⟹   ENSP00000515096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,711,882 - 3,797,561 (-)Ensembl
Ensembl Acc Id: ENST00000700609   ⟹   ENSP00000515097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,748,846 - 3,797,561 (-)Ensembl
RefSeq Acc Id: NM_001365125   ⟹   NP_001352054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,675,019 - 3,797,554 (-)NCBI
T2T-CHM13v2.0113,740,391 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365126   ⟹   NP_001352055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,675,019 - 3,797,554 (-)NCBI
T2T-CHM13v2.0113,740,391 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365127   ⟹   NP_001352056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,675,019 - 3,797,554 (-)NCBI
T2T-CHM13v2.0113,740,391 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365128   ⟹   NP_001352057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,675,019 - 3,797,554 (-)NCBI
T2T-CHM13v2.0113,740,391 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365129   ⟹   NP_001352058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,675,019 - 3,797,554 (-)NCBI
T2T-CHM13v2.0113,740,391 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005387   ⟹   NP_005378
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,711,553 - 3,797,554 (-)NCBI
GRCh37113,696,240 - 3,819,022 (-)ENTREZGENE
Build 36113,689,635 - 3,775,468 (-)NCBI Archive
HuRef113,430,150 - 3,552,853 (-)ENTREZGENE
CHM1_1113,732,260 - 3,818,528 (-)NCBI
T2T-CHM13v2.0113,776,893 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016320   ⟹   NP_057404
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,675,019 - 3,797,554 (-)NCBI
GRCh37113,696,240 - 3,819,022 (-)NCBI
Build 36113,652,816 - 3,775,468 (-)NCBI Archive
HuRef113,430,150 - 3,552,853 (-)ENTREZGENE
CHM1_1113,695,309 - 3,818,528 (-)NCBI
T2T-CHM13v2.0113,740,391 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NM_139131   ⟹   NP_624357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,711,553 - 3,797,554 (-)NCBI
GRCh37113,696,240 - 3,819,022 (-)ENTREZGENE
Build 36113,689,635 - 3,775,468 (-)NCBI Archive
HuRef113,430,150 - 3,552,853 (-)ENTREZGENE
CHM1_1113,732,260 - 3,818,528 (-)NCBI
T2T-CHM13v2.0113,776,893 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NM_139132   ⟹   NP_624358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,675,019 - 3,797,554 (-)NCBI
GRCh37113,696,240 - 3,819,022 (-)NCBI
Build 36113,652,816 - 3,775,468 (-)NCBI Archive
HuRef113,430,150 - 3,552,853 (-)ENTREZGENE
CHM1_1113,695,309 - 3,818,528 (-)NCBI
T2T-CHM13v2.0113,740,391 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NR_157589
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,675,019 - 3,797,554 (-)NCBI
T2T-CHM13v2.0113,740,391 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NR_157590
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,675,019 - 3,797,554 (-)NCBI
T2T-CHM13v2.0113,740,391 - 3,862,891 (-)NCBI
Sequence:
RefSeq Acc Id: NR_157591
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,675,010 - 3,797,546 (-)NCBI
T2T-CHM13v2.0113,740,382 - 3,862,883 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001352054 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352055 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352056 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352057 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352058 (Get FASTA)   NCBI Sequence Viewer  
  NP_005378 (Get FASTA)   NCBI Sequence Viewer  
  NP_057404 (Get FASTA)   NCBI Sequence Viewer  
  NP_624357 (Get FASTA)   NCBI Sequence Viewer  
  NP_624358 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50366 (Get FASTA)   NCBI Sequence Viewer  
  AAD22395 (Get FASTA)   NCBI Sequence Viewer  
  AAD22396 (Get FASTA)   NCBI Sequence Viewer  
  AAF19342 (Get FASTA)   NCBI Sequence Viewer  
  AAH12906 (Get FASTA)   NCBI Sequence Viewer  
  AAH41136 (Get FASTA)   NCBI Sequence Viewer  
  AAL56659 (Get FASTA)   NCBI Sequence Viewer  
  AAP36013 (Get FASTA)   NCBI Sequence Viewer  
  AMR44574 (Get FASTA)   NCBI Sequence Viewer  
  BAB11850 (Get FASTA)   NCBI Sequence Viewer  
  BAB18537 (Get FASTA)   NCBI Sequence Viewer  
  BAF85571 (Get FASTA)   NCBI Sequence Viewer  
  BAG63020 (Get FASTA)   NCBI Sequence Viewer  
  CAB63736 (Get FASTA)   NCBI Sequence Viewer  
  CAB70842 (Get FASTA)   NCBI Sequence Viewer  
  EAX02561 (Get FASTA)   NCBI Sequence Viewer  
  EAX02562 (Get FASTA)   NCBI Sequence Viewer  
  EAX02563 (Get FASTA)   NCBI Sequence Viewer  
  EAX02564 (Get FASTA)   NCBI Sequence Viewer  
  EAX02565 (Get FASTA)   NCBI Sequence Viewer  
  EAX02566 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000316032
  ENSP00000316032.7
  ENSP00000347404
  ENSP00000347404.3
  ENSP00000352091
  ENSP00000352091.5
  ENSP00000380199
  ENSP00000380199.4
  ENSP00000380202
  ENSP00000380202.4
  ENSP00000380208.2
  ENSP00000413146.1
  ENSP00000432142
  ENSP00000432142.2
  ENSP00000432275.1
  ENSP00000433226.2
  ENSP00000433515.1
  ENSP00000434698.1
  ENSP00000436226
  ENSP00000436226.2
  ENSP00000497709.1
  ENSP00000515086.1
  ENSP00000515087.1
  ENSP00000515088
  ENSP00000515088.1
  ENSP00000515089.1
  ENSP00000515090.1
  ENSP00000515091.1
  ENSP00000515092.1
  ENSP00000515093.1
  ENSP00000515094.1
  ENSP00000515095.1
  ENSP00000515096.1
  ENSP00000515097.1
GenBank Protein P52948 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_624358   ⟸   NM_139132
- Peptide Label: isoform 4
- UniProtKB: A0A8V8TQF7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_057404   ⟸   NM_016320
- Peptide Label: isoform 1 precursor
- UniProtKB: A0A8V8TQF7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_624357   ⟸   NM_139131
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A8V8TQG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005378   ⟸   NM_005387
- Peptide Label: isoform 3 precursor
- UniProtKB: A8KA17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001352055   ⟸   NM_001365126
- Peptide Label: isoform 6 precursor
- UniProtKB: Q9Y6J4 (UniProtKB/Swiss-Prot),   Q9UHX0 (UniProtKB/Swiss-Prot),   Q9UF57 (UniProtKB/Swiss-Prot),   Q9NT02 (UniProtKB/Swiss-Prot),   Q9H3Q4 (UniProtKB/Swiss-Prot),   Q96E54 (UniProtKB/Swiss-Prot),   Q8WYB0 (UniProtKB/Swiss-Prot),   Q8IUT2 (UniProtKB/Swiss-Prot),   P52948 (UniProtKB/Swiss-Prot),   Q9Y6J5 (UniProtKB/Swiss-Prot),   A0A8V8TQF7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352057   ⟸   NM_001365128
- Peptide Label: isoform 8 precursor
- UniProtKB: A0A8V8TR21 (UniProtKB/TrEMBL),   A0A8V8TQF7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352056   ⟸   NM_001365127
- Peptide Label: isoform 7 precursor
- UniProtKB: H0YEN4 (UniProtKB/TrEMBL),   A0A8V8TQF7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352058   ⟸   NM_001365129
- Peptide Label: isoform 9
- UniProtKB: H0YCR0 (UniProtKB/TrEMBL),   A0A8V8TQF7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352054   ⟸   NM_001365125
- Peptide Label: isoform 5
- UniProtKB: A0A8V8TQF7 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000352091   ⟸   ENST00000359171
Ensembl Acc Id: ENSP00000497709   ⟸   ENST00000650171
Ensembl Acc Id: ENSP00000434698   ⟸   ENST00000532475
Ensembl Acc Id: ENSP00000432275   ⟸   ENST00000533346
Ensembl Acc Id: ENSP00000413146   ⟸   ENST00000429801
Ensembl Acc Id: ENSP00000316032   ⟸   ENST00000324932
Ensembl Acc Id: ENSP00000433515   ⟸   ENST00000524563
Ensembl Acc Id: ENSP00000347404   ⟸   ENST00000355260
Ensembl Acc Id: ENSP00000436226   ⟸   ENST00000527104
Ensembl Acc Id: ENSP00000432142   ⟸   ENST00000529379
Ensembl Acc Id: ENSP00000380202   ⟸   ENST00000397007
Ensembl Acc Id: ENSP00000380199   ⟸   ENST00000397004
Ensembl Acc Id: ENSP00000380208   ⟸   ENST00000397013
Ensembl Acc Id: ENSP00000433226   ⟸   ENST00000529063
Ensembl Acc Id: ENSP00000515095   ⟸   ENST00000700607
Ensembl Acc Id: ENSP00000515087   ⟸   ENST00000700597
Ensembl Acc Id: ENSP00000515094   ⟸   ENST00000700606
Ensembl Acc Id: ENSP00000515092   ⟸   ENST00000700603
Ensembl Acc Id: ENSP00000515097   ⟸   ENST00000700609
Ensembl Acc Id: ENSP00000515086   ⟸   ENST00000700595
Ensembl Acc Id: ENSP00000515090   ⟸   ENST00000700601
Ensembl Acc Id: ENSP00000515093   ⟸   ENST00000700605
Ensembl Acc Id: ENSP00000515096   ⟸   ENST00000700608
Ensembl Acc Id: ENSP00000515091   ⟸   ENST00000700602
Ensembl Acc Id: ENSP00000515088   ⟸   ENST00000700598
Ensembl Acc Id: ENSP00000515089   ⟸   ENST00000700600
Protein Domains
AWS   Nuclear pore complex protein NUP96 C-terminal   Peptidase S59   PHD-type   Post-SET   PWWP   SET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52948-F1-model_v2 AlphaFold P52948 1-1817 view protein structure

Promoters
RGD ID:6789266
Promoter ID:HG_KWN:12070
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000359171,   ENST00000396993,   ENST00000397004,   ENST00000397007,   ENST00000397013,   ENST00000397018,   NR_027017,   OTTHUMT00000033992,   OTTHUMT00000033993,   OTTHUMT00000033994,   OTTHUMT00000033995,   OTTHUMT00000033996,   OTTHUMT00000033997,   OTTHUMT00000033998,   OTTHUMT00000034001,   OTTHUMT00000034009,   UC001LYH.1,   UC001LYI.1,   UC001LYL.1,   UC001LYM.2,   UC001LYN.2,   UC001LYO.2,   UC001LYP.2,   UC001LYQ.2,   UC009YEC.1,   UC009YED.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36113,774,346 - 3,775,847 (-)MPROMDB
RGD ID:7219401
Promoter ID:EPDNEW_H15446
Type:multiple initiation site
Name:NUP98_2
Description:nucleoporin 98
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15447  EPDNEW_H15448  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,783,942 - 3,784,002EPDNEW
RGD ID:7219403
Promoter ID:EPDNEW_H15447
Type:initiation region
Name:NUP98_1
Description:nucleoporin 98
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15446  EPDNEW_H15448  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,797,554 - 3,797,614EPDNEW
RGD ID:7219407
Promoter ID:EPDNEW_H15448
Type:initiation region
Name:NUP98_3
Description:nucleoporin 98
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15446  EPDNEW_H15447  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,797,765 - 3,797,825EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8068 AgrOrtholog
COSMIC NUP98 COSMIC
Ensembl Genes ENSG00000110713 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000324932 ENTREZGENE
  ENST00000324932.12 UniProtKB/Swiss-Prot
  ENST00000355260 ENTREZGENE
  ENST00000355260.8 UniProtKB/Swiss-Prot
  ENST00000359171 ENTREZGENE
  ENST00000359171.8 UniProtKB/Swiss-Prot
  ENST00000397004 ENTREZGENE
  ENST00000397004.9 UniProtKB/Swiss-Prot
  ENST00000397007 ENTREZGENE
  ENST00000397007.10 UniProtKB/Swiss-Prot
  ENST00000397013.2 UniProtKB/TrEMBL
  ENST00000429801.5 UniProtKB/TrEMBL
  ENST00000524563.1 UniProtKB/TrEMBL
  ENST00000527104 ENTREZGENE
  ENST00000527104.6 UniProtKB/TrEMBL
  ENST00000529063 ENTREZGENE
  ENST00000529063.2 UniProtKB/TrEMBL
  ENST00000529379 ENTREZGENE
  ENST00000529379.2 UniProtKB/TrEMBL
  ENST00000532475.1 UniProtKB/TrEMBL
  ENST00000533346.5 UniProtKB/TrEMBL
  ENST00000650171.1 UniProtKB/TrEMBL
  ENST00000700595.1 UniProtKB/TrEMBL
  ENST00000700597.1 UniProtKB/TrEMBL
  ENST00000700598 ENTREZGENE
  ENST00000700598.1 UniProtKB/TrEMBL
  ENST00000700600.1 UniProtKB/TrEMBL
  ENST00000700601 ENTREZGENE
  ENST00000700601.1 UniProtKB/TrEMBL
  ENST00000700602 ENTREZGENE
  ENST00000700602.1 UniProtKB/TrEMBL
  ENST00000700603.1 UniProtKB/TrEMBL
  ENST00000700605.1 UniProtKB/TrEMBL
  ENST00000700606.1 UniProtKB/Swiss-Prot
  ENST00000700607.1 UniProtKB/TrEMBL
  ENST00000700608.1 UniProtKB/TrEMBL
  ENST00000700609.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.2360 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.170.270.10 UniProtKB/TrEMBL
  2.30.30.140 UniProtKB/TrEMBL
  3.30.1610.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/TrEMBL
GTEx ENSG00000110713 GTEx
HGNC ID HGNC:8068 ENTREZGENE
Human Proteome Map NUP98 Human Proteome Map
InterPro AWS_dom UniProtKB/TrEMBL
  C5HCH UniProtKB/TrEMBL
  NSD_PHD UniProtKB/TrEMBL
  Nucleoporin_FG_rpt UniProtKB/TrEMBL
  Nucleoporin_S59-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nup96 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S59 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S59_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD1_NSD1_2 UniProtKB/TrEMBL
  PHD2_NSD1 UniProtKB/TrEMBL
  PHD3_NSD1 UniProtKB/TrEMBL
  PHD4_NSD1 UniProtKB/TrEMBL
  PHD5_NSD1 UniProtKB/TrEMBL
  PHDvar_NSD UniProtKB/TrEMBL
  Post-SET_dom UniProtKB/TrEMBL
  PWWP_dom UniProtKB/TrEMBL
  PWWP_NSD1_rpt2 UniProtKB/TrEMBL
  SET2_Histone-Lys_MeTrsfase UniProtKB/TrEMBL
  SET_dom UniProtKB/TrEMBL
  SET_dom_sf UniProtKB/TrEMBL
  SET_NSD1 UniProtKB/TrEMBL
  Zinc_finger_PHD-type_CS UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/TrEMBL
  Znf_PHD UniProtKB/TrEMBL
  Znf_PHD-finger UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/TrEMBL
KEGG Report hsa:4928 UniProtKB/Swiss-Prot
NCBI Gene 4928 ENTREZGENE
OMIM 601021 OMIM
PANTHER NUCLEAR PORE COMPLEX PROTEIN NUP98-NUP96 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23198 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET DOMAIN PROTEINS UniProtKB/TrEMBL
Pfam AWS UniProtKB/TrEMBL
  C5HCH UniProtKB/TrEMBL
  NSD_PHD UniProtKB/TrEMBL
  Nucleoporin2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleoporin_FG UniProtKB/TrEMBL
  Nup96 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nup98_GLEBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD UniProtKB/TrEMBL
  PHD-1st_NSD UniProtKB/TrEMBL
  PHDvar_NSD UniProtKB/TrEMBL
  PWWP UniProtKB/TrEMBL
  SET UniProtKB/TrEMBL
PharmGKB NUP98 RGD, PharmGKB
PROSITE AWS UniProtKB/TrEMBL
  NUP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POST_SET UniProtKB/TrEMBL
  PWWP UniProtKB/TrEMBL
  SET UniProtKB/TrEMBL
  ZF_PHD_1 UniProtKB/TrEMBL
  ZF_PHD_2 UniProtKB/TrEMBL
SMART AWS UniProtKB/TrEMBL
  PHD UniProtKB/TrEMBL
  PostSET UniProtKB/TrEMBL
  PWWP UniProtKB/TrEMBL
  SET UniProtKB/TrEMBL
Superfamily-SCOP SSF57903 UniProtKB/TrEMBL
  SSF82199 UniProtKB/TrEMBL
  SSF82215 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor/PWWP/MBT UniProtKB/TrEMBL
UniProt A0A1D8GZ55_HUMAN UniProtKB/TrEMBL
  A0A1D8GZ56_HUMAN UniProtKB/TrEMBL
  A0A1D8GZ64_HUMAN UniProtKB/TrEMBL
  A0A3B3ITD8_HUMAN UniProtKB/TrEMBL
  A0A8V8TPW9_HUMAN UniProtKB/TrEMBL
  A0A8V8TPX4_HUMAN UniProtKB/TrEMBL
  A0A8V8TPX8_HUMAN UniProtKB/TrEMBL
  A0A8V8TQF7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TQG1_HUMAN UniProtKB/TrEMBL
  A0A8V8TQG5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TR21 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TR23_HUMAN UniProtKB/TrEMBL
  A0A8V8TRC7_HUMAN UniProtKB/TrEMBL
  A0A8V8TRD0_HUMAN UniProtKB/TrEMBL
  A8KA17 ENTREZGENE, UniProtKB/TrEMBL
  E9PNN0_HUMAN UniProtKB/TrEMBL
  H0YCR0 ENTREZGENE, UniProtKB/TrEMBL
  H0YCT1_HUMAN UniProtKB/TrEMBL
  H0YDA1_HUMAN UniProtKB/TrEMBL
  H0YDF4_HUMAN UniProtKB/TrEMBL
  H0YEN4 ENTREZGENE, UniProtKB/TrEMBL
  H7BYP8_HUMAN UniProtKB/TrEMBL
  H7C3P6_HUMAN UniProtKB/TrEMBL
  NUP98_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8IUT2 ENTREZGENE
  Q8WYB0 ENTREZGENE
  Q96E54 ENTREZGENE
  Q9H3Q4 ENTREZGENE
  Q9HDC8_HUMAN UniProtKB/TrEMBL
  Q9NT02 ENTREZGENE
  Q9UF57 ENTREZGENE
  Q9UHX0 ENTREZGENE
  Q9Y6J4 ENTREZGENE
  Q9Y6J5 ENTREZGENE
UniProt Secondary Q8IUT2 UniProtKB/Swiss-Prot
  Q8WYB0 UniProtKB/Swiss-Prot
  Q96E54 UniProtKB/Swiss-Prot
  Q9H3Q4 UniProtKB/Swiss-Prot
  Q9NT02 UniProtKB/Swiss-Prot
  Q9UF57 UniProtKB/Swiss-Prot
  Q9UHX0 UniProtKB/Swiss-Prot
  Q9Y6J4 UniProtKB/Swiss-Prot
  Q9Y6J5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-10 NUP98  nucleoporin 98 and 96 precursor  NUP98  nucleoporin 98  Symbol and/or name change 5135510 APPROVED
2016-06-07 NUP98  nucleoporin 98  NUP98  nucleoporin 98kDa  Symbol and/or name change 5135510 APPROVED