C12orf60 (chromosome 12 open reading frame 60) - Rat Genome Database

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Gene: C12orf60 (chromosome 12 open reading frame 60) Homo sapiens
Analyze
Symbol: C12orf60
Name: chromosome 12 open reading frame 60
RGD ID: 1606152
HGNC Page HGNC:28726
Description: ASSOCIATED WITH autosomal dominant intellectual developmental disorder 6; congenital diarrhea 6; Meconium Ileus; INTERACTS WITH 2-palmitoylglycerol; acrylamide; aflatoxin B1
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ31651; hypothetical protein LOC144608; LOC124906980; MGC47869; uncharacterized LOC124906980; uncharacterized protein C12orf60
RGD Orthologs
Mouse
Rat
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
GRCh381214,803,670 - 14,824,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1214,803,666 - 14,906,586 (+)EnsemblGRCh38hg38GRCh38
GRCh371214,956,604 - 14,977,349 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361214,847,773 - 14,868,059 (+)NCBINCBI36Build 36hg18NCBI36
Celera1220,101,493 - 20,121,778 (+)NCBICelera
Cytogenetic Map12p12.3NCBI
HuRef1214,725,963 - 14,746,251 (+)NCBIHuRef
CHM1_11214,922,599 - 14,942,885 (+)NCBICHM1_1
T2T-CHM13v2.01214,680,940 - 14,701,780 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Meconium ileus  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:23449627   PMID:32296183  


Genomics

Comparative Map Data
C12orf60
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381214,803,670 - 14,824,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1214,803,666 - 14,906,586 (+)EnsemblGRCh38hg38GRCh38
GRCh371214,956,604 - 14,977,349 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361214,847,773 - 14,868,059 (+)NCBINCBI36Build 36hg18NCBI36
Celera1220,101,493 - 20,121,778 (+)NCBICelera
Cytogenetic Map12p12.3NCBI
HuRef1214,725,963 - 14,746,251 (+)NCBIHuRef
CHM1_11214,922,599 - 14,942,885 (+)NCBICHM1_1
T2T-CHM13v2.01214,680,940 - 14,701,780 (+)NCBIT2T-CHM13v2.0
BC049715
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396136,805,158 - 136,818,918 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6136,804,624 - 136,817,660 (+)EnsemblGRCm39 Ensembl
GRCm386136,828,160 - 136,841,920 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6136,827,626 - 136,840,662 (+)EnsemblGRCm38mm10GRCm38
MGSCv376136,777,364 - 136,789,075 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366136,792,637 - 136,804,858 (+)NCBIMGSCv36mm8
Celera6139,838,338 - 139,873,089 (+)NCBICelera
Cytogenetic Map6G1NCBI
cM Map666.72NCBI
C4h12orf60
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84171,450,603 - 171,462,735 (+)NCBIGRCr8
mRatBN7.24169,716,821 - 169,731,532 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4169,716,030 - 169,734,237 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4176,014,134 - 176,026,233 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04171,795,867 - 171,807,999 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04170,419,797 - 170,431,896 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04170,807,633 - 170,822,514 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4170,820,594 - 170,821,995 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04235,067,929 - 235,079,384 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44173,862,352 - 173,874,481 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4158,302,929 - 158,315,061 (+)NCBICelera
Cytogenetic Map4q43NCBI
C10H12orf60
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21020,274,332 - 20,275,298 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11220,270,604 - 20,271,990 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01214,828,266 - 14,830,706 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11215,225,226 - 15,227,584 (+)NCBIpanpan1.1PanPan1.1panPan2
C27H12orf60
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12731,774,850 - 31,805,601 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2731,792,007 - 31,792,875 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2714,643,151 - 14,657,088 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02732,098,407 - 32,112,354 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2732,097,434 - 32,103,970 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12731,970,874 - 32,002,078 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02731,946,479 - 31,960,407 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02714,375,054 - 14,406,334 (+)NCBIUU_Cfam_GSD_1.0
CUNH12orf60
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494592,923,566 - 92,945,348 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365872,650,860 - 2,651,996 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C5H12orf60
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl557,734,665 - 57,735,396 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1557,734,455 - 57,735,612 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2561,123,758 - 61,139,304 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH12orf60
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11114,704,531 - 14,724,074 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1114,723,155 - 14,723,889 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606920,586,179 - 20,587,408 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH12orf60
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475223,198,069 - 23,198,797 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C12orf60
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1 copy number loss See cases [RCV000052780] Chr12:12388842..15540422 [GRCh38]
Chr12:12541776..15693356 [GRCh37]
Chr12:12433043..15584623 [NCBI36]
Chr12:12p13.2-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_001013698.2(SMCO3):c.182C>T (p.Thr61Ile) single nucleotide variant Malignant melanoma [RCV000069914] Chr12:14806499 [GRCh38]
Chr12:14959433 [GRCh37]
Chr12:14850700 [NCBI36]
Chr12:12p12.3		 not provided
NM_004963.4(GUCY2C):c.2270dup (p.Asn757fs) duplication Meconium ileus [RCV000024309] Chr12:14625894..14625895 [GRCh38]
Chr12:14778828..14778829 [GRCh37]
Chr12:12p12.3		 pathogenic
NM_004963.4(GUCY2C):c.2519G>T (p.Ser840Ile) single nucleotide variant Congenital diarrhea 6 [RCV000023094] Chr12:14622087 [GRCh38]
Chr12:14775021 [GRCh37]
Chr12:12p12.3		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1 copy number loss See cases [RCV000135331] Chr12:12363649..15280588 [GRCh38]
Chr12:12514722..15433522 [GRCh37]
Chr12:12405989..15324789 [NCBI36]
Chr12:12p13.2-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1 copy number loss See cases [RCV000142882] Chr12:11121039..15908154 [GRCh38]
Chr12:11273638..16061088 [GRCh37]
Chr12:11164905..15952355 [NCBI36]
Chr12:12p13.2-12.3		 likely pathogenic
NM_016312.2(WBP11):c.1177C>T (p.Pro393Ser) single nucleotide variant Malignant melanoma [RCV000069913] Chr12:14790588 [GRCh38]
Chr12:14943522 [GRCh37]
Chr12:14834789 [NCBI36]
Chr12:12p12.3		 not provided
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
chr12:10074776-18800953 complex variant complex Breast ductal adenocarcinoma [RCV000207105] Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3		 uncertain significance
NM_004963.4(GUCY2C):c.2782T>C (p.Cys928Arg) single nucleotide variant Meconium ileus [RCV000148340] Chr12:14619304 [GRCh38]
Chr12:14772238 [GRCh37]
Chr12:12p12.3		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
NM_004963.4(GUCY2C):c.2086G>T (p.Glu696Ter) single nucleotide variant not provided [RCV000437379] Chr12:14639933 [GRCh38]
Chr12:14792867 [GRCh37]
Chr12:12p12.3		 pathogenic|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
NM_001013698.2(SMCO3):c.529C>T (p.Arg177Cys) single nucleotide variant not specified [RCV004291937] Chr12:14806152 [GRCh38]
Chr12:14959086 [GRCh37]
Chr12:12p12.3		 uncertain significance
GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1 copy number loss not provided [RCV001006482] Chr12:11737824..16780886 [GRCh37]
Chr12:12p13.2-12.3		 pathogenic
NM_016312.3(WBP11):c.484C>T (p.Gln162Ter) single nucleotide variant WBP11 spliceosomopathy [RCV001199831] Chr12:14795008 [GRCh38]
Chr12:14947942 [GRCh37]
Chr12:12p12.3		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001013698.2(SMCO3):c.243G>C (p.Gln81His) single nucleotide variant not specified [RCV004304806] Chr12:14806438 [GRCh38]
Chr12:14959372 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_016312.3(WBP11):c.612del (p.Gly205fs) deletion Vertebral, cardiac, tracheoesophageal, renal, and limb defects [RCV001312231]|WBP11 spliceosomopathy [RCV001199834] Chr12:14794646 [GRCh38]
Chr12:14947580 [GRCh37]
Chr12:12p12.3		 pathogenic|likely pathogenic
NM_016312.3(WBP11):c.169A>G (p.Met57Val) single nucleotide variant WBP11 spliceosomopathy [RCV001199835] Chr12:14799656 [GRCh38]
Chr12:14952590 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_004963.4(GUCY2C):c.2324T>C (p.Leu775Pro) single nucleotide variant Congenital diarrhea 6 [RCV001197421] Chr12:14625841 [GRCh38]
Chr12:14778775 [GRCh37]
Chr12:12p12.3		 pathogenic
NM_004963.4(GUCY2C):c.1544T>C (p.Leu515Pro) single nucleotide variant Congenital diarrhea 6 [RCV001255882] Chr12:14652020 [GRCh38]
Chr12:14804954 [GRCh37]
Chr12:12p12.3		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_004963.4(GUCY2C):c.1149dup (p.Thr384fs) duplication not provided [RCV001783408] Chr12:14672893..14672894 [GRCh38]
Chr12:14825827..14825828 [GRCh37]
Chr12:12p12.3		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
NC_000012.11:g.(?_11803062)_(15835885_?)dup duplication Intellectual disability, autosomal dominant 6 [RCV001931714]|not provided [RCV001946435] Chr12:11803062..15835885 [GRCh37]
Chr12:12p13.2-12.3		 uncertain significance|no classifications from unflagged records
NC_000012.11:g.(?_14849146)_(15669910_?)dup duplication not provided [RCV001978819] Chr12:14849146..15669910 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_016312.3(WBP11):c.1505C>T (p.Pro502Leu) single nucleotide variant not provided [RCV002293845] Chr12:14787486 [GRCh38]
Chr12:14940420 [GRCh37]
Chr12:12p12.3		 uncertain significance
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 copy number loss not provided [RCV002292878] Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1		 pathogenic
NM_175874.4(C12orf60):c.607C>A (p.Pro203Thr) single nucleotide variant not specified [RCV004076153] Chr12:14823542 [GRCh38]
Chr12:14976476 [GRCh37]
Chr12:12p12.3		 likely benign
NM_001013698.2(SMCO3):c.505G>C (p.Gly169Arg) single nucleotide variant not specified [RCV004175791] Chr12:14806176 [GRCh38]
Chr12:14959110 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.422C>A (p.Thr141Lys) single nucleotide variant not specified [RCV004159334] Chr12:14806259 [GRCh38]
Chr12:14959193 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.591G>T (p.Lys197Asn) single nucleotide variant not specified [RCV004138443] Chr12:14806090 [GRCh38]
Chr12:14959024 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.100G>A (p.Asp34Asn) single nucleotide variant not specified [RCV004073513] Chr12:14806581 [GRCh38]
Chr12:14959515 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.206T>C (p.Ile69Thr) single nucleotide variant not specified [RCV004213415] Chr12:14806475 [GRCh38]
Chr12:14959409 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.62T>C (p.Leu21Pro) single nucleotide variant not specified [RCV004164962] Chr12:14806619 [GRCh38]
Chr12:14959553 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.335T>A (p.Ile112Lys) single nucleotide variant not specified [RCV004094253] Chr12:14806346 [GRCh38]
Chr12:14959280 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_175874.4(C12orf60):c.575A>G (p.Gln192Arg) single nucleotide variant not specified [RCV004102151] Chr12:14823510 [GRCh38]
Chr12:14976444 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.351T>G (p.Ile117Met) single nucleotide variant not specified [RCV004090785] Chr12:14806330 [GRCh38]
Chr12:14959264 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_016312.3(WBP11):c.386A>G (p.Lys129Arg) single nucleotide variant not provided [RCV003223958] Chr12:14796808 [GRCh38]
Chr12:14949742 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_016312.3(WBP11):c.99C>G (p.Asn33Lys) single nucleotide variant not provided [RCV003225420] Chr12:14799726 [GRCh38]
Chr12:14952660 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_016312.3(WBP11):c.1237_1251del (p.Leu413_Pro417del) deletion not provided [RCV003323256] Chr12:14790514..14790528 [GRCh38]
Chr12:14943448..14943462 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_016312.3(WBP11):c.972G>A (p.Met324Ile) single nucleotide variant not provided [RCV003319091] Chr12:14791212 [GRCh38]
Chr12:14944146 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_016312.3(WBP11):c.280C>G (p.Arg94Gly) single nucleotide variant not provided [RCV003318865] Chr12:14796914 [GRCh38]
Chr12:14949848 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_016312.3(WBP11):c.1298G>T (p.Gly433Val) single nucleotide variant not provided [RCV003319762] Chr12:14790467 [GRCh38]
Chr12:14943401 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.10A>G (p.Ser4Gly) single nucleotide variant not specified [RCV004355806] Chr12:14806671 [GRCh38]
Chr12:14959605 [GRCh37]
Chr12:12p12.3		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001013698.2(SMCO3):c.370G>A (p.Ala124Thr) single nucleotide variant not specified [RCV004459839] Chr12:14806311 [GRCh38]
Chr12:14959245 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.533C>T (p.Ala178Val) single nucleotide variant not specified [RCV004459841] Chr12:14806148 [GRCh38]
Chr12:14959082 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.563T>C (p.Leu188Pro) single nucleotide variant not specified [RCV004459842] Chr12:14806118 [GRCh38]
Chr12:14959052 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.655A>G (p.Thr219Ala) single nucleotide variant not specified [RCV004459844] Chr12:14806026 [GRCh38]
Chr12:14958960 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.658G>C (p.Val220Leu) single nucleotide variant not specified [RCV004459845] Chr12:14806023 [GRCh38]
Chr12:14958957 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.25C>T (p.Pro9Ser) single nucleotide variant not specified [RCV004459838] Chr12:14806656 [GRCh38]
Chr12:14959590 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.383C>G (p.Ala128Gly) single nucleotide variant not specified [RCV004459840] Chr12:14806298 [GRCh38]
Chr12:14959232 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.608A>G (p.Lys203Arg) single nucleotide variant not specified [RCV004459843] Chr12:14806073 [GRCh38]
Chr12:14959007 [GRCh37]
Chr12:12p12.3		 uncertain significance
NM_001013698.2(SMCO3):c.608A>C (p.Lys203Thr) single nucleotide variant not specified [RCV004667820] Chr12:14806073 [GRCh38]
Chr12:14959007 [GRCh37]
Chr12:12p12.3		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:607
Count of miRNA genes:451
Interacting mature miRNAs:480
Transcripts:ENST00000330828, ENST00000527783, ENST00000533472, ENST00000543822
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
RH102736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,976,513 - 14,976,702UniSTSGRCh37
Build 361214,867,780 - 14,867,969RGDNCBI36
Celera1220,121,499 - 20,121,688RGD
Cytogenetic Map12p12.3UniSTS
HuRef1214,745,972 - 14,746,161UniSTS
GeneMap99-GB4 RH Map1269.91UniSTS
G41310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,972,559 - 14,972,849UniSTSGRCh37
Build 361214,863,826 - 14,864,116RGDNCBI36
Celera1220,117,547 - 20,117,837RGD
Cytogenetic Map12p12.3UniSTS
HuRef1214,742,020 - 14,742,310UniSTS
MARC_10307-10308:998934573:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,959,203 - 14,959,589UniSTSGRCh37
Build 361214,850,470 - 14,850,856RGDNCBI36
Celera1220,104,191 - 20,104,577RGD
HuRef1214,728,661 - 14,729,047UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2431 2787 2248 4969 1725 2348 5 622 1935 465 2267 7277 6449 53 3733 851 1742 1613 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_175874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA986096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000330828   ⟹   ENSP00000331691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,803,670 - 14,824,415 (+)Ensembl
Ensembl Acc Id: ENST00000527783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,803,677 - 14,906,586 (+)Ensembl
Ensembl Acc Id: ENST00000533472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,803,666 - 14,904,610 (+)Ensembl
Ensembl Acc Id: ENST00000543822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,885,716 - 14,904,661 (+)Ensembl
Ensembl Acc Id: ENST00000648334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,803,669 - 14,905,257 (+)Ensembl
RefSeq Acc Id: NM_175874   ⟹   NP_787070
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,803,670 - 14,824,415 (+)NCBI
GRCh371214,955,997 - 14,976,792 (+)NCBI
Build 361214,847,773 - 14,868,059 (+)NCBI Archive
Celera1220,101,493 - 20,121,778 (+)RGD
HuRef1214,725,963 - 14,746,251 (+)RGD
CHM1_11214,922,599 - 14,942,885 (+)NCBI
T2T-CHM13v2.01214,681,035 - 14,701,780 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253322   ⟹   XP_005253379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,804,276 - 14,824,415 (+)NCBI
GRCh371214,955,997 - 14,976,792 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520568   ⟹   XP_011518870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,810,496 - 14,824,415 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520569   ⟹   XP_011518871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,804,276 - 14,824,415 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018873   ⟹   XP_016874362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,803,670 - 14,824,415 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018874   ⟹   XP_016874363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,803,670 - 14,824,415 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054371202   ⟹   XP_054227177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01214,681,245 - 14,701,780 (+)NCBI
RefSeq Acc Id: XM_054371203   ⟹   XP_054227178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01214,680,940 - 14,701,780 (+)NCBI
RefSeq Acc Id: XM_054371204   ⟹   XP_054227179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01214,687,861 - 14,701,780 (+)NCBI
RefSeq Acc Id: XM_054371205   ⟹   XP_054227180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01214,680,940 - 14,701,780 (+)NCBI
RefSeq Acc Id: XM_054371206   ⟹   XP_054227181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01214,687,773 - 14,701,780 (+)NCBI
RefSeq Acc Id: NP_787070   ⟸   NM_175874
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005253379   ⟸   XM_005253322
- Peptide Label: isoform X1
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518871   ⟸   XM_011520569
- Peptide Label: isoform X1
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518870   ⟸   XM_011520568
- Peptide Label: isoform X1
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874362   ⟸   XM_017018873
- Peptide Label: isoform X1
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874363   ⟸   XM_017018874
- Peptide Label: isoform X1
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000331691   ⟸   ENST00000330828
RefSeq Acc Id: XP_054227180   ⟸   XM_054371205
- Peptide Label: isoform X1
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227178   ⟸   XM_054371203
- Peptide Label: isoform X1
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227177   ⟸   XM_054371202
- Peptide Label: isoform X1
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227181   ⟸   XM_054371206
- Peptide Label: isoform X1
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227179   ⟸   XM_054371204
- Peptide Label: isoform X1
- UniProtKB: Q5XKK8 (UniProtKB/Swiss-Prot),   Q5U649 (UniProtKB/Swiss-Prot),   A8K1M7 (UniProtKB/Swiss-Prot),   Q8IXY2 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5U649-F1-model_v2 AlphaFold Q5U649 1-245 view protein structure

Promoters
RGD ID:7223291
Promoter ID:EPDNEW_H17391
Type:initiation region
Name:C12orf60_3
Description:chromosome 12 open reading frame 60
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17393  EPDNEW_H17395  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,803,148 - 14,803,208EPDNEW
RGD ID:7223295
Promoter ID:EPDNEW_H17393
Type:initiation region
Name:C12orf60_1
Description:chromosome 12 open reading frame 60
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17391  EPDNEW_H17395  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,803,670 - 14,803,730EPDNEW
RGD ID:7223297
Promoter ID:EPDNEW_H17395
Type:single initiation site
Name:C12orf60_2
Description:chromosome 12 open reading frame 60
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17391  EPDNEW_H17393  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,822,836 - 14,822,896EPDNEW
RGD ID:6790660
Promoter ID:HG_KWN:15110
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:NM_016312,   NM_175874
Position:
Human AssemblyChrPosition (strand)Source
Build 361214,847,564 - 14,848,064 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28726 AgrOrtholog
COSMIC C12orf60 COSMIC
Ensembl Genes ENSG00000182993 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000330828 ENTREZGENE
  ENST00000330828.3 UniProtKB/Swiss-Prot
GTEx ENSG00000182993 GTEx
HGNC ID HGNC:28726 ENTREZGENE
Human Proteome Map C12orf60 Human Proteome Map
InterPro DUF4533 UniProtKB/Swiss-Prot
KEGG Report hsa:144608 UniProtKB/Swiss-Prot
NCBI Gene 144608 ENTREZGENE
PANTHER CHROMOSOME 12 OPEN READING FRAME 60 UniProtKB/Swiss-Prot
  CHROMOSOME 12 OPEN READING FRAME 60 UniProtKB/Swiss-Prot
Pfam DUF4533 UniProtKB/Swiss-Prot
PharmGKB PA143485389 PharmGKB
UniProt A8K1M7 ENTREZGENE
  CL060_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5XKK8 ENTREZGENE
  Q8IXY2 ENTREZGENE
UniProt Secondary A8K1M7 UniProtKB/Swiss-Prot
  Q5XKK8 UniProtKB/Swiss-Prot
  Q8IXY2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-03-23 C12orf60  chromosome 12 open reading frame 60  LOC124906980  uncharacterized LOC124906980  Data merged from RGD:151675212 737654 PROVISIONAL