TMEM63A (transmembrane protein 63A) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TMEM63A (transmembrane protein 63A) Homo sapiens
Analyze
Symbol: TMEM63A
Name: transmembrane protein 63A
RGD ID: 1605419
HGNC Page HGNC
Description: Exhibits mechanosensitive ion channel activity. Predicted to be involved in neutrophil degranulation. Localizes to centriolar satellite and lysosomal membrane. Implicated in hypomyelinating leukodystrophy; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CSC1-like protein 1; HLD19; KIAA0489; KIAA0792; RP4-559A3.1
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1225,845,536 - 225,882,380 (-)EnsemblGRCh38hg38GRCh38
GRCh381225,840,556 - 225,882,720 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371226,033,237 - 226,070,080 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361224,099,863 - 224,136,671 (-)NCBINCBI36hg18NCBI36
Celera1199,224,296 - 199,261,462 (-)NCBI
Cytogenetic Map1q42.12NCBI
HuRef1196,550,933 - 196,588,105 (-)NCBIHuRef
CHM1_11227,305,554 - 227,342,737 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:9455484   PMID:9872452   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16710414   PMID:17897319   PMID:18854154   PMID:19056867   PMID:19913121  
PMID:20628086   PMID:20957757   PMID:21873635   PMID:26186194   PMID:28298427   PMID:28514442   PMID:28611215   PMID:28870237   PMID:30382938   PMID:31587869  


Genomics

Comparative Map Data
TMEM63A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1225,845,536 - 225,882,380 (-)EnsemblGRCh38hg38GRCh38
GRCh381225,840,556 - 225,882,720 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371226,033,237 - 226,070,080 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361224,099,863 - 224,136,671 (-)NCBINCBI36hg18NCBI36
Celera1199,224,296 - 199,261,462 (-)NCBI
Cytogenetic Map1q42.12NCBI
HuRef1196,550,933 - 196,588,105 (-)NCBIHuRef
CHM1_11227,305,554 - 227,342,737 (-)NCBICHM1_1
Tmem63a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391180,766,992 - 180,802,671 (+)NCBIGRCm39mm39
GRCm39 Ensembl1180,769,909 - 180,802,677 (+)Ensembl
GRCm381180,942,286 - 180,975,106 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1180,942,344 - 180,975,112 (+)EnsemblGRCm38mm10GRCm38
MGSCv371182,872,649 - 182,905,235 (+)NCBIGRCm37mm9NCBIm37
MGSCv361182,779,193 - 182,811,779 (+)NCBImm8
Celera1188,007,992 - 188,040,911 (+)NCBICelera
Cytogenetic Map1H4NCBI
Tmem63a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21392,662,872 - 92,696,186 (+)NCBI
Rnor_6.0 Ensembl1399,220,510 - 99,253,316 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01399,219,585 - 99,253,176 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.013104,217,467 - 104,250,973 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41396,671,527 - 96,704,177 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11396,860,142 - 96,893,106 (+)NCBI
Celera1392,206,402 - 92,238,798 (+)NCBICelera
Cytogenetic Map13q26NCBI
TMEM63A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11206,302,729 - 206,344,760 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1206,307,554 - 206,343,458 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01201,306,608 - 201,344,627 (-)NCBIMhudiblu_PPA_v0panPan3
TMEM63A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1738,936,989 - 38,964,349 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl738,937,041 - 38,964,345 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha738,421,464 - 38,446,556 (+)NCBI
ROS_Cfam_1.0738,770,941 - 38,798,318 (+)NCBI
UMICH_Zoey_3.1738,613,007 - 38,638,098 (+)NCBI
UNSW_CanFamBas_1.0738,621,158 - 38,646,233 (+)NCBI
UU_Cfam_GSD_1.0738,890,919 - 38,916,009 (+)NCBI
Tmem63a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934452,056,943 - 52,093,748 (+)NCBI
SpeTri2.0NW_0049365262,653,556 - 2,690,427 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM63A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1013,769,603 - 13,814,020 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11013,771,795 - 13,814,442 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21015,975,250 - 16,015,708 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM63A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1253,887,535 - 3,924,422 (+)NCBI
ChlSab1.1 Ensembl253,890,581 - 3,922,944 (+)Ensembl

Position Markers
D1S3504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,038,378 - 226,038,555UniSTSGRCh37
Build 361224,105,001 - 224,105,178RGDNCBI36
Celera1199,229,441 - 199,229,618RGD
Cytogenetic Map1q42.12UniSTS
HuRef1196,556,078 - 196,556,255UniSTS
GeneMap99-GB4 RH Map1720.39UniSTS
RH80101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,033,247 - 226,033,469UniSTSGRCh37
Build 361224,099,870 - 224,100,092RGDNCBI36
Celera1199,224,310 - 199,224,532RGD
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q42.12UniSTS
HuRef1196,550,947 - 196,551,169UniSTS
D1S1937E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,034,033 - 226,034,120UniSTSGRCh37
Build 361224,100,656 - 224,100,743RGDNCBI36
Celera1199,225,096 - 199,225,183RGD
Cytogenetic Map1q42.12UniSTS
HuRef1196,551,733 - 196,551,820UniSTS
STS-X07936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,033,043 - 226,033,236UniSTSGRCh37
Build 361224,099,666 - 224,099,859RGDNCBI36
Celera1199,224,106 - 199,224,299RGD
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q42.12UniSTS
HuRef1196,550,743 - 196,550,936UniSTS
GeneMap99-GB4 RH Map1718.55UniSTS
SHGC-76439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,033,080 - 226,033,230UniSTSGRCh37
Build 361224,099,703 - 224,099,853RGDNCBI36
Celera1199,224,143 - 199,224,293RGD
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q42.12UniSTS
HuRef1196,550,780 - 196,550,930UniSTS
TNG Radiation Hybrid Map1112460.0UniSTS
GeneMap99-GB4 RH Map1723.47UniSTS
Whitehead-RH Map1877.9UniSTS
NCBI RH Map12059.8UniSTS
STS-R42498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,033,126 - 226,033,236UniSTSGRCh37
Build 361224,099,749 - 224,099,859RGDNCBI36
Celera1199,224,189 - 199,224,299RGD
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q42.12UniSTS
HuRef1196,550,826 - 196,550,936UniSTS
GeneMap99-GB4 RH Map1718.55UniSTS
MARC_17431-17432:1022875841:6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,043,608 - 226,044,392UniSTSGRCh37
Build 361224,110,231 - 224,111,015RGDNCBI36
Celera1199,234,661 - 199,235,445RGD
HuRef643,839,331 - 43,839,658UniSTS
HuRef1196,561,308 - 196,562,092UniSTS
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3151
Count of miRNA genes:1027
Interacting mature miRNAs:1275
Transcripts:ENST00000366835, ENST00000436966, ENST00000474478, ENST00000482753, ENST00000483779, ENST00000487817, ENST00000487971, ENST00000496025, ENST00000537914
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2211 1908 1262 449 1359 299 3254 812 1856 294 1029 1435 161 1131 1873 3
Low 221 1076 461 173 582 165 1101 1381 1865 123 419 159 11 73 915 1
Below cutoff 6 8 1 3 12

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_014698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB018335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF512395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA127076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000366835   ⟹   ENSP00000355800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1225,845,536 - 225,882,380 (-)Ensembl
RefSeq Acc Id: ENST00000436966   ⟹   ENSP00000409002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1225,871,092 - 225,877,679 (-)Ensembl
RefSeq Acc Id: ENST00000474478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1225,859,663 - 225,866,211 (-)Ensembl
RefSeq Acc Id: ENST00000482753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1225,847,139 - 225,848,988 (-)Ensembl
RefSeq Acc Id: ENST00000483779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1225,862,540 - 225,866,410 (-)Ensembl
RefSeq Acc Id: ENST00000487817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1225,871,574 - 225,877,494 (-)Ensembl
RefSeq Acc Id: ENST00000487971
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1225,856,704 - 225,859,541 (-)Ensembl
RefSeq Acc Id: ENST00000496025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1225,846,576 - 225,847,465 (-)Ensembl
RefSeq Acc Id: ENST00000537914   ⟹   ENSP00000445237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1225,860,724 - 225,866,748 (-)Ensembl
RefSeq Acc Id: NM_014698   ⟹   NP_055513
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,845,536 - 225,882,380 (-)NCBI
GRCh371226,033,233 - 226,070,420 (-)RGD
GRCh371226,033,233 - 226,070,420 (-)NCBI
Build 361224,099,863 - 224,136,671 (-)NCBI Archive
Celera1199,224,296 - 199,261,462 (-)RGD
HuRef1196,550,933 - 196,588,105 (-)ENTREZGENE
CHM1_11227,305,554 - 227,342,737 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711841   ⟹   XP_006711904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,845,536 - 225,882,374 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544328   ⟹   XP_011542630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,845,536 - 225,879,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544329   ⟹   XP_011542631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,845,536 - 225,880,681 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544330   ⟹   XP_011542632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,845,536 - 225,882,720 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544331   ⟹   XP_011542633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,845,536 - 225,882,382 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544332   ⟹   XP_011542634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,845,536 - 225,882,380 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001737552
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,845,539 - 225,882,379 (-)NCBI
Sequence:
RefSeq Acc Id: XR_949163
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,840,556 - 225,882,382 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055513   ⟸   NM_014698
- UniProtKB: O94886 (UniProtKB/Swiss-Prot),   A0A024R3T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711904   ⟸   XM_006711841
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542632   ⟸   XM_011544330
- Peptide Label: isoform X1
- UniProtKB: O94886 (UniProtKB/Swiss-Prot),   A0A024R3T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542633   ⟸   XM_011544331
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011542634   ⟸   XM_011544332
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011542631   ⟸   XM_011544329
- Peptide Label: isoform X1
- UniProtKB: O94886 (UniProtKB/Swiss-Prot),   A0A024R3T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542630   ⟸   XM_011544328
- Peptide Label: isoform X1
- UniProtKB: O94886 (UniProtKB/Swiss-Prot),   A0A024R3T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000445237   ⟸   ENST00000537914
RefSeq Acc Id: ENSP00000355800   ⟸   ENST00000366835
RefSeq Acc Id: ENSP00000409002   ⟸   ENST00000436966
Protein Domains
PHM7_cyt   RSN1_7TM   RSN1_TM

Promoters
RGD ID:6809745
Promoter ID:HG_ACW:6052
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TMEM63A.SAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,096,856 - 224,097,356 (-)MPROMDB
RGD ID:6787025
Promoter ID:HG_KWN:7580
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000091243
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,102,246 - 224,102,787 (-)MPROMDB
RGD ID:6787024
Promoter ID:HG_KWN:7581
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000091244
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,102,826 - 224,103,326 (-)MPROMDB
RGD ID:6787026
Promoter ID:HG_KWN:7583
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:OTTHUMT00000091242,   OTTHUMT00000091246
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,120,204 - 224,120,704 (-)MPROMDB
RGD ID:6809746
Promoter ID:HG_ACW:6060
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:TMEM63A.LAPR07,   TMEM63A.QAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,134,216 - 224,134,716 (-)MPROMDB
RGD ID:6787020
Promoter ID:HG_KWN:7585
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014698
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,136,711 - 224,137,407 (-)MPROMDB
RGD ID:6859118
Promoter ID:EPDNEW_H2724
Type:initiation region
Name:TMEM63A_1
Description:transmembrane protein 63A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,882,369 - 225,882,429EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 copy number loss See cases [RCV000052311] Chr1:224096288..227859548 [GRCh38]
Chr1:224283990..228047249 [GRCh37]
Chr1:222350613..226113872 [NCBI36]
Chr1:1q42.11-42.13
pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q42.12(chr1:225751478-225894702)x3 copy number gain See cases [RCV000140150] Chr1:225751478..225894702 [GRCh38]
Chr1:225939180..226082402 [GRCh37]
Chr1:224005803..224149025 [NCBI36]
Chr1:1q42.12
uncertain significance
GRCh38/hg38 1q42.12(chr1:225730526-225894702)x1 copy number loss See cases [RCV000141313] Chr1:225730526..225894702 [GRCh38]
Chr1:225918228..226082402 [GRCh37]
Chr1:223984851..224149025 [NCBI36]
Chr1:1q42.12
uncertain significance
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000120.4(EPHX1):c.1299G>A (p.Ala433=) single nucleotide variant not provided [RCV000961354] Chr1:225845278 [GRCh38]
Chr1:226032979 [GRCh37]
Chr1:1q42.12
benign
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2
pathogenic
NM_000120.4(EPHX1):c.1239G>A (p.Val413=) single nucleotide variant not provided [RCV000950621] Chr1:225845218 [GRCh38]
Chr1:226032919 [GRCh37]
Chr1:1q42.12
benign
NM_014698.3(TMEM63A):c.528T>G (p.Tyr176Ter) single nucleotide variant not provided [RCV001038017] Chr1:225867150 [GRCh38]
Chr1:226054850 [GRCh37]
Chr1:1q42.12
uncertain significance
NM_000120.4(EPHX1):c.1223C>T (p.Thr408Met) single nucleotide variant not provided [RCV000923607] Chr1:225845202 [GRCh38]
Chr1:226032903 [GRCh37]
Chr1:1q42.12
benign
NM_000120.4(EPHX1):c.1314G>A (p.Pro438=) single nucleotide variant not provided [RCV000894531] Chr1:225845293 [GRCh38]
Chr1:226032994 [GRCh37]
Chr1:1q42.12
benign
NM_014698.3(TMEM63A):c.503G>A (p.Gly168Glu) single nucleotide variant LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE [RCV000884702]|Leukodystrophy [RCV000850174] Chr1:225867899 [GRCh38]
Chr1:226055599 [GRCh37]
Chr1:1q42.12
pathogenic
NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn) single nucleotide variant LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE [RCV000884700]|Leukodystrophy [RCV000850175] Chr1:225857010 [GRCh38]
Chr1:226044710 [GRCh37]
Chr1:1q42.12
pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
GRCh37/hg19 1q42.12(chr1:226028473-226226752)x3 copy number gain not provided [RCV000848242] Chr1:226028473..226226752 [GRCh37]
Chr1:1q42.12
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser) single nucleotide variant LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE [RCV000884698]|Leukodystrophy [RCV000850176] Chr1:225853727 [GRCh38]
Chr1:226041428 [GRCh37]
Chr1:1q42.12
pathogenic
GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3 copy number gain not provided [RCV001005183] Chr1:226064744..226924455 [GRCh37]
Chr1:1q42.12
uncertain significance
NM_000120.4(EPHX1):c.1216T>C (p.Leu406=) single nucleotide variant not provided [RCV000961353] Chr1:225845195 [GRCh38]
Chr1:226032896 [GRCh37]
Chr1:1q42.12
benign
NM_014698.3(TMEM63A):c.568A>C (p.Asn190His) single nucleotide variant not provided [RCV000955870] Chr1:225866681 [GRCh38]
Chr1:226054381 [GRCh37]
Chr1:1q42.12
benign
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 copy number loss not provided [RCV001005178] Chr1:222641389..228137574 [GRCh37]
Chr1:1q41-42.13
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29118 AgrOrtholog
COSMIC TMEM63A COSMIC
Ensembl Genes ENSG00000196187 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355800 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000409002 UniProtKB/TrEMBL
  ENSP00000445237 UniProtKB/TrEMBL
Ensembl Transcript ENST00000366835 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000436966 UniProtKB/TrEMBL
  ENST00000537914 UniProtKB/TrEMBL
GTEx ENSG00000196187 GTEx
HGNC ID HGNC:29118 ENTREZGENE
Human Proteome Map TMEM63A Human Proteome Map
InterPro Csc1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHM7_cyt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RSN1_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TMEM63A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9725 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9725 ENTREZGENE
OMIM 618685 OMIM
  618688 OMIM
PANTHER PTHR13018:SF24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PHM7_cyt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RSN1_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RSN1_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670776 PharmGKB
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R3T3 ENTREZGENE
  A1NY77_HUMAN UniProtKB/TrEMBL
  CSCL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2HIZ8_HUMAN UniProtKB/TrEMBL
  X6RI56_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q53GI7 UniProtKB/Swiss-Prot
  Q5TE96 UniProtKB/Swiss-Prot
  Q8N2U2 UniProtKB/Swiss-Prot