PSCA (prostate stem cell antigen) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PSCA (prostate stem cell antigen) Homo sapiens
Analyze
Symbol: PSCA
Name: prostate stem cell antigen
RGD ID: 1321185
HGNC Page HGNC
Description: Exhibits acetylcholine receptor binding activity. Involved in negative regulation of ERK1 and ERK2 cascade and regulation of neurotransmitter receptor activity. Localizes to plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PRO232
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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 Ensembl8142,670,308 - 142,682,725 (+)EnsemblGRCh38hg38GRCh38
GRCh388142,670,297 - 142,682,725 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,751,715 - 143,764,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,758,877 - 143,761,145 (+)NCBINCBI36hg18NCBI36
Build 348143,758,914 - 143,761,107NCBI
Celera8140,062,953 - 140,075,307 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,004,448 - 139,016,803 (+)NCBIHuRef
CHM1_18143,791,995 - 143,804,414 (+)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

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9465086   PMID:10713670   PMID:10973799   PMID:11406532   PMID:11752398   PMID:11980648   PMID:12351697   PMID:12477932   PMID:12496358   PMID:12975309   PMID:14702039   PMID:15340161  
PMID:15489334   PMID:15765097   PMID:15814638   PMID:16015594   PMID:16024997   PMID:16341674   PMID:16957968   PMID:17207965   PMID:17255364   PMID:17492652   PMID:17503471   PMID:17549363  
PMID:17853904   PMID:18076024   PMID:18184265   PMID:18440837   PMID:18488030   PMID:18838214   PMID:19180924   PMID:19343734   PMID:19462463   PMID:19554573   PMID:19582881   PMID:19648920  
PMID:19822092   PMID:19861285   PMID:20039280   PMID:20043108   PMID:20082273   PMID:20083643   PMID:20085909   PMID:20131315   PMID:20230293   PMID:20374648   PMID:20501618   PMID:20502058  
PMID:20507324   PMID:20955382   PMID:20972438   PMID:21064099   PMID:21070776   PMID:21070779   PMID:21268123   PMID:21429770   PMID:21497359   PMID:21503583   PMID:21538581   PMID:21600799  
PMID:21681742   PMID:21748756   PMID:21873635   PMID:21914346   PMID:21936014   PMID:22155405   PMID:22387998   PMID:22416122   PMID:22426141   PMID:22481254   PMID:22502712   PMID:22536409  
PMID:22778595   PMID:22796266   PMID:22824379   PMID:22938426   PMID:22938475   PMID:23376485   PMID:23391636   PMID:23533145   PMID:23704932   PMID:23984394   PMID:23988503   PMID:24023815  
PMID:24146278   PMID:24163127   PMID:24183365   PMID:24308679   PMID:24320701   PMID:24438073   PMID:24557062   PMID:24654646   PMID:25117309   PMID:25374226   PMID:25503145   PMID:25582162  
PMID:25658482   PMID:25680266   PMID:25698533   PMID:25721731   PMID:25727947   PMID:25964537   PMID:26006239   PMID:26147638   PMID:26308216   PMID:26320491   PMID:26477693   PMID:26527100  
PMID:26554163   PMID:26785734   PMID:26848528   PMID:26982980   PMID:27001215   PMID:27050280   PMID:27098205   PMID:27232854   PMID:28611215   PMID:28755148   PMID:28845520   PMID:28971496  
PMID:29332451   PMID:29855276   PMID:29892961   PMID:30097533   PMID:30189721   PMID:30191681   PMID:30753327   PMID:31213476   PMID:31416884   PMID:31983162   PMID:32296183   PMID:32640304  
PMID:32660489   PMID:32664326   PMID:33029516  


Genomics

Comparative Map Data
PSCA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,670,308 - 142,682,725 (+)EnsemblGRCh38hg38GRCh38
GRCh388142,670,297 - 142,682,725 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,751,715 - 143,764,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,758,877 - 143,761,145 (+)NCBINCBI36hg18NCBI36
Build 348143,758,914 - 143,761,107NCBI
Celera8140,062,953 - 140,075,307 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,004,448 - 139,016,803 (+)NCBIHuRef
CHM1_18143,791,995 - 143,804,414 (+)NCBICHM1_1
Psca
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391574,586,688 - 74,588,914 (+)NCBIGRCm39mm39
GRCm39 Ensembl1574,586,688 - 74,588,918 (+)Ensembl
GRCm381574,714,839 - 74,717,065 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1574,714,839 - 74,717,069 (+)EnsemblGRCm38mm10GRCm38
MGSCv371574,545,269 - 74,547,495 (+)NCBIGRCm37mm9NCBIm37
MGSCv361574,542,094 - 74,544,324 (+)NCBImm8
Celera1576,219,780 - 76,222,006 (+)NCBICelera
Cytogenetic Map15D3NCBI
Psca
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,598,203 - 106,603,114 (+)NCBI
Rnor_6.0 Ensembl7116,090,189 - 116,091,955 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,090,189 - 116,091,955 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07115,857,434 - 115,858,209 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.07115,995,492 - 115,997,258 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47112,823,862 - 112,835,190 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7103,002,175 - 103,003,865 (+)NCBICelera
Cytogenetic Map7q34NCBI
Psca
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554541,425,255 - 1,429,786 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554541,425,255 - 1,429,786 (+)NCBIChiLan1.0ChiLan1.0
PSCA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18142,435,849 - 142,438,401 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,435,849 - 142,438,401 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08139,384,002 - 139,394,993 (+)NCBIMhudiblu_PPA_v0panPan3
PSCA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11336,773,434 - 36,776,740 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1336,773,875 - 36,776,194 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,649,736 - 36,652,787 (+)NCBI
ROS_Cfam_1.01337,177,153 - 37,180,204 (+)NCBI
UMICH_Zoey_3.11336,895,880 - 36,898,931 (+)NCBI
UNSW_CanFamBas_1.01336,985,523 - 36,988,575 (+)NCBI
UU_Cfam_GSD_1.01337,407,594 - 37,410,646 (+)NCBI
Psca
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,716,908 - 1,719,360 (-)NCBI
SpeTri2.0NW_0049364709,143,003 - 9,145,438 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSCA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,479,878 - 1,482,354 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,479,872 - 1,484,245 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PSCA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18136,925,881 - 136,929,257 (+)NCBI
Psca
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,918,508 - 13,920,888 (-)NCBI

Position Markers
D8S1836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,750,503 - 143,750,653UniSTSGRCh37
Build 368143,747,505 - 143,747,655RGDNCBI36
Cytogenetic Map8q24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Marshfield Genetic Map8165.93RGD
Marshfield Genetic Map8165.93UniSTS
Genethon Genetic Map8166.4UniSTS
TNG Radiation Hybrid Map871035.0UniSTS
deCODE Assembly Map8163.38UniSTS
GeneMap99-GB4 RH Map8552.63UniSTS
PSCA__6943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,763,391 - 143,764,140UniSTSGRCh37
Build 368143,760,393 - 143,761,142RGDNCBI36
Celera8140,074,553 - 140,075,302RGD
HuRef8139,016,049 - 139,016,798UniSTS
RH80181  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.2UniSTS
GeneMap99-GB4 RH Map8548.76UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1203
Count of miRNA genes:646
Interacting mature miRNAs:718
Transcripts:ENST00000301258, ENST00000505305, ENST00000510969, ENST00000513264
Prediction methods: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 visual system adipose tissue appendage entire extraembryonic component
High 203 1 1 2 1 20 19 7 1
Medium 226 7 9 55 2 4 481 36 10 51 393 118 58 5 299
Low 970 623 461 182 354 77 1947 493 1366 178 779 811 109 698 986 5
Below cutoff 961 1996 1067 278 1104 277 1651 1398 2248 138 253 580 4 1 493 1299

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF043498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI685668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ297436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI758811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM768967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU157227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB993163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS448246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB238365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB315133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000301258   ⟹   ENSP00000301258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,680,495 - 142,682,725 (+)Ensembl
RefSeq Acc Id: ENST00000505305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,670,308 - 142,681,916 (+)Ensembl
RefSeq Acc Id: ENST00000510969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,670,321 - 142,682,299 (+)Ensembl
RefSeq Acc Id: ENST00000513264   ⟹   ENSP00000426508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,680,457 - 142,681,770 (+)Ensembl
RefSeq Acc Id: NM_005672   ⟹   NP_005663
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,680,495 - 142,682,725 (+)NCBI
GRCh378143,751,726 - 143,764,145 (+)ENTREZGENE
Build 368143,758,877 - 143,761,145 (+)NCBI Archive
HuRef8139,004,448 - 139,016,803 (+)ENTREZGENE
CHM1_18143,802,143 - 143,804,414 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033343
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,670,297 - 142,682,725 (+)NCBI
GRCh378143,751,726 - 143,764,145 (+)ENTREZGENE
HuRef8139,004,448 - 139,016,803 (+)ENTREZGENE
CHM1_18143,791,995 - 143,804,414 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005663   ⟸   NM_005672
- Peptide Label: preproprotein
- UniProtKB: D3DWI6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000301258   ⟸   ENST00000301258
RefSeq Acc Id: ENSP00000426508   ⟸   ENST00000513264
Protein Domains
UPAR/Ly6

Promoters
RGD ID:7214287
Promoter ID:EPDNEW_H12887
Type:initiation region
Name:PSCA_3
Description:prostate stem cell antigen
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12888  EPDNEW_H12889  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,670,048 - 142,670,108EPDNEW
RGD ID:7214283
Promoter ID:EPDNEW_H12888
Type:initiation region
Name:PSCA_2
Description:prostate stem cell antigen
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12889  EPDNEW_H12887  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,670,297 - 142,670,357EPDNEW
RGD ID:7214285
Promoter ID:EPDNEW_H12889
Type:initiation region
Name:PSCA_1
Description:prostate stem cell antigen
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12888  EPDNEW_H12887  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,680,497 - 142,680,557EPDNEW
RGD ID:6806960
Promoter ID:HG_KWN:62230
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_005672
Position:
Human AssemblyChrPosition (strand)Source
Build 368143,759,051 - 143,759,551 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143762893-143867731)x3 copy number gain See cases [RCV000239918] Chr8:143762893..143867731 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005672.5(PSCA):c.-26C>T single nucleotide variant not provided [RCV000874560] Chr8:142680513 [GRCh38]
Chr8:143761931 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3 copy number gain not provided [RCV001006153] Chr8:143728492..144093928 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9500 AgrOrtholog
COSMIC PSCA COSMIC
Ensembl Genes ENSG00000167653 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000301258 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000426508 UniProtKB/TrEMBL
Ensembl Transcript ENST00000301258 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000513264 UniProtKB/TrEMBL
GTEx ENSG00000167653 GTEx
HGNC ID HGNC:9500 ENTREZGENE
Human Proteome Map PSCA Human Proteome Map
InterPro LY6_UPA_recep-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8000 ENTREZGENE
OMIM 602470 OMIM
Pfam UPAR_LY6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33847 PharmGKB
SMART SM00134 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DWI6 ENTREZGENE, UniProtKB/TrEMBL
  H0YAA6_HUMAN UniProtKB/TrEMBL
  O43653 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6UW92 UniProtKB/Swiss-Prot