UPK1B (uroplakin 1B) - Rat Genome Database
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Gene: UPK1B (uroplakin 1B) Homo sapiens
Analyze
Symbol: UPK1B
Name: uroplakin 1B
RGD ID: 1317213
Description: Involved in epithelial cell differentiation. Localizes to extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: tetraspan; tetraspanin-20; tspan-20; TSPAN20; UP1b; UPIB; UPK1; uroplakin Ib; uroplakin-1b
Orthologs:
Mus musculus (house mouse) : Upk1b (uroplakin 1B)  MGI  Alliance
Rattus norvegicus (Norway rat) : Upk1b (uroplakin 1B)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Upk1b (uroplakin 1B)
Pan paniscus (bonobo/pygmy chimpanzee) : UPK1B (uroplakin 1B)
Canis lupus familiaris (dog) : UPK1B (uroplakin 1B)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Upk1b (uroplakin 1B)
Sus scrofa (pig) : UPK1B (uroplakin 1B)
Chlorocebus sabaeus (African green monkey) : UPK1B (uroplakin 1B)
Heterocephalus glaber (naked mole-rat) : Upk1b (uroplakin 1B)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3119,173,517 - 119,205,143 (+)EnsemblGRCh38hg38GRCh38
GRCh383119,173,598 - 119,205,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373118,892,425 - 118,924,000 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363120,375,115 - 120,406,690 (+)NCBINCBI36hg18NCBI36
Build 343120,375,114 - 120,406,690NCBI
Celera3117,300,917 - 117,332,493 (+)NCBI
Cytogenetic Map3q13.32NCBI
HuRef3116,267,873 - 116,299,468 (+)NCBIHuRef
CHM1_13118,855,896 - 118,887,435 (+)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

Additional References at PubMed
PMID:8125298   PMID:8530366   PMID:9073521   PMID:9818021   PMID:9846985   PMID:9935153   PMID:10514386   PMID:11739647   PMID:12031497   PMID:12446744   PMID:12475947   PMID:12477932  
PMID:15140401   PMID:15489334   PMID:16354592   PMID:17207965   PMID:18355812   PMID:19056867   PMID:21873635   PMID:23376485   PMID:24559587   PMID:24623722   PMID:25416956   PMID:30229818  
PMID:32296183  


Genomics

Comparative Map Data
UPK1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3119,173,517 - 119,205,143 (+)EnsemblGRCh38hg38GRCh38
GRCh383119,173,598 - 119,205,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373118,892,425 - 118,924,000 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363120,375,115 - 120,406,690 (+)NCBINCBI36hg18NCBI36
Build 343120,375,114 - 120,406,690NCBI
Celera3117,300,917 - 117,332,493 (+)NCBI
Cytogenetic Map3q13.32NCBI
HuRef3116,267,873 - 116,299,468 (+)NCBIHuRef
CHM1_13118,855,896 - 118,887,435 (+)NCBICHM1_1
Upk1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391638,593,544 - 38,620,565 (-)NCBI
GRCm381638,773,182 - 38,800,203 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1638,773,184 - 38,800,328 (-)EnsemblGRCm38mm10GRCm38
MGSCv371638,773,297 - 38,800,316 (-)NCBIGRCm37mm9NCBIm37
MGSCv361638,692,522 - 38,719,533 (-)NCBImm8
Celera1639,178,325 - 39,205,110 (-)NCBICelera
Cytogenetic Map16B4NCBI
Upk1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01164,522,008 - 64,553,234 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1164,522,130 - 64,553,228 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01167,555,643 - 67,586,618 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41163,729,052 - 63,767,358 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11163,786,622 - 63,828,574 (+)NCBI
Celera1161,459,524 - 61,493,878 (+)NCBICelera
Cytogenetic Map11q21NCBI
Upk1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542718,929,126 - 18,960,208 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542718,929,125 - 18,959,745 (+)NCBIChiLan1.0ChiLan1.0
UPK1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13123,204,183 - 123,235,097 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3123,204,183 - 123,235,095 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03116,291,573 - 116,323,014 (+)NCBIMhudiblu_PPA_v0panPan3
UPK1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3322,866,301 - 22,895,830 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13322,866,672 - 22,896,268 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Upk1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365366,178,159 - 6,208,273 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UPK1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13141,013,099 - 141,038,902 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113141,013,953 - 141,026,368 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213150,294,288 - 150,320,191 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UPK1B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl2261,635,092 - 61,669,553 (-)Ensembl
ChlSab1.12261,636,754 - 61,670,116 (-)NCBI
Upk1b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473128,975,929 - 29,005,577 (-)NCBI

Position Markers
RH120285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373118,913,463 - 118,913,791UniSTSGRCh37
Build 363120,396,153 - 120,396,481RGDNCBI36
Celera3117,321,956 - 117,322,284RGD
Cytogenetic Map3q13.32UniSTS
HuRef3116,288,928 - 116,289,256UniSTS
TNG Radiation Hybrid Map388063.0UniSTS
UPK1B__5030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373118,923,263 - 118,924,003UniSTSGRCh37
Build 363120,405,953 - 120,406,693RGDNCBI36
Celera3117,331,756 - 117,332,496RGD
HuRef3116,298,731 - 116,299,471UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1786
Count of miRNA genes:707
Interacting mature miRNAs:791
Transcripts:ENST00000264234, ENST00000460625, ENST00000479520, ENST00000494855, ENST00000497685
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 visual system adipose tissue appendage entire extraembryonic component
High 1 1 4 6 7
Medium 23 34 15 13 7 15 1 1 4 104 139 76 238 1
Low 192 176 81 64 118 39 1179 31 725 188 480 227 33 1 211 631 3
Below cutoff 1362 1596 855 327 872 211 1809 1003 2048 73 584 817 122 360 1193 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000264234   ⟹   ENSP00000264234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,173,598 - 119,205,143 (+)Ensembl
RefSeq Acc Id: ENST00000460625   ⟹   ENSP00000418116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,186,738 - 119,205,141 (+)Ensembl
RefSeq Acc Id: ENST00000479520   ⟹   ENSP00000418399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,173,600 - 119,194,258 (+)Ensembl
RefSeq Acc Id: ENST00000494855   ⟹   ENSP00000418597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,173,600 - 119,194,318 (+)Ensembl
RefSeq Acc Id: ENST00000497685   ⟹   ENSP00000418972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,173,517 - 119,204,112 (+)Ensembl
RefSeq Acc Id: NM_006952   ⟹   NP_008883
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,173,598 - 119,205,143 (+)NCBI
GRCh373118,892,425 - 118,924,000 (+)ENTREZGENE
Build 363120,375,115 - 120,406,690 (+)NCBI Archive
HuRef3116,267,873 - 116,299,468 (+)ENTREZGENE
CHM1_13118,855,896 - 118,887,435 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_008883   ⟸   NM_006952
- UniProtKB: O75841 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000418399   ⟸   ENST00000479520
RefSeq Acc Id: ENSP00000418597   ⟸   ENST00000494855
RefSeq Acc Id: ENSP00000418972   ⟸   ENST00000497685
RefSeq Acc Id: ENSP00000264234   ⟸   ENST00000264234
RefSeq Acc Id: ENSP00000418116   ⟸   ENST00000460625

Promoters
RGD ID:6865328
Promoter ID:EPDNEW_H5829
Type:initiation region
Name:UPK1B_1
Description:uroplakin 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5830  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,173,600 - 119,173,660EPDNEW
RGD ID:6865330
Promoter ID:EPDNEW_H5830
Type:initiation region
Name:UPK1B_2
Description:uroplakin 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5829  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,186,738 - 119,186,798EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1
pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2
pathogenic
NM_006952.3(UPK1B):c.648+2291G>T single nucleotide variant Lung cancer [RCV000092839] Chr3:119196689 [GRCh38]
Chr3:118915536 [GRCh37]
Chr3:3q13.32
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4 copy number gain See cases [RCV000135591] Chr3:117844958..120797026 [GRCh38]
Chr3:117563805..120515873 [GRCh37]
Chr3:119046495..121998563 [NCBI36]
Chr3:3q13.32-13.33
uncertain significance
GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 copy number loss See cases [RCV000135961] Chr3:115019074..122513398 [GRCh38]
Chr3:114737921..122232245 [GRCh37]
Chr3:116220611..123714935 [NCBI36]
Chr3:3q13.31-21.1
pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3
pathogenic
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2
pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4 copy number gain See cases [RCV000142877] Chr3:117844958..120826621 [GRCh38]
Chr3:117563805..120545468 [GRCh37]
Chr3:119046495..122028158 [NCBI36]
Chr3:3q13.32-13.33
uncertain significance
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 copy number loss See cases [RCV000142725] Chr3:112520553..120031022 [GRCh38]
Chr3:112239400..119749869 [GRCh37]
Chr3:113722090..121232559 [NCBI36]
Chr3:3q13.2-13.33
pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1 copy number loss not provided [RCV000682298] Chr3:115518341..122129283 [GRCh37]
Chr3:3q13.31-21.1
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q13.32(chr3:118733449-118963249)x4 copy number gain not provided [RCV001259227] Chr3:118733449..118963249 [GRCh37]
Chr3:3q13.32
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12578 AgrOrtholog
COSMIC UPK1B COSMIC
Ensembl Genes ENSG00000114638 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264234 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418116 UniProtKB/TrEMBL
  ENSP00000418399 UniProtKB/TrEMBL
  ENSP00000418597 UniProtKB/TrEMBL
  ENSP00000418972 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264234 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000460625 UniProtKB/TrEMBL
  ENST00000479520 UniProtKB/TrEMBL
  ENST00000494855 UniProtKB/TrEMBL
  ENST00000497685 UniProtKB/TrEMBL
GTEx ENSG00000114638 GTEx
HGNC ID HGNC:12578 ENTREZGENE
Human Proteome Map UPK1B Human Proteome Map
InterPro Tetraspanin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tetraspanin/Peripherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tetraspanin_EC2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Uroplakin-1b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7348 UniProtKB/Swiss-Prot
NCBI Gene 7348 ENTREZGENE
OMIM 602380 OMIM
PANTHER PTHR19282:SF24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tetraspanin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37210 PharmGKB
PRINTS TMFOUR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48652 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.271580 ENTREZGENE
UniProt C9J027_HUMAN UniProtKB/TrEMBL
  C9J6N2_HUMAN UniProtKB/TrEMBL
  C9J9M7_HUMAN UniProtKB/TrEMBL
  E7ETN9_HUMAN UniProtKB/TrEMBL
  O75841 ENTREZGENE
  Q6IAS0_HUMAN UniProtKB/TrEMBL
  UPK1B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O60753 UniProtKB/Swiss-Prot
  Q9UIM2 UniProtKB/Swiss-Prot
  Q9UNX6 UniProtKB/Swiss-Prot