PCBP3 (poly(rC) binding protein 3) - Rat Genome Database
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Gene: PCBP3 (poly(rC) binding protein 3) Homo sapiens
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Symbol: PCBP3
Name: poly(rC) binding protein 3
RGD ID: 1316622
Description: Exhibits RNA binding activity. Predicted to be involved in regulation of RNA metabolic process and regulation of gene expression. Localizes to cytosol; extracellular exosome; and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALPHA-CP3; FLJ44028; PCBP3 overlapping transcript 1; PCBP3-OT1; PCBP3-overlapping transcript; PCBP3OT; poly(rC) binding protein 3 overlapping transcript; poly(rC)-binding protein 3
Orthologs:
Mus musculus (house mouse) : Pcbp3 (poly(rC) binding protein 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pcbp3 (poly(rC) binding protein 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pcbp3 (poly(rC) binding protein 3)
Pan paniscus (bonobo/pygmy chimpanzee) : PCBP3 (poly(rC) binding protein 3)
Canis lupus familiaris (dog) : PCBP3 (poly(rC) binding protein 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pcbp3 (poly(rC) binding protein 3)
Sus scrofa (pig) : PCBP3 (poly(rC) binding protein 3)
Chlorocebus sabaeus (African green monkey) : PCBP3 (poly(rC) binding protein 3)
Heterocephalus glaber (naked mole-rat) : Pcbp3 (poly(rC) binding protein 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2145,643,694 - 45,942,454 (+)EnsemblGRCh38hg38GRCh38
GRCh382145,643,725 - 45,942,454 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,268,023 - 47,362,368 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,094,303 - 46,186,795 (+)NCBINCBI36hg18NCBI36
Build 342146,094,302 - 46,186,795NCBI
Celera2132,382,957 - 32,473,995 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2132,648,695 - 32,742,937 (+)NCBIHuRef
CHM1_12146,830,711 - 46,923,863 (+)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
cytoplasm  (IBA)
cytosol  (HDA)
extracellular exosome  (HDA)
nucleus  (HDA,IBA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10830953   PMID:10936052   PMID:12003487   PMID:12358435   PMID:12477932   PMID:14612387   PMID:14702039   PMID:15489334   PMID:16051665   PMID:16713569   PMID:16780588   PMID:17643375  
PMID:18029348   PMID:19914360   PMID:20360068   PMID:21873635   PMID:21901158   PMID:22658674   PMID:22939629   PMID:23333304   PMID:23533145   PMID:23640898   PMID:23891004   PMID:26186194  
PMID:26618866   PMID:26638075   PMID:27462432   PMID:28514442   PMID:29509190   PMID:29845934   PMID:30275197   PMID:31405213   PMID:31980649   PMID:32296183  


Genomics

Comparative Map Data
PCBP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2145,643,694 - 45,942,454 (+)EnsemblGRCh38hg38GRCh38
GRCh382145,643,725 - 45,942,454 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,268,023 - 47,362,368 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,094,303 - 46,186,795 (+)NCBINCBI36hg18NCBI36
Build 342146,094,302 - 46,186,795NCBI
Celera2132,382,957 - 32,473,995 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2132,648,695 - 32,742,937 (+)NCBIHuRef
CHM1_12146,830,711 - 46,923,863 (+)NCBICHM1_1
Pcbp3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,597,688 - 76,797,951 (-)NCBI
GRCm381076,761,854 - 76,962,117 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,761,857 - 76,961,887 (-)EnsemblGRCm38mm10GRCm38
MGSCv371076,224,599 - 76,424,692 (-)NCBIGRCm37mm9NCBIm37
MGSCv361076,205,573 - 76,405,504 (-)NCBImm8
Celera1077,806,064 - 78,005,944 (-)NCBICelera
Cytogenetic Map10C1NCBI
Pcbp3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02012,429,255 - 12,629,985 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,429,315 - 12,629,981 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02014,590,187 - 14,789,566 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42012,089,173 - 12,290,273 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12012,089,399 - 12,290,500 (+)NCBI
Celera2013,177,980 - 13,376,670 (+)NCBICelera
Cytogenetic Map20p12NCBI
Pcbp3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,377,972 - 42,446,722 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,395,149 - 42,447,312 (+)NCBIChiLan1.0ChiLan1.0
PCBP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12145,248,322 - 45,545,909 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,450,722 - 45,545,909 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02131,972,644 - 32,282,794 (+)NCBI
PCBP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3139,025,731 - 39,275,239 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13139,025,744 - 39,275,239 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Pcbp3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936778552,290 - 720,724 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCBP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.113208,060,949 - 208,259,368 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213218,271,388 - 218,334,499 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PCBP3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,304,497 - 89,585,037 (+)NCBI
Pcbp3
(Heterocephalus glaber - naked mole-rat)
No map positions available.

Position Markers
D21S112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,328,106 - 47,328,387UniSTSGRCh37
Build 362146,152,534 - 46,152,815RGDNCBI36
Celera2132,441,307 - 32,441,588RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,707,746 - 32,708,027UniSTS
Marshfield Genetic Map2151.49UniSTS
Marshfield Genetic Map2151.49RGD
SHGC-87718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,280,009 - 47,280,149UniSTSGRCh37
Build 362146,104,437 - 46,104,577RGDNCBI36
Celera2132,392,857 - 32,392,997RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,658,590 - 32,658,729UniSTS
TNG Radiation Hybrid Map2119782.0UniSTS
GeneMap99-GB4 RH Map21250.17UniSTS
NCBI RH Map21407.7UniSTS
RH38906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,268,234 - 47,268,389UniSTSGRCh37
GRCh371194,390,283 - 94,390,431UniSTSGRCh37
Build 361194,029,931 - 94,030,079RGDNCBI36
Celera2132,381,316 - 32,381,471UniSTS
Celera1191,678,076 - 91,678,224RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,647,054 - 32,647,209UniSTS
HuRef1190,455,449 - 90,455,597UniSTS
RH102232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,353,186 - 47,353,362UniSTSGRCh37
Build 362146,177,614 - 46,177,790RGDNCBI36
Celera2132,464,812 - 32,464,988RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,733,725 - 32,733,901UniSTS
GeneMap99-GB4 RH Map21250.17UniSTS
STS_CEB290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,305,924 - 47,306,756UniSTSGRCh37
Build 362146,130,352 - 46,131,184RGDNCBI36
Celera2132,418,772 - 32,419,604RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,684,502 - 32,685,334UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6091
Count of miRNA genes:1099
Interacting mature miRNAs:1384
Transcripts:ENST00000400304, ENST00000400305, ENST00000400308, ENST00000400309, ENST00000400310, ENST00000400314, ENST00000423045, ENST00000449640, ENST00000465077, ENST00000468429, ENST00000472191, ENST00000475402, ENST00000481302, ENST00000498121, ENST00000549265, ENST00000593338, ENST00000594149, ENST00000594320, ENST00000609985, ENST00000610200
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 pharyngeal arch
High
Medium 258 4 213 3 45 3 55 136 740 6 350 44 55 21
Low 2020 1978 854 206 1307 84 2960 960 2934 194 911 1219 128 1 1143 1555 1
Below cutoff 114 1005 612 376 498 336 1316 1084 45 178 159 314 42 6 1207 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001130141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_145492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_145493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF176329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY780793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000400304   ⟹   ENSP00000383159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,896,294 - 45,941,706 (+)Ensembl
RefSeq Acc Id: ENST00000400305   ⟹   ENSP00000383160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,896,270 - 45,942,454 (+)Ensembl
RefSeq Acc Id: ENST00000400308   ⟹   ENSP00000383163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,849,961 - 45,942,454 (+)Ensembl
RefSeq Acc Id: ENST00000400309   ⟹   ENSP00000383164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,849,961 - 45,942,454 (+)Ensembl
RefSeq Acc Id: ENST00000400310   ⟹   ENSP00000383165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,848,163 - 45,942,454 (+)Ensembl
RefSeq Acc Id: ENST00000400314   ⟹   ENSP00000383168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,643,694 - 45,942,454 (+)Ensembl
RefSeq Acc Id: ENST00000423045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,750,194 - 45,752,986 (+)Ensembl
RefSeq Acc Id: ENST00000449640   ⟹   ENSP00000401198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,849,990 - 45,941,706 (+)Ensembl
RefSeq Acc Id: ENST00000465077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,643,694 - 45,788,739 (+)Ensembl
RefSeq Acc Id: ENST00000468429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,901,015 - 45,940,199 (+)Ensembl
RefSeq Acc Id: ENST00000472191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,643,710 - 45,669,032 (+)Ensembl
RefSeq Acc Id: ENST00000475402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,914,038 - 45,941,883 (+)Ensembl
RefSeq Acc Id: ENST00000481302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,853,971 - 45,859,777 (+)Ensembl
RefSeq Acc Id: ENST00000498121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,858,937 - 45,901,590 (+)Ensembl
RefSeq Acc Id: ENST00000549265   ⟹   ENSP00000448986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,893,877 - 45,896,309 (+)Ensembl
RefSeq Acc Id: ENST00000593338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,735,392 - 45,749,899 (+)Ensembl
RefSeq Acc Id: ENST00000594149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,673,555 - 45,751,056 (+)Ensembl
RefSeq Acc Id: ENST00000594320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,749,393 - 45,750,475 (+)Ensembl
RefSeq Acc Id: ENST00000609985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,748,023 - 45,749,956 (+)Ensembl
RefSeq Acc Id: ENST00000610200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,749,684 - 45,751,478 (+)Ensembl
RefSeq Acc Id: ENST00000628776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,732,725 - 45,750,030 (+)Ensembl
RefSeq Acc Id: NM_001130141   ⟹   NP_001123613
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,848,150 - 45,942,450 (+)NCBI
GRCh372147,268,023 - 47,362,368 (+)NCBI
Celera2132,382,957 - 32,473,995 (+)RGD
HuRef2132,648,695 - 32,742,937 (+)RGD
CHM1_12146,830,711 - 46,923,863 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348238   ⟹   NP_001335167
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348239   ⟹   NP_001335168
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348240   ⟹   NP_001335169
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348241   ⟹   NP_001335170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348242   ⟹   NP_001335171
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348243   ⟹   NP_001335172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,748,014 - 45,942,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348244   ⟹   NP_001335173
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,848,150 - 45,942,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348245   ⟹   NP_001335174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,848,150 - 45,942,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382276   ⟹   NP_001369205
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382277   ⟹   NP_001369206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,748,014 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382278   ⟹   NP_001369207
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,848,150 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382279   ⟹   NP_001369208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,848,150 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382281   ⟹   NP_001369210
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382282   ⟹   NP_001369211
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382283   ⟹   NP_001369212
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382284   ⟹   NP_001369213
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382285   ⟹   NP_001369214
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382286   ⟹   NP_001369215
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382287   ⟹   NP_001369216
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001382288   ⟹   NP_001369217
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_001384156   ⟹   NP_001371085
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
RefSeq Acc Id: NM_020528   ⟹   NP_065389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,848,150 - 45,942,450 (+)NCBI
GRCh372147,268,023 - 47,362,368 (+)NCBI
Build 362146,094,303 - 46,186,795 (+)NCBI Archive
Celera2132,382,957 - 32,473,995 (+)RGD
HuRef2132,648,695 - 32,742,937 (+)RGD
CHM1_12146,830,711 - 46,923,863 (+)NCBI
Sequence:
RefSeq Acc Id: NR_145492
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,725 - 45,942,450 (+)NCBI
Sequence:
RefSeq Acc Id: NR_145493
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,848,150 - 45,942,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452086   ⟹   XP_024307854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,746 - 45,919,478 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452087   ⟹   XP_024307855
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,746 - 45,919,478 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452088   ⟹   XP_024307856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,827 - 45,919,478 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452089   ⟹   XP_024307857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,730 - 45,919,478 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452090   ⟹   XP_024307858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,746 - 45,919,478 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452091   ⟹   XP_024307859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,643,746 - 45,919,478 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452092   ⟹   XP_024307860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452093   ⟹   XP_024307861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452094   ⟹   XP_024307862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,937,129 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452095   ⟹   XP_024307863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452096   ⟹   XP_024307864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452097   ⟹   XP_024307865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452098   ⟹   XP_024307866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452099   ⟹   XP_024307867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452100   ⟹   XP_024307868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,938,371 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452101   ⟹   XP_024307869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452102   ⟹   XP_024307870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452103   ⟹   XP_024307871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452104   ⟹   XP_024307872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,940,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452105   ⟹   XP_024307873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,937,203 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452106   ⟹   XP_024307874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,936,215 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452107   ⟹   XP_024307875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,938,443 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452108   ⟹   XP_024307876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452109   ⟹   XP_024307877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452110   ⟹   XP_024307878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,940,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452112   ⟹   XP_024307880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,849,990 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452116   ⟹   XP_024307884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,748,044 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452119   ⟹   XP_024307887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,849,990 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452120   ⟹   XP_024307888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,849,990 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958604
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,940,118 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958606
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958607
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958609
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958610
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,940,118 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958612
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,940,118 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958613
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958615
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,942,454 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958616
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,850,012 - 45,940,118 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001123613 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335167 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335168 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335169 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335170 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335171 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335172 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335173 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335174 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369205 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369206 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369207 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369208 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369210 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369211 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369212 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369213 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369214 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369215 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369216 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369217 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371085 (Get FASTA)   NCBI Sequence Viewer  
  NP_065389 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307854 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307855 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307856 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307857 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307858 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307859 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307860 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307861 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307862 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307863 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307864 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307865 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307866 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307867 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307868 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307869 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307870 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307871 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307872 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307873 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307874 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307875 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307876 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307877 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307878 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307880 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307884 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307887 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307888 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG09240 (Get FASTA)   NCBI Sequence Viewer  
  AAH12061 (Get FASTA)   NCBI Sequence Viewer  
  AAV98363 (Get FASTA)   NCBI Sequence Viewer  
  BAC04327 (Get FASTA)   NCBI Sequence Viewer  
  EAX09323 (Get FASTA)   NCBI Sequence Viewer  
  EAX09324 (Get FASTA)   NCBI Sequence Viewer  
  EAX09325 (Get FASTA)   NCBI Sequence Viewer  
  EAX09326 (Get FASTA)   NCBI Sequence Viewer  
  P57721 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_065389   ⟸   NM_020528
- Peptide Label: isoform 1
- UniProtKB: P57721 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001123613   ⟸   NM_001130141
- Peptide Label: isoform 2
- UniProtKB: P57721 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001335168   ⟸   NM_001348239
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001335167   ⟸   NM_001348238
- Peptide Label: isoform 3
- UniProtKB: P57721 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001335169   ⟸   NM_001348240
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: XP_024307857   ⟸   XM_024452089
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024307855   ⟸   XM_024452087
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024307854   ⟸   XM_024452086
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024307858   ⟸   XM_024452090
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024307859   ⟸   XM_024452091
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024307856   ⟸   XM_024452088
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001335171   ⟸   NM_001348242
- Peptide Label: isoform 7
- UniProtKB: P57721 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001335170   ⟸   NM_001348241
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001335172   ⟸   NM_001348243
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: XP_024307884   ⟸   XM_024452116
- Peptide Label: isoform X24
- Sequence:
RefSeq Acc Id: NP_001335174   ⟸   NM_001348245
- Peptide Label: isoform 10
- Sequence:
RefSeq Acc Id: NP_001335173   ⟸   NM_001348244
- Peptide Label: isoform 9
- UniProtKB: P57721 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024307880   ⟸   XM_024452112
- Peptide Label: isoform X21
- Sequence:
RefSeq Acc Id: XP_024307888   ⟸   XM_024452120
- Peptide Label: isoform X27
- Sequence:
RefSeq Acc Id: XP_024307887   ⟸   XM_024452119
- Peptide Label: isoform X26
- Sequence:
RefSeq Acc Id: XP_024307864   ⟸   XM_024452096
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_024307860   ⟸   XM_024452092
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024307865   ⟸   XM_024452097
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_024307861   ⟸   XM_024452093
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024307866   ⟸   XM_024452098
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_024307867   ⟸   XM_024452099
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_024307870   ⟸   XM_024452102
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_024307869   ⟸   XM_024452101
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_024307871   ⟸   XM_024452103
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_024307863   ⟸   XM_024452095
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024307876   ⟸   XM_024452108
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_024307877   ⟸   XM_024452109
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_024307872   ⟸   XM_024452104
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_024307878   ⟸   XM_024452110
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_024307875   ⟸   XM_024452107
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_024307868   ⟸   XM_024452100
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_024307873   ⟸   XM_024452105
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_024307862   ⟸   XM_024452094
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024307874   ⟸   XM_024452106
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: NP_001369213   ⟸   NM_001382284
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369215   ⟸   NM_001382286
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369205   ⟸   NM_001382276
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001369214   ⟸   NM_001382285
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369212   ⟸   NM_001382283
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369211   ⟸   NM_001382282
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369217   ⟸   NM_001382288
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369216   ⟸   NM_001382287
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369210   ⟸   NM_001382281
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369206   ⟸   NM_001382277
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001369208   ⟸   NM_001382279
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001369207   ⟸   NM_001382278
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000383160   ⟸   ENST00000400305
RefSeq Acc Id: ENSP00000383159   ⟸   ENST00000400304
RefSeq Acc Id: ENSP00000383164   ⟸   ENST00000400309
RefSeq Acc Id: ENSP00000383163   ⟸   ENST00000400308
RefSeq Acc Id: ENSP00000383165   ⟸   ENST00000400310
RefSeq Acc Id: ENSP00000383168   ⟸   ENST00000400314
RefSeq Acc Id: ENSP00000448986   ⟸   ENST00000549265
RefSeq Acc Id: ENSP00000401198   ⟸   ENST00000449640
RefSeq Acc Id: NP_001371085   ⟸   NM_001384156
- Peptide Label: isoform 1
Protein Domains
KH


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3 copy number gain See cases [RCV000052831] Chr21:45084236..45991858 [GRCh38]
Chr21:46504151..47411772 [GRCh37]
Chr21:45328579..46236200 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 copy number loss See cases [RCV000052841] Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 copy number loss See cases [RCV000052864] Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 copy number loss See cases [RCV000052866] Chr21:45801860..46670405 [GRCh38]
Chr21:47221774..48090317 [GRCh37]
Chr21:46046202..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001130141.1(PCBP3):c.1001+1G>A single nucleotide variant Malignant melanoma [RCV000063858] Chr21:45940200 [GRCh38]
Chr21:47360114 [GRCh37]
Chr21:46184542 [NCBI36]
Chr21:21q22.3
not provided
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 copy number gain See cases [RCV000137820] Chr21:45877354..46543273 [GRCh38]
Chr21:47297268..47963186 [GRCh37]
Chr21:46121696..46787614 [NCBI36]
Chr21:21q22.3
likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 copy number loss See cases [RCV000141901] Chr21:45903036..46677460 [GRCh38]
Chr21:47322950..48097372 [GRCh37]
Chr21:46147378..46921800 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1 copy number loss Ductal breast carcinoma [RCV000207179] Chr21:45850091..46137287 [GRCh38]
Chr21:47270005..47557201 [GRCh37]
Chr21:21q22.3
uncertain significance
Single allele deletion Axenfeld-Rieger syndrome type 3 [RCV000677943] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
chr21:45970718..47545826 complex variant complex Ductal breast carcinoma [RCV000207279] Chr21:45970718..47545826 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 copy number loss See cases [RCV000449447] Chr21:46955240..48080867 [GRCh37]
Chr21:21q22.3
likely pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45821582-47383056)x1 copy number loss not provided [RCV000741633] Chr21:45821582..47383056 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_020528.2(PCBP3):c.1086G>A (p.Thr362=) single nucleotide variant not provided [RCV000962763] Chr21:45941676 [GRCh38]
Chr21:47361590 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_020528.2(PCBP3):c.15C>T (p.Asp5=) single nucleotide variant not provided [RCV000884914] Chr21:45896212 [GRCh38]
Chr21:47316126 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 copy number loss not provided [RCV000847671] Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47168513-47418361)x3 copy number gain not provided [RCV000846508] Chr21:47168513..47418361 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1 copy number loss not provided [RCV001007150] Chr21:46749869..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8651 AgrOrtholog
COSMIC PCBP3 COSMIC
Ensembl Genes ENSG00000183570 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000383159 UniProtKB/TrEMBL
  ENSP00000383160 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000383163 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000383164 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000383165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000383168 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401198 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000400304 UniProtKB/TrEMBL
  ENST00000400305 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000400308 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000400309 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000400310 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000400314 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000449640 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.30.1370.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183570 GTEx
HGNC ID HGNC:8651 ENTREZGENE
Human Proteome Map PCBP3 Human Proteome Map
InterPro KH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KH_dom_type_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KH_dom_type_1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54039 UniProtKB/Swiss-Prot
NCBI Gene 54039 ENTREZGENE
OMIM 608502 OMIM
Pfam KH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32990 PharmGKB
PROSITE KH_TYPE_1 UniProtKB/Swiss-Prot
SMART SM00322 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54791 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.474049 ENTREZGENE
UniProt E9PFP8_HUMAN UniProtKB/TrEMBL
  J3QT27_HUMAN UniProtKB/TrEMBL
  P57721 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5MJP6_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8MPS2 UniProtKB/Swiss-Prot
  A8MQ26 UniProtKB/Swiss-Prot
  B7WNN9 UniProtKB/Swiss-Prot
  B7WPC1 UniProtKB/Swiss-Prot
  Q8N9K6 UniProtKB/Swiss-Prot
  Q96EP6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-11-21 PCBP3  poly(rC) binding protein 3  PCBP3-OT1  PCBP3 overlapping transcript 1  Data Merged 737654 PROVISIONAL
2016-04-12 PCBP3-OT1  PCBP3 overlapping transcript 1  PCBP3OT  poly(rC) binding protein 3 overlapping transcript  Symbol and/or name change 5135510 APPROVED
2011-09-01 PCBP3  poly(rC) binding protein 3  PCBP3  poly(rC) binding protein 3  Symbol and/or name change 5135510 APPROVED

 



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