COMMD5 (COMM domain containing 5) - Rat Genome Database

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Gene: COMMD5 (COMM domain containing 5) Homo sapiens
Analyze
Symbol: COMMD5
Name: COMM domain containing 5
RGD ID: 1348607
HGNC Page HGNC
Description: Predicted to be involved in proximal tubule morphogenesis. Localizes to cytosol and nucleoplasm; INTERACTS WITH aflatoxin B1; copper(II) chloride; doxorubicin.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: COMM domain-containing protein 5; FLJ13008; HCARG; HT002; hypertension-related calcium-regulated gene protein; MGC72046
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC101928879  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,841,042 - 144,853,736 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,837,978 - 144,853,556 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378146,075,561 - 146,078,941 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368146,046,355 - 146,049,736 (-)NCBINCBI36hg18NCBI36
Build 348146,034,168 - 146,049,203NCBI
Celera8142,252,099 - 142,255,480 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8141,191,401 - 141,194,782 (-)NCBIHuRef
CHM1_18146,113,837 - 146,117,249 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA)

Molecular Function

References

Additional References at PubMed
PMID:10918053   PMID:10931946   PMID:11871861   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15799966   PMID:18949406   PMID:19795399   PMID:21778237   PMID:21873635   PMID:21921141  
PMID:23563313   PMID:24515317   PMID:25355947   PMID:26186194   PMID:26344197   PMID:26496610   PMID:28514442   PMID:30021164   PMID:32296183   PMID:33060197  


Genomics

Comparative Map Data
COMMD5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,841,042 - 144,853,736 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,837,978 - 144,853,556 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378146,075,561 - 146,078,941 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368146,046,355 - 146,049,736 (-)NCBINCBI36hg18NCBI36
Build 348146,034,168 - 146,049,203NCBI
Celera8142,252,099 - 142,255,480 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8141,191,401 - 141,194,782 (-)NCBIHuRef
CHM1_18146,113,837 - 146,117,249 (-)NCBICHM1_1
Commd5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,783,903 - 76,786,089 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,784,110 - 76,785,505 (+)Ensembl
GRCm381576,899,941 - 76,901,297 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,899,910 - 76,901,305 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,730,371 - 76,731,727 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,727,196 - 76,728,552 (+)NCBImm8
Celera1578,394,972 - 78,396,328 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.28NCBI
Commd5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,621,766 - 108,623,616 (+)NCBI
Rnor_6.0 Ensembl7117,963,740 - 117,964,414 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl7118,502,676 - 118,504,097 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,963,213 - 117,965,010 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07118,495,267 - 118,497,078 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,949,725 - 114,951,149 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,983,954 - 114,985,374 (+)NCBI
Celera7104,970,718 - 104,972,142 (+)NCBICelera
Cytogenetic Map7q34NCBI
Commd5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,322,253 - 3,324,313 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,322,253 - 3,324,313 (-)NCBIChiLan1.0ChiLan1.0
COMMD5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,604,228 - 144,607,656 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,604,718 - 144,605,392 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,623,725 - 141,627,532 (-)NCBIMhudiblu_PPA_v0panPan3
COMMD5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11338,059,170 - 38,060,923 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1338,060,093 - 38,060,767 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1338,019,322 - 38,021,284 (+)NCBI
ROS_Cfam_1.01338,532,633 - 38,534,595 (+)NCBI
UMICH_Zoey_3.11338,224,204 - 38,226,166 (+)NCBI
UNSW_CanFamBas_1.01338,333,055 - 38,335,015 (+)NCBI
UU_Cfam_GSD_1.01338,809,445 - 38,811,407 (+)NCBI
Commd5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303165,788 - 167,805 (+)NCBI
SpeTri2.0NW_0049364707,591,783 - 7,593,904 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COMMD5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4175,843 - 181,063 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14178,527 - 180,842 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.248,465 - 10,782 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COMMD5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18139,053,761 - 139,057,069 (-)NCBI
ChlSab1.1 Ensembl8139,054,225 - 139,054,899 (-)Ensembl
Commd5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,154,180 - 12,155,452 (+)NCBI

Position Markers
RH71436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378146,068,343 - 146,068,483UniSTSGRCh37
Build 368146,039,147 - 146,039,287RGDNCBI36
Celera8142,244,908 - 142,245,048RGD
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map8q24UniSTS
HuRef8141,184,211 - 141,184,351UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1733
Count of miRNA genes:655
Interacting mature miRNAs:738
Transcripts:ENST00000305103, ENST00000402718, ENST00000450361, ENST00000529143, ENST00000530332, ENST00000533270
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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 2127 1768 1421 315 1454 186 3642 1081 2328 341 1411 1537 143 1161 2100 1
Low 312 1223 305 309 497 279 715 1116 1406 78 49 76 32 1 43 688 5 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001081003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001081004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF113540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF235103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF290195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW137480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX405845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX880097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG705627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI753202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM013651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM924244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ680339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU508224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU600590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H92104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000305103   ⟹   ENSP00000304544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,850,176 - 144,853,048 (-)Ensembl
RefSeq Acc Id: ENST00000402718   ⟹   ENSP00000385793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,850,166 - 144,853,067 (-)Ensembl
RefSeq Acc Id: ENST00000450361   ⟹   ENSP00000394331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,850,188 - 144,853,736 (-)Ensembl
RefSeq Acc Id: ENST00000529143   ⟹   ENSP00000435552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,850,825 - 144,852,657 (-)Ensembl
RefSeq Acc Id: ENST00000530332   ⟹   ENSP00000436382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,841,042 - 144,851,174 (-)Ensembl
RefSeq Acc Id: ENST00000533270   ⟹   ENSP00000433758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,850,826 - 144,853,003 (-)Ensembl
RefSeq Acc Id: ENST00000543949   ⟹   ENSP00000445840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,850,167 - 144,853,067 (-)Ensembl
RefSeq Acc Id: NM_001081003   ⟹   NP_001074472
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,850,176 - 144,853,556 (-)NCBI
GRCh378146,075,551 - 146,078,932 (-)RGD
GRCh378146,075,551 - 146,078,932 (-)NCBI
Build 368146,046,355 - 146,049,736 (-)NCBI Archive
Celera8142,252,099 - 142,255,480 (-)RGD
HuRef8141,191,401 - 141,194,813 (-)NCBI
CHM1_18146,113,837 - 146,117,249 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001081004   ⟹   NP_001074473
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,850,176 - 144,853,048 (-)NCBI
GRCh378146,075,551 - 146,078,932 (-)RGD
Build 368146,046,355 - 146,049,255 (-)NCBI Archive
Celera8142,252,099 - 142,255,480 (-)RGD
HuRef8141,191,401 - 141,194,813 (-)NCBI
CHM1_18146,113,837 - 146,116,738 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287237   ⟹   NP_001274166
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,850,176 - 144,853,048 (-)NCBI
HuRef8141,191,401 - 141,194,813 (-)NCBI
CHM1_18146,113,837 - 146,116,738 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014066   ⟹   NP_054785
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,850,176 - 144,853,048 (-)NCBI
GRCh378146,075,551 - 146,078,932 (-)RGD
Build 368146,046,355 - 146,049,256 (-)NCBI Archive
Celera8142,252,099 - 142,255,480 (-)RGD
HuRef8141,191,401 - 141,194,813 (-)NCBI
CHM1_18146,113,837 - 146,116,738 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956628
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,841,316 - 144,853,516 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956629
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,837,978 - 144,853,516 (-)NCBI
Sequence:
RefSeq Acc Id: XR_428379
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,841,316 - 144,853,029 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928321
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,841,316 - 144,853,063 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928323
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,841,316 - 144,852,705 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001074472   ⟸   NM_001081003
- UniProtKB: Q9GZQ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_054785   ⟸   NM_014066
- UniProtKB: Q9GZQ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001074473   ⟸   NM_001081004
- UniProtKB: Q9GZQ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274166   ⟸   NM_001287237
- UniProtKB: Q9GZQ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000394331   ⟸   ENST00000450361
RefSeq Acc Id: ENSP00000445840   ⟸   ENST00000543949
RefSeq Acc Id: ENSP00000436382   ⟸   ENST00000530332
RefSeq Acc Id: ENSP00000433758   ⟸   ENST00000533270
RefSeq Acc Id: ENSP00000385793   ⟸   ENST00000402718
RefSeq Acc Id: ENSP00000435552   ⟸   ENST00000529143
RefSeq Acc Id: ENSP00000304544   ⟸   ENST00000305103
Protein Domains
COMM

Promoters
RGD ID:7214523
Promoter ID:EPDNEW_H13008
Type:initiation region
Name:COMMD5_1
Description:COMM domain containing 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,853,029 - 144,853,089EPDNEW
RGD ID:6806571
Promoter ID:HG_KWN:62377
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC010MGF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368146,047,511 - 146,048,011 (-)MPROMDB
RGD ID:6806569
Promoter ID:HG_KWN:62378
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001081003,   NM_001081004,   NM_014066,   UC003ZEL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368146,049,049 - 146,049,549 (-)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 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
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(chr8:241530-145054634)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
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 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
NM_003416.3(ZNF7):c.1037A>C (p.Gln346Pro) single nucleotide variant Malignant melanoma [RCV000068217] Chr8:144842144 [GRCh38]
Chr8:146067529 [GRCh37]
Chr8:146038333 [NCBI36]
Chr8:8q24.3
not provided
NM_001282795.1(ZNF7):c.281-1449G>T single nucleotide variant Lung cancer [RCV000107239] Chr8:144839906 [GRCh38]
Chr8:146065291 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.22-24.3(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 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 8q21.3-24.3(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 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 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 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 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 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 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
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
GRCh37/hg19 8q24.3(chr8:145955543-146147494)x3 copy number gain not provided [RCV000748044] Chr8:145955543..146147494 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:146078864-146293414)x3 copy number gain not provided [RCV000748045] Chr8:146078864..146293414 [GRCh37]
Chr8:8q24.3
benign
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 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(chr8:145897164-146109987)x3 copy number gain not provided [RCV000846187] Chr8:145897164..146109987 [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 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
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 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17902 AgrOrtholog
COSMIC COMMD5 COSMIC
Ensembl Genes ENSG00000170619 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000304544 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385793 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394331 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433758 UniProtKB/TrEMBL
  ENSP00000435552 UniProtKB/TrEMBL
  ENSP00000436382 UniProtKB/TrEMBL
  ENSP00000445840 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305103 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402718 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000450361 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529143 UniProtKB/TrEMBL
  ENST00000530332 UniProtKB/TrEMBL
  ENST00000533270 UniProtKB/TrEMBL
  ENST00000543949 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000170619 GTEx
HGNC ID HGNC:17902 ENTREZGENE
Human Proteome Map COMMD5 Human Proteome Map
InterPro COMM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COMMD5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:28991 UniProtKB/Swiss-Prot
NCBI Gene 28991 ENTREZGENE
OMIM 608216 OMIM
PANTHER PTHR15666 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COMM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134873412 PharmGKB
PROSITE COMM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt COMD5_HUMAN UniProtKB/Swiss-Prot
  E9PJE4_HUMAN UniProtKB/TrEMBL
  H0YEQ6_HUMAN UniProtKB/TrEMBL
  Q9GZQ3 ENTREZGENE
UniProt Secondary D3DWN7 UniProtKB/Swiss-Prot
  Q9NVN6 UniProtKB/Swiss-Prot
  Q9UHX5 UniProtKB/Swiss-Prot