COMMD1 (copper metabolism domain containing 1) - Rat Genome Database
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Gene: COMMD1 (copper metabolism domain containing 1) Homo sapiens
Analyze
Symbol: COMMD1
Name: copper metabolism domain containing 1
RGD ID: 1323402
HGNC Page HGNC
Description: Exhibits several functions, including phosphatidylinositol-3,4-bisphosphate binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including negative regulation of NF-kappaB transcription factor activity; negative regulation of protein localization to cell surface; and regulation of cellular protein metabolic process. Localizes to several cellular components, including Cul2-RING ubiquitin ligase complex; endosome; and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C2orf5; COMM domain containing 1; COMM domain-containing protein 1; copper metabolism (Murr1) domain containing 1; copper metabolism gene MURR1; MGC27155; MURR1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl261,888,724 - 62,147,247 (+)EnsemblGRCh38hg38GRCh38
GRCh38261,888,391 - 62,136,066 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37262,115,526 - 62,368,321 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36261,986,307 - 62,216,709 (+)NCBINCBI36hg18NCBI36
Build 34262,044,453 - 62,274,855NCBI
Celera261,977,700 - 62,207,946 (+)NCBI
Cytogenetic Map2p15NCBI
HuRef261,871,871 - 62,101,672 (+)NCBIHuRef
CHM1_1262,045,803 - 62,293,462 (+)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

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:8125298   PMID:9001233   PMID:11329013   PMID:11809725   PMID:12477932   PMID:12547404   PMID:12968035   PMID:14568250   PMID:14645214   PMID:14685242   PMID:14685266   PMID:15205742  
PMID:15489334   PMID:15799966   PMID:16267171   PMID:16283886   PMID:16305817   PMID:16573520   PMID:16649058   PMID:17097678   PMID:17183367   PMID:17207965   PMID:17213182   PMID:17309234  
PMID:17919502   PMID:18029348   PMID:18305112   PMID:18624398   PMID:18795889   PMID:18940794   PMID:18974300   PMID:19240061   PMID:19270718   PMID:19339690   PMID:19433587   PMID:19802386  
PMID:20048074   PMID:20068069   PMID:20237237   PMID:20379614   PMID:20458141   PMID:20550661   PMID:20595380   PMID:21275100   PMID:21483833   PMID:21667063   PMID:21741370   PMID:21778237  
PMID:21873635   PMID:21988832   PMID:22130675   PMID:22677543   PMID:22779921   PMID:22990118   PMID:23144634   PMID:23364987   PMID:23376485   PMID:23383273   PMID:23515529   PMID:23563313  
PMID:23677795   PMID:23892095   PMID:24625556   PMID:24691167   PMID:25074812   PMID:25355947   PMID:25416956   PMID:25520503   PMID:25959826   PMID:26060140   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:26586569   PMID:26638075   PMID:26733542   PMID:27677741   PMID:27705803   PMID:28514442   PMID:28604741   PMID:28723554   PMID:28892079   PMID:29117863   PMID:29336469  
PMID:29987050   PMID:29991678   PMID:30667321   PMID:30833792   PMID:31257505   PMID:32296183   PMID:32645484   PMID:33060197  


Genomics

Comparative Map Data
COMMD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl261,888,724 - 62,147,247 (+)EnsemblGRCh38hg38GRCh38
GRCh38261,888,391 - 62,136,066 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37262,115,526 - 62,368,321 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36261,986,307 - 62,216,709 (+)NCBINCBI36hg18NCBI36
Build 34262,044,453 - 62,274,855NCBI
Celera261,977,700 - 62,207,946 (+)NCBI
Cytogenetic Map2p15NCBI
HuRef261,871,871 - 62,101,672 (+)NCBIHuRef
CHM1_1262,045,803 - 62,293,462 (+)NCBICHM1_1
Commd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391122,849,728 - 22,934,539 (-)NCBIGRCm39mm39
GRCm39 Ensembl1122,846,136 - 22,932,382 (-)Ensembl
GRCm381122,899,728 - 22,984,539 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1122,896,136 - 22,982,382 (-)EnsemblGRCm38mm10GRCm38
MGSCv371122,799,728 - 22,882,284 (-)NCBIGRCm37mm9NCBIm37
MGSCv361122,799,728 - 22,882,284 (-)NCBImm8
Celera1125,035,441 - 25,117,915 (-)NCBICelera
Cytogenetic Map11A3.2NCBI
cM Map1114.22NCBI
Commd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21496,880,463 - 96,984,494 (-)NCBI
Rnor_6.0 Ensembl14107,664,255 - 107,760,191 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.014107,664,321 - 107,759,974 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.014107,804,733 - 107,835,993 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.014107,724,470 - 107,726,728 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.414103,571,472 - 103,667,692 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1495,868,544 - 95,965,715 (-)NCBICelera
Cytogenetic Map14q22NCBI
Commd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542421,927,079 - 22,050,371 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542421,962,837 - 22,067,745 (-)NCBIChiLan1.0ChiLan1.0
COMMD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A63,121,490 - 63,349,256 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A63,121,521 - 63,349,131 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A61,970,830 - 62,216,677 (+)NCBIMhudiblu_PPA_v0panPan3
COMMD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11061,886,281 - 62,059,610 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1061,886,281 - 62,059,591 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1061,775,492 - 61,947,762 (+)NCBI
ROS_Cfam_1.01062,894,268 - 63,067,243 (+)NCBI
UMICH_Zoey_3.11062,578,128 - 62,750,820 (+)NCBI
UNSW_CanFamBas_1.01062,882,129 - 63,053,837 (+)NCBI
UU_Cfam_GSD_1.01063,177,646 - 63,350,655 (+)NCBI
Dog Cytomap10q26NCBI
Commd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629221,150,249 - 21,324,134 (-)NCBI
SpeTri2.0NW_0049364917,247,160 - 7,421,039 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COMMD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl379,770,565 - 79,913,975 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1379,770,315 - 79,913,969 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2383,605,344 - 83,748,646 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COMMD1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11444,839,460 - 45,068,764 (-)NCBI
ChlSab1.1 Ensembl1444,839,542 - 45,068,586 (-)Ensembl
Commd1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476211,302,730 - 11,407,074 (-)NCBI

Position Markers
D2S2165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,184,179 - 62,184,295UniSTSGRCh37
Build 36262,037,683 - 62,037,799RGDNCBI36
Celera262,029,037 - 62,029,153RGD
Cytogenetic Map2p15UniSTS
HuRef261,923,146 - 61,923,262UniSTS
Marshfield Genetic Map280.69RGD
Marshfield Genetic Map280.69UniSTS
Genethon Genetic Map283.5UniSTS
TNG Radiation Hybrid Map239266.0UniSTS
deCODE Assembly Map283.98UniSTS
GeneMap99-G3 RH Map22461.0UniSTS
RH79649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,305,117 - 62,305,363UniSTSGRCh37
GRCh371145,741,338 - 145,742,324UniSTSGRCh37
Build 36262,158,621 - 62,158,867RGDNCBI36
Celera1119,944,350 - 119,945,336UniSTS
Celera262,149,878 - 62,150,124RGD
Cytogenetic Map2p15UniSTS
Cytogenetic Map1q21UniSTS
HuRef262,043,603 - 62,043,849UniSTS
GeneMap99-GB4 RH Map2194.19UniSTS
RH125633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,227,851 - 62,228,019UniSTSGRCh37
Build 36262,081,355 - 62,081,523RGDNCBI36
Celera262,073,258 - 62,073,426RGD
Cytogenetic Map2p15UniSTS
HuRef261,966,623 - 61,966,791UniSTS
WI-16949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,362,997 - 62,363,146UniSTSGRCh37
Build 36262,216,501 - 62,216,650RGDNCBI36
Celera262,207,738 - 62,207,887RGD
Cytogenetic Map2p15UniSTS
HuRef262,101,464 - 62,101,613UniSTS
GeneMap99-GB4 RH Map2193.67UniSTS
Whitehead-RH Map2259.7UniSTS
RH70369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,241,376 - 62,241,568UniSTSGRCh37
Build 36262,094,880 - 62,095,072RGDNCBI36
Celera262,086,663 - 62,086,855RGD
Cytogenetic Map2p15UniSTS
HuRef261,980,150 - 61,980,342UniSTS
GeneMap99-GB4 RH Map2194.5UniSTS
NCBI RH Map2349.4UniSTS
AFMB057ZC1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,235,415 - 62,235,641UniSTSGRCh37
Build 36262,088,919 - 62,089,145RGDNCBI36
Celera262,080,822 - 62,081,048RGD
Cytogenetic Map2p15UniSTS
HuRef261,974,192 - 61,974,418UniSTS
Whitehead-YAC Contig Map2 UniSTS
COMMD1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37262,227,945 - 62,228,060UniSTSGRCh37
Celera262,073,352 - 62,073,467UniSTS
HuRef261,966,717 - 61,966,832UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1605
Count of miRNA genes:751
Interacting mature miRNAs:851
Transcripts:ENST00000311832, ENST00000427417, ENST00000444166, ENST00000445644, ENST00000455659, ENST00000458337, ENST00000471704, ENST00000472729, ENST00000538736
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2270 2270 1562 467 1281 308 4314 2060 2954 367 1442 1594 171 1201 2752 4
Low 169 721 164 157 669 157 43 137 780 52 18 19 3 1 3 36 1 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001321781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB178811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG182961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG183486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG215225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D85433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT217730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY001060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY039942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF616412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311832   ⟹   ENSP00000308236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl261,905,647 - 62,136,247 (+)Ensembl
RefSeq Acc Id: ENST00000427417   ⟹   ENSP00000413207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl262,000,979 - 62,147,247 (+)Ensembl
RefSeq Acc Id: ENST00000444166   ⟹   ENSP00000410050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl262,135,845 - 62,146,926 (+)Ensembl
RefSeq Acc Id: ENST00000445644   ⟹   ENSP00000416997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl261,905,647 - 62,000,875 (+)Ensembl
RefSeq Acc Id: ENST00000455659   ⟹   ENSP00000398727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl261,905,758 - 62,000,847 (+)Ensembl
RefSeq Acc Id: ENST00000458337   ⟹   ENSP00000401236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl262,000,979 - 62,146,914 (+)Ensembl
RefSeq Acc Id: ENST00000471704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl261,905,647 - 62,001,092 (+)Ensembl
RefSeq Acc Id: ENST00000472729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl261,888,724 - 62,136,058 (+)Ensembl
RefSeq Acc Id: NM_001321781   ⟹   NP_001308710
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38261,888,700 - 62,141,186 (+)NCBI
GRCh38261,888,725 - 62,136,058 (+)NCBI
CHM1_1262,045,803 - 62,293,462 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321782   ⟹   NP_001308711
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38261,888,700 - 62,141,186 (+)NCBI
GRCh38261,888,725 - 62,136,058 (+)NCBI
CHM1_1262,045,803 - 62,293,462 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371765   ⟹   NP_001358694
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38261,888,391 - 62,136,058 (+)NCBI
GRCh38261,888,391 - 62,141,186 (+)NCBI
RefSeq Acc Id: NM_152516   ⟹   NP_689729
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38261,905,674 - 62,136,058 (+)NCBI
GRCh38261,905,642 - 62,136,070 (+)NCBI
GRCh37262,115,904 - 62,363,205 (+)NCBI
Build 36261,986,307 - 62,216,709 (+)NCBI Archive
HuRef261,871,871 - 62,101,672 (+)ENTREZGENE
CHM1_1262,062,700 - 62,293,462 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532558   ⟹   XP_011530860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38261,905,644 - 62,014,488 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532559   ⟹   XP_011530861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38261,944,952 - 62,136,066 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003412   ⟹   XP_016858901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38261,920,842 - 62,136,066 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689729   ⟸   NM_152516
- Peptide Label: isoform 1
- UniProtKB: Q8N668 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530860   ⟸   XM_011532558
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011530861   ⟸   XM_011532559
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001308710   ⟸   NM_001321781
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001308711   ⟸   NM_001321782
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_016858901   ⟸   XM_017003412
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001358694   ⟸   NM_001371765
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000413207   ⟸   ENST00000427417
RefSeq Acc Id: ENSP00000398727   ⟸   ENST00000455659
RefSeq Acc Id: ENSP00000308236   ⟸   ENST00000311832
RefSeq Acc Id: ENSP00000410050   ⟸   ENST00000444166
RefSeq Acc Id: ENSP00000401236   ⟸   ENST00000458337
RefSeq Acc Id: ENSP00000416997   ⟸   ENST00000445644
Protein Domains
COMM   COMMD1_N

Promoters
RGD ID:6860416
Promoter ID:EPDNEW_H3373
Type:initiation region
Name:COMMD1_1
Description:copper metabolism domain containing 1
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
GRCh38261,905,674 - 61,905,734EPDNEW
RGD ID:6797004
Promoter ID:HG_KWN:32850
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000251607,   OTTHUMT00000327132,   OTTHUMT00000327133,   OTTHUMT00000327136
Position:
Human AssemblyChrPosition (strand)Source
Build 36261,986,064 - 61,986,564 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1 copy number loss See cases [RCV000050796] Chr2:59658846..62336083 [GRCh38]
Chr2:59885981..62563218 [GRCh37]
Chr2:59739485..62416722 [NCBI36]
Chr2:2p16.1-15
pathogenic
GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3 copy number gain See cases [RCV000052660] Chr2:60009106..62006709 [GRCh38]
Chr2:60236241..62233844 [GRCh37]
Chr2:60089745..62087348 [NCBI36]
Chr2:2p16.1-15
uncertain significance
GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1 copy number loss See cases [RCV000054020] Chr2:56738054..62473668 [GRCh38]
Chr2:56965189..62700803 [GRCh37]
Chr2:56818693..62554307 [NCBI36]
Chr2:2p16.1-15
pathogenic
GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1 copy number loss See cases [RCV000054022] Chr2:58873039..64190332 [GRCh38]
Chr2:59100174..64417466 [GRCh37]
Chr2:58953678..64270970 [NCBI36]
Chr2:2p16.1-14
pathogenic
GRCh38/hg38 2p15(chr2:61515438-62305848)x1 copy number loss See cases [RCV000054053] Chr2:61515438..62305848 [GRCh38]
Chr2:61742573..62532983 [GRCh37]
Chr2:61596077..62386487 [NCBI36]
Chr2:2p15
pathogenic
NM_152516.2(COMMD1):c.315C>T (p.Ile105=) single nucleotide variant Malignant melanoma [RCV000065640] Chr2:62000835 [GRCh38]
Chr2:62227970 [GRCh37]
Chr2:62081474 [NCBI36]
Chr2:2p15
not provided
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p15(chr2:62006650-62779065)x3 copy number gain See cases [RCV000138882] Chr2:62006650..62779065 [GRCh38]
Chr2:62233785..63006200 [GRCh37]
Chr2:62087289..62859704 [NCBI36]
Chr2:2p15
likely benign
GRCh38/hg38 2p15(chr2:62031155-62779065)x3 copy number gain See cases [RCV000141102] Chr2:62031155..62779065 [GRCh38]
Chr2:62258290..63006200 [GRCh37]
Chr2:62111794..62859704 [NCBI36]
Chr2:2p15
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1 copy number loss See cases [RCV000143007] Chr2:58031916..63611810 [GRCh38]
Chr2:58259051..63838944 [GRCh37]
Chr2:58112555..63692448 [NCBI36]
Chr2:2p16.1-15
pathogenic
GRCh37/hg19 2p16.1-15(chr2:57445335-62733206) copy number loss not provided [RCV000767552] Chr2:57445335..62733206 [GRCh37]
Chr2:2p16.1-15
likely pathogenic
GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3 copy number gain See cases [RCV000239924] Chr2:60405806..62442792 [GRCh37]
Chr2:2p16.1-15
uncertain significance
GRCh37/hg19 2p16.1-15(chr2:58837279-63720819)x1 copy number loss See cases [RCV000449133] Chr2:58837279..63720819 [GRCh37]
Chr2:2p16.1-15
pathogenic
NC_000002.12:g.(?_61374256)_(62493432_?)dup duplication Schizophrenia [RCV000416716] Chr2:61374256..62493432 [GRCh38]
Chr2:61601391..62720567 [GRCh37]
Chr2:61454895..62574071 [NCBI36]
Chr2:2p15
likely pathogenic
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1 copy number loss See cases [RCV000511169] Chr2:61701437..65731084 [GRCh37]
Chr2:2p15-14
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p16.1-15(chr2:60308869-62368583) copy number gain Global developmental delay [RCV000626531] Chr2:60308869..62368583 [GRCh37]
Chr2:2p16.1-15
likely pathogenic
GRCh37/hg19 2p15(chr2:61576332-62775261) copy number gain Macrocephalus [RCV000626530] Chr2:61576332..62775261 [GRCh37]
Chr2:2p15
uncertain significance
GRCh37/hg19 2p15(chr2:62302506-62602053)x3 copy number gain not provided [RCV000682055] Chr2:62302506..62602053 [GRCh37]
Chr2:2p15
likely benign
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele duplication Schizophrenia [RCV000754267] Chr2:61372285..62496451 [GRCh38]
Chr2:2p15
likely pathogenic
GRCh37/hg19 2p15(chr2:62195677-62228180)x1 copy number loss not provided [RCV000848919] Chr2:62195677..62228180 [GRCh37]
Chr2:2p15
uncertain significance
GRCh37/hg19 2p15(chr2:61968083-62238312)x1 copy number loss not provided [RCV000847794] Chr2:61968083..62238312 [GRCh37]
Chr2:2p15
uncertain significance
GRCh37/hg19 2p15(chr2:61523951-62262243)x3 copy number gain not provided [RCV001005281] Chr2:61523951..62262243 [GRCh37]
Chr2:2p15
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23024 AgrOrtholog
COSMIC COMMD1 COSMIC
Ensembl Genes ENSG00000173163 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000308236 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398727 UniProtKB/TrEMBL
  ENSP00000401236 UniProtKB/TrEMBL
  ENSP00000410050 UniProtKB/TrEMBL
  ENSP00000413207 UniProtKB/TrEMBL
  ENSP00000416997 UniProtKB/TrEMBL
Ensembl Transcript ENST00000311832 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427417 UniProtKB/TrEMBL
  ENST00000444166 UniProtKB/TrEMBL
  ENST00000445644 UniProtKB/TrEMBL
  ENST00000455659 UniProtKB/TrEMBL
  ENST00000458337 UniProtKB/TrEMBL
GTEx ENSG00000173163 GTEx
HGNC ID HGNC:23024 ENTREZGENE
Human Proteome Map COMMD1 Human Proteome Map
InterPro COMM UniProtKB/Swiss-Prot
  COMMD1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Murr1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:150684 UniProtKB/Swiss-Prot
NCBI Gene 150684 ENTREZGENE
OMIM 607238 OMIM
PANTHER PTHR21199 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COMM_domain UniProtKB/Swiss-Prot
  COMMD1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134891368 PharmGKB
PROSITE COMM UniProtKB/Swiss-Prot
UniProt A0A2Z4SWX4_HUMAN UniProtKB/TrEMBL
  COMD1_HUMAN UniProtKB/Swiss-Prot
  E9PE85_HUMAN UniProtKB/TrEMBL
  H0Y7J4_HUMAN UniProtKB/TrEMBL
  H7C169_HUMAN UniProtKB/TrEMBL
  H7C377_HUMAN UniProtKB/TrEMBL
  Q8N668 ENTREZGENE
UniProt Secondary B4DFQ4 UniProtKB/Swiss-Prot
  Q96GS0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 COMMD1  copper metabolism domain containing 1    copper metabolism (Murr1) domain containing 1  Symbol and/or name change 5135510 APPROVED