Aliases for COPS7A Gene
Aliases for COPS7A Gene
External Ids for COPS7A Gene
- HGNC: 16758
- Entrez Gene: 50813
- Ensembl: ENSG00000111652
- OMIM: 616009
- UniProtKB: Q9UBW8
Previous GeneCards Identifiers for COPS7A Gene
- GC12M006747
- GC12M006872
- GC12P006712
- GC12P006703
- GC12P006833
Summaries for COPS7A Gene
-
This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]
GeneCards Summary for COPS7A Gene
COPS7A (COP9 Signalosome Subunit 7A) is a Protein Coding gene. Diseases associated with COPS7A include Xeroderma Pigmentosum, Complementation Group E. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Clathrin-mediated endocytosis. An important paralog of this gene is COPS7B.
UniProtKB/Swiss-Prot for COPS7A Gene
-
Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively.
Additional gene information for COPS7A Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COPS7A Gene
Genomics for COPS7A Gene
GeneHancer (GH) Regulatory Elements for COPS7A Gene
Promoters and enhancers for COPS7A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around COPS7A on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the COPS7A gene promoter:
-
- FOXO4
- deltaCREB
- CREB
- ATF-2
- ATF6
- Max1
- c-Myc
- FOXJ2 (long isoform)
- FOXJ2
- RORalpha1
Regulatory Element Products
Genomic Locations for COPS7A Gene
Genomic Locations for COPS7A Gene
- chr12:6,723,741-6,731,875
- (GRCh38/hg38)
- Size:
- 8,135 bases
- Orientation:
- Plus strand
- chr12:6,832,907-6,841,041
- (GRCh37/hg19)
- Size:
- 8,135 bases
- Orientation:
- Plus strand
Genomic View for COPS7A Gene
Genes around COPS7A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.31 by Entrez Gene
- 12p13.31 by HGNC
- 12p13.31 by Ensembl
COPS7A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COPS7A Gene
Proteins for COPS7A Gene
-
Protein details for COPS7A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UBW8-CSN7A_HUMAN
- Recommended name:
- COP9 signalosome complex subunit 7a
- Protein Accession:
- Q9UBW8
- A8K9A6
- Q9NVX3
- Q9UJW4
Protein attributes for COPS7A Gene
- Size:
- 275 amino acids
- Molecular mass:
- 30277 Da
- Quaternary structure:
-
- Component of the CSN complex, composed of COPS1/GPS1, COPS2, COPS3, COPS4, COPS5, COPS6, COPS7 (COPS7A or COPS7B), COPS8 and COPS9 isoform 1 (PubMed:11337588, PubMed:18850735, PubMed:26456823). In the complex, it probably interacts directly with COPS1, COPS2, COPS4, COPS5, COPS6 and COPS8. Interacts with PMF1 (PubMed:12020345). Interacts with the translation initiation factor EIF3S6 (PubMed:12220626). Interacts with CK2 and PKD (PubMed:12628923). Interacts directly with ID3 (By similarity).
Protein Expression for COPS7A Gene
Post-translational modifications for COPS7A Gene
- Phosphorylated by CK2 and PKD kinases.
- Ubiquitination at Lys221
- Modification sites at PhosphoSitePlus
Other Protein References for COPS7A Gene
- ENSEMBL proteins:
-
- ENSP00000446039
- ENSP00000442613
- ENSP00000438352
- ENSP00000387787
- ENSP00000441852
- ENSP00000229251
- ENSP00000439547
- ENSP00000439949
- ENSP00000440683
- ENSP00000439158
- ENSP00000445300
- ENSP00000444807
- ENSP00000440020
- ENSP00000443628
- ENSP00000440972
- ENSP00000438571
- ENSP00000473363
- ENSP00000438115
- ENSP00000487362
- ENSP00000438363
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for COPS7A
- Novus Biologicals Antibodies for COPS7A
-
Abcam antibodies for COPS7A
- Invitrogen Antibodies for COPS7A (AFLGC-COPS7A)
- antibodies-online: Search results for 58 available COPS7A Antibodies ranked by validation data
- Compare Top COPS7A Antibodies
-
Recommended
- 17 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 39 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 14 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 17 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 39 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 14 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- GeneTex COPS7A Antibody for COPS7A
-
Boster Bio Antibodies for COPS7A
-
Santa Cruz Biotechnology (SCBT) Antibodies for COPS7A
Protein Products
-
OriGene Purified Proteins for COPS7A
- Search Origene for MassSpec and Protein Over-expression Lysates for COPS7A
- Origene Custom Protein Services for COPS7A
- Sino Biological Recombinant Proteins for COPS7A
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for COPS7A
- Search GeneTex for Proteins for COPS7A
-
Abcam proteins for COPS7A
Assay Products
No data available for DME Specific Peptides for COPS7A Gene
Domains & Families for COPS7A Gene
Gene Families for COPS7A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for COPS7A Gene
Graphical View of Domain Structure for InterPro Entry
Q9UBW8- Family:
-
- Belongs to the CSN7/EIF3M family. CSN7 subfamily.
Function for COPS7A Gene
Molecular function for COPS7A Gene
- UniProtKB/Swiss-Prot Function:
- Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 20399188 |
Phenotypes for COPS7A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COPS7A
-
CRISPR Products
-
OriGene CRISPR knockouts for COPS7A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COPS7A
- genomics-online: gRNA clones - Search results for 157 available COPS7A gene related products
- Overview of 157 available COPS7A gene related products
- Applied Biological Materials CRISPR for COPS7A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COPS7A
- GenScript: Design CRISPR guide RNA sequences for COPS7A
miRNA for COPS7A Gene
- miRTarBase miRNAs that target COPS7A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COPS7A
- Browse OriGene Inhibitory RNA Products For COPS7A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPS7A
- genomics-online: shRNA clones - Search results for 157 available COPS7A gene related products
- Overview of 157 available COPS7A gene related products
Clone Products
-
OriGene ORF clones in human for COPS7A
- RC203965
- RC203965L1
- RC203965L2
- RC203965L3
- RC203965L4
- RC228792
- RC228792L1
- RC228792L2
- RC228792L3
- RC228792L4
- RC228793
- RC228793L1
- RC228793L2
- RC228793L3
- RC228793L4
- RC228794
- RC228794L1
- RC228794L2
- RC228794L3
- RC228794L4
- RG203965
- RG228792
- RG228793
- RG228794
- RC203965L1V
- RC203965L2V
- RC203965L3V
- RC203965L4V
- RC228792L1V
- RC228792L2V
- RC228792L3V
- RC228792L4V
- RC228793L1V
- RC228793L2V
- RC228793L3V
- RC228793L4V
- RC228794L1V
- RC228794L2V
- RC228794L3V
- RC228794L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for COPS7A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COPS7A
- Applied Biological Materials Clones for COPS7A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for COPS7A
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COPS7A Gene
Localization for COPS7A Gene
Subcellular locations from UniProtKB/Swiss-Prot for COPS7A Gene
- Cytoplasm. Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 2 |
| peroxisome | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA,TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0008180 | COP9 signalosome | IEA,IDA | 18850735 |
Pathways & Interactions for COPS7A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
| 2 | Clathrin-mediated endocytosis | ||
| 3 | Vesicle-mediated transport | ||
| 4 | DNA Double-Strand Break Repair |
.53
|
|
Pathways by source for COPS7A Gene
10 Reactome pathways for COPS7A Gene
Interacting Proteins for COPS7A Gene
Selected Interacting proteins:
ENSP00000229251
Q9UBW8-CSN7A_HUMAN
for COPS7A Gene via
STRING
MINT
UniProtKB
IID
GPS-Prot Interaction Network for COPS7A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000338 | protein deneddylation | IDA | 19141280 |
| GO:0000715 | nucleotide-excision repair, DNA damage recognition | TAS | -- |
| GO:0006283 | transcription-coupled nucleotide-excision repair | TAS | -- |
| GO:0043687 | post-translational protein modification | TAS | -- |
No data available for SIGNOR curated interactions for COPS7A Gene
Transcripts for COPS7A Gene
mRNA/cDNA for COPS7A Gene
- (5) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (29) Selected AceView cDNA sequences:
- (22) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000543155 2127 bps (uc001qqj.4)
- ENST00000455113 1718 bps (uc058kjo.1)
- ENST00000542150 658 bps (uc058kjp.1)
- ENST00000229251 1721 bps (uc001qqh.4)
- ENST00000539735 1832 bps (uc001qqi.4)
Unigene Clusters for COPS7A Gene
- COP9 signalosome subunit 7A:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for COPS7A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COPS7A
- genomics-online: gRNA clones - Search results for 157 available COPS7A gene related products
- Overview of 157 available COPS7A gene related products
- Applied Biological Materials CRISPR for COPS7A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COPS7A
- GenScript: Design CRISPR guide RNA sequences for COPS7A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COPS7A
- Browse OriGene Inhibitory RNA Products For COPS7A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPS7A
- genomics-online: shRNA clones - Search results for 157 available COPS7A gene related products
- Overview of 157 available COPS7A gene related products
Clone Products
-
OriGene ORF clones in human for COPS7A
- RC203965
- RC203965L1
- RC203965L2
- RC203965L3
- RC203965L4
- RC228792
- RC228792L1
- RC228792L2
- RC228792L3
- RC228792L4
- RC228793
- RC228793L1
- RC228793L2
- RC228793L3
- RC228793L4
- RC228794
- RC228794L1
- RC228794L2
- RC228794L3
- RC228794L4
- RG203965
- RG228792
- RG228793
- RG228794
- RC203965L1V
- RC203965L2V
- RC203965L3V
- RC203965L4V
- RC228792L1V
- RC228792L2V
- RC228792L3V
- RC228792L4V
- RC228793L1V
- RC228793L2V
- RC228793L3V
- RC228793L4V
- RC228794L1V
- RC228794L2V
- RC228794L3V
- RC228794L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for COPS7A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COPS7A
- Applied Biological Materials Clones for COPS7A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12 | ^ | 13a | · | 13b | · | 13c | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: |
| ExUns: | 13d | · | 13e | ^ | 14a | · | 14b |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | - | - | |||||
| SP4: | |||||||
| SP5: | |||||||
| SP6: | |||||||
| SP7: | |||||||
| SP8: | |||||||
| SP9: | |||||||
| SP10: | |||||||
| SP11: | |||||||
| SP12: | |||||||
| SP13: | |||||||
| SP14: | |||||||
| SP15: | |||||||
| SP16: | |||||||
| SP17: | |||||||
| SP18: | |||||||
| SP19: |
Expression for COPS7A Gene
This gene is overexpressed in Peripheral blood mononuclear cells (9.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COPS7A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of COPS7A Gene:
COPS7ASOURCE GeneReport for Unigene cluster for COPS7A Gene:
Hs.530823mRNA Expression by UniProt/SwissProt for COPS7A Gene:
Q9UBW8-CSN7A_HUMAN
Tissue specificity:
Widely expressed. Expressed at high level in brain, heart and skeletal muscle.
Evidence on tissue expression from TISSUES for COPS7A Gene
- Skin(4.8)
- Nervous system(4.4)
- Liver(4.3)
- Lung(2.9)
- Muscle(2.2)
Primer Products
-
OriGene qPCR primer pairs for COPS7A
-
OriGene qPCR primer pairs and template standards for COPS7A
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COPS7A Gene
Orthologs for COPS7A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COPS7A 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | COPS7A 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COPS7A 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cops7a 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Cops7a 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | COPS7A 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | COPS7A 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COPS7A 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | COPS7A 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | cops7a 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CSN7b 35 |
|
|
|
| CSN7 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9499 34 |
|
OneToMany |
- Species where no ortholog for COPS7A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for COPS7A Gene
- ENSEMBL:
- Gene Tree for COPS7A (if available)
- TreeFam:
- Gene Tree for COPS7A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for COPS7A: view image
Paralogs for COPS7A Gene
Variants for COPS7A Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000966919 | -- | 6,726,419(+) | T/C | intron_variant | |
| rs1001415163 | -- | 6,730,757(+) | T/C/G | coding_sequence_variant, missense_variant | |
| rs1001808319 | -- | 6,727,061(+) | G/C | intron_variant | |
| rs1002867490 | -- | 6,724,334(+) | G/C | 5_prime_UTR_variant, intron_variant | |
| rs1002897111 | -- | 6,724,159(+) | G/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant |
Residual Variation Intolerance Score:
41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.65;
13.91% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for COPS7A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- COPS7A
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COPS7A Gene
Disorders for COPS7A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| xeroderma pigmentosum, complementation group e |
|
|
Search COPS7A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for COPS7A
No data available for UniProtKB/Swiss-Prot and Genatlas for COPS7A Gene
Publications for COPS7A Gene
- Characterization of the human COP9 signalosome complex using affinity purification and mass spectrometry. (PMID: 18850735) Fang L … Huang L (Journal of proteome research 2008) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Protein kinase CK2 and protein kinase D are associated with the COP9 signalosome. (PMID: 12628923) Uhle S … Dubiel W (The EMBO journal 2003) 3 4 58
- The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. (PMID: 12732143) Groisman R … Nakatani Y (Cell 2003) 3 4 58
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