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COA7 (Cytochrome C Oxidase Assembly Factor 7 (Putative)) is a Protein Coding gene. Diseases associated with COA7 include Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 and Axonal Neuropathy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 30885959 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IEA,IDA | -- |
GO:0005758 | mitochondrial intermembrane space | IEA,IDA | 30885959 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||
SP2: | - | - | |||||||||||||||||
SP3: | - | ||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SELRC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COA7 31 |
|
OneToOne | |
SELRC1 30 |
|
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Cow (Bos Taurus) |
Mammalia | COA7 31 |
|
OneToOne | |
SELRC1 30 |
|
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Mouse (Mus musculus) |
Mammalia | Selrc1 31 |
|
OneToOne | |
Coa7 30 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Selrc1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | COA7 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COA7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SELRC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COA7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | coa7 30 |
|
||
Str.15655 30 |
|
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.3290 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | coa7 30 |
|
||
selrc1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG13865 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | ZK20.4 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
717674 | Likely Benign: not provided | 52,692,831(-) | C/T | MISSENSE_VARIANT | |
739450 | Likely Benign: not provided | 52,688,086(-) | T/C | SYNONYMOUS_VARIANT | |
806136 | Likely Pathogenic: not provided | 52,687,842(-) | G/A | MISSENSE_VARIANT | |
806137 | Likely Pathogenic: not provided | 52,687,865(-) | A/ATATGACCCAGG | FRAMESHIFT_VARIANT | |
rs1197945739 | Pathogenic: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 52,692,726(-) | C/A | SPLICE_DONOR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758934 | CNV | loss | 17122850 |
nsv1001535 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |
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axonal neuropathy |
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neuronopathy, distal hereditary motor, type iib |
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inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 |
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neuropathy |
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