Evidence Details for COQ7
Basic Information Top
| Gene Symbol: | COQ7 ( CAT5,CLK-1,CLK1 ) |
|---|---|
| Gene Full Name: | coenzyme Q7 homolog, ubiquinone (yeast) |
| Band: | 16p12.3 |
| Quick Links | Entrez ID:10229; OMIM: 601683; Uniprot ID:COQ7_HUMAN; ENSEMBL ID: ENSG00000167186; HGNC ID: 2244 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>COQ7|10229|nucleotide
ATGACTTTAGACAATATCAGTCGGGCAGCTGTGGATCGAATAATCCGGGTGGATCATGCAGGCGAATATGGAGCAAACCGCATCTATGCCGGGCAGATGGCTGTC
CTGGGTCGGACCAGCGTCGGGCCAGTCATTCAGAAAATGTGGGATCAAGAAAAGGACCATTTGAAAAAGTTCAATGAGTTGATGGTTACGTTCAGGGTCCGGCCA
ACAGTTCTGATGCCCTTGTGGAACGTGCTGGGGTTTGCACTGGGGGCGGGGACCGCCTTGCTCGGGAAGGAAGGTGCCATGGCCTGCACCGTGGCGGTGGAAGAG
AGCATAGCACATCACTACAACAACCAGATCAGGACGCTGATGGAGGAGGACCCTGAAAAATACGAGGAACTTCTTCAGCTGATAAAGAAATTTCGGGATGAAGAG
CTTGAGCACCATGACATAGGCCTCGACCATGATGCAGAATTGGCTCCAGCCTATGCCGTCCTGAAGAGCATTATCCAGGCCGGATGCAGAGTGGCGATATATTTA
TCAGAAAGATTATAA
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ATGACTTTAGACAATATCAGTCGGGCAGCTGTGGATCGAATAATCCGGGTGGATCATGCAGGCGAATATGGAGCAAACCGCATCTATGCCGGGCAGATGGCTGTC
CTGGGTCGGACCAGCGTCGGGCCAGTCATTCAGAAAATGTGGGATCAAGAAAAGGACCATTTGAAAAAGTTCAATGAGTTGATGGTTACGTTCAGGGTCCGGCCA
ACAGTTCTGATGCCCTTGTGGAACGTGCTGGGGTTTGCACTGGGGGCGGGGACCGCCTTGCTCGGGAAGGAAGGTGCCATGGCCTGCACCGTGGCGGTGGAAGAG
AGCATAGCACATCACTACAACAACCAGATCAGGACGCTGATGGAGGAGGACCCTGAAAAATACGAGGAACTTCTTCAGCTGATAAAGAAATTTCGGGATGAAGAG
CTTGAGCACCATGACATAGGCCTCGACCATGATGCAGAATTGGCTCCAGCCTATGCCGTCCTGAAGAGCATTATCCAGGCCGGATGCAGAGTGGCGATATATTTA
TCAGAAAGATTATAA
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>COQ7|10229|protein
MTLDNISRAAVDRIIRVDHAGEYGANRIYAGQMAVLGRTSVGPVIQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGFALGAGTALLGKEGAMACTVAVEE
SIAHHYNNQIRTLMEEDPEKYEELLQLIKKFRDEELEHHDIGLDHDAELAPAYAVLKSIIQAGCRVAIYLSERL
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MTLDNISRAAVDRIIRVDHAGEYGANRIYAGQMAVLGRTSVGPVIQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGFALGAGTALLGKEGAMACTVAVEE
SIAHHYNNQIRTLMEEDPEKYEELLQLIKKFRDEELEHHDIGLDHDAELAPAYAVLKSIIQAGCRVAIYLSERL
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| McCauley, 2005 | - | microsatellite-based genomic screen |  |  | autism | 158 | - | 158 | - | 333 | - | - |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Philippi, 2005_1 | AGRE | SNPlex, ABI 3730, the GeneMapper software(Applied Biosystems, Foster City) | 116 | - (-) | | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.