Evidence Details for UQCC
Basic Information Top
| Gene Symbol: | UQCC ( BFZB,C20orf44,CBP3,MGC104353,MGC141902 ) |
|---|---|
| Gene Full Name: | ubiquinol-cytochrome c reductase complex chaperone |
| Band: | 20q11.22 |
| Quick Links | Entrez ID:55245; OMIM: 611797; Uniprot ID:UQCC_HUMAN; ENSEMBL ID: ENSG00000101019; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>UQCC|55245|nucleotide
ATGGCGTTGCTGGTGCGAGTCCTTAGGAACCAGACTAGCATTTCTCAGTGGGTTCCAGTATGCAGCCGATTGATACCTGTGTCTCCTACCCAAGGACAGGGGGAC
AGGGCTCTGTCTCGCACTTCCCAGAAGATTAAGATTGCGGCCCTGCGCATGTATACTAGCTGTGTGGAGAAAACTGACTTCGAGGAATTCTTTCTAAGGTGTCAG
ATGCCTGATACATTCAATTCATGGTTTCTTATAACCCTACTCCACGTCTGGATGTGTCTAGTCCGAATGAAGCAGGAAGGCCGGAGTGGGAAGTACATGTGTCGT
ATCATAGTTCATTTTATGTGGGAGGATGTTCAGCAGCGCGGCAGAGTCATGGGGGTTAATCCCTATATCCTGAAGAAGAACATGATCCTCATGACAAATCATTTC
TATGCAGCGATCTTGGGATATGATGAGGGGATCCTTTCAGATGATCATGGGCTGGCCGCTGCCCTCTGGAGAACCTTCTTCAACCGGAAATGTGAAGACCCTCGA
CATCTTGAATTGCTGGTAGAGTATGTGAGGAAACAGATACAGTACCTGGACTCCATGAACGGGGAGGATCTGCTTCTGACAGGGGAGGTGAGCTGGCGCCCTCTA
GTGGAGAAGAATCCTCAGAGCATCCTGAAGCCCCATTCTCCGACTTACAACGACGAGGGACTTTGA
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ATGGCGTTGCTGGTGCGAGTCCTTAGGAACCAGACTAGCATTTCTCAGTGGGTTCCAGTATGCAGCCGATTGATACCTGTGTCTCCTACCCAAGGACAGGGGGAC
AGGGCTCTGTCTCGCACTTCCCAGAAGATTAAGATTGCGGCCCTGCGCATGTATACTAGCTGTGTGGAGAAAACTGACTTCGAGGAATTCTTTCTAAGGTGTCAG
ATGCCTGATACATTCAATTCATGGTTTCTTATAACCCTACTCCACGTCTGGATGTGTCTAGTCCGAATGAAGCAGGAAGGCCGGAGTGGGAAGTACATGTGTCGT
ATCATAGTTCATTTTATGTGGGAGGATGTTCAGCAGCGCGGCAGAGTCATGGGGGTTAATCCCTATATCCTGAAGAAGAACATGATCCTCATGACAAATCATTTC
TATGCAGCGATCTTGGGATATGATGAGGGGATCCTTTCAGATGATCATGGGCTGGCCGCTGCCCTCTGGAGAACCTTCTTCAACCGGAAATGTGAAGACCCTCGA
CATCTTGAATTGCTGGTAGAGTATGTGAGGAAACAGATACAGTACCTGGACTCCATGAACGGGGAGGATCTGCTTCTGACAGGGGAGGTGAGCTGGCGCCCTCTA
GTGGAGAAGAATCCTCAGAGCATCCTGAAGCCCCATTCTCCGACTTACAACGACGAGGGACTTTGA
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>UQCC|55245|protein
MALLVRVLRNQTSISQWVPVCSRLIPVSPTQGQGDRALSRTSQKIKIAALRMYTSCVEKTDFEEFFLRCQMPDTFNSWFLITLLHVWMCLVRMKQEGRSGKYMCR
IIVHFMWEDVQQRGRVMGVNPYILKKNMILMTNHFYAAILGYDEGILSDDHGLAAALWRTFFNRKCEDPRHLELLVEYVRKQIQYLDSMNGEDLLLTGEVSWRPL
VEKNPQSILKPHSPTYNDEGL
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MALLVRVLRNQTSISQWVPVCSRLIPVSPTQGQGDRALSRTSQKIKIAALRMYTSCVEKTDFEEFFLRCQMPDTFNSWFLITLLHVWMCLVRMKQEGRSGKYMCR
IIVHFMWEDVQQRGRVMGVNPYILKKNMILMTNHFYAAILGYDEGILSDDHGLAAALWRTFFNRKCEDPRHLELLVEYVRKQIQYLDSMNGEDLLLTGEVSWRPL
VEKNPQSILKPHSPTYNDEGL
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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 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top