Evidence Details for NDUFV3
Basic Information Top
| Gene Symbol: | NDUFV3 ( CI-10k,CI-9KD ) |
|---|---|
| Gene Full Name: | NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa |
| Band: | 21q22.3 |
| Quick Links | Entrez ID:4731; OMIM: 602184; Uniprot ID:NDUV3_HUMAN; ENSEMBL ID: ENSG00000160194; HGNC ID: 7719 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NDUFV3|4731|nucleotide
ATGGCTGCCCCGTGTTTGCTGCGGCAAGGACGAGCCGGGGCGCTGAAGACTATGCTCCAGGAAGCCCAGGTGTTTCGAGGACTTGCTTCTACGGTTTCTTTGTCT
GCGGAATCAGGGAAGAGTGAAAAGGGTCAGCCACAGAATTCCAAGAAGCAAAGTCCACCAAAAAAGCCAGCCCCAGTGCCTGCTGAGCCGTTTGACAACACTACC
TACAAGAACCTGCAGCATCATGACTACAGCACGTACACCTTCTTAGACCTCAACCTCGAACTCTCAAAATTCAGGATGCCTCAGCCCTCCTCAGGCCGGGAGTCA
CCTCGACACTGA
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ATGGCTGCCCCGTGTTTGCTGCGGCAAGGACGAGCCGGGGCGCTGAAGACTATGCTCCAGGAAGCCCAGGTGTTTCGAGGACTTGCTTCTACGGTTTCTTTGTCT
GCGGAATCAGGGAAGAGTGAAAAGGGTCAGCCACAGAATTCCAAGAAGCAAAGTCCACCAAAAAAGCCAGCCCCAGTGCCTGCTGAGCCGTTTGACAACACTACC
TACAAGAACCTGCAGCATCATGACTACAGCACGTACACCTTCTTAGACCTCAACCTCGAACTCTCAAAATTCAGGATGCCTCAGCCCTCCTCAGGCCGGGAGTCA
CCTCGACACTGA
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>NDUFV3|4731|protein
MAAPCLLRQGRAGALKTMLQEAQVFRGLASTVSLSAESGKSEKGQPQNSKKQSPPKKPAPVPAEPFDNTTYKNLQHHDYSTYTFLDLNLELSKFRMPQPSSGRES
PRH
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MAAPCLLRQGRAGALKTMLQEAQVFRGLASTVSLSAESGKSEKGQPQNSKKQSPPKKPAPVPAEPFDNTTYKNLQHHDYSTYTFLDLNLELSKFRMPQPSSGRES
PRH
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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 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (5) |
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 | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top