Evidence Details for C22orf40
Basic Information Top
| Gene Symbol: | C22orf40 ( - ) |
|---|---|
| Gene Full Name: | chromosome 22 open reading frame 40 |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:150383; OMIM: NA; Uniprot ID:CV040_HUMAN; ENSEMBL ID: ENSG00000205643; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C22orf40|150383|nucleotide
ATGGCGTCCCATGTAGAGTGCCGTCCTCTGGGAGTGTTTGAGTGTGAACTCTGTACCTTGACAGCTCCGTACAGCTATGTGGGACAGAAGCCCCCCAACACCCAG
TCGATGGTCCTCCTGGAGGAAAGCTATGTCATGAAGGATCCCTTCACCTCCGACAAGGACAGATTCCTGGTCCTCGGCTCGTGCTGCAGTTTGTGCAGCAGGCTG
GTGTGTGTGGGCCCGGAATGCAGTTTATTCTACTCCAAGAGATTCTGCCTCCCTTGTGTCCGGGAGAACATCAATGCTTTTCCTCAGGAAATTCGGCAAGACTTG
GAGAAAAGGAAAGCTCCATCAAAGAGGACCCCCAGCCAGCCCGGTTCTCGGACGTGA
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ATGGCGTCCCATGTAGAGTGCCGTCCTCTGGGAGTGTTTGAGTGTGAACTCTGTACCTTGACAGCTCCGTACAGCTATGTGGGACAGAAGCCCCCCAACACCCAG
TCGATGGTCCTCCTGGAGGAAAGCTATGTCATGAAGGATCCCTTCACCTCCGACAAGGACAGATTCCTGGTCCTCGGCTCGTGCTGCAGTTTGTGCAGCAGGCTG
GTGTGTGTGGGCCCGGAATGCAGTTTATTCTACTCCAAGAGATTCTGCCTCCCTTGTGTCCGGGAGAACATCAATGCTTTTCCTCAGGAAATTCGGCAAGACTTG
GAGAAAAGGAAAGCTCCATCAAAGAGGACCCCCAGCCAGCCCGGTTCTCGGACGTGA
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>C22orf40|150383|protein
MASHVECRPLGVFECELCTLTAPYSYVGQKPPNTQSMVLLEESYVMKDPFTSDKDRFLVLGSCCSLCSRLVCVGPECSLFYSKRFCLPCVRENINAFPQEIRQDL
EKRKAPSKRTPSQPGSRT
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MASHVECRPLGVFECELCTLTAPYSYVGQKPPNTQSMVLLEESYVMKDPFTSDKDRFLVLGSCCSLCSRLVCVGPECSLFYSKRFCLPCVRENINAFPQEIRQDL
EKRKAPSKRTPSQPGSRT
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Evidence summary Top
Click 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) | 2 (6) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Prasad, 2000 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
| Goizet, 2000 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | ![]() | ![]() | autism | - | - | - | - | 278 | - | 278 |
| Gregory, 2009 | USA | aCGH | ![]() | ![]() | ASD | - | - | - | - | 119 | 54 | 173 |
| Bucan, 2009 | USA | SNP microarray | ![]() | ![]() | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top



