Evidence Details for STOM
Basic Information Top
| Gene Symbol: | STOM ( BND7,EPB7,EPB72 ) |
|---|---|
| Gene Full Name: | stomatin |
| Band: | 9q33.2 |
| Quick Links | Entrez ID:2040; OMIM: 133090; Uniprot ID:STOM_HUMAN; ENSEMBL ID: ENSG00000148175; HGNC ID: 3383 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>STOM|2040|nucleotide
ATGGCCGAGAAGCGGCACACACGGGACTCCGAAGCCCAGCGGCTCCCCGACTCCTTCAAGGACAGCCCCAGTAAGGGCCTTGGACCTTGCGGATGGATTTTGGTG
GCGTTCTCATTCTTATTCACCGTTATAACTTTCCCAATCTCAATATGGATGTGCATAAAGATTATAAAAGAGTATGAAAGAGCCATCATCTTTAGATTGGGTCGC
ATTTTACAAGGAGGAGCCAAAGGACCTGGTTTGTTTTTTATTCTGCCATGCACTGACAGCTTCATCAAAGTGGACATGAGAACTATTTCATTTGATATTCCTCCT
CAGGAGATCCTCACAAAGGATTCAGTGACAATTAGCGTGGATGGTGTGGTCTATTACCGCGTTCAGAATGCAACCCTGGCTGTGGCAAATATCACCAACGCTGAC
TCAGCAACCCGTCTTTTGGCACAAACTACTCTGAGGAATGTTCTGGGCACCAAGAATCTTTCTCAGATCCTCTCTGACAGAGAAGAAATTGCACACAACATGCAG
TCTACTCTGGATGATGCCACTGATGCCTGGGGAATAAAGGTGGAGCGTGTGGAAATTAAGGATGTGAAACTACCTGTGCAGCTCCAGAGAGCTATGGCTGCAGAA
GCAGAAGCGTCCCGCGAGGCCCGCGCCAAGGTTATTGCAGCCGAAGGAGAAATGAATGCATCCAGGGCTCTGAAAGAAGCCTCCATGGTCATCACTGAATCTCCT
GCAGCCCTTCAGCTCCGATACCTGCAGACACTGACCACCATTGCTGCTGAGAAAAACTCAACAATTGTCTTCCCTCTGCCCATAGATATGCTGCAAGGAATCATA
GGGGCAAAACACAGCCATCTAGGCTAG
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ATGGCCGAGAAGCGGCACACACGGGACTCCGAAGCCCAGCGGCTCCCCGACTCCTTCAAGGACAGCCCCAGTAAGGGCCTTGGACCTTGCGGATGGATTTTGGTG
GCGTTCTCATTCTTATTCACCGTTATAACTTTCCCAATCTCAATATGGATGTGCATAAAGATTATAAAAGAGTATGAAAGAGCCATCATCTTTAGATTGGGTCGC
ATTTTACAAGGAGGAGCCAAAGGACCTGGTTTGTTTTTTATTCTGCCATGCACTGACAGCTTCATCAAAGTGGACATGAGAACTATTTCATTTGATATTCCTCCT
CAGGAGATCCTCACAAAGGATTCAGTGACAATTAGCGTGGATGGTGTGGTCTATTACCGCGTTCAGAATGCAACCCTGGCTGTGGCAAATATCACCAACGCTGAC
TCAGCAACCCGTCTTTTGGCACAAACTACTCTGAGGAATGTTCTGGGCACCAAGAATCTTTCTCAGATCCTCTCTGACAGAGAAGAAATTGCACACAACATGCAG
TCTACTCTGGATGATGCCACTGATGCCTGGGGAATAAAGGTGGAGCGTGTGGAAATTAAGGATGTGAAACTACCTGTGCAGCTCCAGAGAGCTATGGCTGCAGAA
GCAGAAGCGTCCCGCGAGGCCCGCGCCAAGGTTATTGCAGCCGAAGGAGAAATGAATGCATCCAGGGCTCTGAAAGAAGCCTCCATGGTCATCACTGAATCTCCT
GCAGCCCTTCAGCTCCGATACCTGCAGACACTGACCACCATTGCTGCTGAGAAAAACTCAACAATTGTCTTCCCTCTGCCCATAGATATGCTGCAAGGAATCATA
GGGGCAAAACACAGCCATCTAGGCTAG
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>STOM|2040|protein
MAEKRHTRDSEAQRLPDSFKDSPSKGLGPCGWILVAFSFLFTVITFPISIWMCIKIIKEYERAIIFRLGRILQGGAKGPGLFFILPCTDSFIKVDMRTISFDIPP
QEILTKDSVTISVDGVVYYRVQNATLAVANITNADSATRLLAQTTLRNVLGTKNLSQILSDREEIAHNMQSTLDDATDAWGIKVERVEIKDVKLPVQLQRAMAAE
AEASREARAKVIAAEGEMNASRALKEASMVITESPAALQLRYLQTLTTIAAEKNSTIVFPLPIDMLQGIIGAKHSHLG
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MAEKRHTRDSEAQRLPDSFKDSPSKGLGPCGWILVAFSFLFTVITFPISIWMCIKIIKEYERAIIFRLGRILQGGAKGPGLFFILPCTDSFIKVDMRTISFDIPP
QEILTKDSVTISVDGVVYYRVQNATLAVANITNADSATRLLAQTTLRNVLGTKNLSQILSDREEIAHNMQSTLDDATDAWGIKVERVEIKDVKLPVQLQRAMAAE
AEASREARAKVIAAEGEMNASRALKEASMVITESPAALQLRYLQTLTTIAAEKNSTIVFPLPIDMLQGIIGAKHSHLG
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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) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (3) |
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 | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top