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 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) | 0 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (3) |
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 | ||||||
Gregory, 2009 | USA | aCGH | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Baron, 2006_1 | America | human EBV-transformed lymphoblastoid cell lines | 3 (33.33%) | - | autism | 3 (33.33%) |
1.32 | Up | 0.03 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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