Evidence Details for SH3GL2
Basic Information Top
| Gene Symbol: | SH3GL2 ( CNSA2,EEN-B1,FLJ20276,FLJ25015,SH3D2A,SH3P4 ) |
|---|---|
| Gene Full Name: | SH3-domain GRB2-like 2 |
| Band: | 9p22.2 |
| Quick Links | Entrez ID:6456; OMIM: 604465; Uniprot ID:SH3G2_HUMAN; ENSEMBL ID: ENSG00000107295; HGNC ID: 10831 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SH3GL2|6456|nucleotide
ATGTCGGTGGCCGGCCTCAAGAAGCAGTTCCATAAAGCCACTCAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAG
ATGGAAAGGAAAGTGGATGTCACCAGCAGGGCTGTGATGGAAATAATGACTAAAACAATTGAATACCTTCAACCCAATCCAGCTTCCAGAGCTAAGCTCAGCATG
ATCAACACCATGTCAAAAATCCGTGGCCAGGAGAAGGGGCCAGGCTATCCTCAGGCAGAGGCGCTGCTGGCAGAGGCCATGCTCAAATTTGGAAGAGAGCTTGGA
GATGATTGCAACTTTGGCCCAGCACTTGGTGAGGTCGGGGAGGCCATGCGGGAACTGTCGGAGGTCAAAGACTCTTTGGACATAGAAGTGAAGCAGAACTTCATT
GACCCTCTTCAGAATCTTCATGACAAAGATCTTAGGGAAATTCAACATCATCTAAAGAAGTTGGAGGGTCGACGCCTGGATTTTGATTATAAGAAGAAACGACAA
GGCAAGATTCCGGATGAAGAGCTTCGTCAAGCTCTAGAGAAATTTGATGAGTCTAAGGAAATTGCTGAGTCAAGCATGTTCAATCTCTTGGAGATGGATATTGAA
CAAGTGAGCCAGCTCTCTGCACTTGTGCAAGCTCAGCTGGAGTACCACAAGCAGGCAGTCCAGATCCTGCAGCAAGTCACGGTCAGACTGGAAGAAAGAATAAGA
CAGGCTTCATCTCAGCCTAGAAGGGAATATCAACCTAAACCACGAATGAGCCTGGAGTTTCCAACTGGAGACAGTACTCAGCCCAATGGGGGTCTCTCCCACACA
GGCACTCCCAAACCTTCAGGTGTCCAAATGGATCAGCCCTGCTGCCGAGCTCTGTACGACTTTGAACCTGAAAATGAAGGGGAGTTGGGATTTAAAGAGGGCGAT
ATCATCACACTCACTAACCAAATTGATGAGAACTGGTATGAGGGGATGCTGCATGGCCATTCAGGCTTCTTCCCCATCAATTATGTGGAAATTCTGGTTGCCCTG
CCCCATTAG
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ATGTCGGTGGCCGGCCTCAAGAAGCAGTTCCATAAAGCCACTCAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAG
ATGGAAAGGAAAGTGGATGTCACCAGCAGGGCTGTGATGGAAATAATGACTAAAACAATTGAATACCTTCAACCCAATCCAGCTTCCAGAGCTAAGCTCAGCATG
ATCAACACCATGTCAAAAATCCGTGGCCAGGAGAAGGGGCCAGGCTATCCTCAGGCAGAGGCGCTGCTGGCAGAGGCCATGCTCAAATTTGGAAGAGAGCTTGGA
GATGATTGCAACTTTGGCCCAGCACTTGGTGAGGTCGGGGAGGCCATGCGGGAACTGTCGGAGGTCAAAGACTCTTTGGACATAGAAGTGAAGCAGAACTTCATT
GACCCTCTTCAGAATCTTCATGACAAAGATCTTAGGGAAATTCAACATCATCTAAAGAAGTTGGAGGGTCGACGCCTGGATTTTGATTATAAGAAGAAACGACAA
GGCAAGATTCCGGATGAAGAGCTTCGTCAAGCTCTAGAGAAATTTGATGAGTCTAAGGAAATTGCTGAGTCAAGCATGTTCAATCTCTTGGAGATGGATATTGAA
CAAGTGAGCCAGCTCTCTGCACTTGTGCAAGCTCAGCTGGAGTACCACAAGCAGGCAGTCCAGATCCTGCAGCAAGTCACGGTCAGACTGGAAGAAAGAATAAGA
CAGGCTTCATCTCAGCCTAGAAGGGAATATCAACCTAAACCACGAATGAGCCTGGAGTTTCCAACTGGAGACAGTACTCAGCCCAATGGGGGTCTCTCCCACACA
GGCACTCCCAAACCTTCAGGTGTCCAAATGGATCAGCCCTGCTGCCGAGCTCTGTACGACTTTGAACCTGAAAATGAAGGGGAGTTGGGATTTAAAGAGGGCGAT
ATCATCACACTCACTAACCAAATTGATGAGAACTGGTATGAGGGGATGCTGCATGGCCATTCAGGCTTCTTCCCCATCAATTATGTGGAAATTCTGGTTGCCCTG
CCCCATTAG
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>SH3GL2|6456|protein
MSVAGLKKQFHKATQKVSEKVGGAEGTKLDDDFKEMERKVDVTSRAVMEIMTKTIEYLQPNPASRAKLSMINTMSKIRGQEKGPGYPQAEALLAEAMLKFGRELG
DDCNFGPALGEVGEAMRELSEVKDSLDIEVKQNFIDPLQNLHDKDLREIQHHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFDESKEIAESSMFNLLEMDIE
QVSQLSALVQAQLEYHKQAVQILQQVTVRLEERIRQASSQPRREYQPKPRMSLEFPTGDSTQPNGGLSHTGTPKPSGVQMDQPCCRALYDFEPENEGELGFKEGD
IITLTNQIDENWYEGMLHGHSGFFPINYVEILVALPH
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MSVAGLKKQFHKATQKVSEKVGGAEGTKLDDDFKEMERKVDVTSRAVMEIMTKTIEYLQPNPASRAKLSMINTMSKIRGQEKGPGYPQAEALLAEAMLKFGRELG
DDCNFGPALGEVGEAMRELSEVKDSLDIEVKQNFIDPLQNLHDKDLREIQHHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFDESKEIAESSMFNLLEMDIE
QVSQLSALVQAQLEYHKQAVQILQQVTVRLEERIRQASSQPRREYQPKPRMSLEFPTGDSTQPNGGLSHTGTPKPSGVQMDQPCCRALYDFEPENEGELGFKEGD
IITLTNQIDENWYEGMLHGHSGFFPINYVEILVALPH
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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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top