Evidence Details for SH3GL1
Basic Information Top
| Gene Symbol: | SH3GL1 ( CNSA1,EEN,MGC111371,SH3D2B,SH3P8 ) |
|---|---|
| Gene Full Name: | SH3-domain GRB2-like 1 |
| Band: | 19p13.3 |
| Quick Links | Entrez ID:6455; OMIM: 601768; Uniprot ID:SH3G1_HUMAN; ENSEMBL ID: ENSG00000141985; HGNC ID: 10830 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SH3GL1|6455|nucleotide
ATGTCGGTGGCGGGGCTGAAGAAGCAGTTCTACAAGGCGAGCCAGCTGGTCAGTGAGAAGGTCGGAGGGGCCGAGGGGACCAAGCTGGATGATGACTTCAAAGAG
ATGGAGAAGAAGGTGGATGTCACCAGCAAGGCGGTGACAGAAGTGCTGGCCAGGACCATCGAGTACCTGCAGCCCAACCCAGGTGACGCATTGCTGGATGCCGGC
GAGTCCATGAAGCGCCTGGCAGAGGTGAAGGACTCCCTGGACATCGAGGTCAAGCAGAACTTCATTGACCCCCTCCAGAACCTGTGCGAGAAAGACCTGAAGGAG
ATCCAGCACCACCTGAAGAAACTGGAGGGCCGCCGCCTGGACTTTGACTACAAGAAGAAGCGGCAGGGCAAGATCCCCGATGAGGAGCTACGCCAGGCGCTGGAG
AAGTTCGAGGAGTCCAAGGAGGTGGCAGAAACCAGCATGCACAACCTCCTGGAGACTGACATCGAGCAGGTGAGTCAGCTCTCGGCCCTGGTGGATGCACAGCTG
GACTACCACCGGCAGGCCGTGCAGATCCTGGACGAGCTGGCGGAGAAGCTCAAGCGCAGGATGCGGGAAGCTTCCTCACGCCCTAAGCGGGAGTATAAGCCCAAG
CCCCGGGAGCCCTTTGACCTTGGAGAGCCTGAGCAGTCCAACGGGGGCTTCCCCTGCACCACAGCCCCCAAGATCGCAGCTTCATCGTCTTTCCGATCTTCCGAC
AAGCCCATCCGGACCCCTAGCCGGAGCATGCCGCCCCTGGACCAGCCGAGCTGCAAGGCGCTGTACGACTTCGAGCCCGAGAACGACGGGGAGCTGGGCTTCCAT
GAGGGCGACGTCATCACGCTGACCAACCAGATCGATGAGAACTGGTACGAGGGCATGCTGGACGGCCAGTCGGGCTTCTTCCCGCTCAGCTACGTGGAGGTGCTT
GTGCCCCTGCCGCAGTGA
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ATGTCGGTGGCGGGGCTGAAGAAGCAGTTCTACAAGGCGAGCCAGCTGGTCAGTGAGAAGGTCGGAGGGGCCGAGGGGACCAAGCTGGATGATGACTTCAAAGAG
ATGGAGAAGAAGGTGGATGTCACCAGCAAGGCGGTGACAGAAGTGCTGGCCAGGACCATCGAGTACCTGCAGCCCAACCCAGGTGACGCATTGCTGGATGCCGGC
GAGTCCATGAAGCGCCTGGCAGAGGTGAAGGACTCCCTGGACATCGAGGTCAAGCAGAACTTCATTGACCCCCTCCAGAACCTGTGCGAGAAAGACCTGAAGGAG
ATCCAGCACCACCTGAAGAAACTGGAGGGCCGCCGCCTGGACTTTGACTACAAGAAGAAGCGGCAGGGCAAGATCCCCGATGAGGAGCTACGCCAGGCGCTGGAG
AAGTTCGAGGAGTCCAAGGAGGTGGCAGAAACCAGCATGCACAACCTCCTGGAGACTGACATCGAGCAGGTGAGTCAGCTCTCGGCCCTGGTGGATGCACAGCTG
GACTACCACCGGCAGGCCGTGCAGATCCTGGACGAGCTGGCGGAGAAGCTCAAGCGCAGGATGCGGGAAGCTTCCTCACGCCCTAAGCGGGAGTATAAGCCCAAG
CCCCGGGAGCCCTTTGACCTTGGAGAGCCTGAGCAGTCCAACGGGGGCTTCCCCTGCACCACAGCCCCCAAGATCGCAGCTTCATCGTCTTTCCGATCTTCCGAC
AAGCCCATCCGGACCCCTAGCCGGAGCATGCCGCCCCTGGACCAGCCGAGCTGCAAGGCGCTGTACGACTTCGAGCCCGAGAACGACGGGGAGCTGGGCTTCCAT
GAGGGCGACGTCATCACGCTGACCAACCAGATCGATGAGAACTGGTACGAGGGCATGCTGGACGGCCAGTCGGGCTTCTTCCCGCTCAGCTACGTGGAGGTGCTT
GTGCCCCTGCCGCAGTGA
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>SH3GL1|6455|protein
MSVAGLKKQFYKASQLVSEKVGGAEGTKLDDDFKEMEKKVDVTSKAVTEVLARTIEYLQPNPGDALLDAGESMKRLAEVKDSLDIEVKQNFIDPLQNLCEKDLKE
IQHHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFEESKEVAETSMHNLLETDIEQVSQLSALVDAQLDYHRQAVQILDELAEKLKRRMREASSRPKREYKPK
PREPFDLGEPEQSNGGFPCTTAPKIAASSSFRSSDKPIRTPSRSMPPLDQPSCKALYDFEPENDGELGFHEGDVITLTNQIDENWYEGMLDGQSGFFPLSYVEVL
VPLPQ
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MSVAGLKKQFYKASQLVSEKVGGAEGTKLDDDFKEMEKKVDVTSKAVTEVLARTIEYLQPNPGDALLDAGESMKRLAEVKDSLDIEVKQNFIDPLQNLCEKDLKE
IQHHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFEESKEVAETSMHNLLETDIEQVSQLSALVDAQLDYHRQAVQILDELAEKLKRRMREASSRPKREYKPK
PREPFDLGEPEQSNGGFPCTTAPKIAASSSFRSSDKPIRTPSRSMPPLDQPSCKALYDFEPENDGELGFHEGDVITLTNQIDENWYEGMLDGQSGFFPLSYVEVL
VPLPQ
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
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