Evidence Details for SGSM1
Basic Information Top
| Gene Symbol: | SGSM1 ( KIAA1941,MGC133298,RUTBC2 ) |
|---|---|
| Gene Full Name: | small G protein signaling modulator 1 |
| Band: | 22q11.23 |
| Quick Links | Entrez ID:129049; OMIM: 611417; Uniprot ID:SGSM1_HUMAN; ENSEMBL ID: ENSG00000167037; HGNC ID: 29410 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SGSM1|129049|nucleotide
ATGGCCTCGGCCCCCGCGGAGGCGGAGACCCGACAGAGGCTGCTACGCACCGTCAAGAAGGAGGTGAAGCAGATCATGGAGGAGGCTGTGACACGCAAGTTTGTC
CACGAAGACAGCAGCCACATCATCTCCTTCTGTGCGGCTGTGGAGGCCTGCGTTCTGCACGGGCTTCGGCGGCGGGCGGCTGGCTTCCTACGCAGCAATAAGATT
GCAGCCCTCTTTATGAAAGTGGGCAAGAACTTCCCGCCGGCTGAGGATCTGAGCCGCAAGGTGCAAGACCTGGAGCAGCTGATCGAGAGCGCGAGAAACCAGATT
CAAGGCCTCCAGGAGAATGTGCGGAAGCTGCCGAAGCTGCCCAACTTGTCCCCACTTGCCATCAAGCATCTGTGGATTCGCACAGCCTTGTTTGAGAAGGTCCTG
GACAAAATTGTGCATTACCTTGTGGAAAACAGCAGTAAATACTATGAGAAGGAAGCTCTCCTGATGGACCCTGTGGACGGCCCCATCCTTGCATCTTTGTTGGTG
GGGCCCTGTGCCCTAGAGTACACCAAGATGAAGACTGCAGATCACTTCTGGACCGATCCCTCGGCTGACGAACTTGTCCAGAGGCACCGCATCCACAGCTCCCAC
GTGCGGCAGGACTCGCCCACCAAGCGTCCTGCCCTCTGTATCCAGAAGAGGCATTCCAGTGGCAGCATGGATGACCGGCCATCCCTCTCTGCCCGCGACTACGTG
GAGTCCCTGCATCAGAACTCCCGTGCCACCCTTCTCTATGGCAAAAACAACGTTCTTGTTCAGCCGAGGGACGACATGGAGGCTGTGCCAGGGTACCTGTCCCTG
CACCAGACGGCTGACGTCATGACCTTGAAGTGGACACCCAACCAGCTGATGAACGGGTCTGTGGGGGACCTGGACTATGAGAAGAGCGTCTACTGGGACTATGCC
ATGACCATCCGCTTGGAGGAGATTGTCTACCTGCACTGCCACCAGCAAGTTGACAGCGGCGGGACAGTGGTATTGGTCAGCCAGGACGGGATCCAGAGGCCGCCC
TTCCGCTTCCCCAAGGGCGGGCACCTCCTGCAGTTCCTCTCGTGCCTGGAGAATGGGCTGCTCCCACATGGGCAGTTGGACCCGCCACTGTGGTCCCAGAGGGGT
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ATGGCCTCGGCCCCCGCGGAGGCGGAGACCCGACAGAGGCTGCTACGCACCGTCAAGAAGGAGGTGAAGCAGATCATGGAGGAGGCTGTGACACGCAAGTTTGTC
CACGAAGACAGCAGCCACATCATCTCCTTCTGTGCGGCTGTGGAGGCCTGCGTTCTGCACGGGCTTCGGCGGCGGGCGGCTGGCTTCCTACGCAGCAATAAGATT
GCAGCCCTCTTTATGAAAGTGGGCAAGAACTTCCCGCCGGCTGAGGATCTGAGCCGCAAGGTGCAAGACCTGGAGCAGCTGATCGAGAGCGCGAGAAACCAGATT
CAAGGCCTCCAGGAGAATGTGCGGAAGCTGCCGAAGCTGCCCAACTTGTCCCCACTTGCCATCAAGCATCTGTGGATTCGCACAGCCTTGTTTGAGAAGGTCCTG
GACAAAATTGTGCATTACCTTGTGGAAAACAGCAGTAAATACTATGAGAAGGAAGCTCTCCTGATGGACCCTGTGGACGGCCCCATCCTTGCATCTTTGTTGGTG
GGGCCCTGTGCCCTAGAGTACACCAAGATGAAGACTGCAGATCACTTCTGGACCGATCCCTCGGCTGACGAACTTGTCCAGAGGCACCGCATCCACAGCTCCCAC
GTGCGGCAGGACTCGCCCACCAAGCGTCCTGCCCTCTGTATCCAGAAGAGGCATTCCAGTGGCAGCATGGATGACCGGCCATCCCTCTCTGCCCGCGACTACGTG
GAGTCCCTGCATCAGAACTCCCGTGCCACCCTTCTCTATGGCAAAAACAACGTTCTTGTTCAGCCGAGGGACGACATGGAGGCTGTGCCAGGGTACCTGTCCCTG
CACCAGACGGCTGACGTCATGACCTTGAAGTGGACACCCAACCAGCTGATGAACGGGTCTGTGGGGGACCTGGACTATGAGAAGAGCGTCTACTGGGACTATGCC
ATGACCATCCGCTTGGAGGAGATTGTCTACCTGCACTGCCACCAGCAAGTTGACAGCGGCGGGACAGTGGTATTGGTCAGCCAGGACGGGATCCAGAGGCCGCCC
TTCCGCTTCCCCAAGGGCGGGCACCTCCTGCAGTTCCTCTCGTGCCTGGAGAATGGGCTGCTCCCACATGGGCAGTTGGACCCGCCACTGTGGTCCCAGAGGGGT
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>SGSM1|129049|protein
MASAPAEAETRQRLLRTVKKEVKQIMEEAVTRKFVHEDSSHIISFCAAVEACVLHGLRRRAAGFLRSNKIAALFMKVGKNFPPAEDLSRKVQDLEQLIESARNQI
QGLQENVRKLPKLPNLSPLAIKHLWIRTALFEKVLDKIVHYLVENSSKYYEKEALLMDPVDGPILASLLVGPCALEYTKMKTADHFWTDPSADELVQRHRIHSSH
VRQDSPTKRPALCIQKRHSSGSMDDRPSLSARDYVESLHQNSRATLLYGKNNVLVQPRDDMEAVPGYLSLHQTADVMTLKWTPNQLMNGSVGDLDYEKSVYWDYA
MTIRLEEIVYLHCHQQVDSGGTVVLVSQDGIQRPPFRFPKGGHLLQFLSCLENGLLPHGQLDPPLWSQRGKGKVFPKLRKRSPQGSAESTSSDKDDDEATDYVFR
IIYPGMQSEFVAPDFLGSTSSVSVGPAWMMVPAGRSMLVVARGSQWEPARWDTTLPTPSPKEQPPMPQDLMDVSVSNLPSLWQPSPRKSSCSSCSQSGSADGSST
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MASAPAEAETRQRLLRTVKKEVKQIMEEAVTRKFVHEDSSHIISFCAAVEACVLHGLRRRAAGFLRSNKIAALFMKVGKNFPPAEDLSRKVQDLEQLIESARNQI
QGLQENVRKLPKLPNLSPLAIKHLWIRTALFEKVLDKIVHYLVENSSKYYEKEALLMDPVDGPILASLLVGPCALEYTKMKTADHFWTDPSADELVQRHRIHSSH
VRQDSPTKRPALCIQKRHSSGSMDDRPSLSARDYVESLHQNSRATLLYGKNNVLVQPRDDMEAVPGYLSLHQTADVMTLKWTPNQLMNGSVGDLDYEKSVYWDYA
MTIRLEEIVYLHCHQQVDSGGTVVLVSQDGIQRPPFRFPKGGHLLQFLSCLENGLLPHGQLDPPLWSQRGKGKVFPKLRKRSPQGSAESTSSDKDDDEATDYVFR
IIYPGMQSEFVAPDFLGSTSSVSVGPAWMMVPAGRSMLVVARGSQWEPARWDTTLPTPSPKEQPPMPQDLMDVSVSNLPSLWQPSPRKSSCSSCSQSGSADGSST
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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) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
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 | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top