Evidence Details for GSG1L
Basic Information Top
| Gene Symbol: | GSG1L ( MGC18079,PRO19651 ) |
|---|---|
| Gene Full Name: | GSG1-like |
| Band: | 16p12.1 |
| Quick Links | Entrez ID:146395; OMIM: NA; Uniprot ID:GSG1L_HUMAN; ENSEMBL ID: ENSG00000169181; HGNC ID: 28283 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GSG1L|146395|nucleotide
ATGAAGACTAGCCGCCGCGGCCGAGCGCTCCTGGCCGTGGCCCTGAACCTGCTGGCGCTGCTGTTCGCCACCACCGCTTTCCTCACCACGCACTGGTGCCAGGGC
ACGCAGCGGGTCCCCAAGCCGGGCTGCGGCCAGGGCGGGCGCGCCAACTGCCCCAACTCGGGCGCCAACGCCACGGCCAACGGCACCGCCGCCCCCGCCGCCGCC
GCCGCCGCCGCCACCGCCTCGGGGAACGGCCCCCCTGGCGGCGCGCTCTACAGCTGGGAGACCGGCGACGACCGCTTCCTCTTCAGGAATTTCCACACCGGCATC
TGGTACTCGTGCGAGGAGGAGCTCAGCGGGCTTGGTGAAAAATGTCGCAGCTTCATTGACCTGGCCCCGGCATCGGAGAAAGGGGTCCTGTGGCTGTCTGTGGTC
TCCGAGGTGCTGTACATTCTGCTGCTGGTGGTTGGCTTCAGCCTCATGTGTCTCGAGCTCTTCCACTCCAGCAATGTCATCGACGGGCTCAAGCTCAATGCCTTC
GCGGCTGTCTTCACGGTGCTCTCAGGCCTCCTGGGAATGGTCGCCCACATGATGTACACGCAGGTGTTCCAGGTCACCGTGAGCCTCGGTCCTGAGGACTGGAGA
CCCCATTCCTGGGACTACGGGTGGTCCTTCTGCCTGGCGTGGGGCTCCTTTACCTGCTGCATGGCAGCCTCTGTCACCACGCTCAACTCCTACACCAAGACGGTC
ATTGAGTTCCGGCACAAGCGCAAGGTCTTTGAGCAGGGCTACCGGGAAGAGCCGACCTTCATAGACCCTGAGGCCATCAAGTACTTCCGGGAGAGGATGGAGAAG
AGGGACGGGAGCGAGGAGGACTTTCACTTAGACTGCCGCCACGAGAGATACCCTGCCCGACACCAGCCACACATGGCGGATTCCTGGCCCCGGAGCTCCGCACAG
GAAGCACCAGAGCTGAACCGACAGTGCTGGGTCTTGGGGCACTGGGTGTGA
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ATGAAGACTAGCCGCCGCGGCCGAGCGCTCCTGGCCGTGGCCCTGAACCTGCTGGCGCTGCTGTTCGCCACCACCGCTTTCCTCACCACGCACTGGTGCCAGGGC
ACGCAGCGGGTCCCCAAGCCGGGCTGCGGCCAGGGCGGGCGCGCCAACTGCCCCAACTCGGGCGCCAACGCCACGGCCAACGGCACCGCCGCCCCCGCCGCCGCC
GCCGCCGCCGCCACCGCCTCGGGGAACGGCCCCCCTGGCGGCGCGCTCTACAGCTGGGAGACCGGCGACGACCGCTTCCTCTTCAGGAATTTCCACACCGGCATC
TGGTACTCGTGCGAGGAGGAGCTCAGCGGGCTTGGTGAAAAATGTCGCAGCTTCATTGACCTGGCCCCGGCATCGGAGAAAGGGGTCCTGTGGCTGTCTGTGGTC
TCCGAGGTGCTGTACATTCTGCTGCTGGTGGTTGGCTTCAGCCTCATGTGTCTCGAGCTCTTCCACTCCAGCAATGTCATCGACGGGCTCAAGCTCAATGCCTTC
GCGGCTGTCTTCACGGTGCTCTCAGGCCTCCTGGGAATGGTCGCCCACATGATGTACACGCAGGTGTTCCAGGTCACCGTGAGCCTCGGTCCTGAGGACTGGAGA
CCCCATTCCTGGGACTACGGGTGGTCCTTCTGCCTGGCGTGGGGCTCCTTTACCTGCTGCATGGCAGCCTCTGTCACCACGCTCAACTCCTACACCAAGACGGTC
ATTGAGTTCCGGCACAAGCGCAAGGTCTTTGAGCAGGGCTACCGGGAAGAGCCGACCTTCATAGACCCTGAGGCCATCAAGTACTTCCGGGAGAGGATGGAGAAG
AGGGACGGGAGCGAGGAGGACTTTCACTTAGACTGCCGCCACGAGAGATACCCTGCCCGACACCAGCCACACATGGCGGATTCCTGGCCCCGGAGCTCCGCACAG
GAAGCACCAGAGCTGAACCGACAGTGCTGGGTCTTGGGGCACTGGGTGTGA
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>GSG1L|146395|protein
MKTSRRGRALLAVALNLLALLFATTAFLTTHWCQGTQRVPKPGCGQGGRANCPNSGANATANGTAAPAAAAAAATASGNGPPGGALYSWETGDDRFLFRNFHTGI
WYSCEEELSGLGEKCRSFIDLAPASEKGVLWLSVVSEVLYILLLVVGFSLMCLELFHSSNVIDGLKLNAFAAVFTVLSGLLGMVAHMMYTQVFQVTVSLGPEDWR
PHSWDYGWSFCLAWGSFTCCMAASVTTLNSYTKTVIEFRHKRKVFEQGYREEPTFIDPEAIKYFRERMEKRDGSEEDFHLDCRHERYPARHQPHMADSWPRSSAQ
EAPELNRQCWVLGHWV
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MKTSRRGRALLAVALNLLALLFATTAFLTTHWCQGTQRVPKPGCGQGGRANCPNSGANATANGTAAPAAAAAAATASGNGPPGGALYSWETGDDRFLFRNFHTGI
WYSCEEELSGLGEKCRSFIDLAPASEKGVLWLSVVSEVLYILLLVVGFSLMCLELFHSSNVIDGLKLNAFAAVFTVLSGLLGMVAHMMYTQVFQVTVSLGPEDWR
PHSWDYGWSFCLAWGSFTCCMAASVTTLNSYTKTVIEFRHKRKVFEQGYREEPTFIDPEAIKYFRERMEKRDGSEEDFHLDCRHERYPARHQPHMADSWPRSSAQ
EAPELNRQCWVLGHWV
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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 | 1 (2) | 2 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 8 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Anney, 2010_2 | Replication | Illumina Human 1M-single Infinium BeadChip | 595 | 1086 (-) |  | | ASD | - - |
- - | ||
| Anney, 2010_1 | Discovery | Illumina Human 1M-single Infinium BeadChip | 1369 | 1385 (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Finelli, 2004 | - | FISH |  | | autistic feature | - | - | - | - | 2 | - | 2 |
| Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | | | ASD | 751 | - | - | - | 2252 | 23502 | 25754 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.