Evidence Details for FAM57B
Basic Information Top
| Gene Symbol: | FAM57B ( DKFZp434I2117 ) |
|---|---|
| Gene Full Name: | family with sequence similarity 57, member B |
| Band: | 16p11.2 |
| Quick Links | Entrez ID:83723; OMIM: NA; Uniprot ID:FA57B_HUMAN; ENSEMBL ID: ENSG00000149926; HGNC ID: 25295 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>FAM57B|83723|nucleotide
ATGCTGACCCCGATGGTGGCCGGGGGGGTGGTGTTCCCCGGACTCTTCCTCCTCTCCAAGAACACGCTCCAGCGGCTGCCCCAGCTACGCTGGGAGGAGGCCGAC
GCAGTCATTGTCTCAGCCAGGCTGGTGTCCTCTGTCCAGGCCATCATGGCCTCCACTGCCGGCTACATCGTCTCCACCTCCTGCAAGCACATCATTGATGACCAA
CACTGGCTGTCCTCTGCCTACACGCAATTTGCTGTGCCCTACTTCATCTACGACATCTACGCCATGTTCCTCTGTCACTGGCACAAGCACCAGGTCAAAGGGCAT
GGAGGGGACGACGGAGCGGCCAGAGCCCCGGGCAGCACGTGGGCCATAGCGCGTGGCTACCTGCACAAGGAGTTCCTCATGGTGCTCCACCATGCCGCCATGGTG
CTGGTGTGCTTCCCACTCTCAGTGGTGTGGCGACAGGGTAAGGGAGACTTCTTTCTGGGTTGCATGTTGATGGCAGAGGTCAGCACGCCCTTCGTCTGCCTTGGC
AAGATCCTCATCCAGTACAAGCAGCAGCACACACTGCTGCACAAGGTGAACGGGGCCCTGATGCTGCTCAGCTTCCTCTGCTGCCGGGTGCTGCTCTTTCCCTAC
CTGTACTGGGCCTACGGGCGCCATGCCGGCCTGCCCCTGCTGGCCGTGCCCCTGGCCATCCCTGCCCACGTCAACCTGGGCGCTGCGCTGCTCCTGGCCCCTCAG
CTCTACTGGTTCTTCCTCATCTGCCGTGGGGCCTGCCGCCTCTTCTGGCCCCGCTCCCGGCCGCCCCCGGCCTGCCAGGCCCAGGACTGA
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ATGCTGACCCCGATGGTGGCCGGGGGGGTGGTGTTCCCCGGACTCTTCCTCCTCTCCAAGAACACGCTCCAGCGGCTGCCCCAGCTACGCTGGGAGGAGGCCGAC
GCAGTCATTGTCTCAGCCAGGCTGGTGTCCTCTGTCCAGGCCATCATGGCCTCCACTGCCGGCTACATCGTCTCCACCTCCTGCAAGCACATCATTGATGACCAA
CACTGGCTGTCCTCTGCCTACACGCAATTTGCTGTGCCCTACTTCATCTACGACATCTACGCCATGTTCCTCTGTCACTGGCACAAGCACCAGGTCAAAGGGCAT
GGAGGGGACGACGGAGCGGCCAGAGCCCCGGGCAGCACGTGGGCCATAGCGCGTGGCTACCTGCACAAGGAGTTCCTCATGGTGCTCCACCATGCCGCCATGGTG
CTGGTGTGCTTCCCACTCTCAGTGGTGTGGCGACAGGGTAAGGGAGACTTCTTTCTGGGTTGCATGTTGATGGCAGAGGTCAGCACGCCCTTCGTCTGCCTTGGC
AAGATCCTCATCCAGTACAAGCAGCAGCACACACTGCTGCACAAGGTGAACGGGGCCCTGATGCTGCTCAGCTTCCTCTGCTGCCGGGTGCTGCTCTTTCCCTAC
CTGTACTGGGCCTACGGGCGCCATGCCGGCCTGCCCCTGCTGGCCGTGCCCCTGGCCATCCCTGCCCACGTCAACCTGGGCGCTGCGCTGCTCCTGGCCCCTCAG
CTCTACTGGTTCTTCCTCATCTGCCGTGGGGCCTGCCGCCTCTTCTGGCCCCGCTCCCGGCCGCCCCCGGCCTGCCAGGCCCAGGACTGA
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>FAM57B|83723|protein
MLTPMVAGGVVFPGLFLLSKNTLQRLPQLRWEEADAVIVSARLVSSVQAIMASTAGYIVSTSCKHIIDDQHWLSSAYTQFAVPYFIYDIYAMFLCHWHKHQVKGH
GGDDGAARAPGSTWAIARGYLHKEFLMVLHHAAMVLVCFPLSVVWRQGKGDFFLGCMLMAEVSTPFVCLGKILIQYKQQHTLLHKVNGALMLLSFLCCRVLLFPY
LYWAYGRHAGLPLLAVPLAIPAHVNLGAALLLAPQLYWFFLICRGACRLFWPRSRPPPACQAQD
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MLTPMVAGGVVFPGLFLLSKNTLQRLPQLRWEEADAVIVSARLVSSVQAIMASTAGYIVSTSCKHIIDDQHWLSSAYTQFAVPYFIYDIYAMFLCHWHKHQVKGH
GGDDGAARAPGSTWAIARGYLHKEFLMVLHHAAMVLVCFPLSVVWRQGKGDFFLGCMLMAEVSTPFVCLGKILIQYKQQHTLLHKVNGALMLLSFLCCRVLLFPY
LYWAYGRHAGLPLLAVPLAIPAHVNLGAALLLAPQLYWFFLICRGACRLFWPRSRPPPACQAQD
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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) | 2 (14) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (14) |
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 | ||||||
| Finelli, 2004 | - | FISH |  | | autistic feature | - | - | - | - | 2 | - | 2 |
| Sebat, 2007 | USA | aCGH |  | | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Kumar, 2008 | USA | aCGH | | | ASD | - | - | - | - | 712 | 837 | 1549 |
| Christian, 2008 | USA | aCGH | | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| 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 |
| Shen, 2010 | China | aCGH | | | ASD | 1 | 1 | - | - | - | - | - |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top