Evidence Details for FAM109B
Basic Information Top
Gene Symbol: | FAM109B ( DKFZp686J07229,MGC125831,MGC125832,Ses2 ) |
---|---|
Gene Full Name: | family with sequence similarity 109, member B |
Band: | 22q13.2 |
Quick Links | Entrez ID:150368; OMIM: NA; Uniprot ID:F109B_HUMAN; ENSEMBL ID: ENSG00000177096; HGNC ID: 27161 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>FAM109B|150368|nucleotide
ATGAAGCTGAACGAGAGGAGTGTAGCCCACTATGCACTCAGCGACTCCCCAGCGGACCACATGGGCTTCCTGCGCACCTGGGGGGGCCCAGGGACCCCACCGACC
CCCAGTGGCACTGGCCGAAGATGCTGGTTTGTCCTCAAGGGCAACCTGCTATTCTCCTTTGAGAGTCGCGAGGGCCGGGCCCCACTGAGCCTGGTGGTGCTGGAA
GGCTGCACAGTGGAACTGGCCGAGGCTCCCGTGCCCGAGGAGTTTGCCTTTGCCATCTGCTTTGATGCCCCTGGAGTGCGCCCACACCTGCTGGCCGCAGAAGGG
CCGGCGGCCCAGGAGGCCTGGGTGAAGGTGCTGTCCCGGGCAAGCTTTGGCTACATGCGCCTGGTGGTACGCGAGTTGGAGAGCCAGTTGCAGGACGCACGCCAG
AGCCTGGCTTTGCAACGCCGCTCATCCTGGAAGTCTGTTGCCAGCCGCTGTAAGCCCCAGGCTCCTAACCACCGAGCTGCGGGCCTGGAGAATGGCCACTGCCTC
TCCAAGGACAGCAGCCCTGTGGGCTTGGTTGAAGAAGCGGGCAGCAGGTCTGCAGGGTGGGGGTTGGCTGAGTGGGAGCTGCAGGGCCCTGCCAGCCTCCTCCTA
GGCAAGGGGCAGAGCCCTGTGTCCCCTGAGACCTCCTGCTTCTCTACCCTGCATGACTGGTATGGCCAGGAGATCGTGGAGCTGCGGCAGTGTTGGCAGAAGAGG
GCCCAGGGGAGCCACTCAAAATGTGAGGAACAGGATAGGCCCTAA
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ATGAAGCTGAACGAGAGGAGTGTAGCCCACTATGCACTCAGCGACTCCCCAGCGGACCACATGGGCTTCCTGCGCACCTGGGGGGGCCCAGGGACCCCACCGACC
CCCAGTGGCACTGGCCGAAGATGCTGGTTTGTCCTCAAGGGCAACCTGCTATTCTCCTTTGAGAGTCGCGAGGGCCGGGCCCCACTGAGCCTGGTGGTGCTGGAA
GGCTGCACAGTGGAACTGGCCGAGGCTCCCGTGCCCGAGGAGTTTGCCTTTGCCATCTGCTTTGATGCCCCTGGAGTGCGCCCACACCTGCTGGCCGCAGAAGGG
CCGGCGGCCCAGGAGGCCTGGGTGAAGGTGCTGTCCCGGGCAAGCTTTGGCTACATGCGCCTGGTGGTACGCGAGTTGGAGAGCCAGTTGCAGGACGCACGCCAG
AGCCTGGCTTTGCAACGCCGCTCATCCTGGAAGTCTGTTGCCAGCCGCTGTAAGCCCCAGGCTCCTAACCACCGAGCTGCGGGCCTGGAGAATGGCCACTGCCTC
TCCAAGGACAGCAGCCCTGTGGGCTTGGTTGAAGAAGCGGGCAGCAGGTCTGCAGGGTGGGGGTTGGCTGAGTGGGAGCTGCAGGGCCCTGCCAGCCTCCTCCTA
GGCAAGGGGCAGAGCCCTGTGTCCCCTGAGACCTCCTGCTTCTCTACCCTGCATGACTGGTATGGCCAGGAGATCGTGGAGCTGCGGCAGTGTTGGCAGAAGAGG
GCCCAGGGGAGCCACTCAAAATGTGAGGAACAGGATAGGCCCTAA
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>FAM109B|150368|protein
MKLNERSVAHYALSDSPADHMGFLRTWGGPGTPPTPSGTGRRCWFVLKGNLLFSFESREGRAPLSLVVLEGCTVELAEAPVPEEFAFAICFDAPGVRPHLLAAEG
PAAQEAWVKVLSRASFGYMRLVVRELESQLQDARQSLALQRRSSWKSVASRCKPQAPNHRAAGLENGHCLSKDSSPVGLVEEAGSRSAGWGLAEWELQGPASLLL
GKGQSPVSPETSCFSTLHDWYGQEIVELRQCWQKRAQGSHSKCEEQDRP
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MKLNERSVAHYALSDSPADHMGFLRTWGGPGTPPTPSGTGRRCWFVLKGNLLFSFESREGRAPLSLVVLEGCTVELAEAPVPEEFAFAICFDAPGVRPHLLAAEG
PAAQEAWVKVLSRASFGYMRLVVRELESQLQDARQSLALQRRSSWKSVASRCKPQAPNHRAAGLENGHCLSKDSSPVGLVEEAGSRSAGWGLAEWELQGPASLLL
GKGQSPVSPETSCFSTLHDWYGQEIVELRQCWQKRAQGSHSKCEEQDRP
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Evidence summary Top
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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 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Prasad, 2000 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Wassink, 2001 | USA | Chromosomal analysis of G-band | autism | - | - | - | - | 278 | - | 278 | ||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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