AutismKB 2.0

Evidence Details for FAM124B


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Basic Information Top
Gene Symbol:FAM124B ( FLJ22746 )
Gene Full Name: family with sequence similarity 124B
Band: 2q36.2
Quick LinksEntrez ID:79843; OMIM: NA; Uniprot ID:F124B_HUMAN; ENSEMBL ID: ENSG00000124019; HGNC ID: 26224
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM124B|79843|nucleotide
ATGGATGAGACACAGGGGCCTCTGGCCATGACTGTCCATCTTCTTGCCAACTCTGGGCACGGCTCCCTTCTGCAGAGGACTCTGGACCAGCTCCTGGATTGCATT
TGCCCAGAGGTCCGGCTCTTTCAGGTGTCTGAACGGGCCAGTCCTGTGAAATACTGTGAAAAGTCCCATTCCAAGCGGTCCCGGTTTCCAGGGATGTCCGTGTTG
CTCTTCCTGCACGAAAGCCCGGGAGAGGATAGGCTATTTCGCGTCCTGGACTCTCTCCAGCATTCGCCATGGCAGTGCTACCCCACCCAGGACACTCGGGGAAGG
CTGTGTCCCTACTTTTTTGCCAATCAGGAGTTCTACAGCCTGGACAGTCAGCTGCCCATCTGGGGGGTGAGGCAGGTGCACTGTGGCTCCGAGATCCTGAGGGTG
ACGCTGTACTGCAGTTTTGATAACTATGAAGACGCCATCAGACTCTACGAGATGATCCTGCAGAGAGAAGCGACCTTGCAAAAGAGCAATTTTTGTTTCTTCGTG
CTCTATGCCTCCAAGAGCTTTGCTCTGCAGCTCTCCCTGAAGCAGCTGCCCCCGGGAATGTCAGTGGACCCCAAAGAGTCTTCGGTGCTGCAGTTTAAGGTTCAA
GAGATCGGCCAGTTAGTGCCTCTGCTACCCAATCCATGCATGCCTATCAGCAGCACCAGGTGGCAGACTCAGGACTACGATGGCAACAAGATTCTGCTTCAGGTT
CAGCTGAATCCAGAACTTGGTGTTAAGAATGGCATCTTGGGAGCTGGCATGCTTCCCCTGGGCTCCAGGCTGACTTCTGTCTCTGCAAAGAGGACCTCAGAACCC
AGGAGCCAGAGGAACCAGGGCAAGAGGTCCCAGGGGCATTCTCTGGAGCTTCCTGAGCCCAGTGGGAGCCCCACATCAGACAGGTGTGCTGGCACTTCGTGGAAA
AGCCCTGGCCGGTCATTCCAGGTCAGCAGCCCAGCTATGGGTGCCCACCTGCACCTGTCTTCTCATCACCTTGAATCCGGGGCCAGAATGAAGGTCCTCAACCGG
GAAAACAGCTTTCAGAAGCTTGAGGCCGAGACGAATGTTGACACCGGCTTGACCATCATAAATTCTGAACCCAGGCAGACTTATTTTGGCGGATTTCCAAGGGAT
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>FAM124B|79843|protein
MDETQGPLAMTVHLLANSGHGSLLQRTLDQLLDCICPEVRLFQVSERASPVKYCEKSHSKRSRFPGMSVLLFLHESPGEDRLFRVLDSLQHSPWQCYPTQDTRGR
LCPYFFANQEFYSLDSQLPIWGVRQVHCGSEILRVTLYCSFDNYEDAIRLYEMILQREATLQKSNFCFFVLYASKSFALQLSLKQLPPGMSVDPKESSVLQFKVQ
EIGQLVPLLPNPCMPISSTRWQTQDYDGNKILLQVQLNPELGVKNGILGAGMLPLGSRLTSVSAKRTSEPRSQRNQGKRSQGHSLELPEPSGSPTSDRCAGTSWK
SPGRSFQVSSPAMGAHLHLSSHHLESGARMKVLNRENSFQKLEAETNVDTGLTIINSEPRQTYFGGFPRDLQTSQPPFCLPASSLGVATSKNNSVLKERVSPLPL
AGQRDLGTRKTISECLLHLQVQGEEKEEDEEEFFI
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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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Borg, 2002 - STS mappingautism - - - - 1 - 1
Linkage Studies Top