AutismKB 2.0

Evidence Details for FAM179B


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Basic Information Top
Gene Symbol:FAM179B ( DKFZp686D12126,KIAA0423 )
Gene Full Name: family with sequence similarity 179, member B
Band: 14q21.2
Quick LinksEntrez ID:23116; OMIM: NA; Uniprot ID:F179B_HUMAN; ENSEMBL ID: ENSG00000198718; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM179B|23116|nucleotide
ATGGCGGCTGCCCCCTCCGCGCTGCTTCTGCTGCCGCCCTTTCCAGTCCTCTCTACCTATCGGCTCCAGAGCCGCAGTCGTCCTTCCGCCCCAGAGACCGATGAT
AGTCGAGTTGGGGGCATTATGAGAGGAGAGAAAAACTACTACTTCCGTGGAGCTGCGGGGGACCACGGTTCCTGCCCCACTACAACTTCGCCTCTGGCCTCGGCC
CTCTTGATGCCCTCGGAGGCAGTCTCAAGCAGCTGGTCTGAGTCTGGAGGCGGTTTGTCAGGGGGAGATGAAGAGGACACTCGGCTCCTTCAACTCCTCCGCACT
GCCCGGGATCCTTCTGAGGCCTTCCAGGCTTTGCAAGCTGCTTTGCCGCGGCGGGGCGGTCGACTTGGCTTCCCCCGACGCAAGGAAGCTTTGTATCGGGCACTG
GGCCGAGTGCTTGTGGAAGGAGGTAGTGATGAGAAGCGGCTCTGCTTGCAACTTCTCTCGGACGTTCTCCGGGGTCAGGGGGAGGCAGGCCAGCTTGAAGAGGCC
TTTAGCTTAGCACTTTTGCCTCAACTAGTTGTCTCGTTACGGGAAGAGAATCCAGCCCTGCGGAAAGATGCGCTGCAGATCCTTCATATATGTCTGAAACGTAGT
CCTGGAGAGGTGCTGAGAACGCTTATACAACAAGGACTGGAAAGTACCGATGCCCGACTTAGAGCTTCCACAGCACTACTGCTTCCCATCTTGCTTACTACTGAG
GACTTGTTGCTTGGTCTGGATCTCACCGAGGTGATAATATCCCTAGCCCGAAAGCTTGGTGATCAGGAGACAGAAGAAGAATCTGAGACAGCTTTCTCCGCACTT
CAACAAATTGGGGAGCGACTTGGCCAAGACAGGTTTCAATCTTACATTTCTCGTCTGCCCTCTGCCCTGAGGAGACACTACAATCGCCGCCTGGAGTCCCAGTTT
GGAAGTCAGGTTCCTTATTATTTGGAACTTGAAGCCTCTGGATTTCCTGAAGATCCCCTTCCCTGTGCAGTGACTCTTTCCAACAGCAATCTTAAATTTGGGATT
ATTCCTCAGGAGCTGCATTCACGATTATTGGATCAGGAAGACTATAAGAACCGGACCCAGGCCGTCGAAGAACTAAAGCAGGTGCTGGGAAAATTTAACCCTAGT
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>FAM179B|23116|protein
MAAAPSALLLLPPFPVLSTYRLQSRSRPSAPETDDSRVGGIMRGEKNYYFRGAAGDHGSCPTTTSPLASALLMPSEAVSSSWSESGGGLSGGDEEDTRLLQLLRT
ARDPSEAFQALQAALPRRGGRLGFPRRKEALYRALGRVLVEGGSDEKRLCLQLLSDVLRGQGEAGQLEEAFSLALLPQLVVSLREENPALRKDALQILHICLKRS
PGEVLRTLIQQGLESTDARLRASTALLLPILLTTEDLLLGLDLTEVIISLARKLGDQETEEESETAFSALQQIGERLGQDRFQSYISRLPSALRRHYNRRLESQF
GSQVPYYLELEASGFPEDPLPCAVTLSNSNLKFGIIPQELHSRLLDQEDYKNRTQAVEELKQVLGKFNPSSTPHSSLVGFISLLYNLLDDSNFKVVHGTLEVLHL
LVIRLGEQVQQFLGPVIAASVKVLADNKLVIKQEYMKIFLKLMKEVGPQQVLCLLLEHLKHKHSRVREEVVNICICSLLTYPSEDFDLPKLSFDLAPALVDSKRR
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018