AutismKB 2.0

Evidence Details for FAM86B2


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Basic Information Top
Gene Symbol:FAM86B2 ( - )
Gene Full Name: family with sequence similarity 86, member B2
Band: 8p23.1
Quick LinksEntrez ID:653333; OMIM: NA; Uniprot ID:F86B2_HUMAN; ENSEMBL ID: ENSG00000145002; HGNC ID: 32222
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM86B2|653333|nucleotide
ATGGCGCCCGAGGAGAACGCGGGGACCGAACTCTTGCTGCAGGGTTTTGAGCGCCGCTTCCTGGCGGTGCGCACACTGCGCTCCTTCCCCTGGCAGAGCTTAGAG
GCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGACTGTGAGGCATCCTGTGTGTGTGAAGCACCCGCCGTCAGTCAAGTATGCC
TGGTGCTTTCTCTCAGAACTCATCAAAAAGCACGAGGCTGTCCACACGGAGCCTTTGGACAAACTGTACGAGGTGCTCGCGGAGACTCTGATGGCCAAGGAGTCC
ACCCAGGGCCACCGGAGCTATTTGCTGTCCTCAGGAGGCTCAGTCACACTCTCCAAGAGCACAGCCATCATCTCCCACGGTACCACAGGCCTGGTCACATGGGAT
GCCGCCCTCTACCTTGCAGAATGGGCCATCGAGAACCCGGCAGCCTTCATTAACAGGACTGTCCTAGAGCTTGGCAGTGGTGCCGGCCTCACAGGCCTTGCCATC
TGCAAGATGTGCCGCCCCCGGGCATACATCTTCAGCGACCCTCACAGCCGGATCCTCGAGCAGCTCCGAGGGAATGTCCTTCTCAATGGCCTCTCATTAGAGGCA
GACATCACTGGCAACTTAGACAGCCCCAGGGTGACAGTGGCCCAGCTGGACTGGGACGTAGCAATGGTCCATCAGCTCTCTGCCTTCCAGCCAGATGTTGTCATT
GCAGCAGACGTGCTGTATTGCCCAGAAGCCATCGTGTCGCTGGTCGGGGTCCTGCAGAGGCTGGCTGCCTGCCGGGAGCACAAGCGGGCTCCTGAGGTCTACGTG
GCCTTTACCGTCCGCAACCCAGAGACATGCCAGCTGTTCACCACCGAGCTAGGCCGGGATGGGATCAGATGGGAAGCGGAAGCTCATCATGACCAGAAACTGTTT
CCCTATGGAGAGCACTTGGAGATGGCAATGCTGAACCTCACACTGTAG

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>FAM86B2|653333|protein
MAPEENAGTELLLQGFERRFLAVRTLRSFPWQSLEAKLRDSSDSELLRDILQKTVRHPVCVKHPPSVKYAWCFLSELIKKHEAVHTEPLDKLYEVLAETLMAKES
TQGHRSYLLSSGGSVTLSKSTAIISHGTTGLVTWDAALYLAEWAIENPAAFINRTVLELGSGAGLTGLAICKMCRPRAYIFSDPHSRILEQLRGNVLLNGLSLEA
DITGNLDSPRVTVAQLDWDVAMVHQLSAFQPDVVIAADVLYCPEAIVSLVGVLQRLAACREHKRAPEVYVAFTVRNPETCQLFTTELGRDGIRWEAEAHHDQKLF
PYGEHLEMAMLNLTL

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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 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (5)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
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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  (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