AutismKB 2.0

Evidence Details for RAB6B


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Basic Information Top
Gene Symbol:RAB6B ( - )
Gene Full Name: RAB6B, member RAS oncogene family
Band: 3q22.1
Quick LinksEntrez ID:51560; OMIM: NA; Uniprot ID:RAB6B_HUMAN; ENSEMBL ID: ENSG00000154917; HGNC ID: 14902
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAB6B|51560|nucleotide
ATGTCCGCAGGGGGAGATTTTGGGAATCCACTGAGAAAATTCAAGTTGGTGTTCTTGGGGGAGCAGAGCGTCGGGAAGACGTCTCTGATTACGAGGTTCATGTAC
GACAGCTTCGACAACACATACCAGGCAACCATTGGGATTGACTTCTTGTCAAAAACCATGTACTTGGAGGACCGCACGGTGCGACTGCAGCTCTGGGACACAGCT
GGTCAGGAGAGGTTCCGCAGCCTGATCCCCAGCTACATCCGGGACTCCACGGTGGCTGTGGTGGTGTACGACATCACAAATCTCAACTCCTTCCAACAGACCTCT
AAGTGGATCGACGACGTCAGGACAGAGAGGGGCAGTGATGTTATCATCATGCTGGTGGGCAACAAGACGGACCTGGCTGATAAGAGGCAGATAACCATCGAGGAG
GGGGAGCAGCGCGCCAAAGAACTGAGCGTCATGTTCATTGAGACCAGTGCGAAGACTGGCTACAACGTGAAGCAGCTTTTTCGACGTGTGGCGTCGGCTCTACCC
GGAATGGAGAATGTCCAGGAGAAAAGCAAAGAAGGGATGATCGACATCAAGCTGGACAAACCCCAGGAGCCCCCGGCCAGCGAGGGCGGCTGCTCCTGCTAA





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>RAB6B|51560|protein
MSAGGDFGNPLRKFKLVFLGEQSVGKTSLITRFMYDSFDNTYQATIGIDFLSKTMYLEDRTVRLQLWDTAGQERFRSLIPSYIRDSTVAVVVYDITNLNSFQQTS
KWIDDVRTERGSDVIIMLVGNKTDLADKRQITIEEGEQRAKELSVMFIETSAKTGYNVKQLFRRVASALPGMENVQEKSKEGMIDIKLDKPQEPPASEGGCSC



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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 (1) 0 (0) 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
Reference Case Number Family Number de novo Number Title
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
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