AutismKB 2.0

Evidence Details for RAB27A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RAB27A ( GS2,HsT18676,MGC117246,RAB27,RAM )
Gene Full Name: RAB27A, member RAS oncogene family
Band: 15q21.3
Quick LinksEntrez ID:5873; OMIM: 603868; Uniprot ID:RB27A_HUMAN; ENSEMBL ID: ENSG00000069974; HGNC ID: 9766
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAB27A|5873|nucleotide
ATGTCTGATGGAGATTATGATTACCTCATCAAGTTTTTAGCTTTGGGAGACTCTGGTGTAGGGAAGACCAGTGTACTTTACCAATATACAGATGGTAAATTTAAC
TCCAAATTTATCACAACAGTGGGCATTGATTTCAGGGAAAAAAGAGTGGTGTACAGAGCCAGTGGGCCGGATGGAGCCACTGGCAGAGGCCAGAGAATCCACCTG
CAGTTATGGGACACAGCAGGGCAGGAGAGGTTTCGTAGCTTAACGACAGCGTTCTTCAGAGATGCTATGGGTTTTCTTCTACTTTTTGATCTGACAAATGAGCAA
AGTTTCCTCAATGTCAGAAACTGGATAAGCCAGCTACAGATGCATGCATATTGTGAAAACCCAGATATAGTGCTGTGTGGAAACAAGAGTGATCTGGAGGACCAG
AGAGTAGTGAAAGAGGAGGAAGCCATAGCACTCGCAGAGAAATATGGAATCCCCTACTTTGAAACTAGTGCTGCCAATGGGACAAACATAAGCCAAGCAATTGAG
ATGCTTCTGGACCTGATAATGAAGCGAATGGAACGGTGTGTGGACAAGTCCTGGATTCCTGAAGGAGTGGTGCGATCAAATGGTCATGCCTCTACGGATCAGTTA
AGTGAAGAAAAGGAGAAAGGGGCATGTGGCTGTTGA




Show »

>RAB27A|5873|protein
MSDGDYDYLIKFLALGDSGVGKTSVLYQYTDGKFNSKFITTVGIDFREKRVVYRASGPDGATGRGQRIHLQLWDTAGQERFRSLTTAFFRDAMGFLLLFDLTNEQ
SFLNVRNWISQLQMHAYCENPDIVLCGNKSDLEDQRVVKEEEAIALAEKYGIPYFETSAANGTNISQAIEMLLDLIMKRMERCVDKSWIPEGVVRSNGHASTDQL
SEEKEKGACGC


Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 1 (2) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)
autism with nonaffected sib pairsautism 17
(-)
1.04 Up -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: AI309109
  • GEO_ID: GSE15402
  • Statistic Method: PCA; SAM by MEV with FDR<0.05
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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