AutismKB 2.0

Evidence Details for GAB2


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Basic Information Top
Gene Symbol:GAB2 ( KIAA0571 )
Gene Full Name: GRB2-associated binding protein 2
Band: 11q14.1
Quick LinksEntrez ID:9846; OMIM: 606203; Uniprot ID:GAB2_HUMAN; ENSEMBL ID: ENSG00000033327; HGNC ID: 14458
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GAB2|9846|nucleotide
ATGAGCGGTGACCCAGATGTTCTGGAATACTACAAGAACGATCACTCCAAGAAGCCTCTGCGGATCATCAACCTGAACTTCTGTGAGCAGGTAGATGCAGGCCTG
ACCTTTAACAAGAAGGAGCTGCAGGATAGTTTTGTGTTTGACATCAAGACCAGTGAACGCACCTTTTACCTGGTGGCTGAGACAGAAGAGGACATGAATAAGTGG
GTCCAGAGCATCTGCCAGATCTGTGGCTTCAATCAGGCTGAGGAGAGCACAGACTCCCTGAGAAATGTTTCCTCAGCCGGTCATGGCCCCCGCTCTTCTCCAGCT
GAGCTCAGCAGCTCTAGCCAGCACCTTCTCCGAGAGCGCAAGTCCTCAGCCCCATCACACTCCAGCCAGCCAACTCTGTTCACGTTTGAACCCCCTGTGTCAAAC
CACATGCAGCCCACCTTGTCCACCAGCGCACCTCAGGAGTATCTCTACTTGCACCAGTGCATAAGCCGAAGAGCAGAAAATGCAAGGAGTGCCAGCTTCTCTCAG
GGCACCAGAGCCTCTTTTCTCATGAGGAGTGACACAGCTGTACAAAAACTTGCCCAGGGCAATGGACACTGTGTCAACGGGATCAGTGGTCAAGTCCATGGCTTC
TATAGCCTTCCCAAGCCGAGCCGGCACAATACAGAATTCAGAGACAGTACCTACGACCTCCCCCGCAGCCTGGCCTCCCATGGCCACACCAAGGGCAGCCTCACA
GGCTCCGAGACAGATAATGAGGATGTGTACACCTTCAAGACGCCCAGCAACACCCTGTGCAGGGAGTTCGGGGACCTCCTGGTAGACAATATGGATGTTCCGGCC
ACCCCACTCTCAGCCTACCAGATCCCTAGGACATTCACTCTGGACAAAAACCACAATGCCATGACAGTGGCCACTCCTGGGGACTCAGCCATAGCTCCCCCACCC
CGCCCCCCCAAGCCAAGTCAGGCAGAAACACCTCGATGGGGCAGTCCTCAGCAGAGACCGCCAATCAGTGAAAATAGCAGATCTGTCGCTGCCACCATCCCCAGA
CGCAACACCCTCCCTGCAATGGACAACAGCCGACTTCACCGAGCTTCTTCCTGTGAGACCTACGAGTACCCACAGCGTGGTGGAGAGAGTGCAGGCCGGTCTGCT
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>GAB2|9846|protein
MSGDPDVLEYYKNDHSKKPLRIINLNFCEQVDAGLTFNKKELQDSFVFDIKTSERTFYLVAETEEDMNKWVQSICQICGFNQAEESTDSLRNVSSAGHGPRSSPA
ELSSSSQHLLRERKSSAPSHSSQPTLFTFEPPVSNHMQPTLSTSAPQEYLYLHQCISRRAENARSASFSQGTRASFLMRSDTAVQKLAQGNGHCVNGISGQVHGF
YSLPKPSRHNTEFRDSTYDLPRSLASHGHTKGSLTGSETDNEDVYTFKTPSNTLCREFGDLLVDNMDVPATPLSAYQIPRTFTLDKNHNAMTVATPGDSAIAPPP
RPPKPSQAETPRWGSPQQRPPISENSRSVAATIPRRNTLPAMDNSRLHRASSCETYEYPQRGGESAGRSAESMSDGVGSFLPGKMIVGRSDSTNSEDNYVPMNPG
SSTLLAMERAGDNSQSVYIPMSPGAHHFDSLGYPSTTLPVHRGPSRGSEIQPPPVNRNLKPDRKAKPTPLDLRNNTVIDELPFKSPITKSWSRANHTFNSSSSQY
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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 (1) 0 (0) 0 (2)
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
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
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