AutismKB 2.0

Evidence Details for ARRB1


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Basic Information Top
Gene Symbol:ARRB1 ( ARB1,ARR1 )
Gene Full Name: arrestin, beta 1
Band: 11q13.4
Quick LinksEntrez ID:408; OMIM: 107940; Uniprot ID:ARRB1_HUMAN; ENSEMBL ID: ENSG00000137486; HGNC ID: 711
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARRB1|408|nucleotide
ATGGGCGACAAAGGGACCCGAGTGTTCAAGAAGGCCAGTCCAAATGGAAAGCTCACCGTCTACCTGGGAAAGCGGGACTTTGTGGACCACATCGACCTCGTGGAC
CCTGTGGATGGTGTGGTCCTGGTGGATCCTGAGTATCTCAAAGAGCGGAGAGTCTATGTGACGCTGACCTGCGCCTTCCGCTATGGCCGGGAGGACCTGGATGTC
CTGGGCCTGACCTTTCGCAAGGACCTGTTTGTGGCCAACGTACAGTCGTTCCCACCGGCCCCCGAGGACAAGAAGCCCCTGACGCGGCTGCAGGAACGCCTCATC
AAGAAGCTGGGCGAGCACGCTTACCCTTTCACCTTTGAGATCCCTCCAAACCTTCCATGTTCTGTGACACTGCAGCCGGGGCCCGAAGACACGGGGAAGGCTTGC
GGTGTGGACTATGAAGTCAAAGCCTTCTGCGCGGAGAATTTGGAGGAGAAGATCCACAAGCGGAATTCTGTGCGTCTGGTCATCCGGAAGGTTCAGTATGCCCCA
GAGAGGCCTGGCCCCCAGCCCACAGCCGAGACCACCAGGCAGTTCCTCATGTCGGACAAGCCCTTGCACCTAGAAGCCTCTCTGGATAAGGAGATCTATTACCAT
GGAGAACCCATCAGCGTCAACGTCCACGTCACCAACAACACCAACAAGACGGTGAAGAAGATCAAGATCTCAGTGCGCCAGTATGCAGACATCTGCCTTTTCAAC
ACAGCTCAGTACAAGTGCCCTGTTGCCATGGAAGAGGCTGATGACACTGTGGCACCCAGCTCGACGTTCTGCAAGGTCTACACACTGACCCCCTTCCTAGCCAAT
AACCGAGAGAAGCGGGGCCTCGCCTTGGACGGGAAGCTCAAGCACGAAGACACGAACTTGGCCTCTAGCACCCTGTTGAGGGAAGGTGCCAACCGTGAGATCCTG
GGGATCATTGTTTCCTACAAAGTGAAAGTGAAGCTGGTGGTGTCTCGGGGCGGCCTGTTGGGAGATCTTGCATCCAGCGACGTGGCCGTGGAACTGCCCTTCACC
CTAATGCACCCCAAGCCCAAAGAGGAACCCCCGCATCGGGAAGTTCCAGAGAACGAGACGCCAGTAGATACCAATCTCATAGAACTTGACACAAATGATGACGAC
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>ARRB1|408|protein
MGDKGTRVFKKASPNGKLTVYLGKRDFVDHIDLVDPVDGVVLVDPEYLKERRVYVTLTCAFRYGREDLDVLGLTFRKDLFVANVQSFPPAPEDKKPLTRLQERLI
KKLGEHAYPFTFEIPPNLPCSVTLQPGPEDTGKACGVDYEVKAFCAENLEEKIHKRNSVRLVIRKVQYAPERPGPQPTAETTRQFLMSDKPLHLEASLDKEIYYH
GEPISVNVHVTNNTNKTVKKIKISVRQYADICLFNTAQYKCPVAMEEADDTVAPSSTFCKVYTLTPFLANNREKRGLALDGKLKHEDTNLASSTLLREGANREIL
GIIVSYKVKVKLVVSRGGLLGDLASSDVAVELPFTLMHPKPKEEPPHREVPENETPVDTNLIELDTNDDDIVFEDFARQRLKGMKDDKEEEEDGTGSPQLNNR

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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 (1) 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 13 (3)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
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
Gregg, 2008_1 mixed lymphoblastoid cell lines 35
(14.29%)
autismautism 12
(25.00%)
1.91 Up 0.0495
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 222912_at
  • RefSeq_ID/ EST: BE207758
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
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