AutismKB 2.0

Evidence Details for KRBA1


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Basic Information Top
Gene Symbol:KRBA1 ( KIAA1862,MGC176633 )
Gene Full Name: KRAB-A domain containing 1
Band: 7q36.1
Quick LinksEntrez ID:84626; OMIM: NA; Uniprot ID:KRBA1_HUMAN; ENSEMBL ID: ENSG00000133619; HGNC ID: 22228
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KRBA1|84626|nucleotide
ATGCGGGAGAACTACGAGACGCTGGTCTCTGTGGGGACAGCTGAGCTGCTCCCCCTCTCTGCTTTCCTGTCACCCTCAGAGCCTGGAAGAGCTGTTGGGGGAGGG
AGCCACGCTGATGAGGGGCAGGAGCCTGCTGGTTGTGGAGATCCCCAGGGGGGACAGCCCCGGCACAGCCTGCACCTCACAGCCCTGGTGCAGCTGGTGAAGGAG
ATCCCAGAGTTCTTGTTTGGAGAAGTCAAGGGCGCTATGGACAGCCCCGAGAGCGAGAGCCGGGGAGCCAGCCTGGATGGAGAGAGAGCGAGCCCCGAGGCAGCT
GCGGCAAGAGAGCCCTGCCCTCTCCGAGGCCTGCTCAGCTGCCTTCCAGACGGCCCTACCAGCCAGCCCCACCTGGCCACCACGCCCACCGACAGCTCGTGTTCC
AGTGGCCCAACTGGTGACGGGGTCCAGGGAAGTCCTCTCCCCATCAAAACTGCCGACAAACCGTGGCCTACAAGGAAGGAAGGCCCAGGAGCCCTGGGCGGGGAG
CCCAGCCCTCCCACCCATAGCCCCAGCAGGAGGAAGAGCCACAGAGGACAGGAGAGAGGGACCTCAGAGGCCGGAATTTCTCCTGGGAACAGCCCCTTGCAAGGC
CTCATCAACTGTCTGAAGGAAATCCTTGTGCCTGGGCCCCGGCACCCCGAGACATCCCCAAGCTTCTTGCCACCTCTCCCTAGCCTGGGCACGTCCAGGCTAACC
AGAGCAGACCTGGGGCCTGGGAGCCCGCCCTGGGCAGTGAAGACCGAGGCGGTTTCAGGGGATTGTCCCCTCCAGGGTCTGCTACACTGTCTGAAGGAGCTCCCC
GAGGCCCAGGACAGGCATCCCAGTCCCTCAGGAGTGGGGAACCGACGGCTACAGGAGAATCCAGGAGCCTGGAAAAGGGGTTCTGGAGGGCCTGGATACCTCCTG
ACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTGCTCTCTGTGAAGATGGAGAACAGCTGGGTCCAGAGCCCCCCAGGACCTGCATCCTGTCAGCCTGGC
AGGCAGCCCCTCAGTCCCTCAGCCACTGGAGACACCAGAGGGGTCCCCCAACCCAGCTGGGGCCCTGAGGCTCAAGCTGCCAGTGCCTCAAGCTCACCGCTGGAA
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>KRBA1|84626|protein
MRENYETLVSVGTAELLPLSAFLSPSEPGRAVGGGSHADEGQEPAGCGDPQGGQPRHSLHLTALVQLVKEIPEFLFGEVKGAMDSPESESRGASLDGERASPEAA
AAREPCPLRGLLSCLPDGPTSQPHLATTPTDSSCSSGPTGDGVQGSPLPIKTADKPWPTRKEGPGALGGEPSPPTHSPSRRKSHRGQERGTSEAGISPGNSPLQG
LINCLKEILVPGPRHPETSPSFLPPLPSLGTSRLTRADLGPGSPPWAVKTEAVSGDCPLQGLLHCLKELPEAQDRHPSPSGVGNRRLQENPGAWKRGSGGPGYLL
TPPPHPDLGAGGLLSVKMENSWVQSPPGPASCQPGRQPLSPSATGDTRGVPQPSWGPEAQAASASSSPLEALEACLKGIPPNGSSPSQLPPTSCSQNPQPGDSRS
QKPELQPHRSHSEEATREPVLPLGLQSCVRDGPSRPLAPRGTPTSFSSSSSTDWDLDFGSPVGNQGQHPGKGSPPGSSPLQGLENCLKEIPVPVLRPAWPCSSAA
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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) 1 (2) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Molloy, 2005 USA microsatellite-based genomic screenASD 34 - 34 - - - -
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
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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