AutismKB 2.0

Evidence Details for KIAA1967


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Basic Information Top
Gene Symbol:KIAA1967 ( DBC-1,DBC1,NET35,p30DBC )
Gene Full Name: KIAA1967
Band: 8p22
Quick LinksEntrez ID:57805; OMIM: 607359; Uniprot ID:K1967_HUMAN; ENSEMBL ID: ENSG00000158941; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA1967|57805|nucleotide
ATGTCCCAGTTTAAGCGCCAGCGGATCAACCCGCTTCCAGGGGGACGCAACTTCTCAGGCACAGCTTCAACATCTCTTCTGGGCCCTCCTCCTGGTTTGCTCACT
CCTCCTGTGGCCACAGAACTGTCCCAGAATGCCAGGCACCTTCAGGGTGGGGAGAAACAGCGGGTCTTCACTGGTATTGTTACCAGCTTGCATGACTACTTTGGG
GTTGTGGATGAAGAGGTCTTTTTTCAGCTAAGTGTGGTGAAGGGCCGTCTGCCCCAGCTGGGTGAGAAGGTGCTGGTGAAGGCTGCATACAACCCAGGCCAGGCA
GTGCCCTGGAATGCTGTCAAGGTGCAAACGCTCTCCAACCAGCCCCTACTGAAGTCCCCAGCACCTCCTCTTCTGCATGTAGCAGCCCTGGGCCAGAAGCAAGGG
ATCCTGGGAGCTCAGCCTCAGTTGATCTTCCAGCCTCACCGGATTCCCCCACTCTTTCCTCAGAAGCCTCTGAGTCTCTTCCAAACATCCCACACACTTCACCTG
AGCCACCTGAACAGATTTCCTGCCCGGGGCCCTCATGGACGGTTGGATCAGGGCCGAAGTGATGACTATGACTCCAAGAAACGCAAACAGCGGGCTGGTGGAGAG
CCCTGGGGTGCTAAGAAGCCAAGGCATGACCTGCCTCCTTACCGGGTCCACCTCACTCCTTACACTGTGGACAGCCCCATCTGTGACTTCCTAGAACTCCAGCGC
CGTTACCGCAGCCTCCTGGTCCCCTCAGATTTTCTGTCCGTGCATCTGAGTTGGCTATCAGCCTTCCCCCTGAGCCAGCCCTTTTCCCTCCATCATCCAAGCCGG
ATCCAGGTCTCTTCTGAAAAGGAGGCAGCTCCAGACGCTGGTGCTGAGCCCATCACTGCAGACAGTGACCCCGCTTATAGTTCGAAGGTACTGCTGCTCTCTTCC
CCGGGGTTGGAGGAATTGTATCGTTGTTGCATGCTCTTTGTGGATGACATGGCTGAGCCAAGGGAGACGCCAGAGCATCCTCTGAAGCAGATTAAGTTTTTGCTG
GGCAGGAAAGAAGAGGAGGCAGTGCTGGTTGGGGGTGAATGGTCTCCTTCCCTGGATGGCCTCGACCCCCAGGCTGACCCGCAGGTGCTGGTGCGTACCGCCATC
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>KIAA1967|57805|protein
MSQFKRQRINPLPGGRNFSGTASTSLLGPPPGLLTPPVATELSQNARHLQGGEKQRVFTGIVTSLHDYFGVVDEEVFFQLSVVKGRLPQLGEKVLVKAAYNPGQA
VPWNAVKVQTLSNQPLLKSPAPPLLHVAALGQKQGILGAQPQLIFQPHRIPPLFPQKPLSLFQTSHTLHLSHLNRFPARGPHGRLDQGRSDDYDSKKRKQRAGGE
PWGAKKPRHDLPPYRVHLTPYTVDSPICDFLELQRRYRSLLVPSDFLSVHLSWLSAFPLSQPFSLHHPSRIQVSSEKEAAPDAGAEPITADSDPAYSSKVLLLSS
PGLEELYRCCMLFVDDMAEPRETPEHPLKQIKFLLGRKEEEAVLVGGEWSPSLDGLDPQADPQVLVRTAIRCAQAQTGIDLSGCTKWWRFAEFQYLQPGPPRRLQ
TVVVYLPDVWTIMPTLEEWEALCQQKAAEAAPPTQEAQGETEPTEQAPDALEQAADTSRRNAETPEATTQQETDTDLPEAPPPPLEPAVIARPGCVNLSLHGIVE
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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 (3) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (6)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
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
Bailey, 1998 - microsatellite-based genomic screenPDD 99 - 99 - - - -
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
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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