AutismKB 2.0

Evidence Details for KIAA1755


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Basic Information Top
Gene Symbol:KIAA1755 ( - )
Gene Full Name: KIAA1755
Band: 20q11.23
Quick LinksEntrez ID:85449; OMIM: NA; Uniprot ID:K1755_HUMAN; ENSEMBL ID: ENSG00000149633; HGNC ID: 29372
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA1755|85449|nucleotide
ATGGACCCTCCATCCCTCGACACAGCCATCCAGCATGCCCTGGCGGGCCTCTATCCTCCTTTCGAGGCCACAGCACCCACCGTCCTGGGTCAGGTGTTCCGTCTC
CTGGACTCTGGCTTCCAGGGGGATGGGCTGAGCTTCCTTCTGGATTTCCTGATCCCTGCCAAGCGCCTGTGTGAGCAAGTGCGAGAAGCAGCCTGTGCTCCCTAC
TCACACTGCCTCTTCTTACACGAGGGCTGGCCACTCTGTCTGAGGGATGAAGTTGTGGTCCACTTGGCACCCCTCAACCCTCTCTTATTGCGCCAGGGTGACTTC
TACCTCCAAGTGGAGCCCCAGGAGGAGCAGTCTGTCTGCATCATGATCAAATGCCTCTCCCTGGACCTCTGCACAGTGGACAAGAAGCCTGTTCCAGAGCCAGCC
TACCCTATACTTTTCACCCAAGAATGGCTGGAGGCCATCAACAGTGACTTTGAGGGAAATCCCCTACACAACTGCTTGGTAGCATCAGAAAATGGGATTGCCCCT
GTGCCTTGGACCAAGATAACCAGCCCAGAGTTTGTGGATGACAGACCCCAAGTAGTGAATGCCCTCTGCCAAGCCTGGGGGCCCCTTCCATTAGAGGCACTGGAT
TTGAGCAGCCCTCAAGAGTTGCACCAGGCCAGCTCCCCAGACAACCAGGTGCTTCCTGCCCAGAGTTTGGCCAAGGGTAAGGGCAGGACATATGGGAGCAAGTAT
CCAGGACTCATCAAGGTGGAGCAAGCCCGGTGTGGGGAGGTGGCTTTCAGGATGGACGAGGTGGTCAGCCAGGACTTCGAGGGAGACTATGTGGCTCTCCTAGGC
TTTTCCCAAGAGAGCAGAGGAGAGTCTCCCAGTAGGGAGGCAGGCACATCCAGTGGGTGTACTTCTGGGGCACTAGAGGAGATAGCTGGAACTAAGGAAACTCCC
TTATTTCAAAAGATACTGCCTCTCTCAGAGGCCAATGAAGGACCTTCCTTGGGAAATCGGGCTTGCACAAAGCCAGAAAGCTCTGAGGAGAGGCCCTATAATTTG
GGCTTCAGGAGAAAGGTCAATCTTAAAGCACCCACCCACAACTCAGAAAGGCCGCCCCAAGGCTCCTACATGAATGTCCTTGAGGACGCACTGGACTGTGCCTCT
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>KIAA1755|85449|protein
MDPPSLDTAIQHALAGLYPPFEATAPTVLGQVFRLLDSGFQGDGLSFLLDFLIPAKRLCEQVREAACAPYSHCLFLHEGWPLCLRDEVVVHLAPLNPLLLRQGDF
YLQVEPQEEQSVCIMIKCLSLDLCTVDKKPVPEPAYPILFTQEWLEAINSDFEGNPLHNCLVASENGIAPVPWTKITSPEFVDDRPQVVNALCQAWGPLPLEALD
LSSPQELHQASSPDNQVLPAQSLAKGKGRTYGSKYPGLIKVEQARCGEVAFRMDEVVSQDFEGDYVALLGFSQESRGESPSREAGTSSGCTSGALEEIAGTKETP
LFQKILPLSEANEGPSLGNRACTKPESSEERPYNLGFRRKVNLKAPTHNSERPPQGSYMNVLEDALDCASGLRAGVSQEPAASKMQGPLGNPENMVQLRPGPRQA
SSPRLSPASPAAAASETKIEVKTKERNGRLPKPMPCPSRNTSSPEPPTPGLKFSFLRGQRQPSVTPEKASLQHNGPWKVLCSLYSPKPNRAKSLGKAGTTQTKTS
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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 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
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
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
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