AutismKB 2.0

Evidence Details for KIAA0586


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Basic Information Top
Gene Symbol:KIAA0586 ( Talpid3 )
Gene Full Name: KIAA0586
Band: 14q23.1
Quick LinksEntrez ID:9786; OMIM: 610178; Uniprot ID:Q6UV20_HUMAN; ENSEMBL ID: ENSG00000100578; HGNC ID: 19960
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA0586|9786|nucleotide
ATGAAAGGCTCTGAGGTCAGCTTGGAGAAGAAAAAAAAGATTAAGATGCCAGTGAAGAGACTTCGTGAGGTAGTTTCTCAAAATCATGGAGATCATTTGGTTTTG
CTGAAAGATGAGTTGCCCTGTGTTCCTCCGGCATTGTCTGCAAATAAACGTCTTCCTGTTGGAACGGGGACTAGTTTGAATGGAACATCACGTGGTTCATCAGAC
TTAACTTCTGCTAGAAATTGTTACCAGCCTCTATTAGAAAATCCCATGGTGTCAGAAAGTGATTTTTCTAAAGACGTTGCAGTGCAAGTGTTGCCTTTGGATAAA
ATAGAAGAGAACAACAAGCAAAAAGCAAATGACATCTTCATTTCTCAGTATACAATGGGACAGAAAGATGCTCTAAGAACAGTTTTAAAGCAAAAAGCTCAAAGC
ATGCCTGTTTTTAAGGAAGTAAAGGTACATCTGTTAGAAGATGCAGGCATAGAGAAGGATGCTGTTACTCAGGAGACTAGAATTTCACCCAGTGGAATTGATTCA
GCTACAACCGTGGCTGCAGCAACTGCTGCTGCCATTGCAACCGCAGCTCCGTTGATAAAGGTGCAGAGTGATTTGGAAGCAAAAGTCAATTCTGTTACAGAATTA
CTTAGTAAATTACAGGAGACTGATAAACACCTGCAACGTGTTACAGAGCAGCAAACAAGCATTCAGAGGAAACAAGAGAAATTACATTGTCATGATCACGAAAAG
CAAATGAATGTGTTTATGGAGCAGCACATAAGGCATCTTGAAAAGTTACAACAACAACAAATAGATATTCAGACTCATTTTATTAGTGCTGCACTCAAGACTAGT
AGTTTTCAGCCTGTTAGTATGCCCTCCTCCAGAGCAGTGGAAAAGTATTCCGTAAAACCAGAACACCCTAATCTTGGTAGCTGTAATCCATCTTTATATAACACA
TTTGCTTCCAAACAAGCACCTTTAAAAGAAGTTGAAGATACGAGTTTTGATAAACAGAAATCTCCTTTGGAGACACCAGCACCTCGCAGATTTGCTCCTGTACCT
GTTTCAAGGGATGATGAACTATCAAAGAGGGAAAATCTTTTGGAAGAAAAAGAAAATATGGAAGTGTCGTGTCACAGAGGAAATGTAAGACTATTGGAACAAATT
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>KIAA0586|9786|protein
MKGSEVSLEKKKKIKMPVKRLREVVSQNHGDHLVLLKDELPCVPPALSANKRLPVGTGTSLNGTSRGSSDLTSARNCYQPLLENPMVSESDFSKDVAVQVLPLDK
IEENNKQKANDIFISQYTMGQKDALRTVLKQKAQSMPVFKEVKVHLLEDAGIEKDAVTQETRISPSGIDSATTVAAATAAAIATAAPLIKVQSDLEAKVNSVTEL
LSKLQETDKHLQRVTEQQTSIQRKQEKLHCHDHEKQMNVFMEQHIRHLEKLQQQQIDIQTHFISAALKTSSFQPVSMPSSRAVEKYSVKPEHPNLGSCNPSLYNT
FASKQAPLKEVEDTSFDKQKSPLETPAPRRFAPVPVSRDDELSKRENLLEEKENMEVSCHRGNVRLLEQILNNNDSLTRKSESSNTTSLTRSKIGWTPEKTNRFP
SCEELETTKVTMQKSDDVLHDLGQKEKETNSMVQPKESLSMLKLPDLPQNSVKLQTTNTTRSVLKDAEKILRGVQNNKKVLEENLEAIIRAKDGAAMYSLINALS
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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 (2) 0 (0) 0 (0) 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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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

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.

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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