AutismKB 2.0

Evidence Details for KCNS3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KCNS3 ( KV9.3,MGC9481 )
Gene Full Name: potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3
Band: 2p24.2
Quick LinksEntrez ID:3790; OMIM: 603888; Uniprot ID:KCNS3_HUMAN; ENSEMBL ID: ENSG00000170745; HGNC ID: 6302
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNS3|3790|nucleotide
ATGGTGTTTGGTGAGTTTTTCCATCGCCCTGGACAAGACGAGGAACTTGTCAACCTGAATGTGGGGGGCTTTAAGCAGTCTGTTGACCAAAGCACCCTCCTGCGG
TTTCCTCACACCAGACTGGGGAAGCTGCTTACTTGCCATTCTGAAGAGGCCATTCTGGAGCTGTGTGATGATTACAGTGTGGCCGATAAGGAATACTACTTTGAT
CGGAATCCCTCCTTGTTCAGATATGTTTTGAATTTTTATTACACGGGGAAGCTGCATGTCATGGAGGAGCTGTGCGTATTCTCATTCTGCCAGGAGATCGAGTAC
TGGGGCATCAACGAGCTCTTCATTGATTCTTGCTGCAGCAATCGCTACCAGGAACGCAAGGAGGAAAACCACGAGAAGGACTGGGACCAGAAAAGCCATGATGTG
AGTACCGACTCCTCGTTTGAAGAGTCGTCTCTGTTTGAGAAAGAGCTGGAGAAGTTTGACACACTGCGATTTGGTCAGCTCCGGAAGAAAATCTGGATTAGAATG
GAGAATCCAGCGTACTGCCTGTCCGCTAAGCTTATCGCTATCTCCTCCTTGAGCGTGGTGCTGGCCTCCATCGTGGCCATGTGCGTTCACAGCATGTCGGAGTTC
CAGAATGAGGATGGAGAAGTGGATGATCCGGTGCTGGAAGGAGTGGAGATCGCGTGCATTGCCTGGTTCACCGGGGAGCTTGCCGTCCGGCTGGCTGCCGCTCCT
TGTCAAAAGAAATTCTGGAAAAACCCTCTGAACATCATTGACTTTGTCTCTATTATTCCCTTCTATGCCACGTTGGCTGTAGACACCAAGGAGGAAGAGAGTGAG
GATATTGAGAACATGGGCAAGGTGGTCCAGATCCTACGGCTTATGAGGATTTTCCGAATTCTAAAGCTTGCCCGGCACTCGGTAGGACTTCGGTCTCTAGGTGCC
ACACTGAGACACAGCTACCATGAAGTTGGGCTTCTGCTTCTCTTCCTCTCTGTGGGCATTTCCATTTTCTCTGTGCTTATCTACTCCGTGGAGAAAGATGACCAC
ACATCCAGCCTCACCAGCATCCCCATCTGCTGGTGGTGGGCCACCATCAGCATGACAACTGTGGGCTATGGAGACACCCACCCGGTCACCTTGGCGGGAAAGCTC
Show »

>KCNS3|3790|protein
MVFGEFFHRPGQDEELVNLNVGGFKQSVDQSTLLRFPHTRLGKLLTCHSEEAILELCDDYSVADKEYYFDRNPSLFRYVLNFYYTGKLHVMEELCVFSFCQEIEY
WGINELFIDSCCSNRYQERKEENHEKDWDQKSHDVSTDSSFEESSLFEKELEKFDTLRFGQLRKKIWIRMENPAYCLSAKLIAISSLSVVLASIVAMCVHSMSEF
QNEDGEVDDPVLEGVEIACIAWFTGELAVRLAAAPCQKKFWKNPLNIIDFVSIIPFYATLAVDTKEEESEDIENMGKVVQILRLMRIFRILKLARHSVGLRSLGA
TLRHSYHEVGLLLLFLSVGISIFSVLIYSVEKDDHTSSLTSIPICWWWATISMTTVGYGDTHPVTLAGKLIASTCIICGILVVALPITIIFNKFSKYYQKQKDID
VDQCSEDAPEKCHELPYFNIRDIYAQRMHTFITSLSSVGIVVSDPDSTDASSIEDNEDICNTTSLENCTAK
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (4)
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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
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