AutismKB 2.0

Evidence Details for KCNS3


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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
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>KCNS3|3790|protein
MVFGEFFHRPGQDEELVNLNVGGFKQSVDQSTLLRFPHTRLGKLLTCHSEEAILELCDDYSVADKEYYFDRNPSLFRYVLNFYYTGKLHVMEELCVFSFCQEIEY
WGINELFIDSCCSNRYQERKEENHEKDWDQKSHDVSTDSSFEESSLFEKELEKFDTLRFGQLRKKIWIRMENPAYCLSAKLIAISSLSVVLASIVAMCVHSMSEF
QNEDGEVDDPVLEGVEIACIAWFTGELAVRLAAAPCQKKFWKNPLNIIDFVSIIPFYATLAVDTKEEESEDIENMGKVVQILRLMRIFRILKLARHSVGLRSLGA
TLRHSYHEVGLLLLFLSVGISIFSVLIYSVEKDDHTSSLTSIPICWWWATISMTTVGYGDTHPVTLAGKLIASTCIICGILVVALPITIIFNKFSKYYQKQKDID
VDQCSEDAPEKCHELPYFNIRDIYAQRMHTFITSLSSVGIVVSDPDSTDASSIEDNEDICNTTSLENCTAK
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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 (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