Evidence Details for KCNS3
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 Links | Entrez 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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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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MVFGEFFHRPGQDEELVNLNVGGFKQSVDQSTLLRFPHTRLGKLLTCHSEEAILELCDDYSVADKEYYFDRNPSLFRYVLNFYYTGKLHVMEELCVFSFCQEIEY
WGINELFIDSCCSNRYQERKEENHEKDWDQKSHDVSTDSSFEESSLFEKELEKFDTLRFGQLRKKIWIRMENPAYCLSAKLIAISSLSVVLASIVAMCVHSMSEF
QNEDGEVDDPVLEGVEIACIAWFTGELAVRLAAAPCQKKFWKNPLNIIDFVSIIPFYATLAVDTKEEESEDIENMGKVVQILRLMRIFRILKLARHSVGLRSLGA
TLRHSYHEVGLLLLFLSVGISIFSVLIYSVEKDDHTSSLTSIPICWWWATISMTTVGYGDTHPVTLAGKLIASTCIICGILVVALPITIIFNKFSKYYQKQKDID
VDQCSEDAPEKCHELPYFNIRDIYAQRMHTFITSLSSVGIVVSDPDSTDASSIEDNEDICNTTSLENCTAK
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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 | aCGH | ASD | 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 screen | ASD | 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
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