Evidence Details for KCNS1
Basic Information Top
| Gene Symbol: | KCNS1 ( KV9.1 ) |
|---|---|
| Gene Full Name: | potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 |
| Band: | 20q13.12 |
| Quick Links | Entrez ID:3787; OMIM: 602905; Uniprot ID:KCNS1_HUMAN; ENSEMBL ID: ENSG00000124134; HGNC ID: 6300 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KCNS1|3787|nucleotide
ATGCTGATGCTGCTGGTCCGGGGAACACACTATGAGAACCTCCGGTCTAAAGTGGTGCTGCCAACACCCCTAGGAGGGAGGAGCACTGAAACCTTTGTGAGCGAG
TTCCCGGGCCCCGACACCGGGATCCGCTGGCGGCGAAGCGACGAGGCGCTGCGCGTGAACGTGGGTGGCGTGCGGCGGCAGCTGAGCGCGCGCGCCCTGGCGCGC
TTCCCGGGCACGCGGCTGGGCCGCCTGCAGGCCGCGGCGTCGGAGGAGCAGGCGCGGCGCCTGTGCGACGACTACGACGAGGCGGCGCGCGAATTCTACTTCGAC
CGGCACCCGGGCTTCTTCCTGAGCCTGCTGCACTTCTACCGCACTGGCCACCTGCACGTGCTCGACGAGCTGTGCGTCTTCGCCTTTGGCCAGGAGGCCGACTAC
TGGGGCCTAGGCGAGAACGCGCTTGCCGCGTGCTGCCGCGCGCGCTACCTGGAGAGGCGGCTGACCCAGCCGCACGCCTGGGACGAGGACAGCGACACGCCGAGC
AGCGTGGACCCGTGCCCCGACGAGATCTCCGACGTGCAGCGAGAACTGGCGCGCTATGGCGCGGCGCGCTGTGGCCGCCTGCGCCGCCGCCTCTGGCTGACCATG
GAGAACCCGGGCTACTCGCTGCCGAGCAAGCTCTTCAGCTGCGTCTCCATCAGCGTGGTGCTCGCCTCCATCGCCGCCATGTGCATCCACAGCCTGCCCGAGTAC
CAGGCCCGCGAGGCGGCGGCCGCCGTGGCTGCGGTGGCCGCGGGCCGCAGCCCGGAAGGCGTGCGCGACGACCCGGTGCTGCGACGCCTCGAGTACTTCTGCATC
GCCTGGTTCAGCTTCGAGGTGTCGTCGCGCCTCCTGCTGGCGCCCAGTACGCGCAACTTCTTCTGCCACCCGCTCAACCTCATCGACATTGTGTCTGTGCTGCCC
TTCTATCTCACGCTGCTGGCTGGTGTGGCACTGGGCGACCAGGGCGGCAAGGAGTTCGGCCACCTGGGCAAGGTGGTGCAGGTGTTCCGCCTCATGCGCATCTTC
CGCGTACTCAAGTTGGCGCGCCATTCCACCGGGCTGCGCTCGCTGGGAGCCACGCTCAAGCACAGCTACCGTGAGGTGGGCATCTTGCTGCTGTACCTGGCTGTG
Show »
ATGCTGATGCTGCTGGTCCGGGGAACACACTATGAGAACCTCCGGTCTAAAGTGGTGCTGCCAACACCCCTAGGAGGGAGGAGCACTGAAACCTTTGTGAGCGAG
TTCCCGGGCCCCGACACCGGGATCCGCTGGCGGCGAAGCGACGAGGCGCTGCGCGTGAACGTGGGTGGCGTGCGGCGGCAGCTGAGCGCGCGCGCCCTGGCGCGC
TTCCCGGGCACGCGGCTGGGCCGCCTGCAGGCCGCGGCGTCGGAGGAGCAGGCGCGGCGCCTGTGCGACGACTACGACGAGGCGGCGCGCGAATTCTACTTCGAC
CGGCACCCGGGCTTCTTCCTGAGCCTGCTGCACTTCTACCGCACTGGCCACCTGCACGTGCTCGACGAGCTGTGCGTCTTCGCCTTTGGCCAGGAGGCCGACTAC
TGGGGCCTAGGCGAGAACGCGCTTGCCGCGTGCTGCCGCGCGCGCTACCTGGAGAGGCGGCTGACCCAGCCGCACGCCTGGGACGAGGACAGCGACACGCCGAGC
AGCGTGGACCCGTGCCCCGACGAGATCTCCGACGTGCAGCGAGAACTGGCGCGCTATGGCGCGGCGCGCTGTGGCCGCCTGCGCCGCCGCCTCTGGCTGACCATG
GAGAACCCGGGCTACTCGCTGCCGAGCAAGCTCTTCAGCTGCGTCTCCATCAGCGTGGTGCTCGCCTCCATCGCCGCCATGTGCATCCACAGCCTGCCCGAGTAC
CAGGCCCGCGAGGCGGCGGCCGCCGTGGCTGCGGTGGCCGCGGGCCGCAGCCCGGAAGGCGTGCGCGACGACCCGGTGCTGCGACGCCTCGAGTACTTCTGCATC
GCCTGGTTCAGCTTCGAGGTGTCGTCGCGCCTCCTGCTGGCGCCCAGTACGCGCAACTTCTTCTGCCACCCGCTCAACCTCATCGACATTGTGTCTGTGCTGCCC
TTCTATCTCACGCTGCTGGCTGGTGTGGCACTGGGCGACCAGGGCGGCAAGGAGTTCGGCCACCTGGGCAAGGTGGTGCAGGTGTTCCGCCTCATGCGCATCTTC
CGCGTACTCAAGTTGGCGCGCCATTCCACCGGGCTGCGCTCGCTGGGAGCCACGCTCAAGCACAGCTACCGTGAGGTGGGCATCTTGCTGCTGTACCTGGCTGTG
Show »
>KCNS1|3787|protein
MLMLLVRGTHYENLRSKVVLPTPLGGRSTETFVSEFPGPDTGIRWRRSDEALRVNVGGVRRQLSARALARFPGTRLGRLQAAASEEQARRLCDDYDEAAREFYFD
RHPGFFLSLLHFYRTGHLHVLDELCVFAFGQEADYWGLGENALAACCRARYLERRLTQPHAWDEDSDTPSSVDPCPDEISDVQRELARYGAARCGRLRRRLWLTM
ENPGYSLPSKLFSCVSISVVLASIAAMCIHSLPEYQAREAAAAVAAVAAGRSPEGVRDDPVLRRLEYFCIAWFSFEVSSRLLLAPSTRNFFCHPLNLIDIVSVLP
FYLTLLAGVALGDQGGKEFGHLGKVVQVFRLMRIFRVLKLARHSTGLRSLGATLKHSYREVGILLLYLAVGVSVFSGVAYTAEKEEDVGFNTIPACWWWGTVSMT
TVGYGDVVPVTVAGKLAASGCILGGILVVALPITIIFNKFSHFYRRQKALEAAVRNSNHQEFEDLLSSIDGVSEASLETSRETSQEGQSADLESQAPSEPPHPQM
Show »
MLMLLVRGTHYENLRSKVVLPTPLGGRSTETFVSEFPGPDTGIRWRRSDEALRVNVGGVRRQLSARALARFPGTRLGRLQAAASEEQARRLCDDYDEAAREFYFD
RHPGFFLSLLHFYRTGHLHVLDELCVFAFGQEADYWGLGENALAACCRARYLERRLTQPHAWDEDSDTPSSVDPCPDEISDVQRELARYGAARCGRLRRRLWLTM
ENPGYSLPSKLFSCVSISVVLASIAAMCIHSLPEYQAREAAAAVAAVAAGRSPEGVRDDPVLRRLEYFCIAWFSFEVSSRLLLAPSTRNFFCHPLNLIDIVSVLP
FYLTLLAGVALGDQGGKEFGHLGKVVQVFRLMRIFRVLKLARHSTGLRSLGATLKHSYREVGILLLYLAVGVSVFSGVAYTAEKEEDVGFNTIPACWWWGTVSMT
TVGYGDVVPVTVAGKLAASGCILGGILVVALPITIIFNKFSHFYRRQKALEAAVRNSNHQEFEDLLSSIDGVSEASLETSRETSQEGQSADLESQAPSEPPHPQM
Show »
Evidence summary TopClick 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 (0) | 1 (1) | 0 (0) | 1 (1) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 23 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen |  | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.613791 | Down | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Neale BM, 2012 | 175 | 175 | 173 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. |
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.