Evidence Details for KCNC1
Basic Information Top
| Gene Symbol: | KCNC1 ( FLJ41162,FLJ42249,FLJ43491,KV3.1,KV4,MGC129855,NGK2 ) |
|---|---|
| Gene Full Name: | potassium voltage-gated channel, Shaw-related subfamily, member 1 |
| Band: | 11p15.1 |
| Quick Links | Entrez ID:3746; OMIM: 176258; Uniprot ID:KCNC1_HUMAN; ENSEMBL ID: ENSG00000129159; HGNC ID: 6233 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KCNC1|3746|nucleotide
ATGGGCCAAGGGGACGAGAGCGAGCGCATCGTGATCAACGTGGGCGGCACGCGCCACCAGACGTACCGCTCGACCCTGCGCACGCTGCCCGGCACGCGGCTCGCC
TGGCTGGCGGAGCCCGACGCCCACAGCCACTTCGACTATGACCCGCGTGCTGACGAGTTCTTCTTCGACCGCCACCCCGGCGTCTTCGCGCACATCCTGAACTAC
TACCGCACGGGCAAGCTGCACTGCCCAGCCGACGTGTGCGGGCCGCTCTACGAGGAGGAGCTGGCCTTCTGGGGCATCGACGAGACCGACGTGGAGCCCTGCTGC
TGGATGACGTACCGCCAGCACCGCGACGCCGAGGAGGCTCTGGACAGCTTCGGCGGCGCTCCTCTGGACAACAGCGCCGACGACGCGGACGCCGACGGCCCTGGC
GACTCGGGCGACGGCGAGGACGAGCTGGAGATGACCAAGCGCCTGGCGCTCAGTGACTCCCCGGATGGCCGGCCTGGCGGCTTTTGGCGCCGCTGGCAGCCGCGC
ATCTGGGCGCTCTTCGAGGACCCGTACTCGTCCCGCTACGCGCGGTATGTGGCCTTCGCTTCCCTCTTCTTCATCCTGGTCTCCATCACCACCTTCTGCCTGGAG
ACCCACGAGCGCTTCAACCCCATCGTGAACAAGACGGAGATCGAGAACGTTCGCAATGGCACGCAAGTGCGCTACTACCGGGAGGCCGAGACGGAGGCCTTCCTT
ACCTACATCGAGGGCGTCTGTGTGGTCTGGTTCACCTTCGAGTTCCTCATGCGTGTCATCTTCTGCCCCAACAAGGTAGAGTTCATCAAGAACTCGCTCAACATC
ATTGACTTTGTGGCCATCCTGCCCTTCTACCTGGAGGTGGGGCTGAGCGGCCTGTCCTCCAAGGCAGCCAAGGACGTGCTGGGCTTCCTGCGCGTCGTCCGCTTC
GTGCGCATCTTGCGCATCTTTAAGCTGACCCGCCACTTTGTGGGCCTGCGGGTCCTGGGCCACACGCTCCGAGCCAGCACCAACGAGTTCCTGCTGCTCATCATC
TTCCTGGCCTTGGGCGTGCTGATCTTCGCCACCATGATCTACTACGCCGAGAGGATAGGGGCACAGCCCAATGACCCCAGCGCCAGTGAGCACACGCACTTTAAG
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ATGGGCCAAGGGGACGAGAGCGAGCGCATCGTGATCAACGTGGGCGGCACGCGCCACCAGACGTACCGCTCGACCCTGCGCACGCTGCCCGGCACGCGGCTCGCC
TGGCTGGCGGAGCCCGACGCCCACAGCCACTTCGACTATGACCCGCGTGCTGACGAGTTCTTCTTCGACCGCCACCCCGGCGTCTTCGCGCACATCCTGAACTAC
TACCGCACGGGCAAGCTGCACTGCCCAGCCGACGTGTGCGGGCCGCTCTACGAGGAGGAGCTGGCCTTCTGGGGCATCGACGAGACCGACGTGGAGCCCTGCTGC
TGGATGACGTACCGCCAGCACCGCGACGCCGAGGAGGCTCTGGACAGCTTCGGCGGCGCTCCTCTGGACAACAGCGCCGACGACGCGGACGCCGACGGCCCTGGC
GACTCGGGCGACGGCGAGGACGAGCTGGAGATGACCAAGCGCCTGGCGCTCAGTGACTCCCCGGATGGCCGGCCTGGCGGCTTTTGGCGCCGCTGGCAGCCGCGC
ATCTGGGCGCTCTTCGAGGACCCGTACTCGTCCCGCTACGCGCGGTATGTGGCCTTCGCTTCCCTCTTCTTCATCCTGGTCTCCATCACCACCTTCTGCCTGGAG
ACCCACGAGCGCTTCAACCCCATCGTGAACAAGACGGAGATCGAGAACGTTCGCAATGGCACGCAAGTGCGCTACTACCGGGAGGCCGAGACGGAGGCCTTCCTT
ACCTACATCGAGGGCGTCTGTGTGGTCTGGTTCACCTTCGAGTTCCTCATGCGTGTCATCTTCTGCCCCAACAAGGTAGAGTTCATCAAGAACTCGCTCAACATC
ATTGACTTTGTGGCCATCCTGCCCTTCTACCTGGAGGTGGGGCTGAGCGGCCTGTCCTCCAAGGCAGCCAAGGACGTGCTGGGCTTCCTGCGCGTCGTCCGCTTC
GTGCGCATCTTGCGCATCTTTAAGCTGACCCGCCACTTTGTGGGCCTGCGGGTCCTGGGCCACACGCTCCGAGCCAGCACCAACGAGTTCCTGCTGCTCATCATC
TTCCTGGCCTTGGGCGTGCTGATCTTCGCCACCATGATCTACTACGCCGAGAGGATAGGGGCACAGCCCAATGACCCCAGCGCCAGTGAGCACACGCACTTTAAG
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>KCNC1|3746|protein
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPADVCGPLYEEELAFWGIDETDVEPCC
WMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDSPDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLE
THERFNPIVNKTEIENVRNGTQVRYYREAETEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRF
VRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALC
ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPHHSTQSDTCPLAQEEILEINRADSKLNGEVAKAALANEDCPHIDQA
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MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPADVCGPLYEEELAFWGIDETDVEPCC
WMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDSPDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLE
THERFNPIVNKTEIENVRNGTQVRYYREAETEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRF
VRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALC
ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPHHSTQSDTCPLAQEEILEINRADSKLNGEVAKAALANEDCPHIDQA
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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) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 0
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | ||||||||||||
Proteomics Studies:1
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| Corbett, 2007_1 | USA | blood | liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) | 69 (15.94%) |  | | ASD | 35 (17.14%) |
|
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS 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.