AutismKB 2.0

Evidence Details for KCNC1


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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 LinksEntrez 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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>KCNC1|3746|protein
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPADVCGPLYEEELAFWGIDETDVEPCC
WMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDSPDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLE
THERFNPIVNKTEIENVRNGTQVRYYREAETEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRF
VRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALC
ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPHHSTQSDTCPLAQEEILEINRADSKLNGEVAKAALANEDCPHIDQA
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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 (0) 0 (0) 0 (0) 1 (1) 0 (0) 1 (2) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top