AutismKB 2.0

Evidence Details for KCNA5


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Basic Information Top
Gene Symbol:KCNA5 ( ATFB7,HCK1,HK2,HPCN1,KV1.5,MGC117058,MGC117059,PCN1 )
Gene Full Name: potassium voltage-gated channel, shaker-related subfamily, member 5
Band: 12p13.32
Quick LinksEntrez ID:3741; OMIM: 176267; Uniprot ID:KCNA5_HUMAN; ENSEMBL ID: ENSG00000130037; HGNC ID: 6224
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNA5|3741|nucleotide
ATGGAGATCGCCCTGGTGCCCCTGGAGAACGGCGGTGCCATGACCGTCAGAGGAGGCGATGAGGCCCGGGCAGGCTGCGGCCAGGCCACAGGGGGAGAGCTCCAG
TGTCCCCCGACGGCTGGGCTCAGCGATGGGCCCAAGGAGCCGGCGCCAAAGGGGCGCGGCGCGCAGAGAGACGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTG
CCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCAGAGGAGCTGCCACGGCCTCGACGGCCGCCTCCCGAGGACGAGGAGGAAGAAGGCGATCCCGGCCTGGGC
ACGGTGGAGGACCAGGCTCTGGGCACGGCGTCCCTGCACCACCAGCGCGTCCACATCAACATCTCCGGGCTGCGCTTTGAGACGCAGCTGGGCACCCTGGCGCAG
TTCCCCAACACACTCCTGGGGGACCCCGCCAAGCGCCTGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGGTATC
CTCTACTACTACCAGTCCGGGGGCCGCCTGCGGAGGCCGGTCAACGTCTCCCTGGACGTGTTCGCGGACGAGATACGCTTCTACCAGCTGGGGGACGAGGCCATG
GAGCGCTTCCGCGAGGATGAGGGCTTCATTAAAGAAGAGGAGAAGCCCCTGCCCCGCAACGAGTTCCAGCGCCAGGTGTGGCTTATCTTCGAGTATCCGGAGAGC
TCTGGGTCCGCGCGGGCCATCGCCATCGTCTCGGTCTTGGTTATCCTCATCTCCATCATCACCTTCTGCTTGGAGACCCTGCCTGAGTTCAGGGATGAACGTGAG
CTGCTCCGCCACCCTCCGGCGCCCCACCAGCCTCCCGCGCCCGCCCCTGGGGCCAACGGCAGCGGGGTCATGGCCCCGCCCTCTGGCCCTACGGTGGCACCGCTC
CTGCCCAGGACCCTGGCCGACCCCTTCTTCATCGTGGAGACCACGTGCGTCATCTGGTTCACCTTCGAGCTGCTCGTGCGCTTCTTCGCCTGCCCCAGCAAGGCA
GGGTTCTCCCGGAACATCATGAACATCATCGATGTGGTGGCCATCTTCCCCTACTTCATCACCCTGGGCACCGAACTGGCAGAGCAGCAGCCAGGGGGTGGAGGA
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>KCNA5|3741|protein
MEIALVPLENGGAMTVRGGDEARAGCGQATGGELQCPPTAGLSDGPKEPAPKGRGAQRDADSGVRPLPPLPDPGVRPLPPLPEELPRPRRPPPEDEEEEGDPGLG
TVEDQALGTASLHHQRVHINISGLRFETQLGTLAQFPNTLLGDPAKRLRYFDPLRNEYFFDRNRPSFDGILYYYQSGGRLRRPVNVSLDVFADEIRFYQLGDEAM
ERFREDEGFIKEEEKPLPRNEFQRQVWLIFEYPESSGSARAIAIVSVLVILISIITFCLETLPEFRDERELLRHPPAPHQPPAPAPGANGSGVMAPPSGPTVAPL
LPRTLADPFFIVETTCVIWFTFELLVRFFACPSKAGFSRNIMNIIDVVAIFPYFITLGTELAEQQPGGGGGGQNGQQAMSLAILRVIRLVRVFRIFKLSRHSKGL
QILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADNQGTHFSSIPDAFWWAVVTMTTVGYGDMRPITVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHR
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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) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top