AutismKB 2.0

Evidence Details for KCNMB1


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Basic Information Top
Gene Symbol:KCNMB1 ( K(VCA)beta,SLO-BETA,hslo-beta )
Gene Full Name: potassium large conductance calcium-activated channel, subfamily M, beta member 1
Band: 5q35.1
Quick LinksEntrez ID:3779; OMIM: 603951; Uniprot ID:KCMB1_HUMAN; ENSEMBL ID: ENSG00000145936; HGNC ID: 6285
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNMB1|3779|nucleotide
ATGGTGAAGAAGCTGGTGATGGCCCAGAAGCGGGGAGAGACACGAGCCCTTTGCCTGGGTGTAACCATGGTGGTGTGTGCCGTCATCACCTACTACATCCTGGTC
ACGACTGTGCTGCCCCTCTACCAGAAAAGCGTGTGGACCCAGGAATCCAAGTGCCACCTGATTGAGACCAACATCAGGGACCAGGAGGAGCTGAAGGGCAAGAAG
GTGCCCCAGTACCCATGCCTGTGGGTCAACGTGTCAGCTGCCGGCAGGTGGGCTGTGCTGTACCACACGGAGGACACTCGGGACCAGAACCAGCAGTGCTCCTAC
ATCCCAGGCAGCGTGGACAATTACCAGACGGCCCGGGCCGACGTGGAGAAGGTCAGAGCCAAATTCCAAGAGCAGCAGGTCTTCTACTGCTTCTCCGCACCTCGG
GGGAACGAAACCAGCGTCCTATTCCAGCGCCTCTACGGGCCCCAGGCCCTCCTCTTCTCCCTCTTCTGGCCCACCTTCCTGCTGACCGGTGGCCTCCTCATTATC
GCCATGGTGAAGAGCAACCAGTACCTGTCCATCCTGGCGGCCCAGAAGTAG





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>KCNMB1|3779|protein
MVKKLVMAQKRGETRALCLGVTMVVCAVITYYILVTTVLPLYQKSVWTQESKCHLIETNIRDQEELKGKKVPQYPCLWVNVSAAGRWAVLYHTEDTRDQNQQCSY
IPGSVDNYQTARADVEKVRAKFQEQQVFYCFSAPRGNETSVLFQRLYGPQALLFSLFWPTFLLTGGLLIIAMVKSNQYLSILAAQK



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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