AutismKB 2.0

Evidence Details for KCNN4


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Basic Information Top
Gene Symbol:KCNN4 ( IK1,IKCA1,KCA4,KCa3.1,SK4,hIKCa1,hKCa4,hSK4 )
Gene Full Name: potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4
Band: 19q13.31
Quick LinksEntrez ID:3783; OMIM: 602754; Uniprot ID:KCNN4_HUMAN; ENSEMBL ID: ENSG00000104783; HGNC ID: 6293
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNN4|3783|nucleotide
ATGGGCGGGGATCTGGTGCTTGGCCTGGGGGCCTTGAGACGCCGAAAGCGCTTGCTGGAGCAGGAGAAGTCTCTGGCCGGCTGGGCACTGGTGCTGGCAGGAACT
GGCATTGGACTCATGGTGCTGCATGCAGAGATGCTGTGGTTCGGGGGGTGCTCGTGGGCGCTCTACCTGTTCCTGGTTAAATGCACGATCAGCATTTCCACCTTC
TTACTCCTCTGCCTCATCGTGGCCTTTCATGCCAAAGAGGTCCAGCTGTTCATGACCGACAACGGGCTGCGGGACTGGCGCGTGGCGCTGACCGGGCGGCAGGCG
GCGCAGATCGTGCTGGAGCTGGTGGTGTGTGGGCTGCACCCGGCGCCCGTGCGGGGCCCGCCGTGCGTGCAGGATTTAGGGGCGCCGCTGACCTCCCCGCAGCCC
TGGCCGGGATTCCTGGGCCAAGGGGAAGCGCTGCTGTCCCTGGCCATGCTGCTGCGTCTCTACCTGGTGCCCCGCGCCGTGCTCCTGCGCAGCGGCGTCCTGCTC
AACGCTTCCTACCGCAGCATCGGCGCTCTCAATCAAGTCCGCTTCCGCCACTGGTTCGTGGCCAAGCTTTACATGAACACGCACCCTGGCCGCCTGCTGCTCGGC
CTCACGCTTGGCCTCTGGCTGACCACCGCCTGGGTGCTGTCCGTGGCCGAGAGGCAGGCTGTTAATGCCACTGGGCACCTTTCAGACACACTTTGGCTGATCCCC
ATCACATTCCTGACCATCGGCTATGGTGACGTGGTGCCGGGCACCATGTGGGGCAAGATCGTCTGCCTGTGCACTGGAGTCATGGGTGTCTGCTGCACAGCCCTG
CTGGTGGCCGTGGTGGCCCGGAAGCTGGAGTTTAACAAGGCAGAGAAGCACGTGCACAACTTCATGATGGATATCCAGTATACCAAAGAGATGAAGGAGTCCGCT
GCCCGAGTGCTACAAGAAGCCTGGATGTTCTACAAACATACTCGCAGGAAGGAGTCTCATGCTGCCCGCAGGCATCAGCGCAAGCTGCTGGCCGCCATCAACGCG
TTCCGCCAGGTGCGGCTGAAACACCGGAAGCTCCGGGAACAAGTGAACTCCATGGTGGACATCTCCAAGATGCACATGATCCTGTATGACCTGCAGCAGAATCTG
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>KCNN4|3783|protein
MGGDLVLGLGALRRRKRLLEQEKSLAGWALVLAGTGIGLMVLHAEMLWFGGCSWALYLFLVKCTISISTFLLLCLIVAFHAKEVQLFMTDNGLRDWRVALTGRQA
AQIVLELVVCGLHPAPVRGPPCVQDLGAPLTSPQPWPGFLGQGEALLSLAMLLRLYLVPRAVLLRSGVLLNASYRSIGALNQVRFRHWFVAKLYMNTHPGRLLLG
LTLGLWLTTAWVLSVAERQAVNATGHLSDTLWLIPITFLTIGYGDVVPGTMWGKIVCLCTGVMGVCCTALLVAVVARKLEFNKAEKHVHNFMMDIQYTKEMKESA
ARVLQEAWMFYKHTRRKESHAARRHQRKLLAAINAFRQVRLKHRKLREQVNSMVDISKMHMILYDLQQNLSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLP
EPSQQSK
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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