AutismKB 2.0

Evidence Details for KCNH8


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Basic Information Top
Gene Symbol:KCNH8 ( ELK,ELK1,Kv12.1,elk3 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 8
Band: 3p24.3
Quick LinksEntrez ID:131096; OMIM: 608260; Uniprot ID:KCNH8_HUMAN; ENSEMBL ID: ENSG00000183960; HGNC ID: 18864
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNH8|131096|nucleotide
ATGCCGGTTATGAAAGGATTACTGGCGCCGCAAAACACCTTCCTGGACACCATCGCCACCCGTTTTGACGGAACACATAGCAACTTCATCCTTGCCAATGCCCAG
GTGGCTAAGGGTTTCCCCATAGTCTACTGTTCCGATGGCTTCTGCGAGCTTGCTGGATTTGCCCGAACTGAAGTCATGCAGAAGAGTTGTAGCTGCAAGTTCTTA
TTTGGGGTTGAAACCAATGAGCAACTGATGCTTCAAATAGAAAAGTCACTGGAGGAGAAAACAGAATTCAAAGGAGAAATTATGTTCTACAAGAAAAACGGGTCT
CCATTTTGGTGCCTACTGGATATTGTTCCCATAAAGAATGAAAAAGGAGATGTAGTACTTTTTCTGGCCTCGTTCAAAGATATAACAGATACAAAAGTGAAGATT
ACTCCAGAAGATAAAAAAGAAGACAAAGTCAAAGGAAGATCAAGAGCAGGGACCCACTTTGACTCAGCCCGGAGACGGAGTCGAGCAGTCCTTTATCACATCTCT
GGGCACCTGCAAAGAAGAGAAAAGAACAAATTGAAAATAAATAACAATGTTTTTGTAGATAAACCAGCATTTCCGGAGTATAAAGTTTCTGATGCAAAAAAGTCC
AAATTCATACTTCTGCATTTTAGCACTTTTAAAGCTGGCTGGGACTGGCTTATTTTGTTGGCAACGTTTTATGTTGCTGTGACTGTACCTTACAACGTTTGCTTT
ATTGGCAATGACGACCTGTCCACAACTCGGAGCACAACCGTCAGTGACATTGCAGTGGAGATTCTTTTTATTATAGATATTATTTTAAATTTCCGAACAACTTAT
GTCAGCAAGTCTGGCCAAGTTATCTTTGAAGCAAGATCAATTTGCATCCACTATGTCACAACCTGGTTCATCATTGATTTAATCGCTGCCCTGCCTTTTGATCTT
CTGTATGCTTTCAACGTCACAGTGGTGTCTCTCGTGCATCTTCTAAAGACAGTGCGCCTCTTGCGTCTTTTGCGTCTGCTGCAGAAGTTAGACCGCTATTCCCAA
CACAGTACTATCGTCCTGACTCTGCTCATGTCCATGTTTGCACTCCTTGCACACTGGATGGCGTGTATCTGGTACGTCATTGGAAAAATGGAGAGGGAAGACAAC
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>KCNH8|131096|protein
MPVMKGLLAPQNTFLDTIATRFDGTHSNFILANAQVAKGFPIVYCSDGFCELAGFARTEVMQKSCSCKFLFGVETNEQLMLQIEKSLEEKTEFKGEIMFYKKNGS
PFWCLLDIVPIKNEKGDVVLFLASFKDITDTKVKITPEDKKEDKVKGRSRAGTHFDSARRRSRAVLYHISGHLQRREKNKLKINNNVFVDKPAFPEYKVSDAKKS
KFILLHFSTFKAGWDWLILLATFYVAVTVPYNVCFIGNDDLSTTRSTTVSDIAVEILFIIDIILNFRTTYVSKSGQVIFEARSICIHYVTTWFIIDLIAALPFDL
LYAFNVTVVSLVHLLKTVRLLRLLRLLQKLDRYSQHSTIVLTLLMSMFALLAHWMACIWYVIGKMEREDNSLLKWEVGWLHELGKRLESPYYGNNTLGGPSIRSA
YIAALYFTLSSLTSVGFGNVSANTDAEKIFSICTMLIGALMHALVFGNVTAIIQRMYSRWSLYHTRTKDLKDFIRVHHLPQQLKQRMLEYFQTTWSVNNGIDSNE
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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) 1 (2) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top