AutismKB 2.0

Evidence Details for KCNJ6


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Basic Information Top
Gene Symbol:KCNJ6 ( BIR1,GIRK-2,GIRK2,KATP-2,KATP2,KCNJ7,KIR3.2,MGC126596,hiGIRK2 )
Gene Full Name: potassium inwardly-rectifying channel, subfamily J, member 6
Band: 21q22.13
Quick LinksEntrez ID:3763; OMIM: 600877; Uniprot ID:IRK6_HUMAN; ENSEMBL ID: ENSG00000157542; HGNC ID: 6267
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNJ6|3763|nucleotide
ATGGCCAAGCTGACAGAATCCATGACTAACGTCCTGGAGGGCGACTCCATGGATCAGGACGTCGAAAGCCCAGTGGCCATTCACCAGCCAAAGTTGCCTAAGCAG
GCCAGGGATGACCTGCCAAGACACATCAGCCGAGATCGGACCAAAAGGAAAATCCAGAGGTACGTGAGGAAAGACGGAAAGTGCAATGTTCATCACGGCAACGTG
AGGGAGACCTATCGCTACCTGACCGATATCTTCACCACATTAGTGGACCTGAAGTGGAGATTCAACCTATTGATTTTTGTCATGGTTTACACAGTGACCTGGCTC
TTTTTTGGAATGATCTGGTGGTTGATCGCATACATACGGGGAGACATGGACCACATAGAGGACCCCTCCTGGACTCCTTGTGTTACCAACCTCAACGGGTTCGTC
TCTGCTTTTTTATTCTCAATAGAGACAGAAACCACCATTGGTTATGGCTACCGGGTCATCACAGATAAATGCCCAGAGGGAATTATTCTTCTCTTAATCCAATCT
GTGTTGGGGTCCATTGTCAATGCATTCATGGTGGGATGCATGTTTGTAAAAATCTCTCAACCCAAGAAGAGGGCAGAGACCCTGGTCTTTTCCACCCATGCAGTG
ATCTCCATGCGGGATGGGAAACTGTGCCTGATGTTCCGGGTAGGGGACCTTAGGAATTCCCACATTGTGGAGGCTTCCATCAGAGCCAAGTTGATCAAATCCAAA
CAGACCTCGGAGGGGGAGTTCATCCCGTTGAACCAGACGGATATCAACGTAGGGTATTACACGGGGGATGACCGTCTGTTTCTGGTGTCACCGCTGATCATTAGC
CATGAAATTAACCAACAGAGTCCTTTCTGGGAGATCTCCAAAGCCCAGCTGCCCAAAGAGGAACTGGAAATTGTGGTCATCCTAGAAGGAATGGTGGAAGCCACA
GGGATGACATGCCAAGCTCGAAGCTCCTACATCACCAGTGAGATCCTGTGGGGTTACCGGTTCACACCTGTCCTGACCCTGGAGGACGGGTTCTACGAAGTTGAC
TACAACAGCTTCCATGAGACCTATGAGACCAGCACCCCATCCCTTAGTGCCAAAGAGCTGGCCGAGTTAGCCAGCAGGGCAGAGCTGCCCCTGAGTTGGTCTGTA
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>KCNJ6|3763|protein
MAKLTESMTNVLEGDSMDQDVESPVAIHQPKLPKQARDDLPRHISRDRTKRKIQRYVRKDGKCNVHHGNVRETYRYLTDIFTTLVDLKWRFNLLIFVMVYTVTWL
FFGMIWWLIAYIRGDMDHIEDPSWTPCVTNLNGFVSAFLFSIETETTIGYGYRVITDKCPEGIILLLIQSVLGSIVNAFMVGCMFVKISQPKKRAETLVFSTHAV
ISMRDGKLCLMFRVGDLRNSHIVEASIRAKLIKSKQTSEGEFIPLNQTDINVGYYTGDDRLFLVSPLIISHEINQQSPFWEISKAQLPKEELEIVVILEGMVEAT
GMTCQARSSYITSEILWGYRFTPVLTLEDGFYEVDYNSFHETYETSTPSLSAKELAELASRAELPLSWSVSSKLNQHAELETEEEEKNLEEQTERNGDVANLENE
SKV
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top