AutismKB 2.0

Evidence Details for KCNT1


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Basic Information Top
Gene Symbol:KCNT1 ( FLJ41282,KCa4.1,SLACK,bA100C15.2 )
Gene Full Name: potassium channel, subfamily T, member 1
Band: 9q34.3
Quick LinksEntrez ID:57582; OMIM: 608167; Uniprot ID:B3KXF7_HUMAN; ENSEMBL ID: ENSG00000107147; HGNC ID: 18865
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNT1|57582|nucleotide
ATGCCACTCCCTGACGGGGCGCGGACCCCGGGGGGCGTCTGCCGGGAGGCGCGCGGCGGGGGCTACACCAACCGGACCTTCGAGTTTGACGACGGCCAATGCGCC
CCCAGGCGGCCCTGCGCGGGGGACGGCGCGCTCCTGGACACCGCCGGCTTCAAGATGAGCGACCTGGACTCCGAGGTGCTGCCCTTGCCGCCGCGCTACCGCTTC
CGGGACCTGCTGCTGGGCGACCCGTCCTTCCAGAACGACGACAGGGTCCAGGTGGAGTTCTACGTCAACGAGAACACCTTCAAGGAGCGGCTCAAGCTGTTCTTC
ATCAAAAACCAAAGATCGAGCCTGAGGATCCGGCTGTTCAACTTCTCCCTGAAGCTGCTCACCTGCCTGCTCTACATTGTGCGCGTCCTGCTCGATGACCCGGCC
CTGGGCATCGGATGCTGGGGCTGCCCAAAGCAGAACTACTCCTTCAATGACTCGTCCTCCGAGATCAACTGGGCTCCTATTCTGTGGGTGGAGAGAAAGATGACA
CTGTGGGCGATCCAGGTCATCGTGGCCATAATAAGCTTCCTGGAGACGATGCTTCTCATCTACCTCAGCTACAAAGGCAACATCTGGGAGCAGATCTTCCGCGTG
TCCTTCGTCCTGGAGATGATCAACACTCTGCCCTTCATCATCACGATCTTCTGGCCGCCGCTGCGGAACCTGTTCATCCCCGTCTTTCTGAACTGCTGGCTGGCC
AAGCACGCGCTGGAAAACATGATTAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGC
CTCGTTTTCACGGGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTG
GGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGTTCGAGGAGCTCGTC
TACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTT
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>KCNT1|57582|protein
MPLPDGARTPGGVCREARGGGYTNRTFEFDDGQCAPRRPCAGDGALLDTAGFKMSDLDSEVLPLPPRYRFRDLLLGDPSFQNDDRVQVEFYVNENTFKERLKLFF
IKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDPALGIGCWGCPKQNYSFNDSSSEINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSYKGNIWEQIFRV
SFVLEMINTLPFIITIFWPPLRNLFIPVFLNCWLAKHALENMINDFHRAILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENLSLLTSFYFCIVTFSTV
GYGDVTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSRHRAQTEKHVVLCVSSLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVL
QIPLWSQRVIYLQGSALKDQDLMRAKMDNGEACFILSSRNEVDRTAADHQTILRAWAVKDFAPNCPLYVQILKPENKFHVKFADHVVCEEECKYAMLALNCICPA
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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 (2) 1 (3) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 3 (7)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top