AutismKB 2.0

Evidence Details for KRT83


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Basic Information Top
Gene Symbol:KRT83 ( HB3,Hb-3,KRTHB3,MGC141663 )
Gene Full Name: keratin 83
Band: 12q13.13
Quick LinksEntrez ID:3889; OMIM: 602765; Uniprot ID:KRT83_HUMAN; ENSEMBL ID: ENSG00000170523; HGNC ID: 6460
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KRT83|3889|nucleotide
ATGACCTGTGGCTTCAACTCCATAGGCTGTGGGTTCCGCCCTGGAAACTTCAGCTGTGTCTCTGCCTGCGGGCCCCGGCCAAGCCGCTGCTGCATCACCGCCGCC
CCCTACCGCGGCATCTCCTGCTACCGCGGCCTCACCGGGGGCTTTGGCAGCCACAGCGTGTGCGGGGGCTTCCGCGCCGGCTCCTGCGGACGCAGCTTCGGCTAC
CGCTCCGGGGGCGTGTGCGGACCCAGCCCCCCATGCATCACCACCGTGTCGGTCAACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATAGACCCCAACGCGCAG
TGCGTGAAGCAGGAGGAGAAGGAGCAGATCAAGTCCCTCAACAGCAGATTCGCGGCCTTCATCGACAAGGTGCGCTTCCTGGAGCAGCAGAACAAGCTGCTGGAG
ACAAAGCTGCAGTTCTACCAAAACCGCGAGTGCTGCCAGAGTAACCTGGAGCCCCTGTTTGCTGGCTACATCGAGACTCTGCGGCGGGAGGCCGAGTGCGTGGAG
GCTGACAGTGGGAGGCTGGCCTCAGAGCTCAACCACGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAAGTATGAAGAAGAAGTAGCACTTCGAGCCACAGCAGAG
AACGAGTTTGTGGCTCTAAAGAAGGATGTGGACTGCGCCTACCTCCGCAAGTCAGACCTGGAGGCCAACGTGGAGGCCCTGATCCAGGAGATTGACTTCCTGAGG
CGGCTGTACGAGGAGGAGATCCGCATTCTCCAATCCCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCGTT
GCCGAGATCAAGGCACAGTATGATGACATTGCCACCCGTAGCCGGGCTGAGGCCGAGTCCTGGTATCGCAGCAAGTGTGAGGAGATGAAGGCCACAGTGATCAGG
CACGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACAGCCGAGGTGGAGAATGCCAAGTGCCAGAACTCCAAG
CTGGAAGCTGCGGTGGCCCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGTGATGCCCGCTGCAAGCTGGCCGAGCTGGAGGGCGCCCTGCAGAAGGCCAAGCAA
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>KRT83|3889|protein
MTCGFNSIGCGFRPGNFSCVSACGPRPSRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQ
CVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFAGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVALRATAE
NEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLRRLYEEEIRILQSHISDTSVVVKLDNSRDLNMDCIVAEIKAQYDDIATRSRAEAESWYRSKCEEMKATVIR
HGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQ
RLCEGVEAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCNGNLVVSTGLCKPCGQLNTTCGGGSCGQGRH
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (4)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top