AutismKB 2.0

Evidence Details for KRT84


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Basic Information Top
Gene Symbol:KRT84 ( HB4,KRTHB4 )
Gene Full Name: keratin 84
Band: 12q13.13
Quick LinksEntrez ID:3890; OMIM: 602766; Uniprot ID:KRT84_HUMAN; ENSEMBL ID: ENSG00000161849; HGNC ID: 6461
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KRT84|3890|nucleotide
ATGTCTTGCCGCTCCTACCGAGTCAGCTCTGGTCACCGGGTGGGCAACTTCAGCTCTTGTTCAGCAATGACACCACAGAACCTGAATCGCTTCCGGGCCAACTCT
GTCTCCTGTTGGAGTGGGCCTGGATTCCGGGGCCTTGGCAGCTTTGGTAGTCGGAGTGTCATCACCTTTGGATCGTACTCACCCCGGATAGCAGCTGTAGGCTCT
CGGCCCATCCACTGTGGAGTCCGCTTTGGTGCTGGCTGTGGGATGGGTTTTGGTGATGGGAGAGGTGTTGGTCTGGGGCCTAGGGCTGACAGCTGTGTTGGTCTG
GGCTTTGGAGCTGGCAGTGGCATTGGCTATGGCTTTGGTGGCCCTGGCTTTGGTTACAGAGTTGGAGGGGTTGGAGTCCCAGCAGCCCCATCTATCACAGCTGTG
ACTGTGAACAAGAGCCTACTGACCCCCCTCAACCTGGAGATTGACCCCAATGCCCAGAGGGTGAAGAAGGATGAGAAGGAGCAAATCAAGACCCTCAACAACAAG
TTTGCCTCCTTCATTGACAAGGTTCGGTTCCTAGAGCAGCAGAATAAGCTCCTAGAGACCAAGTGGAGCTTCCTCCAAGAGCAGAAATGTATCAGGAGCAATCTG
GAGCCACTCTTCGAGAGCTACATCACCAACCTGCGGAGGCAGTTGGAGGTGCTGGTCAGTGATCAGGCCCGGCTCCAGGCTGAGAGGAACCACCTGCAGGATGTC
CTAGAGGGCTTCAAGAAGAAGTATGAAGAGGAAGTGGTATGTCGGGCCAATGCTGAGAATGAGTTTGTGGCTCTGAAGAAGGATGTGGATGCAGCTTTCATGAAC
AAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGAAATCCAGTTGCTGCAGTCGCACATCTCAGAG
ACGTCGGTCATTGTGAAGATGGACAACAGCCGTGACCTGAACCTTGATGGGATCATTGCTGAGGTCAAGGCCCAGTATGAGGAGGTGGCCAGGCGCAGCCGGGCT
GATGCTGAGGCCTGGTACCAGACCAAGTATGAAGAGATGCAGGTGACAGCTGGCCAACACTGTGACAACCTGCGCAACATACGGAACGAGATCAACGAACTGACC
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>KRT84|3890|protein
MSCRSYRVSSGHRVGNFSSCSAMTPQNLNRFRANSVSCWSGPGFRGLGSFGSRSVITFGSYSPRIAAVGSRPIHCGVRFGAGCGMGFGDGRGVGLGPRADSCVGL
GFGAGSGIGYGFGGPGFGYRVGGVGVPAAPSITAVTVNKSLLTPLNLEIDPNAQRVKKDEKEQIKTLNNKFASFIDKVRFLEQQNKLLETKWSFLQEQKCIRSNL
EPLFESYITNLRRQLEVLVSDQARLQAERNHLQDVLEGFKKKYEEEVVCRANAENEFVALKKDVDAAFMNKSDLEANVDTLTQEIDFLKTLYMEEIQLLQSHISE
TSVIVKMDNSRDLNLDGIIAEVKAQYEEVARRSRADAEAWYQTKYEEMQVTAGQHCDNLRNIRNEINELTRLIQRLKAEIEHAKAQRAKLEAAVAEAEQQGEATL
SDAKCKLADLECALQQAKQDMARQLCEYQELMNAKLGLDIEIATYRRLLEGEESRLCEGVGPVNISVSSSRGGLVCGPEPLVAGSTLSRGGVTFSGSSSVCATSG
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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 (0) 0 (1) 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