AutismKB 2.0

Evidence Details for KRT80


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Basic Information Top
Gene Symbol:KRT80 ( KB20 )
Gene Full Name: keratin 80
Band: 12q13.13
Quick LinksEntrez ID:144501; OMIM: 611161; Uniprot ID:K2C80_HUMAN; ENSEMBL ID: ENSG00000167767; HGNC ID: 27056
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KRT80|144501|nucleotide
ATGGCCTGCCGCTCCTGCGTGGTTGGCTTCAGCAGCCTCAGCAGCTGTGAGGTGACCCCGGTGGGCAGCCCCCGGCCTGGAACCTCAGGATGGGACAGCTGCAGG
GCCCCCGGGCCGGGCTTCAGCTCCCGCAGCCTCACAGGCTGCTGGTCGGCTGGCACTATCTCCAAGGTGACTGTGAACCCCGGCCTGCTGGTGCCCCTGGATGTC
AAGTTGGACCCCGCTGTTCAGCAGCTGAAGAACCAGGAGAAGGAGGAGATGAAGGCCCTCAATGATAAATTTGCCTCCCTAATTGGCAAGGTGCAAGCCCTGGAA
CAGCGCAACCAGCTGCTGGAGACACGCTGGAGCTTCCTGCAGGGCCAGGACTCAGCCATCTTCGACCTCGGGCATCTCTATGAGGAATATCAGGGCCGGCTGCAG
GAGGAACTGCGCAAAGTGAGCCAGGAGCGGGGGCAGCTGGAGGCCAACCTGCTGCAGGTGCTGGAGAAGGTTGAGGAGTTTCGAATCAGGTATGAGGATGAGATC
TCCAAGCGCACAGACATGGAGTTCACCTTTGTTCAGCTGAAGAAGGACCTGGATGCAGAGTGTCTTCATCGGACTGAACTGGAAACCAAGTTAAAAAGCCTGGAG
AGCTTCGTGGAGTTGATGAAAACCATCTATGAGCAGGAGCTGAAGGACCTGGCAGCACAGGTGAAGGATGTGTCGGTGACCGTCGGCATGGACAGCCGCTGCCAC
ATCGACCTGAGCGGCATCGTGGAGGAGGTGAAGGCCCAGTATGACGCCGTCGCGGCTCGCAGCCTGGAGGAGGCCGAGGCATACTCTCGGAGCCAGCTGGAGGAG
CAGGCCGCCCGCTCGGCCGAGTATGGGAGCAGCCTCCAGAGCAGCCGCAGCGAGATCGCGGATCTCAATGTGCGCATCCAGAAGCTGCGGTCCCAGATCCTCTCT
GTCAAGAGCCATTGCCTGAAACTGGAGGAGAACATCAAGACAGCTGAGGAGCAGGGTGAGCTGGCCTTCCAGGATGCCAAGACCAAGCTGGCCCAGCTGGAGGCC
GCCCTGCAGCAGGCCAAGCAGGACATGGCGCGGCAGCTGCGCAAGTACCAGGAGCTGATGAACGTCAAGCTGGCCCTGGACATCGAGATCGCCACCTACAGGAAG
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>KRT80|144501|protein
MACRSCVVGFSSLSSCEVTPVGSPRPGTSGWDSCRAPGPGFSSRSLTGCWSAGTISKVTVNPGLLVPLDVKLDPAVQQLKNQEKEEMKALNDKFASLIGKVQALE
QRNQLLETRWSFLQGQDSAIFDLGHLYEEYQGRLQEELRKVSQERGQLEANLLQVLEKVEEFRIRYEDEISKRTDMEFTFVQLKKDLDAECLHRTELETKLKSLE
SFVELMKTIYEQELKDLAAQVKDVSVTVGMDSRCHIDLSGIVEEVKAQYDAVAARSLEEAEAYSRSQLEEQAARSAEYGSSLQSSRSEIADLNVRIQKLRSQILS
VKSHCLKLEENIKTAEEQGELAFQDAKTKLAQLEAALQQAKQDMARQLRKYQELMNVKLALDIEIATYRKLVEGEEGRMDSPSATVVSAVQSRCKTAPSLPYPLC
SL
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top