AutismKB 2.0

Evidence Details for KRT82


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KRT82 ( HB2,Hb-2,KRTHB2 )
Gene Full Name: keratin 82
Band: 12q13.13
Quick LinksEntrez ID:3888; OMIM: 601078; Uniprot ID:KRT82_HUMAN; ENSEMBL ID: ENSG00000161850; HGNC ID: 6459
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KRT82|3888|nucleotide
ATGTCGTACCACTCTTTCCAGCCAGGCTCCAGGTGTGGCAGTCAGAGTTTCAGCTCATACTCGGCTGTCATGCCCCGGATGGTCACCCACTATGCAGTGAGCAAG
GGGCCATGCCGGCCCGGGGGTGGTAGGGGCCTCCGAGCTCTGGGCTGCCTTGGCTCACGGAGCCTGTGCAACGTGGGCTTTGGGAGGCCCCGGGTAGCCTCCAGG
TGTGGAGGTACCCTGCCTGGCTTCGGGTACCGACTGGGAGCCACCTGTGGGCCTTCTGCCTGCATCACCCCTGTCACCATCAATGAGAGCCTGCTGGTCCCACTG
GCACTGGAGATAGACCCGACTGTGCAGAGGGTAAAGAGGGATGAGAAGGAGCAGATCAAGTGCCTCAACAACCGTTTCGCATCTTTCATCAACAAGGTCCGTTTC
CTGGAGCAGAAGAACAAGCTGCTGGAGACCAAGTGGAACTTCATGCAGCAGCAGAGGTGCTGCCAGACCAACATCGAGCCCATCTTCGAGGGCTATATCAGCGCC
CTTCGGCGGCAGCTGGACTGTGTGTCCGGGGACCGCGTGAGGCTAGAGTCAGAGCTCTGCAGCCTCCAGGCTGCACTGGAGGGCTACAAGAAAAAATACGAAGAG
GAGCTCTCCCTGCGTCCCTGTGTTGAGAATGAGTTTGTTGCCTTGAAGAAGGACGTGGACACAGCCTTCCTGATGAAGGCTGACCTGGAGACCAACGCAGAGGCA
CTCGTGCAGGAGATCGACTTCCTGAAAAGCCTGTATGAGGAGGAGATCTGCCTGCTCCAGTCTCAGATCTCTGAGACCTCGGTCATTGTGAAGATGGACAACAGC
CGGGAGCTGGACGTGGACGGCATCATCGCTGAGATCAAGGCGCAGTATGACGACATCGCCAGCCGCAGCAAAGCCGAAGCAGAGGCCTGGTACCAGTGCCGGTAT
GAGGAGCTGAGAGTCACAGCTGGGAACCACTGTGACAACCTCCGCAACCGTAAGAACGAGATCCTGGAAATGAATAAACTGATCCAGCGGCTGCAGCAAGAAACC
GAGAATGTCAAAGCCCAGCGCTGCAAACTTGAGGGTGCCATAGCTGAGGCAGAGCAGCAGGGCGAGGCGGCTCTCAATGATGCCAAGTGCAAGCTGGCAGGGCTG
Show »

>KRT82|3888|protein
MSYHSFQPGSRCGSQSFSSYSAVMPRMVTHYAVSKGPCRPGGGRGLRALGCLGSRSLCNVGFGRPRVASRCGGTLPGFGYRLGATCGPSACITPVTINESLLVPL
ALEIDPTVQRVKRDEKEQIKCLNNRFASFINKVRFLEQKNKLLETKWNFMQQQRCCQTNIEPIFEGYISALRRQLDCVSGDRVRLESELCSLQAALEGYKKKYEE
ELSLRPCVENEFVALKKDVDTAFLMKADLETNAEALVQEIDFLKSLYEEEICLLQSQISETSVIVKMDNSRELDVDGIIAEIKAQYDDIASRSKAEAEAWYQCRY
EELRVTAGNHCDNLRNRKNEILEMNKLIQRLQQETENVKAQRCKLEGAIAEAEQQGEAALNDAKCKLAGLEEALQKAKQDMACLLKEYQEVMNSKLGLDIEIATY
RRLLEGEEHRLCEGIGPVNISVSSSKGAFLYEPCGVSTPVLSTGVLRSNGGCSIVGTGELYVPCEPQGLLSCGSGRKSSMTLGAGGSSPSHKH
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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