AutismKB 2.0

Evidence Details for KRT85


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Basic Information Top
Gene Symbol:KRT85 ( HB5,Hb-5,KRTHB5,hHb5 )
Gene Full Name: keratin 85
Band: 12q13.13
Quick LinksEntrez ID:3891; OMIM: 602767; Uniprot ID:KRT85_HUMAN; ENSEMBL ID: ENSG00000135443; HGNC ID: 6462
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KRT85|3891|nucleotide
ATGTCGTGCCGCTCCTACAGGATCAGCTCAGGATGCGGGGTCACCAGGAACTTCAGCTCCTGCTCAGCTGTGGCCCCCAAAACTGGCAACCGCTGCTGCATCAGC
GCCGCCCCCTACCGAGGGGTGTCCTGCTACCGAGGGCTGACGGGCTTCGGCAGCCGCAGCCTCTGCAACCTGGGCTCCTGCGGGCCCCGGATAGCTGTAGGTGGC
TTCCGAGCCGGCTCCTGCGGACGCAGCTTCGGCTACCGCTCCGGGGGCGTGTGCGGACCCAGCCCCCCATGCATCACTACCGTGTCGGTCAACGAGAGCCTCCTC
ACGCCCCTCAACCTGGAGATCGACCCCAACGCACAGTGCGTGAAGCAGGAGGAGAAGGAGCAGATCAAGTCCCTCAACAGCAGGTTCGCGGCCTTCATCGACAAG
GTGCGCTTCCTGGAGCAGCAGAACAAGCTGCTGGAGACCAAGTGGCAGTTCTACCAGAACCAGCGCTGCTGCGAGAGCAACCTGGAGCCACTGTTCAGTGGCTAC
ATCGAGACTCTGCGGCGGGAGGCCGAGTGCGTGGAGGCCGACAGCGGGAGGCTGGCCTCAGAGCTCAACCATGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAAG
TATGAAGAGGAGGTGGCCCTGAGAGCCACAGCAGAGAATGAGTTTGTCGTTCTAAAGAAGGACGTGGACTGTGCCTACCTGCGGAAATCAGACCTGGAGGCCAAT
GTGGAGGCCCTGGTGGAGGAGTCTAGCTTCCTGAGGCGCCTCTATGAAGAGGAGATCCGCGTTCTCCAAGCCCACATCTCAGACACCTCGGTCATAGTCAAGATG
GACAACAGCCGAGACCTGAACATGGACTGCATCATCGCTGAGATCAAGGCTCAGTATGACGATGTTGCCAGCCGCAGCCGGGCCGAGGCTGAGTCCTGGTACCGT
AGCAAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCATGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACG
GCCGAGATTGAGAATGCCAAGTGCCAGCGTGCCAAGCTGGAGGCTGCTGTGGCTGAGGCAGAGCAGCAGGGTGAGGCGGCCCTCAGCGATGCCCGCTGCAAGCTG
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>KRT85|3891|protein
MSCRSYRISSGCGVTRNFSSCSAVAPKTGNRCCISAAPYRGVSCYRGLTGFGSRSLCNLGSCGPRIAVGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLL
TPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKWQFYQNQRCCESNLEPLFSGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKK
YEEEVALRATAENEFVVLKKDVDCAYLRKSDLEANVEALVEESSFLRRLYEEEIRVLQAHISDTSVIVKMDNSRDLNMDCIIAEIKAQYDDVASRSRAEAESWYR
SKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEIENAKCQRAKLEAAVAEAEQQGEAALSDARCKLAELEGALQKAKQDMACLLKEYQEVMNSKLGLDIEI
ATYRRLLEGEEHRLCEGVGSVNVCVSSSRGGVSCGGLSYSTTPGRQITSGPSAIGGSITVVAPDSCAPCQPRSSSFSCGSSRSVRFA
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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 (2) 0 (0) 0 (0) 0 (0) 2 (5)
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