AutismKB 2.0

Evidence Details for KRT71


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Basic Information Top
Gene Symbol:KRT71 ( K6IRS1,KRT6IRS,KRT6IRS1,MGC119390,MGC119391 )
Gene Full Name: keratin 71
Band: 12q13.13
Quick LinksEntrez ID:112802; OMIM: 608245; Uniprot ID:K2C71_HUMAN; ENSEMBL ID: ENSG00000139648; HGNC ID: 28927
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KRT71|112802|nucleotide
ATGAGCCGCCAATTCACCTGCAAGTCGGGAGCTGCCGCCAAGGGGGGCTTCAGTGGCTGCTCAGCTGTGCTCTCAGGGGGCAGCTCATCCTCCTTCCGGGCAGGG
AGCAAAGGGCTCAGTGGGGGCTTTGGCAGCCGGAGCCTCTACAGCCTGGGGGGTGTCCGGAGCCTCAATGTGGCCAGTGGCAGCGGGAAGAGTGGAGGCTATGGA
TTTGGCCGGGGCCGGGCCAGTGGCTTTGCTGGAAGCATGTTTGGCAGTGTGGCCCTGGGGCCTGTGTGCCCAACTGTATGCCCACCTGGAGGCATCCACCAGGTT
ACCGTCAATGAGAGCCTCCTGGCCCCCCTCAACGTGGAGCTGGACCCCGAGATCCAGAAAGTGCGTGCCCAGGAGCGAGAGCAGATCAAGGCTCTGAACAACAAG
TTCGCCTCCTTCATCGACAAGGTGCGGTTCCTGGAGCAGCAGAACCAGGTACTGGAGACCAAGTGGGAGCTGCTGCAGCAGCTGGACCTGAACAACTGCAAGAAC
AACCTGGAGCCCATCCTCGAGGGCTACATCAGCAACCTGCGGAAGCAGCTGGAGACGCTGTCTGGGGACAGGGTGAGGCTGGACTCGGAGCTGAGGAATGTGCGG
GACGTAGTGGAGGACTACAAGAAGAGGTATGAGGAGGAAATCAACAAGCGGACAGCAGCAGAGAACGAGTTTGTGCTGCTCAAGAAGGATGTGGATGCTGCTTAC
GCCAATAAGGTGGAACTGCAGGCCAAGGTGGAATCCATGGACCAGGAGATCAAGTTCTTCAGGTGTCTCTTTGAAGCCGAGATCACTCAGATCCAGTCCCACATC
AGTGACATGTCTGTCATCCTGTCCATGGACAACAACCGGAACCTAGACCTGGACAGCATCATTGACGAAGTCCGCACCCAGTATGAGGAGATTGCCTTGAAGAGT
AAGGCCGAGGCTGAGGCCCTGTACCAGACCAAGTTCCAAGAGCTTCAGCTGGCAGCTGGCAGGCATGGGGACGACCTCAAAAACACCAAGAATGAAATCTCGGAG
CTCACTCGGCTCATCCAGAGAATCCGCTCAGAGATCGAGAACGTGAAGAAGCAGGCTTCCAACCTGGAGACAGCCATCGCTGATGCTGAGCAGCGGGGAGACAAC
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>KRT71|112802|protein
MSRQFTCKSGAAAKGGFSGCSAVLSGGSSSSFRAGSKGLSGGFGSRSLYSLGGVRSLNVASGSGKSGGYGFGRGRASGFAGSMFGSVALGPVCPTVCPPGGIHQV
TVNESLLAPLNVELDPEIQKVRAQEREQIKALNNKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKNNLEPILEGYISNLRKQLETLSGDRVRLDSELRNVR
DVVEDYKKRYEEEINKRTAAENEFVLLKKDVDAAYANKVELQAKVESMDQEIKFFRCLFEAEITQIQSHISDMSVILSMDNNRNLDLDSIIDEVRTQYEEIALKS
KAEAEALYQTKFQELQLAAGRHGDDLKNTKNEISELTRLIQRIRSEIENVKKQASNLETAIADAEQRGDNALKDARAKLDELEGALHQAKEELARMLREYQELMS
LKLALDMEIATYRKLLESEECRMSGEFPSPVSISIISSTSGGSVYGFRPSMVSGGYVANSSNCISGVCSVRGGEGRSRGSANDYKDTLGKGSSLSAPSKKTSR
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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) 1 (2) 0 (0) 0 (0) 0 (0) 12 (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
Linkage Studies Top