AutismKB 2.0

Evidence Details for KRT16


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Basic Information Top
Gene Symbol:KRT16 ( CK16,FNEPPK,K16,K1CP,KRT16A,NEPPK )
Gene Full Name: keratin 16
Band: 17q21.2
Quick LinksEntrez ID:3868; OMIM: 148067; Uniprot ID:K1C16_HUMAN; ENSEMBL ID: ENSG00000186832; HGNC ID: 6423
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KRT16|3868|nucleotide
ATGACCACCTGCAGCCGCCAGTTCACCTCCTCCAGCTCCATGAAGGGCTCCTGCGGCATCGGAGGCGGCATCGGGGGCGGCTCCAGCCGCATCTCCTCCGTCCTG
GCCGGAGGGTCCTGCCGTGCCCCCAGCACCTACGGGGGCGGCCTGTCTGTCTCCTCTCGCTTCTCCTCTGGGGGAGCCTGCGGGCTGGGGGGCGGCTATGGCGGT
GGCTTCAGCAGCAGCAGCAGCTTTGGTAGTGGCTTCGGGGGAGGATATGGTGGTGGCCTTGGTGCTGGCTTCGGTGGTGGCTTGGGTGCTGGCTTTGGTGGTGGT
TTTGCTGGTGGTGATGGGCTTCTGGTGGGCAGTGAGAAGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGCTCTGGAGGAG
GCCAACGCCGACCTGGAAGTGAAGATCCGTGACTGGTACCAGAGGCAGCGGCCCAGTGAGATCAAAGACTACAGTCCCTACTTCAAGACCATCGAGGACCTGAGG
AACAAGATCATTGCGGCCACCATTGAGAATGCGCAGCCCATTTTGCAGATTGACAATGCCAGGCTGGCAGCCGATGACTTCAGGACCAAGTATGAGCATGAACTG
GCCCTGCGGCAGACTGTGGAGGCCGACGTCAATGGCCTGCGCCGGGTGTTGGATGAGCTGACCCTGGCCAGGACTGACCTGGAGATGCAGATCGAAGGCCTGAAG
GAGGAGCTGGCCTACCTGAGGAAGAACCACGAGGAGGAGATGCTTGCTCTGAGAGGTCAGACCGGCGGAGATGTGAACGTGGAGATGGATGCTGCACCTGGCGTG
GACCTGAGCCGCATCCTGAATGAGATGCGTGACCAGTACGAGCAGATGGCAGAGAAAAACCGCAGAGACGCTGAGACCTGGTTCCTGAGCAAGACCGAGGAGCTG
AACAAAGAAGTGGCCTCCAACAGCGAACTGGTACAGAGCAGCCGCAGTGAGGTGACGGAGCTCCGGAGGGTGCTCCAGGGCCTGGAGATTGAGCTGCAGTCCCAG
CTCAGCATGAAAGCATCCCTGGAGAACAGCCTGGAGGAGACCAAAGGCCGCTACTGCATGCAGCTGTCCCAGATCCAGGGACTGATTGGCAGTGTGGAGGAGCAG
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>KRT16|3868|protein
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSRFSSGGACGLGGGYGGGFSSSSSFGSGFGGGYGGGLGAGFGGGLGAGFGGG
FAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPSEIKDYSPYFKTIEDLRNKIIAATIENAQPILQIDNARLAADDFRTKYEHEL
ALRQTVEADVNGLRRVLDELTLARTDLEMQIEGLKEELAYLRKNHEEEMLALRGQTGGDVNVEMDAAPGVDLSRILNEMRDQYEQMAEKNRRDAETWFLSKTEEL
NKEVASNSELVQSSRSEVTELRRVLQGLEIELQSQLSMKASLENSLEETKGRYCMQLSQIQGLIGSVEEQLAQLRCEMEQQSQEYQILLDVKTRLEQEIATYRRL
LEGEDAHLSSQQASGQSYSSREVFTSSSSSSSRQTRPILKEQSSSSFSQGQSS
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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 (0) 1 (1) 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 13 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top