AutismKB 2.0

Evidence Details for KRT7


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Basic Information Top
Gene Symbol:KRT7 ( CK7,K2C7,K7,MGC129731,MGC3625,SCL )
Gene Full Name: keratin 7
Band: 12q13.13
Quick LinksEntrez ID:3855; OMIM: 148059; Uniprot ID:K2C7_HUMAN; ENSEMBL ID: ENSG00000135480; HGNC ID: 6445
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KRT7|3855|nucleotide
ATGTCCATCCACTTCAGCTCCCCGGTATTCACCTCGCGCTCAGCCGCCTTCTCGGGCCGCGGCGCCCAGGTGCGCCTGAGCTCCGCTCGCCCCGGCGGCCTTGGC
AGCAGCAGCCTCTACGGCCTCGGCGCCTCACGGCCGCGCGTGGCCGTGCGCTCTGCCTATGGGGGCCCGGTGGGCGCCGGCATCCGCGAGGTCACCATTAACCAG
AGCCTGCTGGCCCCGCTGCGGCTGGACGCCGACCCCTCCCTCCAGCGGGTGCGCCAGGAGGAGAGCGAGCAGATCAAGACCCTCAACAACAAGTTTGCCTCCTTC
ATCGACAAGGTGCGGTTTCTGGAGCAGCAGAACAAGCTGCTGGAGACCAAGTGGACGCTGCTGCAGGAGCAGAAGTCGGCCAAGAGCAGCCGCCTCCCAGACATC
TTTGAGGCCCAGATTGCTGGCCTTCGGGGTCAGCTTGAGGCACTGCAGGTGGATGGGGGCCGCCTGGAGGCGGAGCTGCGGAGCATGCAGGATGTGGTGGAGGAC
TTCAAGAATAAGTACGAAGATGAAATTAACCACCGCACAGCTGCTGAGAATGAGTTTGTGGTGCTGAAGAAGGATGTGGATGCTGCCTACATGAGCAAGGTGGAG
CTGGAGGCCAAGGTGGATGCCCTGAATGATGAGATCAACTTCCTCAGGACCCTCAATGAGACGGAGTTGACAGAGCTGCAGTCCCAGATCTCCGACACATCTGTG
GTGCTGTCCATGGACAACAGTCGCTCCCTGGACCTGGACGGCATCATCGCTGAGGTCAAGGCGCAGTATGAGGAGATGGCCAAATGCAGCCGGGCTGAGGCTGAA
GCCTGGTACCAGACCAAGTTTGAGACCCTCCAGGCCCAGGCTGGGAAGCATGGGGACGACCTCCGGAATACCCGGAATGAGATTTCAGAGATGAACCGGGCCATC
CAGAGGCTGCAGGCTGAGATCGACAACATCAAGAACCAGCGTGCCAAGTTGGAGGCCGCCATTGCCGAGGCTGAGGAGCGTGGGGAGCTGGCGCTCAAGGATGCT
CGTGCCAAGCAGGAGGAGCTGGAAGCCGCCCTGCAGCGGGGCAAGCAGGATATGGCACGGCAGCTGCGTGAGTACCAGGAACTCATGAGCGTGAAGCTGGCCCTG
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>KRT7|3855|protein
MSIHFSSPVFTSRSAAFSGRGAQVRLSSARPGGLGSSSLYGLGASRPRVAVRSAYGGPVGAGIREVTINQSLLAPLRLDADPSLQRVRQEESEQIKTLNNKFASF
IDKVRFLEQQNKLLETKWTLLQEQKSAKSSRLPDIFEAQIAGLRGQLEALQVDGGRLEAELRSMQDVVEDFKNKYEDEINHRTAAENEFVVLKKDVDAAYMSKVE
LEAKVDALNDEINFLRTLNETELTELQSQISDTSVVLSMDNSRSLDLDGIIAEVKAQYEEMAKCSRAEAEAWYQTKFETLQAQAGKHGDDLRNTRNEISEMNRAI
QRLQAEIDNIKNQRAKLEAAIAEAEERGELALKDARAKQEELEAALQRGKQDMARQLREYQELMSVKLALDIEIATYRKLLEGEESRLAGDGVGAVNISVMNSTG
GSSSGGGIGLTLGGTMGSNALSFSSSAGPGLLKAYSIRTASASRRSARD
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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 (1) 0 (0) 0 (0) 0 (0) 12 (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