AutismKB 2.0

Evidence Details for PTK7


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Basic Information Top
Gene Symbol:PTK7 ( CCK4 )
Gene Full Name: PTK7 protein tyrosine kinase 7
Band: 6p21.1
Quick LinksEntrez ID:5754; OMIM: 601890; Uniprot ID:PTK7_HUMAN; ENSEMBL ID: ENSG00000112655; HGNC ID: 9618
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTK7|5754|nucleotide
ATGGGAGCTGCGCGGGGATCCCCGGCCAGACCCCGCCGGTTGCCTCTGCTCAGCGTCCTGCTGCTGCCGCTGCTGGGCGGTACCCAGACAGCCATTGTCTTCATC
AAGCAGCCGTCCTCCCAGGATGCACTGCAGGGGCGCCGGGCGCTGCTTCGCTGTGAGGTTGAGGCTCCGGGCCCGGTACATGTGTACTGGCTGCTCGATGGGGCC
CCTGTCCAGGACACGGAGCGGCGTTTCGCCCAGGGCAGCAGCCTGAGCTTTGCAGCTGTGGACCGGCTGCAGGACTCTGGCACCTTCCAGTGTGTGGCTCGGGAT
GATGTCACTGGAGAAGAAGCCCGCAGTGCCAACGCCTCCTTCAACATCAAATGGATTGAGGCAGGTCCTGTGGTCCTGAAGCATCCAGCCTCGGAAGCTGAGATC
CAGCCACAGACCCAGGTCACACTTCGTTGCCACATTGATGGGCACCCTCGGCCCACCTACCAATGGTTCCGAGATGGGACCCCCCTTTCTGATGGTCAGAGCAAC
CACACAGTCAGCAGCAAGGAGCGGAACCTGACGCTCCGGCCAGCTGGTCCTGAGCATAGTGGGCTGTATTCCTGCTGCGCCCACAGTGCTTTTGGCCAGGCTTGC
AGCAGCCAGAACTTCACCTTGAGCATTGCTGATGAAAGCTTTGCCAGGGTGGTGCTGGCACCCCAGGACGTGGTAGTAGCGAGGTATGAGGAGGCCATGTTCCAT
TGCCAGTTCTCAGCCCAGCCACCCCCGAGCCTGCAGTGGCTCTTTGAGGATGAGACTCCCATCACTAACCGCAGTCGCCCCCCACACCTCCGCAGAGCCACAGTG
TTTGCCAACGGGTCTCTGCTGCTGACCCAGGTCCGGCCACGCAATGCAGGGATCTACCGCTGCATTGGCCAGGGGCAGAGGGGCCCACCCATCATCCTGGAAGCC
ACACTTCACCTAGCAGAGATTGAAGACATGCCGCTATTTGAGCCACGGGTGTTTACAGCTGGCAGCGAGGAGCGTGTGACCTGCCTTCCCCCCAAGGGTCTGCCA
GAGCCCAGCGTGTGGTGGGAGCACGCGGGAGTCCGGCTGCCCACCCATGGCAGGGTCTACCAGAAGGGCCACGAGCTGGTGTTGGCCAATATTGCTGAAAGTGAT
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>PTK7|5754|protein
MGAARGSPARPRRLPLLSVLLLPLLGGTQTAIVFIKQPSSQDALQGRRALLRCEVEAPGPVHVYWLLDGAPVQDTERRFAQGSSLSFAAVDRLQDSGTFQCVARD
DVTGEEARSANASFNIKWIEAGPVVLKHPASEAEIQPQTQVTLRCHIDGHPRPTYQWFRDGTPLSDGQSNHTVSSKERNLTLRPAGPEHSGLYSCCAHSAFGQAC
SSQNFTLSIADESFARVVLAPQDVVVARYEEAMFHCQFSAQPPPSLQWLFEDETPITNRSRPPHLRRATVFANGSLLLTQVRPRNAGIYRCIGQGQRGPPIILEA
TLHLAEIEDMPLFEPRVFTAGSEERVTCLPPKGLPEPSVWWEHAGVRLPTHGRVYQKGHELVLANIAESDAGVYTCHAANLAGQRRQDVNITVATVPSWLKKPQD
SQLEEGKPGYLDCLTQATPKPTVVWYRNQMLISEDSRFEVFKNGTLRINSVEVYDGTWYRCMSSTPAGSIEAQARVQVLEKLKFTPPPQPQQCMEFDKEATVPCS
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (4) 0 (0) 0 (1) 0 (0) 2 (6)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top