AutismKB 2.0

Evidence Details for PRICKLE4


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Basic Information Top
Gene Symbol:PRICKLE4 ( C6orf49,MGC120398,OBTP,OEBT,TOMM6 )
Gene Full Name: prickle homolog 4 (Drosophila)
Band: 6p21.1
Quick LinksEntrez ID:29964; OMIM: 611389; Uniprot ID:PRIC4_HUMAN; ENSEMBL ID: ENSG00000124593; HGNC ID: 16805
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRICKLE4|29964|nucleotide
ATGTCAGTGCAGAACTCTGGCTGGCCCCACCAAGAAGACAGCCCCAAGCCCCAGGATCCAGGTCCACCAGCCAACTCAGACAGTGACTCAGGCCACCTGCCGGGG
GAGGACCCTGAGGATACCCATGCTCAGGGTCCTGCAGTTCTGAGCTTGGGTTCCCTTTGCCTGGACACCAACCAAGCCCCCAACTGGACTGGACTTCAGACCCTC
CTGCAGCAACTCCCTCCGCAGGACATTGATGAGCGCTACTGCCTGGCCCTTGGGGAGGAGGAGCGGGCCGAGCTGCAGCTCTTCTGTGCCAGGCGGAAGCAGGAA
GCCCTGGGACAGGGGGTAGCCCGCCTGGTACTTCCCAAGCTTGAAGGACACACCTGTGAGAAGTGTAGGGAGCTGCTGAAGCCAGGGGAGTACGGAGTGTTTGCA
GCCCGGGCAGGGGAACAGCGCTGCTGGCACCAGCCTTGCTTTGCCTGCCAGGCCTGTGGCCAGGCCCTGATAAACCTCATCTACTTCTACCATGATGGACAACTC
TACTGCGGCCGTCATCATGCAGAGTTGCTGCGCCCGCGCTGCCCGGCTTGTGACCAGCTGATCTTCTCCTGGCGCTGCACCGAGGCGGAGGGACAGCGCTGGCAT
GAGAACCACTTCTGTTGCCAGGACTGCGCCGGGCCTCTGGGCGGGGGACGTTATGCCCTGCCTGGGGGAAGCCCCTGCTGCCCCAGCTGCTTCGAGAACCGCTAC
TCGGATGCAGGCTCGAGCTGGGCCGGGGCACTGGAAGGGCAGGCATTCCTTGGGGAGACTGGACTCGACCGAACTGAAGGAAGGGACCAAACCTCGGTGAACTCT
GCAACCCTCTCCCGAACACTCCTCGCTGCTGCCGGCGGTTCCAGCCTGCAAACTCAGAGGGGGCTGCCTGGATCCAGTCCCCAGCAGGAGAACCGACCTGGGGAC
AAAGCGGAGGCACCCAAAGGGCAGGAGCAATGCCGCCTGGAGACTATTCGTGATCCCAAGGACACCCCTTTCTCCACCTGCTCCTCCTCCTCTGACTCGGAACCT
GAAGGATTTTTCTTAGGCGAGCGCCTTCCCCAGTCCTGGAAGACCCCCGGAAGCCTCCAAGCAGAGGACAGCAACGCCTCTAAGACGCACTGCACCATGTGCTAG
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>PRICKLE4|29964|protein
MSVQNSGWPHQEDSPKPQDPGPPANSDSDSGHLPGEDPEDTHAQGPAVLSLGSLCLDTNQAPNWTGLQTLLQQLPPQDIDERYCLALGEEERAELQLFCARRKQE
ALGQGVARLVLPKLEGHTCEKCRELLKPGEYGVFAARAGEQRCWHQPCFACQACGQALINLIYFYHDGQLYCGRHHAELLRPRCPACDQLIFSWRCTEAEGQRWH
ENHFCCQDCAGPLGGGRYALPGGSPCCPSCFENRYSDAGSSWAGALEGQAFLGETGLDRTEGRDQTSVNSATLSRTLLAAAGGSSLQTQRGLPGSSPQQENRPGD
KAEAPKGQEQCRLETIRDPKDTPFSTCSSSSDSEPEGFFLGERLPQSWKTPGSLQAEDSNASKTHCTMC

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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 (0) 0 (1) 0 (0) 0 (0) 2 (2)
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