AutismKB 2.0

Evidence Details for PRICKLE2


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Basic Information Top
Gene Symbol:PRICKLE2 ( DKFZp686D143,DKFZp686H1748,DKFZp686M031 )
Gene Full Name: prickle homolog 2 (Drosophila)
Band: 3p14.1
Quick LinksEntrez ID:166336; OMIM: 608501; Uniprot ID:PRIC2_HUMAN; ENSEMBL ID: ENSG00000163637; HGNC ID: 20340
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRICKLE2|166336|nucleotide
ATGGTGACAGTGATGCCGCTGGAGATGGAGAAGACCATCAGCAAACTCATGTTTGACTTTCAGAGGAACTCGACCTCAGATGATGACTCAGGCTGTGCTTTGGAA
GAGTATGCCTGGGTCCCGCCGGGTCTGAAGCCTGAACAGGTACACCAGTACTATAGCTGTCTCCCAGAAGAGAAAGTCCCTTATGTCAACAGTCCTGGAGAGAAA
CTGCGAATCAAGCAGCTACTACACCAGCTGCCGCCACATGACAATGAGGTTCGATATTGCAACTCCCTGGATGAGGAAGAGAAGAGGGAGCTGAAGCTTTTCAGC
AGCCAGAGGAAACGCGAAAACTTGGGCCGCGGGAATGTCAGGCCTTTCCCAGTCACCATGACAGGAGCTATTTGTGAACAGTGCGGAGGCCAGATCAATGGTGGA
GACATCGCTGTGTTTGCGTCACGCGCTGGCCACGGCGTTTGCTGGCACCCGCCGTGCTTCGTATGCACTGTCTGCAATGAGCTCCTGGTGGATCTGATCTACTTT
TACCAAGATGGGAAGATATACTGTGGCAGGCACCATGCTGAGTGCCTGAAGCCGCGCTGTGCTGCCTGCGATGAGATCATCTTTGCAGATGAATGCACAGAAGCT
GAGGGGCGACACTGGCACATGAAACACTTTTGCTGCTTCGAGTGTGAGACAGTGCTGGGCGGCCAGCGCTACATCATGAAGGAGGGAAGACCCTACTGTTGCCAC
TGCTTCGAGTCCTTGTATGCAGAATATTGTGACACCTGTGCCCAACATATAGGTATCGACCAAGGTCAAATGACCTATGATGGCCAACACTGGCATGCCACTGAG
ACCTGTTTCTGCTGTGCTCACTGCAAGAAATCCCTCCTGGGGCGGCCATTCCTCCCGAAGCAGGGCCAGATATTCTGCTCACGGGCCTGCAGTGCTGGGGAAGAC
CCCAATGGTTCTGACTCCTCTGATTCCGCCTTCCAGAACGCCAGGGCCAAGGAGTCCCGGCGCAGTGCCAAAATTGGCAAGAACAAGGGCAAGACGGAGGAGCCC
ATGCTGAACCAGCACAGCCAGCTGCAAGTGAGTTCTAACCGGCTGTCAGCCGACGTAGACCCCCTGTCACTGCAGATGGACATGCTCAGCCTGTCCAGCCAGACA
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>PRICKLE2|166336|protein
MVTVMPLEMEKTISKLMFDFQRNSTSDDDSGCALEEYAWVPPGLKPEQVHQYYSCLPEEKVPYVNSPGEKLRIKQLLHQLPPHDNEVRYCNSLDEEEKRELKLFS
SQRKRENLGRGNVRPFPVTMTGAICEQCGGQINGGDIAVFASRAGHGVCWHPPCFVCTVCNELLVDLIYFYQDGKIYCGRHHAECLKPRCAACDEIIFADECTEA
EGRHWHMKHFCCFECETVLGGQRYIMKEGRPYCCHCFESLYAEYCDTCAQHIGIDQGQMTYDGQHWHATETCFCCAHCKKSLLGRPFLPKQGQIFCSRACSAGED
PNGSDSSDSAFQNARAKESRRSAKIGKNKGKTEEPMLNQHSQLQVSSNRLSADVDPLSLQMDMLSLSSQTPSLNRDPIWRSREEPYHYGNKMEQNQTQSPLQLLS
QCNIRTSYSPGGQGAGAQPEMWGKHFSNPKRSSSLAMTGHAGSFIKECREDYYPGRLRSQESYSDMSSQSFSETRGSIQVPKYEEEEEEEGGLSTQQCRTRHPIS
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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 (0) 0 (1) 1 (1) 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
Okumura A, 2014 - aCGH--autistic 1 - - - 2 - 2
Linkage Studies Top