AutismKB 2.0

Evidence Details for PRICKLE3


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Basic Information Top
Gene Symbol:PRICKLE3 ( LMO6 )
Gene Full Name: prickle homolog 3 (Drosophila)
Band: Xp11.23
Quick LinksEntrez ID:4007; OMIM: 300111; Uniprot ID:PRIC3_HUMAN; ENSEMBL ID: ENSG00000012211; HGNC ID: 6645
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRICKLE3|4007|nucleotide
ATGTTCGCGCGTGGGTCCCGGAGGCGCCGCTCCGGGCGTGCGCCTCCAGAGGCAGAGGACCCAGACCGGGGCCAGCCCTGCAACTCCTGTAGGGAGCAGTGCCCT
GGCTTCCTGCTCCACGGCTGGAGAAAGATCTGCCAGCATTGCAAATGCCCGCGGGAGGAGCATGCAGTGCACGCGGTGCCTGTGGACCTGGAACGCATCATGTGT
CGGCTAATCTCGGACTTCCAGCGCCACTCCATCTCCGACGACGACTCAGGCTGTGCATCGGAGGAGTATGCCTGGGTGCCCCCAGGCCTTAAGCCGGAGCAGGTA
TATCAATTTTTCAGCTGCCTCCCAGAGGACAAGGTCCCCTACGTCAACAGTCCTGGGGAGAAATACAGGATCAAGCAGCTGCTGCACCAGCTGCCCCCACACGAC
AGTGAGGCACAGTACTGCACAGCACTGGAAGAGGAGGAAAAGAAAGAGCTCCGAGCCTTTAGCCAGCAGCGGAAGCGGGAGAATCTGGGGCGTGGCATCGTGCGC
ATCTTCCCGGTGACCATCACTGGGGCCATCTGTGAGGAGTGCGGAAAGCAGATTGGAGGTGGGGACATCGCAGTGTTTGCCAGCCGTGCAGGCCTGGGTGCCTGC
TGGCACCCACAGTGCTTCGTGTGTACCACGTGCCAGGAACTGCTGGTTGACCTCATCTACTTCTACCATGTTGGCAAGGTCTACTGCGGGCGTCACCATGCCGAA
TGCCTGCGTCCACGCTGCCAAGCCTGTGACGAGATCATCTTCTCCCCTGAGTGCACGGAGGCTGAGGGCCGCCACTGGCACATGGATCACTTCTGCTGCTTTGAG
TGTGAAGCTTCACTAGGAGGGCAGCGCTATGTCATGCGTCAGAGCCGCCCCCACTGCTGCGCCTGCTACGAGGCCCGCCACGCGGAGTACTGTGATGGCTGTGGG
GAGCACATCGGCCTGGACCAAGGCCAGATGGCTTACGAGGGCCAGCACTGGCATGCCTCAGACCGCTGCTTCTGCTGTAGTCGCTGTGGGCGGGCCCTGCTGGGC
CGCCCATTCCTGCCACGCCGAGGCCTAATCTTCTGCTCTCGAGCCTGCAGCCTTGGGTCCGAGCCCACAGCTCCAGGGCCGAGCCGCCGCAGCTGGAGTGCCGGC
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>PRICKLE3|4007|protein
MFARGSRRRRSGRAPPEAEDPDRGQPCNSCREQCPGFLLHGWRKICQHCKCPREEHAVHAVPVDLERIMCRLISDFQRHSISDDDSGCASEEYAWVPPGLKPEQV
YQFFSCLPEDKVPYVNSPGEKYRIKQLLHQLPPHDSEAQYCTALEEEEKKELRAFSQQRKRENLGRGIVRIFPVTITGAICEECGKQIGGGDIAVFASRAGLGAC
WHPQCFVCTTCQELLVDLIYFYHVGKVYCGRHHAECLRPRCQACDEIIFSPECTEAEGRHWHMDHFCCFECEASLGGQRYVMRQSRPHCCACYEARHAEYCDGCG
EHIGLDQGQMAYEGQHWHASDRCFCCSRCGRALLGRPFLPRRGLIFCSRACSLGSEPTAPGPSRRSWSAGPVTAPLAASTASFSAVKGASETTTKGTSTELAPAT
GPEEPSRFLRGAPHRHSMPELGLRSVPEPPPESPGQPNLRPDDSAFGRQSTPRVSFRDPLVSEGGPRRTLSAPPAQRRRPRSPPPRAPSRRRHHHHNHHHHHNRH
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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 (5) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Chung, 2011 - SNP microarrayASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top