Evidence Details for PRICKLE3
Basic Information Top
Gene Symbol: | PRICKLE3 ( LMO6 ) |
---|---|
Gene Full Name: | prickle homolog 3 (Drosophila) |
Band: | Xp11.23 |
Quick Links | Entrez 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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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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MFARGSRRRRSGRAPPEAEDPDRGQPCNSCREQCPGFLLHGWRKICQHCKCPREEHAVHAVPVDLERIMCRLISDFQRHSISDDDSGCASEEYAWVPPGLKPEQV
YQFFSCLPEDKVPYVNSPGEKYRIKQLLHQLPPHDSEAQYCTALEEEEKKELRAFSQQRKRENLGRGIVRIFPVTITGAICEECGKQIGGGDIAVFASRAGLGAC
WHPQCFVCTTCQELLVDLIYFYHVGKVYCGRHHAECLRPRCQACDEIIFSPECTEAEGRHWHMDHFCCFECEASLGGQRYVMRQSRPHCCACYEARHAEYCDGCG
EHIGLDQGQMAYEGQHWHASDRCFCCSRCGRALLGRPFLPRRGLIFCSRACSLGSEPTAPGPSRRSWSAGPVTAPLAASTASFSAVKGASETTTKGTSTELAPAT
GPEEPSRFLRGAPHRHSMPELGLRSVPEPPPESPGQPNLRPDDSAFGRQSTPRVSFRDPLVSEGGPRRTLSAPPAQRRRPRSPPPRAPSRRRHHHHNHHHHHNRH
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Edens, 2011 | Austria | FISH, aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Edens, 2011 | Honduras | aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Edens, 2011 | Austria | FISH, aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Chung, 2011 | - | SNP microarray | ASD | - | - | - | - | 1 | - | 1 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Edens, 2011 | Honduras | aCGH | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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