Evidence Details for PLEKHA7
Basic Information Top
Gene Symbol: | PLEKHA7 ( DKFZp686M22243 ) |
---|---|
Gene Full Name: | pleckstrin homology domain containing, family A member 7 |
Band: | 11p15 |
Quick Links | Entrez ID:144100; OMIM: 612686; Uniprot ID:PKHA7_HUMAN; ENSEMBL ID: ENSG00000166689; HGNC ID: 27049 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PLEKHA7|144100|nucleotide
ATGGCGGCGGCGACGGTCGGGCGGGACACTTTACCTGAGCATTGGTCCTACGGGGTGTGCCGGGATGGCCGCGTCTTCTTCATCAATGACCAGCTCCGCTGCACG
ACCTGGCTGCATCCGCGCACCGGGGAGCCCGTCAACTCGGGCCACATGATCCGCTCAGACCTGCCCCGCGGCTGGGAGGAGGGCTTCACGGAGGAGGGCGCCAGC
TACTTCATCGACCATAACCAGCAGACCACAGCATTCAGGCATCCTGTGACGGGACAGTTTTCTCCAGAAAATAGTGAATTCATTCTTCAAGAAGAGCCGAATCCA
CATATGTCGAAGCAAGACAGAAACCAAAGACCGTCCAGCATGGTCAGTGAAACATCCACGGCTGGGACCGCCTCCACCCTGGAGGCCAAGCCTGGACCCAAGATC
ATAAAGTCCAGCAGTAAAGTCCACAGCTTTGGGAAGAGAGACCAGGCCATTCGGAGGAACCCCAATGTTCCCGTGGTGGTGAGGGGCTGGCTGCACAAGCAGGAC
AGTTCTGGGATGAGGCTGTGGAAAAGGAGGTGGTTTGTGCTTGCTGATTACTGCTTATTTTACTATAAAGACAGCCGAGAAGAAGCGGTCCTCGGGAGCATCCCC
TTGCCCAGCTACGTGATCTCTCCTGTGGCCCCTGAGGATCGCATAAGCCGCAAATATTCCTTTAAGGCTGTGCACACGGGGATGCGAGCGCTCATCTATAACAGC
TCCACAGCGGGCTCTCAGGCCGAGCAGTCAGGCATGAGGACCTACTACTTCAGTGCCGACACCCAGGAGGACATGAACGCTTGGGTCAGGGCCATGAACCAGGCT
GCACAGGTGCTGTCTCGATCGTCACTGAAGAGGGATATGGAGAAGGTGGAGCGGCAGGCTGTCCCCCAGGCCAACCACACAGAGTCCTGTCACGAATGTGGCCGG
GTGGGACCCGGACATACGAGAGATTGTCCTCATCGTGGCCATGATGACATTGTCAACTTCGAGAGGCAGGAGCAGGAGGGAGAGCAGTACCGTTCCCAGAGGGAC
CCACTGGAGGGCAAGCGGGACCGGAGCAAGGCCAGGTCTCCGTACTCGCCAGCCGAGGAGGATGCCTTGTTTATGGATTTACCCACTGGCCCAAGAGGCCAGCAG
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ATGGCGGCGGCGACGGTCGGGCGGGACACTTTACCTGAGCATTGGTCCTACGGGGTGTGCCGGGATGGCCGCGTCTTCTTCATCAATGACCAGCTCCGCTGCACG
ACCTGGCTGCATCCGCGCACCGGGGAGCCCGTCAACTCGGGCCACATGATCCGCTCAGACCTGCCCCGCGGCTGGGAGGAGGGCTTCACGGAGGAGGGCGCCAGC
TACTTCATCGACCATAACCAGCAGACCACAGCATTCAGGCATCCTGTGACGGGACAGTTTTCTCCAGAAAATAGTGAATTCATTCTTCAAGAAGAGCCGAATCCA
CATATGTCGAAGCAAGACAGAAACCAAAGACCGTCCAGCATGGTCAGTGAAACATCCACGGCTGGGACCGCCTCCACCCTGGAGGCCAAGCCTGGACCCAAGATC
ATAAAGTCCAGCAGTAAAGTCCACAGCTTTGGGAAGAGAGACCAGGCCATTCGGAGGAACCCCAATGTTCCCGTGGTGGTGAGGGGCTGGCTGCACAAGCAGGAC
AGTTCTGGGATGAGGCTGTGGAAAAGGAGGTGGTTTGTGCTTGCTGATTACTGCTTATTTTACTATAAAGACAGCCGAGAAGAAGCGGTCCTCGGGAGCATCCCC
TTGCCCAGCTACGTGATCTCTCCTGTGGCCCCTGAGGATCGCATAAGCCGCAAATATTCCTTTAAGGCTGTGCACACGGGGATGCGAGCGCTCATCTATAACAGC
TCCACAGCGGGCTCTCAGGCCGAGCAGTCAGGCATGAGGACCTACTACTTCAGTGCCGACACCCAGGAGGACATGAACGCTTGGGTCAGGGCCATGAACCAGGCT
GCACAGGTGCTGTCTCGATCGTCACTGAAGAGGGATATGGAGAAGGTGGAGCGGCAGGCTGTCCCCCAGGCCAACCACACAGAGTCCTGTCACGAATGTGGCCGG
GTGGGACCCGGACATACGAGAGATTGTCCTCATCGTGGCCATGATGACATTGTCAACTTCGAGAGGCAGGAGCAGGAGGGAGAGCAGTACCGTTCCCAGAGGGAC
CCACTGGAGGGCAAGCGGGACCGGAGCAAGGCCAGGTCTCCGTACTCGCCAGCCGAGGAGGATGCCTTGTTTATGGATTTACCCACTGGCCCAAGAGGCCAGCAG
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>PLEKHA7|144100|protein
MAAATVGRDTLPEHWSYGVCRDGRVFFINDQLRCTTWLHPRTGEPVNSGHMIRSDLPRGWEEGFTEEGASYFIDHNQQTTAFRHPVTGQFSPENSEFILQEEPNP
HMSKQDRNQRPSSMVSETSTAGTASTLEAKPGPKIIKSSSKVHSFGKRDQAIRRNPNVPVVVRGWLHKQDSSGMRLWKRRWFVLADYCLFYYKDSREEAVLGSIP
LPSYVISPVAPEDRISRKYSFKAVHTGMRALIYNSSTAGSQAEQSGMRTYYFSADTQEDMNAWVRAMNQAAQVLSRSSLKRDMEKVERQAVPQANHTESCHECGR
VGPGHTRDCPHRGHDDIVNFERQEQEGEQYRSQRDPLEGKRDRSKARSPYSPAEEDALFMDLPTGPRGQQAQPQRAEKNGMLPASYGPGEQNGTGGYQRAFPPRT
NPEKHSQRKSNLAQVEHWARAQKGDSRSLPLDQTLPRQGPGQSLSFPENYQTLPKSTRHPSGGSSPPPRNLPSDYKYAQDRASHLKMSSEERRAHRDGTVWQLYE
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MAAATVGRDTLPEHWSYGVCRDGRVFFINDQLRCTTWLHPRTGEPVNSGHMIRSDLPRGWEEGFTEEGASYFIDHNQQTTAFRHPVTGQFSPENSEFILQEEPNP
HMSKQDRNQRPSSMVSETSTAGTASTLEAKPGPKIIKSSSKVHSFGKRDQAIRRNPNVPVVVRGWLHKQDSSGMRLWKRRWFVLADYCLFYYKDSREEAVLGSIP
LPSYVISPVAPEDRISRKYSFKAVHTGMRALIYNSSTAGSQAEQSGMRTYYFSADTQEDMNAWVRAMNQAAQVLSRSSLKRDMEKVERQAVPQANHTESCHECGR
VGPGHTRDCPHRGHDDIVNFERQEQEGEQYRSQRDPLEGKRDRSKARSPYSPAEEDALFMDLPTGPRGQQAQPQRAEKNGMLPASYGPGEQNGTGGYQRAFPPRT
NPEKHSQRKSNLAQVEHWARAQKGDSRSLPLDQTLPRQGPGQSLSFPENYQTLPKSTRHPSGGSSPPPRNLPSDYKYAQDRASHLKMSSEERRAHRDGTVWQLYE
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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) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (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 | ||||||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
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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