Evidence Details for PLEKHA2


Gene Symbol: | PLEKHA2 ( FLJ25921,TAPP2 ) |
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Gene Full Name: | pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 |
Band: | 8p11.22 |
Quick Links | Entrez ID:59339; OMIM: 607773; Uniprot ID:PKHA2_HUMAN; ENSEMBL ID: ENSG00000169499; HGNC ID: 14336 |
Relate to Another Database: | SFARIGene; denovo-db |


>PLEKHA2|59339|nucleotide
ATGCCTTATGTGGATCGGCAGAACCGAATCTGTGGGTTTCTGGACATCGAGGAGCATGAGAACAGCGGCAAGTTTCTGCGGAGGTACTTCATTCTGGACACCCAG
GCTAACTGCCTCCTCTGGTATATGGACAACCCCCAGAATCTGGCAATGGGGGCAGGAGCTGTTGGAGCTTTGCAGCTGACCTACATCTCGAAGGTGAGCATAGCT
ACCCCAAAACAGAAACCAAAAACTCCATTTTGCTTTGTTATCAATGCCCTGTCTCAGAGATATTTCCTTCAAGCCAATGATCAGAAAGATATGAAGGACTGGGTT
GAAGCCCTGAACCAAGCCAGCAAGATCACCGTTCCCAAAGGTGGGGGCCTACCCATGACCACTGAAGTTCTCAAGAGCTTAGCAGCTCCTCCAGCCCTGGAGAAG
AAGCCACAGGTGGCCTACAAGACGGAGATCATTGGAGGGGTGGTGGTCCACACACCCATCAGCCAGAACGGTGGGGATGGGCAGGAAGGGAGTGAGCCCGGGTCC
CACACCATCCTTCGAAGGTCTCAGAGTTACATCCCCACGTCAGGCTGCCGTGCTTCCACTGGGCCTCCCCTCATTAAGAGTGGTTACTGCGTGAAGCAAGGGAAT
GTGCGGAAGAGCTGGAAACGTCGCTTCTTTGCACTTGATGACTTTACCATCTGCTACTTCAAGTGTGAGCAGGACCGAGAACCACTGCGCACCATATTTCTTAAG
GATGTTCTGAAGACCCATGAATGTCTGGTCAAGTCTGGTGATCTCTTAATGAGGGACAACCTGTTTGAAATAATAACAAGCTCCAGGACCTTCTACGTACAGGCA
GACAGTCCAGAAGACATGCACAGCTGGATTAAGGAGATTGGCGCAGCTGTCCAGGCCCTCAAGTGCCACCCCAGAGAAACGTCCTTTTCTAGATCCATTTCTTTG
ACCCGACCTGGAAGCTCCAGCCTTTCAAGTGGGCCCAACTCTATCCTGTGCAGGGGGCGGCCACCTTTGGAGGAAAAGAAAGCCCTCTGCAAAGCCCCCTCTGTG
GCCTCCTCCTGGCAGCCCTGGACACCTGTCCCCCAGGCTGGGGAGAAGCTGCTTCCACCTGGAGACACTTCAGAGGACTCCTTGTTCACGCCTCGTCCTGGGGAG
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ATGCCTTATGTGGATCGGCAGAACCGAATCTGTGGGTTTCTGGACATCGAGGAGCATGAGAACAGCGGCAAGTTTCTGCGGAGGTACTTCATTCTGGACACCCAG
GCTAACTGCCTCCTCTGGTATATGGACAACCCCCAGAATCTGGCAATGGGGGCAGGAGCTGTTGGAGCTTTGCAGCTGACCTACATCTCGAAGGTGAGCATAGCT
ACCCCAAAACAGAAACCAAAAACTCCATTTTGCTTTGTTATCAATGCCCTGTCTCAGAGATATTTCCTTCAAGCCAATGATCAGAAAGATATGAAGGACTGGGTT
GAAGCCCTGAACCAAGCCAGCAAGATCACCGTTCCCAAAGGTGGGGGCCTACCCATGACCACTGAAGTTCTCAAGAGCTTAGCAGCTCCTCCAGCCCTGGAGAAG
AAGCCACAGGTGGCCTACAAGACGGAGATCATTGGAGGGGTGGTGGTCCACACACCCATCAGCCAGAACGGTGGGGATGGGCAGGAAGGGAGTGAGCCCGGGTCC
CACACCATCCTTCGAAGGTCTCAGAGTTACATCCCCACGTCAGGCTGCCGTGCTTCCACTGGGCCTCCCCTCATTAAGAGTGGTTACTGCGTGAAGCAAGGGAAT
GTGCGGAAGAGCTGGAAACGTCGCTTCTTTGCACTTGATGACTTTACCATCTGCTACTTCAAGTGTGAGCAGGACCGAGAACCACTGCGCACCATATTTCTTAAG
GATGTTCTGAAGACCCATGAATGTCTGGTCAAGTCTGGTGATCTCTTAATGAGGGACAACCTGTTTGAAATAATAACAAGCTCCAGGACCTTCTACGTACAGGCA
GACAGTCCAGAAGACATGCACAGCTGGATTAAGGAGATTGGCGCAGCTGTCCAGGCCCTCAAGTGCCACCCCAGAGAAACGTCCTTTTCTAGATCCATTTCTTTG
ACCCGACCTGGAAGCTCCAGCCTTTCAAGTGGGCCCAACTCTATCCTGTGCAGGGGGCGGCCACCTTTGGAGGAAAAGAAAGCCCTCTGCAAAGCCCCCTCTGTG
GCCTCCTCCTGGCAGCCCTGGACACCTGTCCCCCAGGCTGGGGAGAAGCTGCTTCCACCTGGAGACACTTCAGAGGACTCCTTGTTCACGCCTCGTCCTGGGGAG
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |














Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |






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