Evidence Details for PAFAH1B2
Basic Information Top
| Gene Symbol: | PAFAH1B2 ( - ) |
|---|---|
| Gene Full Name: | platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) |
| Band: | 11q23 |
| Quick Links | Entrez ID:5049; OMIM: 602508; Uniprot ID:PA1B2_HUMAN; ENSEMBL ID: ENSG00000168092; HGNC ID: 8575 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PAFAH1B2|5049|nucleotide
ATGAGCCAAGGAGACTCAAACCCAGCAGCTATTCCGCATGCAGCAGAAGATATTCAAGGAGATGACCGATGGATGTCTCAGCACAACAGATTTGTTTTGGACTGT
AAAGACAAAGAGCCTGATGTACTGTTCGTGGGAGACTCCATGGTGCAGTTAATGCAGCAATATGAGATATGGCGAGAGCTTTTTTCCCCACTTCATGCACTGAAT
TTTGGAATTGGGGGAGATACAACAAGACATGTTTTGTGGAGACTAAAGAATGGAGAACTGGAGAATATTAAGCCTAAGGTCATTGTTGTCTGGGTAGGAACAAAT
AACCACGAAAATACAGCAGAAGAAGTAGCAGGTGGGATCGAGGCCATTGTACAACTTATCAACACAAGGCAGCCACAGGCCAAAATCATTGTATTGGGTAAAGCA
GCCGCCTCCAAATACTCTATCTCAGAGATAGTGAGACTAGAACAAGGGTCGGTTAACTGGTCGATCGGGACCTATCCTGATGACACACCAGCAACTACCAGGCCA
GCAATATTACAATTATTTACTGGCAAGATGAGCAGGATTACCATGAAAGAAAAGTCCAGATGGACTGAGGAAATCCTACACTGA
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ATGAGCCAAGGAGACTCAAACCCAGCAGCTATTCCGCATGCAGCAGAAGATATTCAAGGAGATGACCGATGGATGTCTCAGCACAACAGATTTGTTTTGGACTGT
AAAGACAAAGAGCCTGATGTACTGTTCGTGGGAGACTCCATGGTGCAGTTAATGCAGCAATATGAGATATGGCGAGAGCTTTTTTCCCCACTTCATGCACTGAAT
TTTGGAATTGGGGGAGATACAACAAGACATGTTTTGTGGAGACTAAAGAATGGAGAACTGGAGAATATTAAGCCTAAGGTCATTGTTGTCTGGGTAGGAACAAAT
AACCACGAAAATACAGCAGAAGAAGTAGCAGGTGGGATCGAGGCCATTGTACAACTTATCAACACAAGGCAGCCACAGGCCAAAATCATTGTATTGGGTAAAGCA
GCCGCCTCCAAATACTCTATCTCAGAGATAGTGAGACTAGAACAAGGGTCGGTTAACTGGTCGATCGGGACCTATCCTGATGACACACCAGCAACTACCAGGCCA
GCAATATTACAATTATTTACTGGCAAGATGAGCAGGATTACCATGAAAGAAAAGTCCAGATGGACTGAGGAAATCCTACACTGA
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>PAFAH1B2|5049|protein
MSQGDSNPAAIPHAAEDIQGDDRWMSQHNRFVLDCKDKEPDVLFVGDSMVQLMQQYEIWRELFSPLHALNFGIGGDTTRHVLWRLKNGELENIKPKVIVVWVGTN
NHENTAEEVAGGIEAIVQLINTRQPQAKIIVLGKAAASKYSISEIVRLEQGSVNWSIGTYPDDTPATTRPAILQLFTGKMSRITMKEKSRWTEEILH
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MSQGDSNPAAIPHAAEDIQGDDRWMSQHNRFVLDCKDKEPDVLFVGDSMVQLMQQYEIWRELFSPLHALNFGIGGDTTRHVLWRLKNGELENIKPKVIVVWVGTN
NHENTAEEVAGGIEAIVQLINTRQPQAKIIVLGKAAASKYSISEIVRLEQGSVNWSIGTYPDDTPATTRPAILQLFTGKMSRITMKEKSRWTEEILH
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Evidence summary TopClick 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 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 10 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2012 | - | 343 | 50 | De novo gene disruptions in children on the autistic spectrum. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.