AutismKB 2.0

Evidence Details for PAFAH1B1


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Basic Information Top
Gene Symbol:PAFAH1B1 ( LIS1,LIS2,MDCR,MDS,PAFAH )
Gene Full Name: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Band: 17p13.3
Quick LinksEntrez ID:5048; OMIM: 601545; Uniprot ID:LIS1_HUMAN; ENSEMBL ID: ENSG00000007168; HGNC ID: 8574
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PAFAH1B1|5048|nucleotide
ATGGTGCTGTCCCAGAGACAACGAGATGAACTAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCT
GAATTAGATGTGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTTATGGAATTAGAATCA
AAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGT
GGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTGTGGGATTATGAGACTGGA
GATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAA
CTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCC
TCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGAT
GGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAA
TGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGACTAAAAAAAGTGGTAAACCTGGGCCATTCTTGCTGTCTGGATCC
AGAGACAAGACTATTAAGATGTGGGATGTCAGTACTGGCATGTGCCTTATGACCCTCGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGG
AAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCC
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>PAFAH1B1|5048|protein
MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYALS
GHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSA
SRDKTIKMWEVQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETKKSGKPGPFLLSGS
RDKTIKMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSVDQTVKVWECR

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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) Yes 0 (0) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMLissencephaly 1 (607432)
DescriptionDeletions or point mutations of PAFAH1B1 (LIS1) result in isolated lissencephaly; extended deletions including YWHAE cause Miller-Dieker syndrome; microduplications of PAFAH1B1 cause ID and subtle brain abnormalities. 30% (12/40) of patients with PAFAH1B1 point mutations or intragenic deletions have moderate to severe autistic features
Reference(s)19136950; 20452996; 19667223;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Asadollahi R, 2014 - CMA--NDDs - - - - 714 2528 3242
Linkage Studies Top