AutismKB 2.0

Evidence Details for AGPAT9


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Basic Information Top
Gene Symbol:AGPAT9 ( AGPAT8,GPAT3,LPAAT-theta,MAG1,MGC11324 )
Gene Full Name: 1-acylglycerol-3-phosphate O-acyltransferase 9
Band: 4q21.23
Quick LinksEntrez ID:84803; OMIM: 610958; Uniprot ID:GPAT3_HUMAN; ENSEMBL ID: ENSG00000138678; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AGPAT9|84803|nucleotide
ATGGAGGGCGCAGAGCTGGCCGGGAAGATCCTTTCCACCTGGCTGACGCTGGTTCTCGGCTTCATCCTTTTACCTTCGGTCTTCGGAGTGTCTCTGGGCATCTCC
GAGATCTACATGAAGATCCTAGTGAAAACTTTAGAGTGGGCCACAATACGAATTGAAAAAGGAACCCCAAAGGAGTCGATTCTTAAAAACTCTGCTTCTGTTGGT
ATTATCCAAAGAGATGAGTCACCCATGGAAAAAGGGCTCTCTGGTCTACGAGGAAGGGACTTTGAGCTGTCTGACGTGTTTTATTTCTCCAAGAAGGGATTGGAA
GCCATTGTAGAAGATGAAGTGACCCAGAGGTTTTCCTCAGAGGAGCTAGTGTCATGGAATCTCCTCACAAGAACCAATGTAAATTTCCAGTACATCAGTCTGCGG
CTCACTATGGTGTGGGTGCTGGGCGTCATAGTGCGCTATTGTGTCCTACTGCCTCTGAGGGTTACCTTGGCTTTCATTGGGATCAGTTTGCTGGTTATAGGAACT
ACACTGGTTGGGCAGCTGCCAGACAGCAGCCTCAAAAACTGGCTGAGTGAACTGGTCCATCTGACTTGCTGCCGGATCTGTGTGCGAGCCCTCTCTGGTACCATT
CATTATCATAACAAGCAGTACAGACCCCAGAAGGGAGGCATTTGTGTTGCCAACCATACTTCCCCCATTGATGTTTTAATCTTGACAACGGATGGATGTTATGCT
ATGGTTGGCCAGGTTCATGGCGGCTTGATGGGAATTATTCAGAGAGCTATGGTCAAGGCTTGTCCTCATGTCTGGTTTGAACGCTCAGAAATGAAGGATCGACAC
CTGGTTACTAAGAGACTAAAAGAACATATTGCTGATAAGAAGAAACTACCCATACTAATTTTTCCTGAAGGAACTTGCATCAACAATACTTCAGTCATGATGTTT
AAAAAGGGGAGCTTTGAAATTGGAGGAACCATACATCCAGTTGCAATTAAGTATAACCCTCAGTTCGGTGATGCATTTTGGAACAGTAGTAAATACAACATGGTG
AGCTACCTGCTTCGAATGATGACCAGCTGGGCCATCGTCTGTGACGTGTGGTACATGCCCCCCATGACCAGAGAGGAAGGAGAAGATGCAGTCCAGTTTGCTAAC
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>AGPAT9|84803|protein
MEGAELAGKILSTWLTLVLGFILLPSVFGVSLGISEIYMKILVKTLEWATIRIEKGTPKESILKNSASVGIIQRDESPMEKGLSGLRGRDFELSDVFYFSKKGLE
AIVEDEVTQRFSSEELVSWNLLTRTNVNFQYISLRLTMVWVLGVIVRYCVLLPLRVTLAFIGISLLVIGTTLVGQLPDSSLKNWLSELVHLTCCRICVRALSGTI
HYHNKQYRPQKGGICVANHTSPIDVLILTTDGCYAMVGQVHGGLMGIIQRAMVKACPHVWFERSEMKDRHLVTKRLKEHIADKKKLPILIFPEGTCINNTSVMMF
KKGSFEIGGTIHPVAIKYNPQFGDAFWNSSKYNMVSYLLRMMTSWAIVCDVWYMPPMTREEGEDAVQFANRVKSAIAIQGGLTELPWDGGLKRAKVKDIFKEEQQ
KNYSKMIVGNGSLS
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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) No 0 (0) 0 (1) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top