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

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) 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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.829683 Down 0.239001
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1794875
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018