AutismKB 2.0

Evidence Details for GPD2


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Basic Information Top
Gene Symbol:GPD2 ( GDH2,GPDM,mGPDH )
Gene Full Name: glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
Band: 2q24.1
Quick LinksEntrez ID:2820; OMIM: 138430; Uniprot ID:GPDM_HUMAN; ENSEMBL ID: ENSG00000115159; HGNC ID: 4456
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GPD2|2820|nucleotide
ATGGCATTTCAAAAGGCAGTGAAAGGGACGATTCTTGTTGGAGGAGGTGCTCTTGCAACTGTTTTAGGACTTTCTCAGTTTGCTCATTACAGAAGGAAACAAATG
AACCTGGCCTATGTTAAAGCAGCAGACTGCATTTCAGAACCAGTTAACAGGGAGCCTCCTTCCAGAGAAGCTCAGCTACTGACTTTGCAAAACACATCTGAATTT
GATATCCTTGTTATTGGAGGAGGAGCAACAGGAAGTGGCTGTGCGCTAGATGCTGTCACCAGAGGACTAAAAACAGCCCTTGTAGAAAGAGATGATTTCTCATCA
GGGACCAGCAGCAGAAGCACTAAATTGATCCATGGTGGTGTGAGATATCTGCAGAAGGCCATCATGAAGTTGGATATTGAGCAGTATAGGATGGTAAAAGAAGCC
CTTCATGAGCGTGCCAACCTGCTAGAAATTGCTCCCCATTTATCAGCTCCATTGCCTATAATGCTTCCAGTTTACAAGTGGTGGCAGTTACCTTACTACTGGGTA
GGAATCAAGCTGTATGATTTGGTTGCAGGAAGCAATTGCCTAAAAAGCAGTTATGTCCTCAGCAAATCAAGAGCCCTTGAACATTTCCCAATGCTCCAGAAGGAC
AAACTGGTAGGAGCAATTGTCTACTATGACGGACAACATAACGATGCACGGATGAACCTTGCCATTGCTCTGACTGCTGCCAGGTATGGGGCTGCCACAGCCAAT
TACATGGAGGTAGTGAGCTTGCTCAAGAAGACAGACCCCCAGACAGGGAAAGTGCGTGTGAGCGGCGCACGGTGCAAGGATGTCCTCACAGGGCAGGAATTTGAC
GTGAGAGCCAAATGTGTTATCAATGCCACGGGACCTTTCACGGACTCTGTGCGCAAAATGGATGATAAAGACGCAGCAGCTATCTGCCAGCCAAGTGCTGGTGTC
CATATTGTGATGCCTGGTTATTACAGCCCAGAGAGCATGGGACTTCTTGACCCAGCGACCAGTGATGGGCGAGTTATTTTCTTCTTACCCTGGCAAAAGATGACG
ATCGCTGGCACTACTGATACTCCAACTGATGTTACACACCATCCAATTCCTTCAGAAGAAGATATCAACTTCATTTTGAATGAAGTGCGTAATTACCTGAGTTGT
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>GPD2|2820|protein
MAFQKAVKGTILVGGGALATVLGLSQFAHYRRKQMNLAYVKAADCISEPVNREPPSREAQLLTLQNTSEFDILVIGGGATGSGCALDAVTRGLKTALVERDDFSS
GTSSRSTKLIHGGVRYLQKAIMKLDIEQYRMVKEALHERANLLEIAPHLSAPLPIMLPVYKWWQLPYYWVGIKLYDLVAGSNCLKSSYVLSKSRALEHFPMLQKD
KLVGAIVYYDGQHNDARMNLAIALTAARYGAATANYMEVVSLLKKTDPQTGKVRVSGARCKDVLTGQEFDVRAKCVINATGPFTDSVRKMDDKDAAAICQPSAGV
HIVMPGYYSPESMGLLDPATSDGRVIFFLPWQKMTIAGTTDTPTDVTHHPIPSEEDINFILNEVRNYLSCDVEVRRGDVLAAWSGIRPLVTDPKSADTQSISRNH
VVDISESGLITIAGGKWTTYRSMAEDTINAAVKTHNLKAGPSRTVGLFLQGGKDWSPTLYIRLVQDYGLESEVAQHLAATYGDKAFEVAKMASVTGKRWPIVGVR
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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 3 (2) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 12 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
No Evidence.
Case Control Based Association Studies: 2
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
CAUCASIAN
Maestrini, 2009_4 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 126
(18.25%)		ASD -
-		 - 188
(18.09%)		 -
-
MIXED/OTHERS
Kuo PH, 2015_1 Discovery Affymetrix SNP array 6.0 597
(-)		ASD -
-		 - 1595
(-)		 -
-
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top