AutismKB 2.0

Evidence Details for MDGA2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MDGA2 ( MAMDC1,c14_5286 )
Gene Full Name: MAM domain containing glycosylphosphatidylinositol anchor 2
Band: 14q21.3
Quick LinksEntrez ID:161357; OMIM: 611128; Uniprot ID:MDGA2_HUMAN; ENSEMBL ID: ENSG00000139915; HGNC ID: 19835
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MDGA2|161357|nucleotide
ATGAGTGTGTGGAGTGCGGGGCTCCTGCGCTCCGCTCGCCGCCGCCGCCGGGGAAGGACAGACGGACGGCGCTTCCTCCTTCGGCGAGCGGTTCCCGGGCACCTC
GGCTTGGCCCGGGCGCGAGTGGAGCGCGCCTGGCTGGCCGCCGGCCTCCTGAAGGTCCCGTTGCGTACCCCCTGGGCTGGATATGTTCATGTTCACGTGAAGATG
GATTTACTGTACGGTCTCGTGTGGCTGCTGACAGTCCTCCTGGAGGGGATCTCTGGCCAAGGAGTGTACGCTCCTCCCACGGTTCGTATTGTGCACTCAGGCTTG
GCCTGTAACATTGAAGAGGAGCGCTACTCCGAAAGGGTCTACACTATCCGGGAAGGAGAAACCCTTGAGTTGACTTGTCTAGTCACAGGACATCCACGTCCACAG
ATCAGGTGGACCAAAACAGCAGGAAGTGCCTCTGACAGATTCCAAGACTCAAGTGTCTTCAATGAGACTTTGAGGATTACAAATATTCAGCGACACCAAGGAGGC
CGGTATTACTGTAAAGCAGAGAATGGCTTGGGGTCTCCAGCGATAAAGTCAATCAGAGTGGATGTATACTATTTGGATGATCCAGTAGTAACTGTTCATCAAAGT
ATAGGTGAAGCTAAAGAACAATTTTACTATGAGAGAACAGTGTTCCTCCGGTGTGTTGCCAATTCCAATCCTCCTGTTCGGTATAGCTGGAGACGTGGCCAGGAG
GTCTTGCTGCAAGGATCTGATAAAGGAGTTGAGATTTATGAACCATTCTTTACCCAGGGTGAAACAAAGATCTTAAAACTAAAGAATCTTCGACCTCAGGACTAT
GCTAATTATAGCTGCATTGCTTCAGTGAGGAATGTATGTAATATTCCTGATAAGATGGTGTCGTTTAGACTGTCCAATAAAACAGCATCACCGTCAATTAAACTC
TTGGTGGATGATCCTATAGTTGTAAATCCTGGAGAGGCCATAACATTAGTATGTGTTACAACAGGAGGAGAGCCTGCACCTTCTCTCACCTGGGTCAGGTCCTTT
GGGACTCTGCCTGAAAAGACTGTTTTGAATGGAGGAACTTTGACCATACCTGCCATCACCTCAGATGATGCTGGTACTTACAGCTGCATTGCCAATAATAATGTG
Show »

>MDGA2|161357|protein
MSVWSAGLLRSARRRRRGRTDGRRFLLRRAVPGHLGLARARVERAWLAAGLLKVPLRTPWAGYVHVHVKMDLLYGLVWLLTVLLEGISGQGVYAPPTVRIVHSGL
ACNIEEERYSERVYTIREGETLELTCLVTGHPRPQIRWTKTAGSASDRFQDSSVFNETLRITNIQRHQGGRYYCKAENGLGSPAIKSIRVDVYYLDDPVVTVHQS
IGEAKEQFYYERTVFLRCVANSNPPVRYSWRRGQEVLLQGSDKGVEIYEPFFTQGETKILKLKNLRPQDYANYSCIASVRNVCNIPDKMVSFRLSNKTASPSIKL
LVDDPIVVNPGEAITLVCVTTGGEPAPSLTWVRSFGTLPEKTVLNGGTLTIPAITSDDAGTYSCIANNNVGNPAKKSTNIIVRALKKGRFWITPDPYHKDDNIQI
GREVKISCQVEAVPSEELTFSWFKNGRPLRSSERMVITQTDPDVSPGTTNLDIIDLKFTDFGTYTCVASLKGGGISDISIDVNISSSTVPPNLTVPQEKSPLVTR
Show »

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 1 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 6 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Anney, 2010_4 Replication Illumina Human 1M-single Infinium BeadChip 476 702
(-)
ASD -
-
-
-
Anney, 2010_3 Discovery Illumina Human 1M-single Infinium BeadChip 897 909
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top