Evidence Details for MDGA2
Basic Information Top
| Gene Symbol: | MDGA2 ( MAMDC1,c14_5286 ) |
|---|---|
| Gene Full Name: | MAM domain containing glycosylphosphatidylinositol anchor 2 |
| Band: | 14q21.3 |
| Quick Links | Entrez 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
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ATGAGTGTGTGGAGTGCGGGGCTCCTGCGCTCCGCTCGCCGCCGCCGCCGGGGAAGGACAGACGGACGGCGCTTCCTCCTTCGGCGAGCGGTTCCCGGGCACCTC
GGCTTGGCCCGGGCGCGAGTGGAGCGCGCCTGGCTGGCCGCCGGCCTCCTGAAGGTCCCGTTGCGTACCCCCTGGGCTGGATATGTTCATGTTCACGTGAAGATG
GATTTACTGTACGGTCTCGTGTGGCTGCTGACAGTCCTCCTGGAGGGGATCTCTGGCCAAGGAGTGTACGCTCCTCCCACGGTTCGTATTGTGCACTCAGGCTTG
GCCTGTAACATTGAAGAGGAGCGCTACTCCGAAAGGGTCTACACTATCCGGGAAGGAGAAACCCTTGAGTTGACTTGTCTAGTCACAGGACATCCACGTCCACAG
ATCAGGTGGACCAAAACAGCAGGAAGTGCCTCTGACAGATTCCAAGACTCAAGTGTCTTCAATGAGACTTTGAGGATTACAAATATTCAGCGACACCAAGGAGGC
CGGTATTACTGTAAAGCAGAGAATGGCTTGGGGTCTCCAGCGATAAAGTCAATCAGAGTGGATGTATACTATTTGGATGATCCAGTAGTAACTGTTCATCAAAGT
ATAGGTGAAGCTAAAGAACAATTTTACTATGAGAGAACAGTGTTCCTCCGGTGTGTTGCCAATTCCAATCCTCCTGTTCGGTATAGCTGGAGACGTGGCCAGGAG
GTCTTGCTGCAAGGATCTGATAAAGGAGTTGAGATTTATGAACCATTCTTTACCCAGGGTGAAACAAAGATCTTAAAACTAAAGAATCTTCGACCTCAGGACTAT
GCTAATTATAGCTGCATTGCTTCAGTGAGGAATGTATGTAATATTCCTGATAAGATGGTGTCGTTTAGACTGTCCAATAAAACAGCATCACCGTCAATTAAACTC
TTGGTGGATGATCCTATAGTTGTAAATCCTGGAGAGGCCATAACATTAGTATGTGTTACAACAGGAGGAGAGCCTGCACCTTCTCTCACCTGGGTCAGGTCCTTT
GGGACTCTGCCTGAAAAGACTGTTTTGAATGGAGGAACTTTGACCATACCTGCCATCACCTCAGATGATGCTGGTACTTACAGCTGCATTGCCAATAATAATGTG
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>MDGA2|161357|protein
MSVWSAGLLRSARRRRRGRTDGRRFLLRRAVPGHLGLARARVERAWLAAGLLKVPLRTPWAGYVHVHVKMDLLYGLVWLLTVLLEGISGQGVYAPPTVRIVHSGL
ACNIEEERYSERVYTIREGETLELTCLVTGHPRPQIRWTKTAGSASDRFQDSSVFNETLRITNIQRHQGGRYYCKAENGLGSPAIKSIRVDVYYLDDPVVTVHQS
IGEAKEQFYYERTVFLRCVANSNPPVRYSWRRGQEVLLQGSDKGVEIYEPFFTQGETKILKLKNLRPQDYANYSCIASVRNVCNIPDKMVSFRLSNKTASPSIKL
LVDDPIVVNPGEAITLVCVTTGGEPAPSLTWVRSFGTLPEKTVLNGGTLTIPAITSDDAGTYSCIANNNVGNPAKKSTNIIVRALKKGRFWITPDPYHKDDNIQI
GREVKISCQVEAVPSEELTFSWFKNGRPLRSSERMVITQTDPDVSPGTTNLDIIDLKFTDFGTYTCVASLKGGGISDISIDVNISSSTVPPNLTVPQEKSPLVTR
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MSVWSAGLLRSARRRRRGRTDGRRFLLRRAVPGHLGLARARVERAWLAAGLLKVPLRTPWAGYVHVHVKMDLLYGLVWLLTVLLEGISGQGVYAPPTVRIVHSGL
ACNIEEERYSERVYTIREGETLELTCLVTGHPRPQIRWTKTAGSASDRFQDSSVFNETLRITNIQRHQGGRYYCKAENGLGSPAIKSIRVDVYYLDDPVVTVHQS
IGEAKEQFYYERTVFLRCVANSNPPVRYSWRRGQEVLLQGSDKGVEIYEPFFTQGETKILKLKNLRPQDYANYSCIASVRNVCNIPDKMVSFRLSNKTASPSIKL
LVDDPIVVNPGEAITLVCVTTGGEPAPSLTWVRSFGTLPEKTVLNGGTLTIPAITSDDAGTYSCIANNNVGNPAKKSTNIIVRALKKGRFWITPDPYHKDDNIQI
GREVKISCQVEAVPSEELTFSWFKNGRPLRSSERMVITQTDPDVSPGTTNLDIIDLKFTDFGTYTCVASLKGGGISDISIDVNISSSTVPPNLTVPQEKSPLVTR
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Evidence summary TopClick 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 TopGenome-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_3 | Discovery | Illumina Human 1M-single Infinium BeadChip | 897 | 909 (-) |  | | ASD | - - |
- - | ||
| Anney, 2010_4 | Replication | Illumina Human 1M-single Infinium BeadChip | 476 | 702 (-) | | | 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 microarray | |  | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.