AutismKB 2.0

Evidence Details for MAGED1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MAGED1 ( DLXIN-1,NRAGE )
Gene Full Name: melanoma antigen family D, 1
Band: Xp11.22
Quick LinksEntrez ID:9500; OMIM: 300224; Uniprot ID:MAGD1_HUMAN; ENSEMBL ID: ENSG00000179222; HGNC ID: 6813
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAGED1|9500|nucleotide
ATGGCTCAGAAAATGGACTGTGGTGCGGGCCTCCTCGGCTTCCAGGCTGAGGCCTCCGTAGAAGACAGCGCCTTGCTTATGCAGACCTTGATGGAGGCCATCCAG
ATCTCAGAGGCTCCACCTACTAACCAGGCCACCGCAGCTGCTAGTCCCCAGAGTTCACAGCCCCCAACTGCCAATGAGATGGCTGACATTCAGGTTTCAGCAGCT
GCCGCTAGGCCTAAGTCAGCCTTTAAAGTCCAGAATGCCACCACAAAAGGCCCAAATGGTGTCTATGATTTCTCTCAGGCTCATAATGCCAAGGATGTGCCCAAC
ACGCAGCCCAAGGCAGCCTTTAAGTCCCAAAATGCTACCCCAAAGGGTCCAAATGCTGCCTATGATTTTTCCCAGGCAGCAACCACTGGTGAGTTAGCTGCTAAC
AAGTCTGAGATGGCCTTCAAGGCCCAGAATGCCACTACTAAAGTGGGCCCAAATGCCACCTACAATTTCTCTCAGTCTCTCAATGCCAATGACCTGGCCAACAGC
AGGCCTAAGACCCCTTTCAAGGCTTGGAATGATACCACTAAGGCCCCAACAGCTGATACCCAGACCCAGAATGTAAATCAGGCCAAAATGGCCACTTCCCAGGCT
GACATAGAGACCGACCCAGGTATCTCTGAACCTGACGGTGCAACTGCACAGACATCAGCAGATGGTTCCCAGGCTCAGAATCTGGAGTCCCGGACAATAATTCGG
GGCAAGAGGACCCGCAAGATTAATAACTTGAATGTTGAAGAGAACAGCAGTGGGGATCAGAGGCGGGCCCCACTGGCTGCAGGGACCTGGAGGTCTGCACCAGTT
CCAGTGACCACTCAGAACCCACCTGGCGCACCCCCCAATGTGCTCTGGCAGACGCCATTGGCTTGGCAGAACCCCTCAGGCTGGCAAAACCAGACAGCCAGGCAG
ACCCCACCAGCACGTCAGAGCCCTCCAGCTAGGCAGACCCCACCAGCCTGGCAGAACCCAGTCGCTTGGCAGAACCCAGTGATTTGGCCAAACCCAGTAATCTGG
CAGAACCCAGTGATCTGGCCAAACCCCATTGTCTGGCCCGGCCCTGTTGTCTGGCCGAATCCACTGGCCTGGCAGAATCCACCTGGATGGCAGACTCCACCTGGA
Show »

>MAGED1|9500|protein
MAQKMDCGAGLLGFQAEASVEDSALLMQTLMEAIQISEAPPTNQATAAASPQSSQPPTANEMADIQVSAAAARPKSAFKVQNATTKGPNGVYDFSQAHNAKDVPN
TQPKAAFKSQNATPKGPNAAYDFSQAATTGELAANKSEMAFKAQNATTKVGPNATYNFSQSLNANDLANSRPKTPFKAWNDTTKAPTADTQTQNVNQAKMATSQA
DIETDPGISEPDGATAQTSADGSQAQNLESRTIIRGKRTRKINNLNVEENSSGDQRRAPLAAGTWRSAPVPVTTQNPPGAPPNVLWQTPLAWQNPSGWQNQTARQ
TPPARQSPPARQTPPAWQNPVAWQNPVIWPNPVIWQNPVIWPNPIVWPGPVVWPNPLAWQNPPGWQTPPGWQTPPGWQGPPDWQGPPDWPLPPDWPLPPDWPLPT
DWPLPPDWIPADWPIPPDWQNLRPSPNLRPSPNSRASQNPGAAQPRDVALLQERANKLVKYLMLKDYTKVPIKRSEMLRDIIREYTDVYPEIIERACFVLEKKFG
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 0 (0) 1 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Chung, 2011 - SNP microarrayASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top