AutismKB 2.0

Evidence Details for MAGED4


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Basic Information Top
Gene Symbol:MAGED4 ( FLJ39060,KIAA1859,MAGE-E1,MAGE1,MAGEE1,MGC3210 )
Gene Full Name: melanoma antigen family D, 4
Band: Xp11.22
Quick LinksEntrez ID:728239; OMIM: 300702; Uniprot ID:MAGD4_HUMAN; ENSEMBL ID: ENSG00000154545; HGNC ID: 23793
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAGED4|728239|nucleotide
ATGGCTGAGGGAAGCTTCAGCGTGCAATCGGAAAGCTACAGTGTTGAAGACATGGATGAGGGTAGCGACGAAGTCGGGGAGGAAGAGATGGTTGAAGGCAACGAC
TATGAAGAATTCGGTGCGTTTGGTGGCTATGGCACCCTCACCAGCTTTGACATCCATATCCTCAGAGCCTTCGGAAGCTTGGGTCCAGGCCTTCGCATCTTATCG
AATGAGCCCTGGGAACTGGAAAACCCTGTGCTGGCCCAGACCCTGGTGGAGGCATTGCAGCTGGATCCGGAAACACTTGCCAATGAGACGGCCGCCCGTGCTGCC
AACGTAGCCCGCGCCGCCGCCTCCAACCGTGCGGCTCGGGCCGCTGCCGCCGCTGCCCGTACCGCCTTCAGTCAGGTGGTCGCTAGCCACCGGGTGGCCACGCCG
CAGGTCTCAGGAGAGGATACCCAGCCCACGACCTACGCCGCCGAGGCTCAGGGGCCCACCCCTGAGCCACCCCTTGCTTCTCCGCAGACCTCCCAGATGTTAGTC
ACCAGTAAGATGGCTGCCCCCGAGGCTCCGGCAACCTCCGCACAGTCCCAGACAGGCTCCCCGGCCCAGGAGGCTGCTACTGAGGGCCCTAGTAGCGCCTGTGCT
TTCTCTCAGGCTCCGTGTGCCAGGGAGGTGGACGCCAACCGGCCCAGCACAGCCTTCCTGGGCCAGAATGATGTCTTCGATTTCACTCAGCCGGCAGGTGTCAGT
GGCATGGCCTTCCCGCGCCCCAAGAGACCTGCCCCAGCCCAAGAGGCTGCCACAGAGGGCCCCAGTGCTGCCTCTGGTGTGCCCCAGACGGGACCTGGCAGGGAG
GTGGCAGCCACCCGGCCCAAGACCACCAAGTCGGGGAAGGCGCTGGCCAAGACTCGGTGGGTGGAGCCTCAGAATGTTGTGGCAGCAGCTGCTGCCAAGGCCAAG
ATGGCCACGAGCATCCCTGAGCCGGAGGGTGCAGCTGCTGCCACTGCTCAGCACAGTGCTGAGCCCTGGGCCAGGATGGGAGGCAAGAGGACCAAGAAGTCCAAG
CACCTGGATGATGAGTATGAGAGCAGCGAGGAGGAGAGAGAGACTCCCGCGGTCCCACCCACCTGGAGAGCATCACAGCCCTCATTGACGGTGCGGGCTCAGTTG
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>MAGED4|728239|protein
MAEGSFSVQSESYSVEDMDEGSDEVGEEEMVEGNDYEEFGAFGGYGTLTSFDIHILRAFGSLGPGLRILSNEPWELENPVLAQTLVEALQLDPETLANETAARAA
NVARAAASNRAARAAAAAARTAFSQVVASHRVATPQVSGEDTQPTTYAAEAQGPTPEPPLASPQTSQMLVTSKMAAPEAPATSAQSQTGSPAQEAATEGPSSACA
FSQAPCAREVDANRPSTAFLGQNDVFDFTQPAGVSGMAFPRPKRPAPAQEAATEGPSAASGVPQTGPGREVAATRPKTTKSGKALAKTRWVEPQNVVAAAAAKAK
MATSIPEPEGAAAATAQHSAEPWARMGGKRTKKSKHLDDEYESSEEERETPAVPPTWRASQPSLTVRAQLAPRPPMAPRSQIPSRHVLCLPPRNVTLLQERANKL
VKYLMIKDYKKIPIKRADMLKDVIREYDEHFPEIIERATYTLEKKFGIHLKEIDKEEHLYILVCTRDSSARLLGKTKDTPRLSLLLVILGVIFMNGNRASEAVLW
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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 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 Austria FISH, aCGHautism - - - - 1 - 1
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
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
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.

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  (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