AutismKB 2.0

Evidence Details for MAGEF1


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Basic Information Top
Gene Symbol:MAGEF1 ( MGC19617 )
Gene Full Name: melanoma antigen family F, 1
Band: 3q27.1
Quick LinksEntrez ID:64110; OMIM: 609267; Uniprot ID:MAGF1_HUMAN; ENSEMBL ID: ENSG00000177383; HGNC ID: 29639
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAGEF1|64110|nucleotide
ATGTTGCAGACACCAGAGAGCAGGGGGCTCCCGGTCCCGCAGGCCGAGGGGGAGAAGGATGGCGGCCATGATGGTGAGACCCGGGCCCCGACCGCCTCGCAGGAG
CGCCCCAAGGAGGAGCTTGGCGCCGGGAGGGAGGAGGGGGCTGCGGAGCCCGCCCTCACCCGGAAAGGCGCGAGGGCCTTGGCGGCCAAAGCCTTGGCAAGGCGC
AGGGCCTACCGCCGGCTGAATCGGACGGTGGCGGAGTTGGTGCAGTTCCTCCTGGTGAAAGACAAGAAGAAGAGTCCCATCACACGCTCGGAGATGGTGAAATAC
GTTATTGGAGACTTGAAGATTCTGTTCCCGGACATCATCGCAAGGGCCGCAGAGCATCTGCGGTATGTCTTTGGTTTTGAGCTGAAACAGTTTGACCGCAAGCAC
CACACTTACATCCTGATCAACAAACTAAAACCTCTGGAGGAGGAGGAGGAGGAGGATCTGGGAGGAGATGGCCCCAGATTGGGTCTGTTAATGATGATCCTGGGC
CTTATCTATATGAGAGGTAATAGCGCCAGGGAGGCCCAGGTCTGGGAGATGCTGCGTCGGTTGGGGGTGCAACCCTCAAAGTATCATTTCCTCTTTGGGTATCCG
AAGAGGCTTATTATGGAAGATTTTGTGCAGCAGCGATATCTCAGTTACAGGCGGGTGCCTCACACCAATCCACCAGAATATGAATTCTCTTGGGGTCCCCGAAGC
AACCTGGAAATCAGCAAGATGGAAGTCCTGGGGTTCGTGGCCAAACTGCATAAGAAGGAACCGCAGCACTGGCCAGTGCAGTACCGTGAGGCCCTAGCAGACGAG
GCCGACAGGGCCAGAGCCAAGGCCAGAGCTGAAGCCAGTATGAGGGCCAGGGCCAGTGCTAGGGCCGGCATCCACCTCTGGTGA


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>MAGEF1|64110|protein
MLQTPESRGLPVPQAEGEKDGGHDGETRAPTASQERPKEELGAGREEGAAEPALTRKGARALAAKALARRRAYRRLNRTVAELVQFLLVKDKKKSPITRSEMVKY
VIGDLKILFPDIIARAAEHLRYVFGFELKQFDRKHHTYILINKLKPLEEEEEEDLGGDGPRLGLLMMILGLIYMRGNSAREAQVWEMLRRLGVQPSKYHFLFGYP
KRLIMEDFVQQRYLSYRRVPHTNPPEYEFSWGPRSNLEISKMEVLGFVAKLHKKEPQHWPVQYREALADEADRARAKARAEASMRARASARAGIHLW


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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) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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