AutismKB 2.0

Evidence Details for MAG


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Basic Information Top
Gene Symbol:MAG ( GMA,S-MAG,SIGLEC-4A,SIGLEC4A )
Gene Full Name: myelin associated glycoprotein
Band: 19q13.1
Quick LinksEntrez ID:4099; OMIM: 159460; Uniprot ID:MAG_HUMAN; ENSEMBL ID: ENSG00000105695; HGNC ID: 6783
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAG|4099|nucleotide
ATGCCCTCGTCCATCTCGGCCTTCGAAGGCACGTGCGTCTCCATCCCCTGCCGCTTTGACTTCCCGGATGAGCTGCGGCCCGCTGTGGTGCATGGTGTCTGGTAC
TTCAATAGCCCCTACCCCAAGAACTACCCCCCGGTGGTCTTCAAGTCGCGCACCCAAGTAGTCCACGAGAGCTTCCAGGGCCGCAGCCGCCTCCTGGGGGACCTG
GGCCTGCGAAACTGCACCCTCCTGCTCAGCAACGTCAGCCCCGAGCTGGGCGGGAAGTACTACTTCCGTGGGGACCTGGGCGGCTACAACCAGTACACCTTCTCA
GAGCACAGCGTCCTGGATATCGTCAACACCCCCAACATCGTGGTGCCCCCAGAGGTGGTGGCAGGCACGGAGGTGGAGGTCAGCTGCATGGTGCCGGACAACTGC
CCAGAGCTGCGCCCTGAGCTGAGCTGGCTGGGCCACGAGGGGCTGGGGGAGCCCGCTGTGCTGGGCCGGCTGCGGGAGGACGAGGGCACCTGGGTGCAGGTGTCA
CTGCTGCACTTCGTGCCCACGAGGGAGGCCAACGGCCACAGGCTGGGCTGCCAGGCCTCCTTCCCCAACACCACCCTGCAGTTCGAGGGCTACGCCAGCATGGAC
GTCAAGTACCCCCCGGTGATTGTGGAGATGAACTCCTCGGTGGAGGCCATCGAGGGCTCCCACGTGAGCCTGCTCTGTGGGGCTGACAGCAACCCCCCGCCGCTG
CTGACCTGGATGCGGGACGGGACAGTCCTCCGGGAGGCGGTGGCCGAGAGCCTGCTCCTGGAGCTGGAGGAGGTGACCCCCGCCGAAGACGGCGTCTATGCCTGC
CTGGCCGAGAATGCCTATGGCCAGGACAACCGCACCGTGGGGCTCAGTGTCATGTATGCACCCTGGAAGCCAACAGTGAACGGGACAATGGTGGCCGTAGAGGGG
GAGACGGTCTCTATCTTGTGCTCCACACAGAGCAACCCGGACCCTATTCTCACCATCTTCAAGGAGAAGCAGATCCTGTCCACGGTCATCTACGAGAGCGAGCTG
CAGCTGGAGCTGCCGGCCGTGTCACCCGAGGATGATGGAGAGTACTGGTGTGTGGCTGAGAACCAGTATGGCCAGAGGGCCACCGCCTTCAACCTGTCTGTGGAG
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>MAG|4099|protein
MPSSISAFEGTCVSIPCRFDFPDELRPAVVHGVWYFNSPYPKNYPPVVFKSRTQVVHESFQGRSRLLGDLGLRNCTLLLSNVSPELGGKYYFRGDLGGYNQYTFS
EHSVLDIVNTPNIVVPPEVVAGTEVEVSCMVPDNCPELRPELSWLGHEGLGEPAVLGRLREDEGTWVQVSLLHFVPTREANGHRLGCQASFPNTTLQFEGYASMD
VKYPPVIVEMNSSVEAIEGSHVSLLCGADSNPPPLLTWMRDGTVLREAVAESLLLELEEVTPAEDGVYACLAENAYGQDNRTVGLSVMYAPWKPTVNGTMVAVEG
ETVSILCSTQSNPDPILTIFKEKQILSTVIYESELQLELPAVSPEDDGEYWCVAENQYGQRATAFNLSVEFAPVLLLESHCAAARDTVQCLCVVKSNPEPSVAFE
LPSRNVTVNESEREFVYSERSGLVLTSILTLRGQAQAPPRVICTARNLYGAKSLELPFQGAHRLMWAKIGPVGAVVAFAILIAIVCYITQTRRKKNVTESPSFSA
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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) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 0
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
No Evidence.
Proteomics Studies:1
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
Broek JA, 2014_1 Unknown brain selected reaction monitoring mass spectrometry 16
(18.75%)
ASD 18
(27.78%)
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

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.

Simple Query:


  (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