AutismKB

Evidence Detail for GALNTL4


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Basic Information Top
Gene Symbol:GALNTL4 ( GALNT15,GALNT18,GalNAc-T15,MGC71806 )
Gene Full Name: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4
Band: 11p15.3
Quick LinksEntrez ID:374378; OMIM: ; Uniprot ID:GLTL4_HUMAN; ENSEMBL ID: ENSG00000110328
Sequences Top
>GALNTL4|374378|nucleotide
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>GALNTL4|374378|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 14 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Ma, 2009_1 Discovery 2 (detail) 438 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Iossifov, 2012_1 human bloodASD Mutation screen
  • Subjects: 343 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000133 11p15.3 11 D11S1999/D11S1349 - - 0.00422 Lauritsen, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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