AutismKB

Evidence Detail for NTF4


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Basic Information Top
Gene Symbol:NTF4 ( GLC10,GLC1O,NT-4/5,NT4,NT5,NTF5 )
Gene Full Name: neurotrophin 4
Band: 19q13.3
Quick LinksEntrez ID:4909; OMIM: 162662; Uniprot ID:NTF4_HUMAN; ENSEMBL ID: ENSG00000167744
Sequences Top
>NTF4|4909|nucleotide
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>NTF4|4909|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 0 (0) 0 (0) 1 (1) 1 (1) 1 (1) 2 (2) 20 (5)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Toma, 2012_1 Spanish 1 (detail) 326
(16.87%)
ASD 17
-
- 350
(16.86%)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Nelson, 2001_1 human neonatal blood--ASD protein expression
  • Subjects: 69
  • Normal Controls: 54
  • Methods: recycling immunoaffinity chromatography
  • Evidence Details: We used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values < 0.0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children.
Nelson, 2006_1 human neonatal blood--AD protein expression
  • Subjects: -
  • Normal Controls: -
  • Methods: double-antibody immunoaffinity assay (Luminex) and ELISA technology
  • Evidence Details: Concentrations of NT-4/5 and CGRP were correlated in infants with autism but not in Down syndrome or controls.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000648 19 19q13.33 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000119 19q13.33-13.41 19 - - 1.64 - Spence, 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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