AutismKB

Evidence Detail for NTF3


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Basic Information Top
Gene Symbol:NTF3 ( HDNF,MGC129711,NGF-2,NGF2,NT3 )
Gene Full Name: neurotrophin 3
Band: 12p13
Quick LinksEntrez ID:4908; OMIM: 162660; Uniprot ID:NTF3_HUMAN; ENSEMBL ID: ENSG00000185652
Sequences Top
>NTF3|4908|nucleotide
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>NTF3|4908|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 2 (3) 19 (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 2 (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). SP, PACAP, NGF, and NT3 were not different by diagnostic group.
Nelson, 2006_1 human neonatal blood--AD protein expression
  • Subjects: -
  • Normal Controls: -
  • Methods: double-antibody immunoaffinity assay (Luminex) and ELISA technology
  • Evidence Details: In samples from autistic subjects, NT-3 levels were significantly lower than controls and an increase in VIP approached statistical significance.
Sajdel-Sulkowska, 2009_1 human postmortem frozen cerebellar tissue--- protein expression
  • Subjects: 8 (1 female, 7 male)
  • Normal Controls: 7 (3 female, 4 male)
  • Methods: ELISA
  • Evidence Details: Analysis of cerebellar NT-3 showed a significant (p = 0.034) increase (40.3%) in autism. Furthermore, there was a significant positive correlation between cerebellar NT-3 and 3-NT (r = 0.83; p = 0.0408).
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000363 12 12p13.31 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
Linkage Studies Top

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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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