AutismKB

Evidence Detail for FHIT


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Basic Information Top
Gene Symbol:FHIT ( AP3Aase,FRA3B )
Gene Full Name: fragile histidine triad gene
Band: 3p14.2
Quick LinksEntrez ID:2272; OMIM: 601153; Uniprot ID:FHIT_HUMAN; ENSEMBL ID: ENSG00000189283
Sequences Top
>FHIT|2272|nucleotide
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>FHIT|2272|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 2 (2) 0 (0) 2 (7) 0 (0) 0 (0) 0 (0) 16 (2)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Salyakina, 2010_2 Replication 1 (detail) 110 -
(-)
AS -
(3-21)
-
>70
Salyakina, 2010_1 Discovery 1 (detail) 124 -
(-)
AS -
(3-21)
-
>70
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
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000004 3 3p14.2 loss 1 - Denovo CNVs; Sebat, 2007
AutCNV0000005 3 3p14.2 gain 1 - Denovo CNVs; Sebat, 2007
AutCNV0000336 3 3p14 loss 2 - CNVs Not Present In Control; Denovo CNVs; Bucan, 2009
AutCNV0001658 3 3p14.2 loss 1 - paternal Pinto, 2010
AutCNV0001659 3 3p14.2 gain 1 - paternal Pinto, 2010
AutCNV0003173 3 3p14.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003174 3 3p14.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003175 3 3p14.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003523 3 3p14.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003898 3 3p14.2 loss 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0004221 3 3p14.2 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004222 3 3p14.2 gain 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004487 3 3p14.2 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004507 3 3p14.2 loss - - CNVs Only Present In Patients; Nord, 2011
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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