Evidence Detail for FEZF2

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Basic Information Top

Gene Symbol:	FEZF2 ( FEZ,FEZL,FLJ10142,TOF,ZFP312,ZNF312 )
Gene Full Name:	FEZ family zinc finger 2
Band:	3p14.2
Quick Links	Entrez ID:55079; OMIM: 607414; Uniprot ID:FEZF2_HUMAN; ENSEMBL ID: ENSG00000153266

Sequences Top

nucleotide Sequence
Protein Sequence

>FEZF2|55079|nucleotide
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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	2 (2)	1 (1)	1 (1)	0 (0)	0 (0)	1 (1)	22 (4)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Population	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Stage	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Wang, 2009_1	Discovery	1 (detail)	780	1299 (-)			ASD	- -	- -

Case Control Based Association Studies: 1

Reference	Stage	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Stage	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Wang, 2009_2	Discovery	1 (detail)	1204 (-)			ASD	10.3±6.6 -	10.9±6.7	6491 (-)	8.8±5.4 -

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
Sanders, 2012_1	human	blood			ASD	Mutation screen
Subjects: 238 simplex pedigrees Normal Controls: - Methods: direct sequencing Evidence Details: De novo functional mutation was found in this gene locus

Large Scale Expression Studies Top

Microarray Studies: 1

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
Voineagu, 2011_1	Unknown	16 frontal cortex(BA9) and 13 temporal cortex(BA41	16 (25.00%)			-	autism	16 (6.25%)	0.975232	Down	61.3875
Platform: Illumina Ref8 v3 microarrays ProbeSet: ILMN_1750706 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.

Proteomics Studies:0

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs		Evidence Type	Reference
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
AutCNV0000336	3	3p14	loss	2	-	CNVs Not Present In Control; Denovo CNVs;	Bucan, 2009

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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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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