Evidence Detail for RFX4

View Evidences	View Annotations

Basic Information Top

Gene Symbol:	RFX4 ( NYD-SP10 )
Gene Full Name:	regulatory factor X, 4 (influences HLA class II expression)
Band:	12q24
Quick Links	Entrez ID:5992; OMIM: 603958; Uniprot ID:RFX4_HUMAN; ENSEMBL ID: ENSG00000111783

Sequences Top

nucleotide Sequence
Protein Sequence

>RFX4|5992|nucleotide
Show »

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)	1 (1)	1 (1)	1 (1)	0 (0)	0 (0)	4 (2)

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

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

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
No Evidence.

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
Garbett, 2008_1	Unknown	superior temporal gyrus (STG)	6 (33.33%)	-	-	-	autism	6 (33.33%)	1.528	Up	0.0200219
Platform: Affymetrix Human Genome 133 plus 2 microarrays ProbeSet: 223673_at RefSeq_ID/ EST: - GEO_ID: - Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples

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
AutCNV0000102	12	12q12-24.33	gain	1	-	Overlapping/Recurrent CNVs;	Szatmari, 2007

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
AutLD0000023	12q23.3	12	D12S338	1.05	-	-	Bailey, 1998

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:

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
Click to Download Data