EuRBPDB

Description

Ensembl ID: ENSG00000148690 (Gene tree)
Gene ID: 118924
Gene Symbol: FRA10AC1
Alias: C10orf4
Full Name: FRA10A associated CGG repeat 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 34,690 bases
Position: chr10:93,667,883-93,702,572
Accession: 1162
RBP type: non-canonical RBP
Summary: The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & Hela	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000483229	FRA10AC1-206	398	-	-	- (aa)	-	-
ENST00000359204	FRA10AC1-201	3089	-	ENSP00000360488	315 (aa)	-	Q70Z53
ENST00000472153	FRA10AC1-204	262	-	-	- (aa)	-	-
ENST00000482719	FRA10AC1-205	645	-	-	- (aa)	-	-
ENST00000462771	FRA10AC1-203	1064	-	-	- (aa)	-	-
ENST00000460752	FRA10AC1-202	4780	-	-	- (aa)	-	-

Gene Model

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000148690	Platelet Function Tests	1.6447000E-014	-
ENSG00000148690	Platelet Function Tests	9.7944000E-009	-
ENSG00000148690	Platelet Function Tests	1.3885000E-011	-
ENSG00000148690	Platelet Function Tests	4.6654000E-007	-
ENSG00000148690	Bronchodilator Agents	3E-6	26634245
ENSG00000148690	Lung Volume Measurements	3E-6	26634245
ENSG00000148690	amyloid beta-protein (1-42)	8E-11	26252872
ENSG00000148690	Cerebrospinal Fluid	8E-11	26252872
ENSG00000148690	efavirenz	5E-6	25461247
ENSG00000148690	Virus Diseases	5E-6	25461247
ENSG00000148690	HIV-1	5E-6	25461247

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000148690	rs140546855	10	93676847	?	DNA methylation variation (age effect)	30348214			GO_0006306

Protein-Protein Interaction (PPI)

* RBP PPI network refers to all genes directly bind to RBP

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0005515	protein binding	16169070.22365833.	IPI	Function
GO:0005634	nucleus	-	IEA	Component