EuRBPDB

Description

Ensembl ID: ENSG00000130638 (Gene tree)
Gene ID: 25814
Gene Symbol: ATXN10
Alias: E46L|FLJ37990|SCA10
Full Name: ataxin 10
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 173,510 bases
Position: chr22:45,671,798-45,845,307
Accession: 10549
RBP type: non-canonical RBP
Summary: This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
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
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000470722	ATXN10-207	391	-	-	- (aa)	-	-
ENST00000464482	ATXN10-206	439	-	-	- (aa)	-	-
ENST00000451241	ATXN10-205	514	-	-	- (aa)	-	-
ENST00000640901	ATXN10-212	1185	-	ENSP00000491659	395 (aa)	-	A0A1W2PQD2
ENST00000483549	ATXN10-209	778	-	-	- (aa)	-	-
ENST00000435026	ATXN10-204	653	-	ENSP00000391117	197 (aa)	-	B1AHE4
ENST00000381061	ATXN10-202	3135	-	ENSP00000370449	411 (aa)	-	Q9UBB4
ENST00000493643	ATXN10-210	617	-	-	- (aa)	-	-
ENST00000498009	ATXN10-211	873	-	-	- (aa)	-	-
ENST00000476998	ATXN10-208	482	-	-	- (aa)	-	-
ENST00000402380	ATXN10-203	564	-	ENSP00000385624	126 (aa)	-	B1AHE3
ENST00000252934	ATXN10-201	3329	-	ENSP00000252934	475 (aa)	-	Q9UBB4

Gene Model

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000130638	Platelet Function Tests	2.6500000E-006	-
ENSG00000130638	Platelet Function Tests	2.7115800E-005	-

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000130638	rs2071852	22	45718364	?	Lobe attachment (rater-scored or self-reported)	29198719			EFO_0007667
ENSG00000130638	rs11702966	22	45780795	?	Tonsillectomy	28928442	[0.038-0.085] unit increase	0.0616	EFO_0007924
ENSG00000130638	rs9614789	22	45822561	C	Facial morphology (factor 18)	28441456	[0.08-0.2] unit decrease	0.1397	EFO_0007841
ENSG00000130638	rs77114534	22	45705926	?	Heel bone mineral density	30048462	[0.031-0.052] unit decrease	0.0412245	EFO_0009270
ENSG00000130638	rs9626436	22	45755241	?	Heel bone mineral density	30048462	[0.013-0.025] unit decrease	0.0191863	EFO_0009270
ENSG00000130638	rs17653487	22	45803452	?	Adolescent idiopathic scoliosis	30019117			EFO_0005423
ENSG00000130638	rs79016257	22	45684371	G	Heel bone mineral density	30598549	[0.028-0.046] unit decrease	0.0367188	EFO_0009270
ENSG00000130638	rs9626436	22	45755241	C	Heel bone mineral density	30598549	[0.013-0.024] unit decrease	0.0189309	EFO_0009270
ENSG00000130638	rs138158	22	45723553	?	Heel bone mineral density	30595370			EFO_0009270

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	16498633.21565611.	IPI	Function
GO:0005615	extracellular space	23580065.	HDA	Component
GO:0005737	cytoplasm	15201271.	IDA	Component
GO:0005829	cytosol	-	IDA	Component
GO:0005886	plasma membrane	-	IDA	Component
GO:0007399	nervous system development	16385455.	IMP	Process
GO:0016020	membrane	19946888.	HDA	Component
GO:0019899	enzyme binding	-	IEA	Function
GO:0030425	dendrite	15201271.	IDA	Component
GO:0031175	neuron projection development	16498633.	IDA	Process
GO:0042802	identical protein binding	-	IEA	Function
GO:0043025	neuronal cell body	15201271.	IDA	Component
GO:0048471	perinuclear region of cytoplasm	15201271.16498633.	IDA	Component
GO:0060271	cilium assembly	-	IEA	Process
GO:0070207	protein homotrimerization	-	IEA	Process