EuRBPDB

Basic Information
Cancer Related Information

Description

RBPome

Expression

Transcripts

Gene Model

Phenotypes

GWAS

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000163681 (Gene tree)
Gene ID: 7871
Gene Symbol: SLMAP
Alias: SLAP|KIAA1601
Full Name: sarcolemma associated protein
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 174,554 bases
Position: chr3:57,755,450-57,930,003
Accession: 16643
RBP type: non-canonical RBP
Summary: This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

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 & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	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
ENST00000459654	SLMAP-209	579	-	-	- (aa)	-	-
ENST00000465203	SLMAP-212	511	-	ENSP00000419849	170 (aa)	-	H7C5G9
ENST00000460223	SLMAP-210	855	-	ENSP00000420703	65 (aa)	-	H7C5S2
ENST00000449503	SLMAP-208	4027	XM_005265470	ENSP00000412945	790 (aa)	XP_005265527	Q14BN4
ENST00000428312	SLMAP-206	4132	XM_005265456	ENSP00000398661	828 (aa)	XP_005265513	Q14BN4
ENST00000383718	SLMAP-203	6749	XM_017007169	ENSP00000373224	506 (aa)	XP_016862658	Q14BN4
ENST00000494088	SLMAP-219	1305	XM_017007170	ENSP00000418218	318 (aa)	XP_016862659	B7Z863
ENST00000466255	SLMAP-213	587	-	ENSP00000420697	109 (aa)	-	C9JCH4
ENST00000416658	SLMAP-204	1570	-	ENSP00000389978	433 (aa)	-	H7BZK0
ENST00000476471	SLMAP-217	591	-	-	- (aa)	-	-
ENST00000295951	SLMAP-201	5433	XM_005265460	ENSP00000295951	811 (aa)	XP_005265517	Q14BN4
ENST00000417128	SLMAP-205	3066	-	ENSP00000412829	409 (aa)	-	H7C3M8
ENST00000295952	SLMAP-202	4420	-	ENSP00000295952	811 (aa)	-	Q14BN4
ENST00000438794	SLMAP-207	2274	-	ENSP00000391886	316 (aa)	-	H7BZW9
ENST00000472546	SLMAP-215	559	-	-	- (aa)	-	-
ENST00000467901	SLMAP-214	2698	-	-	- (aa)	-	-
ENST00000461354	SLMAP-211	565	-	ENSP00000417541	101 (aa)	-	C9JA20
ENST00000495364	SLMAP-220	1383	XM_011534106	ENSP00000419543	362 (aa)	XP_011532408	B7Z964
ENST00000497084	SLMAP-221	678	-	-	- (aa)	-	-
ENST00000481846	SLMAP-218	556	-	-	- (aa)	-	-
ENST00000475055	SLMAP-216	351	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000163681's gene model file

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000163681	Gestational Age	5E-6	23251661
ENSG00000163681	Alzheimer Disease	2E-6	27770636

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000163681	rs115317194	3	57830215	T	Late-onset Alzheimer's disease	27770636	[0.091-0.209] unit decrease	0.15	EFO_1001870
ENSG00000163681	rs6768930	3	57794109	G	Obesity-related traits	23251661	[NR] wk increase	0.05	EFO_0005112
ENSG00000163681	rs62259026	3	57760788	?	Lung function (FVC)	30595370			EFO_0004312
ENSG00000163681	rs7644486	3	57884236	C	Infantile hypertrophic pyloric stenosis	30281099	[1.13-1.27]	1.2	EFO_0004707
ENSG00000163681	rs7644486	3	57884236	C	Infantile hypertrophic pyloric stenosis	30281099	[1.13-1.26]	1.19	EFO_0004707
ENSG00000163681	rs6445927	3	57755619	?	White blood cell count	30595370			EFO_0004308
ENSG00000163681	rs62259026	3	57760788	?	Lung function (FEV1/FVC)	30595370			EFO_0004713
ENSG00000163681	rs6445932	3	57893884	T	Lung function (FVC)	30804560	[0.013-0.024] unit decrease	0.0184	EFO_0004312
ENSG00000163681	rs6445932	3	57893884	T	FEV1	30804560	[0.023-0.034] unit decrease	0.0287	EFO_0004314
ENSG00000163681	rs6445932	3	57893884	T	Lung function (FEV1/FVC)	30804560	[0.019-0.03] unit decrease	0.0248	EFO_0004713
ENSG00000163681	rs6445932	3	57893884	T	Peak expiratory flow	30804560	[0.013-0.024] unit decrease	0.0184
ENSG00000163681	rs1053711	3	57757519	G	Diastolic blood pressure	27841878	unit increase	0.153	EFO_0006336

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000163681's network

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

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0005515	protein binding	23386615.23414517.24255178.24366813.25416956.	IPI	Function
GO:0005790	smooth endoplasmic reticulum	9405447.	TAS	Component
GO:0005815	microtubule organizing center	-	IEA	Component
GO:0005887	integral component of plasma membrane	9405447.	TAS	Component
GO:0006936	muscle contraction	-	IEA	Process
GO:0042383	sarcolemma	-	IEA	Component
GO:0072659	protein localization to plasma membrane	23064965.	IMP	Process
GO:1900825	regulation of membrane depolarization during cardiac muscle cell action potential	23064965.	IMP	Process
GO:1902305	regulation of sodium ion transmembrane transport	23064965.	IMP	Process
GO:1905150	regulation of voltage-gated sodium channel activity	23064965.	IMP	Process

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
BLCA	chr3	57917048	Missense_Mutation	novel	E744K	0.33
BLCA	chr3	57841368	Nonsense_Mutation	NA	S139*	0.17
BLCA	chr3	57757604	5'UTR	novel		0.33
BLCA	chr3	57864623	Nonsense_Mutation	NA	E348*	0.46
BLCA	chr3	57864620	Missense_Mutation	novel	D347N	0.17
BLCA	chr3	57907951	Missense_Mutation	novel	L506F	0.11
BLCA	chr3	57916942	Silent	novel	L708L	0.15
BLCA	chr3	57757763	Nonsense_Mutation	novel	R38*	0.19
BLCA	chr3	57912631	Silent	novel	L633L	0.39
BRCA	chr3	57849784	Missense_Mutation	NA	Q163E	0.23
BRCA	chr3	57857773	Missense_Mutation	novel	A187V	0.1
BRCA	chr3	57913184	Missense_Mutation	NA	W666R	0.39
BRCA	chr3	57923017	In_Frame_Ins	NA	N798dup	0.12
BRCA	chr3	57909106	Missense_Mutation	rs372758327	R535Q	0.66
BRCA	chr3	57922916	Missense_Mutation	novel	E763Q	0.07
BRCA	chr3	57912680	Missense_Mutation	NA	E650Q	0.14
BRCA	chr3	57927859	3'UTR	novel		0.14
BRCA	chr3	57896370	Intron	novel		0.4
BRCA	chr3	57927509	3'UTR	novel		0.17
BRCA	chr3	57927511	3'UTR	novel		0.07
BRCA	chr3	57831476	Missense_Mutation	NA	L98V	0.16
BRCA	chr3	57860837	Missense_Mutation	rs146606397	E276K	0.19
CESC	chr3	57907941	Missense_Mutation	rs765688735	R503Q	0.35
CESC	chr3	57912507	Missense_Mutation	NA	A592G	0.2
CESC	chr3	57862057	Missense_Mutation	novel	E313Q	0.39
CHOL	chr3	57897014	Intron	novel		0.07
COAD	chr3	57831435	Missense_Mutation	NA	R84I	0.33
COAD	chr3	57757758	Missense_Mutation	NA	R36H	0.16
COAD	chr3	57917225	Intron	novel		0.31
COAD	chr3	57897037	Intron	novel		0.28
COAD	chr3	57909105	Nonsense_Mutation	NA	R535*	0.06
COAD	chr3	57831439	Silent	novel	L85L	0.22
COAD	chr3	57858118	Missense_Mutation	rs367733735	R216W	0.25
COAD	chr3	57858118	Missense_Mutation	rs367733735	R216W	0.42
COAD	chr3	57917137	Intron	rs565786743		0.34
COAD	chr3	57896590	Splice_Region	novel	T463T	0.32
COAD	chr3	57917062	Missense_Mutation	NA	K748N	0.12
COAD	chr3	57912599	Missense_Mutation	novel	A623T	0.32
COAD	chr3	57757819	Silent	novel	A56A	0.06
COAD	chr3	57912454	Missense_Mutation	novel	R574S	0.18
COAD	chr3	57831476	Missense_Mutation	novel	L98I	0.19
GBM	chr3	57912506	Missense_Mutation	NA	A592S	0.57
GBM	chr3	57831430	Silent	rs757038860	S82S	0.28
GBM	chr3	57912543	Missense_Mutation	novel	S604Y	0.23
HNSC	chr3	57757717	Silent	novel	V22V	0.76
HNSC	chr3	57912418	Silent	novel	L562L	0.15
HNSC	chr3	57757584	5'UTR	novel		0.8
HNSC	chr3	57757584	5'UTR	novel		0.3
KIRC	chr3	57927306	Missense_Mutation	NA	P802R	0.51
KIRC	chr3	57864653	In_Frame_Ins	novel	A358delinsECLYS	0.05
KIRC	chr3	57927397	3'UTR	novel		0.1
KIRP	chr3	57909087	Missense_Mutation	novel	E529K	0.55
KIRP	chr3	57913190	Missense_Mutation	NA	A668S	0.18
LAML	chr3	57913234	Silent	novel	L682L	0.1
LAML	chr3	57922944	Missense_Mutation	novel	E772V	0.05
LAML	chr3	57907981	Missense_Mutation	novel	S516R	0.07
LIHC	chr3	57896574	Missense_Mutation	novel	S458T	0.31
LIHC	chr3	57897142	Intron	novel		0.16
LIHC	chr3	57917122	Intron	novel		0.45
LIHC	chr3	57897164	Intron	novel		0.14
LIHC	chr3	57927413	3'UTR	rs371666554		0.35
LIHC	chr3	57916931	Missense_Mutation	novel	T705A	0.28
LIHC	chr3	57912580	Silent	NA	L616L	0.42
LUAD	chr3	57922984	Nonsense_Mutation	novel	C785*	0.15
LUAD	chr3	57922898	Missense_Mutation	novel	T757A	0.1
LUAD	chr3	57912623	Missense_Mutation	novel	T631S	0.3
LUAD	chr3	57757712	Missense_Mutation	novel	H21N	0.5
LUSC	chr3	57849809	Missense_Mutation	NA	Y171C	0.51
LUSC	chr3	57922989	Missense_Mutation	NA	N787S	0.81
LUSC	chr3	57896959	Intron	novel		0.32
LUSC	chr3	57917136	Intron	NA		0.67
LUSC	chr3	57889999	Intron	novel		0.17
LUSC	chr3	57890001	Intron	novel		0.2
LUSC	chr3	57912494	Missense_Mutation	novel	H588Y	0.35
OV	chr3	57862059	Missense_Mutation	novel	E313D	0.05
OV	chr3	57861963	Missense_Mutation	NA	N281K	0.15
OV	chr3	57757740	Missense_Mutation	novel	I30S	0.2
OV	chr3	57909100	Missense_Mutation	novel	A533V	0.04
PAAD	chr3	57912385	Silent	rs771986392	Q551Q	0.06
READ	chr3	57864551	Missense_Mutation	NA	A324T	0.23
READ	chr3	57912403	Silent	rs79652350	I557I	0.41
READ	chr3	57917137	Intron	rs565786743		0.37
SARC	chr3	57909139	Missense_Mutation	novel	Q546R	0.09
SKCM	chr3	57917120	Intron	novel		0.46
SKCM	chr3	57861960	Missense_Mutation	NA	S280R	0.19
SKCM	chr3	57927418	3'UTR	novel		0.39
SKCM	chr3	57917143	Intron	novel		0.5
SKCM	chr3	57912591	Missense_Mutation	NA	R620Q	0.42
SKCM	chr3	57927480	3'UTR	novel		0.6
SKCM	chr3	57896921	Missense_Mutation	NA	S480F	0.28
SKCM	chr3	57907946	Missense_Mutation	NA	E505K	0.44
SKCM	chr3	57861996	Missense_Mutation	novel	M292I	0.39
SKCM	chr3	57909084	Missense_Mutation	NA	E528K	0.29
SKCM	chr3	57927405	3'UTR	rs747118194		0.46
SKCM	chr3	57858111	Silent	NA	L213L	0.6
STAD	chr3	57757817	Missense_Mutation	novel	A56T	0.26
STAD	chr3	57757829	Missense_Mutation	NA	F60V	0.1
STAD	chr3	57862086	Missense_Mutation	NA	K322N	0.21
STAD	chr3	57890054	Silent	rs139832644	V421V	0.43
STAD	chr3	57831448	Silent	novel	G88G	0.13
STAD	chr3	57861949	Nonsense_Mutation	rs746429794	R277*	0.38
STAD	chr3	57757744	Silent	rs144914455	G31G	0.25
STAD	chr3	57927358	Silent	rs768374166	Y819Y	0.22
STAD	chr3	57912591	Missense_Mutation	NA	R620Q	0.07
STAD	chr3	57912685	Missense_Mutation	NA	E651D	0.42
STAD	chr3	57927385	Silent	rs753818586	P828P	0.21
THCA	chr3	57913267	Missense_Mutation	novel	E693D	0.08
THCA	chr3	57913269	Frame_Shift_Ins	novel	*L694Ffs16**	0.08
THYM	chr3	57858115	Missense_Mutation	novel	S215P	0.44
THYM	chr3	57927547	3'UTR	novel		0.11
UCEC	chr3	57909106	Missense_Mutation	rs372758327	R535Q	0.33
UCEC	chr3	57861954	Silent	novel	S278S	0.43
UCEC	chr3	57912473	Nonsense_Mutation	NA	R581*	0.31
UCEC	chr3	57917136	Intron	NA		0.25
UCEC	chr3	57896525	Missense_Mutation	novel	A442S	0.34
UCEC	chr3	57927791	3'UTR	rs767501469		0.26
UCEC	chr3	57917036	Missense_Mutation	novel	L740F	0.33
UCEC	chr3	57896908	Missense_Mutation	novel	L476I	0.39
UCEC	chr3	57907954	Silent	rs775234969	I507I	0.25
UCEC	chr3	57871643	Silent	NA	L398L	0.33
UCEC	chr3	57896552	Missense_Mutation	NA	L451M	0.11
UCEC	chr3	57912403	Silent	rs79652350	I557I	0.22
UCEC	chr3	57896558	Missense_Mutation	NA	P453S	0.39
UCEC	chr3	57831524	Missense_Mutation	novel	R114W	0.44
UCEC	chr3	57860807	In_Frame_Ins	novel	I266delinsKKV	0.12
UCEC	chr3	57864640	Silent	NA	E353E	0.19
UCEC	chr3	57927392	3'UTR	rs145017264		0.7
UCEC	chr3	57913231	Silent	novel	V681V	0.41
UCEC	chr3	57927509	3'UTR	novel		0.16
UCEC	chr3	57831482	Missense_Mutation	novel	G100S	0.39
UCEC	chr3	57907941	Missense_Mutation	rs765688735	R503Q	0.23
UCEC	chr3	57925896	Intron	novel		0.06
UCEC	chr3	57757711	Silent	novel	R20R	0.17
UCEC	chr3	57890022	Intron	rs777178496		0.44
UCEC	chr3	57928833	3'UTR	novel		0.3
UCEC	chr3	57864598	Missense_Mutation	novel	K339N	0.5
UCEC	chr3	57928219	3'UTR	novel		0.34
UCEC	chr3	57912565	Silent	novel	K611K	0.37
UCEC	chr3	57896582	Missense_Mutation	novel	D461N	0.61
UCEC	chr3	57907936	Silent	novel	H501H	0.39
UCEC	chr3	57927350	Missense_Mutation	novel	V817M	0.52
UCEC	chr3	57831476	Missense_Mutation	novel	L98I	0.43
UCEC	chr3	57927509	3'UTR	novel		0.19
UCEC	chr3	57890074	Missense_Mutation	rs757740736	A428V	0.37
UCEC	chr3	57927509	3'UTR	novel		0.14
UCEC	chr3	57927511	3'UTR	novel		0.1
UCEC	chr3	57929060	3'Flank	novel		0.47
UCEC	chr3	57912488	Missense_Mutation	novel	L586F	0.61
UCEC	chr3	57927509	3'UTR	novel		0.18
UCEC	chr3	57860698	Splice_Site	novel	X230_splice	0.33
UCEC	chr3	57849807	Missense_Mutation	novel	Q170H	0.31
UCEC	chr3	57896943	Intron	novel		0.41
UCEC	chr3	57928968	3'Flank	novel		0.43
UCEC	chr3	57896923	Missense_Mutation	NA	L481F	0.15
UCEC	chr3	57928906	3'UTR	novel		0.63
UCEC	chr3	57841329	Missense_Mutation	novel	K126T	0.35
UCEC	chr3	57913180	Missense_Mutation	novel	K664N	0.32
UCEC	chr3	57871648	Nonsense_Mutation	NA	S400*	0.38
UCEC	chr3	57928985	3'Flank	novel		0.34
UCEC	chr3	57913216	Frame_Shift_Del	novel	*R678Gfs25**	0.24
UCEC	chr3	57922967	Missense_Mutation	novel	D780N	0.49
UCEC	chr3	57858119	Missense_Mutation	novel	R216P	0.58
UCEC	chr3	57862057	Nonsense_Mutation	NA	E313*	0.26
UCEC	chr3	57907955	Missense_Mutation	rs528459774	E508K	0.38
UCEC	chr3	57757797	Missense_Mutation	novel	K49R	0.39
UCEC	chr3	57927509	3'UTR	novel		0.15
UCEC	chr3	57912420	Missense_Mutation	rs138744399	R563Q	0.33
UCEC	chr3	57907966	Silent	NA	E511E	0.43
UCEC	chr3	57927509	3'UTR	novel		0.17
UCEC	chr3	57909105	Nonsense_Mutation	NA	R535*	0.07
UCEC	chr3	57927509	3'UTR	novel		0.17
UCEC	chr3	57928905	3'UTR	novel		0.3
UCEC	chr3	57860771	Missense_Mutation	novel	A254S	0.44
UCEC	chr3	57912600	Missense_Mutation	rs762174645	A623V	0.39
UCEC	chr3	57928095	3'UTR	novel		0.59
UCEC	chr3	57757794	Missense_Mutation	novel	C48Y	0.36
UCEC	chr3	57917019	Missense_Mutation	rs373580044	A734V	0.45
UCEC	chr3	57925904	Intron	novel		0.3
UVM	chr3	57889995	Intron	novel		0.09

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
CHOL	DEL	0.75	0.016387
LUAD	DEL	0.3295	0.0021265
PAAD	DEL	0.1848	0.030662
SARC	DEL	0.2218	0.0034746
SKCM	DEL	0.1444	0.13887
TGCT	AMP	0.16	0.23596
THYM	DEL	0.0813	0.037527
UCS	DEL	0.5357	4.5515e-05

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.0001	Kaplan-Meier Survival Analysis
MESO	0.047	Kaplan-Meier Survival Analysis
ACC	0.041	Kaplan-Meier Survival Analysis
SKCM	0.0051	Kaplan-Meier Survival Analysis
COAD	0.01	Kaplan-Meier Survival Analysis
PAAD	0.002	Kaplan-Meier Survival Analysis
READ	0.021	Kaplan-Meier Survival Analysis
LIHC	0.0099	Kaplan-Meier Survival Analysis
LGG	0.027	Kaplan-Meier Survival Analysis
LUAD	0.0025	Kaplan-Meier Survival Analysis
UVM	0.05	Kaplan-Meier Survival Analysis