EuRBPDB

Note: to get the extension of tumor abbreviations.

Cancer Related Information
Basic Information

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
18353764	Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis.	Mol Cell Proteomics	2008 Jul	Thorsen K	doi: 10.1074/mcp.M700590-MCP200
21408150	HAMLET binding to α-actinin facilitates tumor cell detachment.	PLoS One	2011 Mar 8	Trulsson M	doi: 10.1371/journal.pone.0017179.
18978946	ICAM-2 expression mediates a membrane-actin link, confers a nonmetastatic phenotype and reflects favorable tumor stage or histology in neuroblastoma.	PLoS One	2008	Yoon KJ	doi: 10.1371/journal.pone.0003629
29742177	Increased α-actinin-1 destabilizes E-cadherin-based adhesions and associates with poor prognosis in basal-like breast cancer.	PLoS One	2018 May 9	Kovac B	doi: 10.1371/journal.pone.0196986

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
ACC	chr14	68882887	Missense_Mutation	novel	G602S	0.29
ACC	chr14	68904700	Missense_Mutation	rs770793826	V211M	0.1
BLCA	chr14	68904658	Missense_Mutation	rs387907350	E225K	0.06
BLCA	chr14	68884215	Nonsense_Mutation	novel	E530*	0.35
BLCA	chr14	68892238	Missense_Mutation	novel	V301L	0.1
BLCA	chr14	68979081	5'UTR	novel		0.21
BLCA	chr14	68925609	Missense_Mutation	novel	E57K	0.15
BLCA	chr14	68874852	3'UTR	novel		0.06
BLCA	chr14	68921009	Missense_Mutation	rs752533755	E113K	0.22
BLCA	chr14	68877216	Missense_Mutation	novel	M796L	0.24
BLCA	chr14	68902490	Missense_Mutation	novel	S250C	0.23
BLCA	chr14	68879963	Missense_Mutation	rs757704267	R760Q	0.27
BRCA	chr14	68875004	Missense_Mutation	NA	M845T	0.31
BRCA	chr14	68882911	Missense_Mutation	NA	T594A	0.23
BRCA	chr14	68877148	Silent	NA	R818R	0.37
BRCA	chr14	68879040	Silent	rs1054225	E770E	0.13
BRCA	chr14	68921070	Silent	rs780296951	N92N	0.47
CESC	chr14	68884266	Missense_Mutation	novel	E513Q	0.37
CESC	chr14	68874988	Silent	novel	R850R	0.11
CESC	chr14	68882526	Nonsense_Mutation	NA	E629*	0.42
CESC	chr14	68887820	Intron	novel		0.28
CESC	chr14	68877199	Silent	novel	P801P	0.32
COAD	chr14	68880071	Missense_Mutation	NA	I724S	0.3
COAD	chr14	68878500	Intron	novel		0.44
COAD	chr14	68884308	Missense_Mutation	rs372651589	R499W	0.38
COAD	chr14	68979102	5'UTR	novel		0.13
COAD	chr14	68878528	Intron	novel		0.1
COAD	chr14	68892149	In_Frame_Del	novel	E330del	0.05
COAD	chr14	68880102	Missense_Mutation	NA	R714C	0.34
COAD	chr14	68921016	Silent	rs144795702	I110I	0.19
COAD	chr14	68912228	Frame_Shift_Ins	novel	*N119Efs3**	0.38
COAD	chr14	68878553	Intron	novel		0.58
COAD	chr14	68887938	Intron	novel		0.47
COAD	chr14	68874952	Silent	NA	A862A	0.38
COAD	chr14	68874990	Missense_Mutation	rs148344567	R850C	0.49
COAD	chr14	68879964	Missense_Mutation	rs781540049	R760W	0.33
COAD	chr14	68878490	Intron	rs377766289		0.1
COAD	chr14	68874992	Missense_Mutation	rs371440985	R849H	0.2
COAD	chr14	68879008	Missense_Mutation	NA	D781G	0.27
COAD	chr14	68874991	Silent	rs768105419	R849R	0.14
COAD	chr14	68902474	Splice_Region	novel		0.15
COAD	chr14	68887614	Intron	novel		0.57
COAD	chr14	68887987	Intron	novel		0.2
COAD	chr14	68880069	Missense_Mutation	rs201419872	A725T	0.26
COAD	chr14	68925599	Missense_Mutation	rs750397684	R60Q	0.23
GBM	chr14	68890174	Missense_Mutation	rs575011573	R400Q	0.48
GBM	chr14	68882508	Missense_Mutation	novel	F635L	0.06
GBM	chr14	68925574	Silent	novel	L68L	0.58
GBM	chr14	68880822	Missense_Mutation	novel	N707K	0.05
GBM	chr14	68874904	Silent	rs141668847	D878D	0.25
GBM	chr14	68882906	Silent	NA	I595I	0.14
HNSC	chr14	68879046	Silent	rs768216429	P768P	0.38
HNSC	chr14	68878487	Intron	rs371536376		0.4
HNSC	chr14	68874851	3'UTR	rs774807508		0.15
HNSC	chr14	68877195	Missense_Mutation	novel	R803S	0.31
HNSC	chr14	68885487	Missense_Mutation	novel	E441D	0.61
HNSC	chr14	68878521	Intron	novel		0.59
KIRC	chr14	68887873	Intron	novel		0.25
KIRC	chr14	68890249	Missense_Mutation	NA	E375A	0.28
KIRC	chr14	68882554	Silent	NA	T619T	0.27
KIRC	chr14	68979158	5'UTR	novel		0.45
KIRC	chr14	68887970	Intron	novel		0.3
KIRP	chr14	68885422	Splice_Region	novel		0.4
LGG	chr14	68887782	Intron	novel		0.49
LGG	chr14	68902497	Missense_Mutation	rs761658735	A248T	0.27
LIHC	chr14	68884255	Missense_Mutation	NA	K516N	0.9
LIHC	chr14	68884257	Missense_Mutation	NA	K516E	0.9
LIHC	chr14	68892120	Missense_Mutation	NA	T340M	0.12
LUAD	chr14	68882554	Silent	NA	T619T	0.24
LUAD	chr14	68878470	Intron	novel		0.3
LUAD	chr14	68882921	Missense_Mutation	novel	N590K	0.17
LUAD	chr14	68912185	Missense_Mutation	NA	R133L	0.26
LUAD	chr14	68890244	Missense_Mutation	novel	G377C	0.3
LUAD	chr14	68879998	Missense_Mutation	novel	M748I	0.24
LUAD	chr14	68910041	Missense_Mutation	NA	E143D	0.49
LUAD	chr14	68887929	Intron	novel		0.22
LUAD	chr14	68880849	Silent	NA	A698A	0.37
LUAD	chr14	68875005	Missense_Mutation	rs766310248	M845V	0.3
LUAD	chr14	68979020	Missense_Mutation	rs774738700	M13V	0.4
LUAD	chr14	68874797	3'UTR	novel		0.44
LUAD	chr14	68880924	Silent	rs139138798	Q673Q	0.11
LUSC	chr14	68874804	3'UTR	novel		0.4
LUSC	chr14	68904736	Missense_Mutation	novel	D199H	0.21
LUSC	chr14	68878889	Intron	novel		0.24
LUSC	chr14	68921119	Missense_Mutation	rs770910449	R76H	0.3
LUSC	chr14	68880041	Missense_Mutation	NA	Q734R	0.16
LUSC	chr14	68880988	Missense_Mutation	novel	E652V	0.25
OV	chr14	68890284	Frame_Shift_Ins	novel	*I364Pfs21**	0.04
OV	chr14	68890285	Nonsense_Mutation	novel	*D363Afs5**	0.04
OV	chr14	68902546	Silent	novel	A231A	0.48
OV	chr14	68885805	Intron	novel		0.67
OV	chr14	68912240	Frame_Shift_Ins	novel	*I115Afs7**	0.1
OV	chr14	68925641	Missense_Mutation	rs387907348	R46Q	0.29
OV	chr14	68921107	Missense_Mutation	novel	P80L	0.89
OV	chr14	68921108	Nonsense_Mutation	novel	*P80Kfs4**	0.89
OV	chr14	68885575	Missense_Mutation	novel	G412V	0.13
PAAD	chr14	68878792	Intron	novel		0.13
PAAD	chr14	68892255	Missense_Mutation	rs747970717	P295L	0.17
PRAD	chr14	68874883	Silent	novel	A885A	0.35
PRAD	chr14	68878488	Intron	rs374748072		0.21
PRAD	chr14	68878931	Intron	novel		0.07
READ	chr14	68921051	Missense_Mutation	novel	F99V	0.26
READ	chr14	68879045	Missense_Mutation	novel	E769K	0.38
READ	chr14	68883024	Missense_Mutation	NA	A556V	0.28
READ	chr14	68887684	Intron	novel		0.19
READ	chr14	68878917	Intron	novel		0.42
READ	chr14	68884302	Missense_Mutation	rs368356125	E501K	0.27
READ	chr14	68884300	Silent	NA	E501E	0.37
READ	chr14	68912185	Missense_Mutation	NA	R133H	0.32
READ	chr14	68887747	Intron	novel		0.23
SARC	chr14	68887761	Intron	novel		0.45
SKCM	chr14	68878924	Intron	novel		0.06
SKCM	chr14	68874720	3'UTR	novel		0.57
SKCM	chr14	68888099	Intron	novel		0.29
SKCM	chr14	68880984	Silent	rs372031019	I653I	0.18
SKCM	chr14	68904677	Silent	NA	I218I	0.2
SKCM	chr14	68880103	Silent	NA	I713I	0.36
SKCM	chr14	68874922	Silent	NA	S872S	0.35
SKCM	chr14	68885493	Silent	NA	A439A	0.2
SKCM	chr14	68909978	Silent	NA	V164V	0.29
SKCM	chr14	68921058	Silent	NA	A96A	0.24
SKCM	chr14	68904655	Missense_Mutation	NA	D226N	0.27
SKCM	chr14	68902495	Silent	rs774184505	A248A	0.29
SKCM	chr14	68874923	Missense_Mutation	rs745859336	S872F	0.42
SKCM	chr14	68892076	Missense_Mutation	NA	P355S	0.36
SKCM	chr14	68878391	Intron	novel		0.45
SKCM	chr14	68904674	Silent	NA	P219P	0.38
SKCM	chr14	68885424	Splice_Site	NA	X462_splice	0.27
SKCM	chr14	68878589	Intron	novel		0.24
SKCM	chr14	68880826	Missense_Mutation	rs373795472	T706I	0.81
SKCM	chr14	68878924	Intron	novel		0.74
SKCM	chr14	68885616	Intron	novel		0.39
SKCM	chr14	68902490	Missense_Mutation	NA	S250F	0.34
SKCM	chr14	68912212	Missense_Mutation	NA	L124Q	0.22
SKCM	chr14	68874923	Missense_Mutation	rs745859336	S872F	0.48
SKCM	chr14	68874777	3'UTR	novel		0.7
SKCM	chr14	68874759	3'UTR	novel		0.65
SKCM	chr14	68882522	Missense_Mutation	novel	R630K	0.65
SKCM	chr14	68892188	Silent	NA	R317R	0.18
SKCM	chr14	68879039	Missense_Mutation	novel	F771L	0.06
STAD	chr14	68874805	3'UTR	novel		0.25
STAD	chr14	68978961	Silent	novel	Q32Q	0.28
STAD	chr14	68925592	Silent	NA	G62G	0.19
STAD	chr14	68887937	Intron	novel		0.26
STAD	chr14	68925641	Missense_Mutation	rs387907348	R46Q	0.26
STAD	chr14	68921064	Silent	rs137965016	N94N	0.42
STAD	chr14	68874714	3'UTR	novel		0.38
STAD	chr14	68887918	Intron	novel		0.44
STAD	chr14	68874953	Missense_Mutation	rs199901015	A862V	0.1
STAD	chr14	68892254	Silent	rs139710798	P295P	0.15
STAD	chr14	68878931	Intron	novel		0.23
STAD	chr14	68882574	Missense_Mutation	NA	R613W	0.11
STAD	chr14	68880843	Silent	rs577992605	I700I	0.38
STAD	chr14	68880872	Missense_Mutation	rs763573834	D691N	0.32
STAD	chr14	68892191	Silent	NA	F316F	0.24
STAD	chr14	68902516	Silent	rs149168564	Y241Y	0.14
STAD	chr14	68874703	3'UTR	novel		0.2
STAD	chr14	68892164	Silent	rs774117795	P325P	0.08
STAD	chr14	68880850	Missense_Mutation	NA	A698V	0.26
STAD	chr14	68892166	Missense_Mutation	NA	P325S	0.2
STAD	chr14	68902557	Missense_Mutation	rs151249499	V228I	0.5
UCEC	chr14	68921032	Missense_Mutation	novel	V105A	0.08
UCEC	chr14	68909323	Missense_Mutation	NA	R197W	0.32
UCEC	chr14	68887536	Intron	novel		0.15
UCEC	chr14	68921102	Nonsense_Mutation	novel	R82*	0.16
UCEC	chr14	68888027	Intron	novel		0.36
UCEC	chr14	68893673	Silent	rs751472888	Y279Y	0.33
UCEC	chr14	68880960	Silent	rs149956838	H661H	0.26
UCEC	chr14	68887613	Intron	novel		0.38
UCEC	chr14	68880091	Missense_Mutation	novel	W717C	0.33
UCEC	chr14	68979036	Silent	novel	Q7Q	0.17
UCEC	chr14	68885490	Silent	rs145749867	F440F	0.48
UCEC	chr14	68912179	Missense_Mutation	novel	A135V	0.4
UCEC	chr14	68887149	Intron	novel		0.25
UCEC	chr14	68878808	Intron	novel		0.41
UCEC	chr14	68890273	Missense_Mutation	novel	A367D	0.39
UCEC	chr14	68892178	Missense_Mutation	rs771989409	R321C	0.26
UCEC	chr14	68878687	Intron	novel		0.36
UCEC	chr14	68882942	Silent	rs760876057	H583H	0.43
UCEC	chr14	68887464	Intron	novel		0.49
UCEC	chr14	68877226	Silent	NA	F792F	0.18
UCEC	chr14	68884247	Missense_Mutation	rs150426921	A519V	0.24
UCEC	chr14	68884830	Missense_Mutation	novel	C480Y	0.39
UCEC	chr14	68887614	Intron	novel		0.41
UCEC	chr14	68882519	Missense_Mutation	NA	L631P	0.3
UCEC	chr14	68925586	Missense_Mutation	NA	K64N	0.46
UCEC	chr14	68880030	Missense_Mutation	rs387907349	R738W	0.35
UCEC	chr14	68874695	3'UTR	novel		0.48
UCEC	chr14	68904656	Missense_Mutation	novel	E225D	0.28
UCEC	chr14	68877139	Silent	rs774599678	A821A	0.28
UCEC	chr14	68880991	Splice_Site	novel	X652_splice	0.22
UCEC	chr14	68921019	Silent	novel	S109S	0.28
UCEC	chr14	68877201	Missense_Mutation	novel	P801S	0.23
UCEC	chr14	68892197	Missense_Mutation	novel	E314D	0.38
UCEC	chr14	68910044	Splice_Site	novel	X143_splice	0.48
UCEC	chr14	68979031	Missense_Mutation	novel	T9I	0.41
UCEC	chr14	68874589	3'UTR	novel		0.33
UCEC	chr14	68893746	Missense_Mutation	rs773643865	A255V	0.28
UCEC	chr14	68874533	3'UTR	novel		0.38
UCEC	chr14	68884275	Silent	novel	L510L	0.35
UCEC	chr14	68878598	Intron	novel		0.45
UCEC	chr14	68878898	Intron	novel		0.38
UCEC	chr14	68893662	Missense_Mutation	novel	A283V	0.09
UCEC	chr14	68874662	3'UTR	novel		0.32
UCEC	chr14	68874667	3'UTR	novel		0.3
UCEC	chr14	68884867	Missense_Mutation	novel	D468N	0.21
UCEC	chr14	68887614	Intron	novel		0.41
UCEC	chr14	68877088	Silent	NA	G838G	0.24
UCEC	chr14	68885461	Missense_Mutation	NA	R450H	0.21
UCEC	chr14	68887614	Intron	novel		0.21
UCEC	chr14	68887401	Intron	novel		0.64
UCEC	chr14	68874851	3'UTR	rs774807508		0.1
UCEC	chr14	68874993	Missense_Mutation	rs547204209	R849C	0.38
UCEC	chr14	68884826	Silent	novel	D481D	0.11
UCEC	chr14	68893660	Missense_Mutation	novel	S284G	0.22
UCEC	chr14	68874803	3'UTR	novel		0.2
UCEC	chr14	68874993	Missense_Mutation	rs547204209	R849C	0.51
UCEC	chr14	68878912	Intron	novel		0.18
UCEC	chr14	68882517	Missense_Mutation	rs373084944	R632C	0.32
UCEC	chr14	68887619	Intron	novel		0.48
UCEC	chr14	68909323	Missense_Mutation	NA	R197W	0.52
UCEC	chr14	68921016	Silent	rs144795702	I110I	0.45
UCEC	chr14	68874990	Missense_Mutation	rs148344567	R850C	0.13
UCEC	chr14	68892215	Silent	rs765652494	A308A	0.53
UCEC	chr14	68878514	Intron	novel		0.37
UCEC	chr14	68882955	Missense_Mutation	novel	V579D	0.29
UCEC	chr14	68912238	Silent	rs773658344	I115I	0.14
UCEC	chr14	68882873	Splice_Region	novel	H606H	0.45
UCEC	chr14	68893673	Silent	rs751472888	Y279Y	0.31
UCEC	chr14	68925664	Silent	novel	T38T	0.08
UCEC	chr14	68874880	Silent	novel	L886L	0.44
UCEC	chr14	68880015	Missense_Mutation	NA	I743V	0.32
UCEC	chr14	68885496	Missense_Mutation	novel	E438D	0.31
UCEC	chr14	68874817	3'UTR	novel		0.4
UCEC	chr14	68874836	3'UTR	rs545396188		0.14
UCEC	chr14	68885439	Silent	rs150266512	I457I	0.24
UCEC	chr14	68925612	Missense_Mutation	rs200613938	E56K	0.28
UCEC	chr14	68884245	Missense_Mutation	novel	P520S	0.24
UCEC	chr14	68921087	Missense_Mutation	novel	V87L	0.29
UCEC	chr14	68925600	Missense_Mutation	novel	R60W	0.2
UCEC	chr14	68874643	3'UTR	novel		0.31
UCEC	chr14	68887614	Intron	novel		0.56
UCEC	chr14	68877195	Missense_Mutation	novel	R803C	0.32
UCEC	chr14	68884792	Nonsense_Mutation	NA	R493*	0.27
UCEC	chr14	68887971	Intron	novel		0.31
UCEC	chr14	68925655	Silent	NA	C41C	0.35
UCEC	chr14	68877221	Missense_Mutation	novel	R794H	0.49
UCEC	chr14	68892120	Missense_Mutation	NA	T340M	0.39
UCEC	chr14	68902529	Missense_Mutation	novel	A237V	0.3

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
ACC	DEL	0.1444	0.19769
BRCA	DEL	0.2694	6.1292e-10
CHOL	DEL	0.5556	0.00040262
COAD	DEL	0.2882	0.050084
GBM	DEL	0.2738	5.7274e-07
KIRC	DEL	0.3807	0.0074281
KIRP	DEL	0.1701	0.085174
LGG	DEL	0.2047	1.1681e-13
MESO	DEL	0.4023	0.088547
OV	DEL	0.4715	6.0694e-08
PAAD	DEL	0.0652	0.11332
READ	DEL	0.3576	0.189
SARC	DEL	0.2879	0.0013077

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.045	Kaplan-Meier Survival Analysis
STAD	0.0091	Kaplan-Meier Survival Analysis
MESO	0.00017	Kaplan-Meier Survival Analysis
ACC	0.0003	Kaplan-Meier Survival Analysis
HNSC	0.00065	Kaplan-Meier Survival Analysis
SKCM	0.045	Kaplan-Meier Survival Analysis
LUSC	0.014	Kaplan-Meier Survival Analysis
ESCA	0.025	Kaplan-Meier Survival Analysis
KIRP	0.00024	Kaplan-Meier Survival Analysis
BLCA	0.0031	Kaplan-Meier Survival Analysis
CESC	0.0011	Kaplan-Meier Survival Analysis
LIHC	0.0098	Kaplan-Meier Survival Analysis
LUAD	0.0013	Kaplan-Meier Survival Analysis
UVM	0.0031	Kaplan-Meier Survival Analysis

Drugs

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Expression

Transcripts

Gene Model

Pathway

Phenotype

GWAS

PPI

Ortholog

Gene Ontology

Description

Ensembl ID: ENSG00000072110 (Gene tree)
Gene ID: 87
Gene Symbol: ACTN1
Alias: N
Full Name: actinin alpha 1
Gene Type: protein_coding
Specie: Homo_sapiens
Strand: Minus strand
Length: 105,318 bases
Position: chr14:68,874,123-68,979,440
Accession: 163
Summary: Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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
29431736	Capturing the interactome of newly transcribed RNA	NascentRICK & 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
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
ENST00000394419	ACTN1-203	3464	XM_017021720	ENSP00000377941	914 (aa)	XP_016877209	P12814
ENST00000555075	ACTN1-214	828	-	ENSP00000452254	251 (aa)	-	H0YJW3
ENST00000538545	ACTN1-205	2813	-	ENSP00000439828	930 (aa)	-	P12814
ENST00000553779	ACTN1-210	530	-	ENSP00000450618	85 (aa)	-	G3V2E8
ENST00000544964	ACTN1-206	891	-	ENSP00000444422	297 (aa)	-	H7C5W8
ENST00000555616	ACTN1-215	919	-	ENSP00000450903	238 (aa)	-	G3V2W4
ENST00000556083	ACTN1-216	4674	-	-	- (aa)	-	-
ENST00000556343	ACTN1-218	274	-	-	- (aa)	-	-
ENST00000556203	ACTN1-217	564	-	-	- (aa)	-	-
ENST00000193403	ACTN1-201	3779	XM_011537265	ENSP00000193403	892 (aa)	XP_011535567	P12814
ENST00000554508	ACTN1-213	585	-	-	- (aa)	-	-
ENST00000553290	ACTN1-207	619	-	ENSP00000450625	207 (aa)	-	H0YJ11
ENST00000556571	ACTN1-221	568	-	ENSP00000452423	126 (aa)	-	G3V5M4
ENST00000438964	ACTN1-204	3043	XM_017021727	ENSP00000414272	887 (aa)	XP_016877216	P12814
ENST00000553882	ACTN1-211	2636	-	-	- (aa)	-	-
ENST00000376839	ACTN1-202	2824	XM_011537266	ENSP00000366035	822 (aa)	XP_011535568	H9KV75
ENST00000553659	ACTN1-209	434	-	ENSP00000451086	72 (aa)	-	G3V380
ENST00000553370	ACTN1-208	605	-	ENSP00000450925	144 (aa)	-	G3V2X9
ENST00000556432	ACTN1-219	558	-	-	- (aa)	-	-
ENST00000556433	ACTN1-220	1259	-	ENSP00000450764	260 (aa)	-	G3V2N5
ENST00000554158	ACTN1-212	571	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000072110's gene model file

Pathway

Pathway ID	Pathway Name	Source
hsa04510	Focal adhesion	KEGG
hsa04520	Adherens junction	KEGG
hsa04530	Tight junction	KEGG
hsa04670	Leukocyte transendothelial migration	KEGG
hsa04810	Regulation of actin cytoskeleton	KEGG
hsa05146	Amoebiasis	KEGG
hsa05203	Viral carcinogenesis	KEGG
hsa05322	Systemic lupus erythematosus	KEGG

Phenotype

ensgID	Trait	pValue	Pubmed ID
ENSG00000072110	Coronary Artery Disease	8.8920000E-005	-
ENSG00000072110	Coronary Artery Disease	8.0590000E-005	-
ENSG00000072110	Coronary Artery Disease	7.9910000E-005	-
ENSG00000072110	Coronary Artery Disease	5.2020000E-005	-
ENSG00000072110	Coronary Disease	2.1020000E-005	-
ENSG00000072110	Platelet Function Tests	1.9866100E-005	-
ENSG00000072110	Platelet Function Tests	1.0886700E-005	-
ENSG00000072110	Platelet Function Tests	1.3319700E-005	-
ENSG00000072110	Platelet Count	1E-28	26805783
ENSG00000072110	Periodontitis	4E-6	24024966
ENSG00000072110	Cognition Disorders	2E-6	26252872
ENSG00000072110	Cognitive Dysfunction	2E-6	26252872
ENSG00000072110	Cognition Disorders	9E-7	26252872
ENSG00000072110	Cognitive Dysfunction	9E-7	26252872
ENSG00000072110	Smoking	7E-6	19247474

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000072110	rs2073307	14	68875533	T	Mean platelet volume	27863252	[0.033-0.047] unit decrease	0.03994193	EFO_0004584
ENSG00000072110	rs117672662	14	68958750	C	Mean platelet volume	27863252	[0.36-0.52] unit increase	0.4413049	EFO_0004584
ENSG00000072110	rs12050161	14	68893914	T	Periodontitis (Mean PAL)	24024966	[0.040-0.100] unit increase	0.07	EFO_0000649
ENSG00000072110	rs76745467	14	68959672	C	Cognitive decline rate in late mild cognitive impairment	26252872	[0.16-0.37] unit increase	0.2634	HP_0100543\|EFO_0007710
ENSG00000072110	rs76745467	14	68959672	C	Cognitive decline rate in late mild cognitive impairment	26252872	[0.16-0.38] unit increase	0.2707	HP_0100543\|EFO_0007710
ENSG00000072110	rs117672662	14	68958750	T	Platelet count	26805783	[0.50-0.71] unit increase	0.604	EFO_0004309
ENSG00000072110	rs2268983	14	68941980	?	Smoking behavior	19247474	[NR]	1.52	EFO_0004318
ENSG00000072110	rs17835769	14	68886047	T	Mosquito bite size	28199695	[0.042-0.104] unit increase	0.0727107	EFO_0008378
ENSG00000072110	rs4902681	14	68959900	T	Educational attainment (MTAG)	30038396	[0.0055-0.0113] unit decrease	0.0084	EFO_0004784
ENSG00000072110	rs3784138	14	68929672	?	Platelet count	29403010	[0.022-0.04] unit decrease novel	0.03059	EFO_0004309
ENSG00000072110	rs117672662	14	68958750	C	Platelet distribution width	27863252	[0.25-0.41] unit increase	0.3333976	EFO_0007984

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000072110's network

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Paralog	Gene Symbol	Coverage	Identiy	Species
ENSG00000072110	ACTN1	100	100.000	ENSMUSG00000015143	Actn1	100	99.215	Mus_musculus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0001725	stress fiber	11223950.	IDA	Component
GO:0001726	ruffle	11223950.	IDA	Component
GO:0002576	platelet degranulation	-	TAS	Process
GO:0003725	double-stranded RNA binding	21266579.	IDA	Function
GO:0005178	integrin binding	7983147.	IDA	Function
GO:0005178	integrin binding	11223950.	IPI	Function
GO:0005509	calcium ion binding	-	IEA	Function
GO:0005515	protein binding	10793131.11101506.12446711.14623081.16189514.16291744.16464232.20120020.25416956.25910212.26496610.26871637.30021884.	IPI	Function
GO:0005576	extracellular region	-	TAS	Component
GO:0005615	extracellular space	16502470.	HDA	Component
GO:0005737	cytoplasm	16464232.23434115.	IDA	Component
GO:0005829	cytosol	-	TAS	Component
GO:0005884	actin filament	23434115.24069336.	IDA	Component
GO:0005886	plasma membrane	-	IEA	Component
GO:0005903	brush border	-	IEA	Component
GO:0005911	cell-cell junction	11223950.	IDA	Component
GO:0005916	fascia adherens	-	IEA	Component
GO:0005925	focal adhesion	21423176.	HDA	Component
GO:0005925	focal adhesion	11223950.	IDA	Component
GO:0005925	focal adhesion	16807302.	IMP	Component
GO:0007015	actin filament organization	23434115.	IMP	Process
GO:0017166	vinculin binding	11223950.	IDA	Function
GO:0017166	vinculin binding	15988023.	IPI	Function
GO:0030018	Z disc	-	IEA	Component
GO:0030168	platelet activation	24069336.	IMP	Process
GO:0030220	platelet formation	23434115.	IMP	Process
GO:0030374	nuclear receptor transcription coactivator activity	22351778.	IDA	Function
GO:0031093	platelet alpha granule lumen	-	TAS	Component
GO:0031143	pseudopodium	1629252.	TAS	Component
GO:0036344	platelet morphogenesis	23434115.24069336.	IMP	Process
GO:0042803	protein homodimerization activity	11223950.	IDA	Function
GO:0042981	regulation of apoptotic process	16807302.	NAS	Process
GO:0042995	cell projection	16464232.	IDA	Component
GO:0044325	ion channel binding	17944866.19943616.	IPI	Function
GO:0048041	focal adhesion assembly	16807302.	IMP	Process
GO:0051015	actin filament binding	11223950.	IDA	Function
GO:0051017	actin filament bundle assembly	-	IEA	Process
GO:0051271	negative regulation of cellular component movement	7983147.	IMP	Process
GO:0051639	actin filament network formation	24069336.	IMP	Process
GO:0051764	actin crosslink formation	-	IEA	Process
GO:0070062	extracellular exosome	19056867.19199708.21362503.23533145.	HDA	Component
GO:0070527	platelet aggregation	23434115.	IMP	Process
GO:0098978	glutamatergic synapse	29429936.	EXP	Component
GO:0098978	glutamatergic synapse	29429936.	IDA	Component
GO:0098978	glutamatergic synapse	29429936.	IMP	Component
GO:0099173	postsynapse organization	-	IEA	Process
GO:0099186	structural constituent of postsynapse	29429936.	EXP	Function
GO:0099186	structural constituent of postsynapse	29429936.	IDA	Function
GO:0099186	structural constituent of postsynapse	29429936.	IMP	Function
GO:1903508	positive regulation of nucleic acid-templated transcription	-	IEA	Process

EuRBPDB

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Description

RBPome

Expression

Transcripts

Gene Model

Pathway

Phenotype

GWAS

PPI

Ortholog

Gene Ontology

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