EuRBPDB

Note: to get the extension of tumor abbreviations.

Cancer Related Information
Basic Information

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
28927426	The acid-sensing ion channel, ASIC2, promotes invasion and metastasis of colorectal cancer under acidosis by activating the calcineurin/NFAT1 axis.	J Exp Clin Cancer Res	2017 Sep 19	Zhou ZH	doi: 10.1186/s13046-017-0599-9.

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
ACC	chr17	33291434	Intron	novel		0.14
ACC	chr17	33291848	Intron	novel		0.29
BLCA	chr17	33088908	Silent	novel	G263G	0.25
BLCA	chr17	33017607	Missense_Mutation	NA	E456Q	0.37
BLCA	chr17	34156392	Silent	novel	V47V	0.17
BLCA	chr17	34156130	Missense_Mutation	NA	E135K	0.18
BLCA	chr17	34156145	Missense_Mutation	novel	D130Y	0.36
BLCA	chr17	33024007	Silent	NA	L350L	0.56
BLCA	chr17	33023868	Missense_Mutation	novel	Y397H	0.06
BLCA	chr17	33291678	Intron	novel		0.2
BLCA	chr17	33291749	Intron	novel		0.44
BLCA	chr17	33023860	Splice_Site	novel	X399_splice	0.38
BLCA	chr17	33291614	Intron	novel		0.38
BRCA	chr17	33013971	Silent	novel	A511A	0.11
BRCA	chr17	33112010	Silent	NA	L205L	0.16
BRCA	chr17	33088866	Silent	NA	Q277Q	0.31
BRCA	chr17	34156385	Missense_Mutation	rs753583147	V50M	0.44
BRCA	chr17	33014013	Silent	rs200452478	N497N	0.19
BRCA	chr17	33088897	Missense_Mutation	rs745617613	G267E	0.5
CESC	chr17	34156445	Missense_Mutation	NA	R30C	0.35
CESC	chr17	34156444	Missense_Mutation	NA	R30H	0.44
CESC	chr17	34156349	Missense_Mutation	novel	E62K	0.35
CESC	chr17	33291553	Intron	novel		0.15
CESC	chr17	33291934	Intron	novel		0.33
CESC	chr17	33023965	Nonsense_Mutation	novel	C364*	0.32
CESC	chr17	33291576	Intron	novel		0.19
CESC	chr17	33111944	Missense_Mutation	NA	E227K	0.37
CESC	chr17	33013999	Missense_Mutation	rs201100877	T502M	0.25
COAD	chr17	34156622	5'UTR	novel		0.13
COAD	chr17	33017625	Missense_Mutation	NA	L450F	0.24
COAD	chr17	34156646	5'UTR	novel		0.3
COAD	chr17	34156367	Silent	NA	L56L	0.22
COAD	chr17	33088984	Missense_Mutation	rs147403420	T238M	0.32
COAD	chr17	33017611	Missense_Mutation	novel	I454M	0.19
COAD	chr17	34156120	Missense_Mutation	rs754954730	R138Q	0.31
COAD	chr17	33028245	Missense_Mutation	novel	P328S	0.13
COAD	chr17	33021272	Missense_Mutation	novel	L412R	0.41
COAD	chr17	33028259	Missense_Mutation	NA	R323H	0.33
COAD	chr17	33111987	Frame_Shift_Del	NA	*T213Qfs32**	0.35
COAD	chr17	33111986	Frame_Shift_Ins	NA	*T213Dfs15**	0.38
COAD	chr17	33088958	In_Frame_Ins	novel	V246_Q247insG	0.06
COAD	chr17	33088960	Missense_Mutation	novel	V246D	0.06
COAD	chr17	33023999	Frame_Shift_Del	NA	*K353Rfs14**	0.38
COAD	chr17	34156403	Silent	NA	L44L	0.29
COAD	chr17	33021242	Missense_Mutation	NA	A422V	0.15
COAD	chr17	34156336	Missense_Mutation	rs201229528	Y66C	0.16
COAD	chr17	33021241	Silent	rs759168920	A422A	0.19
DLBC	chr17	33291797	Intron	novel		0.13
ESCA	chr17	33088886	Missense_Mutation	novel	F271L	0.36
ESCA	chr17	33291945	Intron	novel		0.13
ESCA	chr17	33291672	Intron	novel		0.51
ESCA	chr17	34156043	Missense_Mutation	novel	L164M	0.11
ESCA	chr17	33013803	3'UTR	novel		0.38
ESCA	chr17	33291983	Intron	novel		0.13
ESCA	chr17	33023860	Splice_Site	rs199653464	X399_splice	0.3
ESCA	chr17	34156654	5'UTR	novel		0.44
ESCA	chr17	33291609	Intron	novel		0.21
ESCA	chr17	33291995	Intron	novel		0.25
GBM	chr17	33014006	Missense_Mutation	NA	L500M	0.75
GBM	chr17	33024004	Silent	rs544368158	A351A	0.41
GBM	chr17	33023907	Missense_Mutation	novel	A384T	0.22
GBM	chr17	33291547	Intron	novel		0.35
GBM	chr17	34156386	Silent	rs778759008	F49F	0.3
GBM	chr17	34156412	Missense_Mutation	NA	R41W	0.3
HNSC	chr17	33291618	Intron	rs751416838		0.3
HNSC	chr17	33291616	Intron	novel		0.19
HNSC	chr17	34156043	Missense_Mutation	novel	L164M	0.24
HNSC	chr17	34156485	Silent	novel	S16S	0.34
HNSC	chr17	34156136	Missense_Mutation	rs779793341	V133M	0.11
HNSC	chr17	33013972	Missense_Mutation	novel	A511D	0.42
HNSC	chr17	34156057	Missense_Mutation	novel	R159H	0.33
HNSC	chr17	34156241	Missense_Mutation	rs758581731	R98W	0.27
KIRC	chr17	33291444	Intron	novel		0.49
KIRC	chr17	33111936	Frame_Shift_Del	novel	*E227Afs12**	0.26
KIRC	chr17	34155998	Missense_Mutation	novel	G179S	0.07
LGG	chr17	34156052	Missense_Mutation	novel	G161S	0.07
LGG	chr17	34156403	Silent	NA	L44L	0.33
LIHC	chr17	34156557	5'UTR	novel		0.11
LIHC	chr17	33291799	Intron	novel		0.31
LIHC	chr17	34156572	5'UTR	novel		0.18
LIHC	chr17	34156101	Silent	NA	K144K	0.08
LIHC	chr17	33013823	3'UTR	novel		0.33
LUAD	chr17	33088944	Missense_Mutation	novel	Q251H	0.05
LUAD	chr17	34156136	Missense_Mutation	rs779793341	V133M	0.36
LUAD	chr17	33028383	Missense_Mutation	novel	L282M	0.14
LUAD	chr17	33088934	Missense_Mutation	novel	P255T	0.33
LUAD	chr17	34156192	Missense_Mutation	novel	L114Q	0.12
LUAD	chr17	33291758	Intron	novel		0.2
LUAD	chr17	33291448	Intron	novel		0.18
LUAD	chr17	33291886	Intron	novel		0.39
LUAD	chr17	33291799	Intron	novel		0.31
LUAD	chr17	33016024	Missense_Mutation	NA	L462I	0.23
LUAD	chr17	33023933	Missense_Mutation	novel	M375K	0.4
LUAD	chr17	34156233	Silent	novel	S100S	0.16
LUAD	chr17	33291801	Intron	novel		0.34
LUAD	chr17	33291828	Intron	novel		0.13
LUAD	chr17	34156187	Missense_Mutation	NA	L116V	0.1
LUAD	chr17	33025929	Silent	NA	L347L	0.28
LUAD	chr17	33021245	Missense_Mutation	novel	K421M	0.13
LUAD	chr17	33111975	Silent	novel	G216G	0.23
LUAD	chr17	33017607	Nonsense_Mutation	novel	E456*	0.14
LUAD	chr17	33028304	Missense_Mutation	novel	R308K	0.22
LUAD	chr17	34156337	Missense_Mutation	NA	Y66H	0.23
LUAD	chr17	34156123	Missense_Mutation	novel	L137P	0.28
LUAD	chr17	33291849	Intron	novel		0.21
LUAD	chr17	33021300	Missense_Mutation	novel	L403I	0.31
LUSC	chr17	34156236	Missense_Mutation	novel	F99L	0.26
LUSC	chr17	34156476	Missense_Mutation	novel	I19M	0.19
LUSC	chr17	33023860	Splice_Site	novel	X399_splice	0.21
LUSC	chr17	33028338	Missense_Mutation	novel	D297Y	0.3
LUSC	chr17	34156153	Missense_Mutation	novel	H127P	0.42
LUSC	chr17	34156280	Missense_Mutation	NA	V85L	0.35
LUSC	chr17	33111944	Nonsense_Mutation	NA	E227*	0.04
LUSC	chr17	34156464	Silent	NA	T23T	0.25
LUSC	chr17	33021241	Silent	rs759168920	A422A	0.19
LUSC	chr17	33028355	Missense_Mutation	NA	S291F	0.43
LUSC	chr17	34156138	Missense_Mutation	NA	S132F	0.22
LUSC	chr17	34156272	Silent	novel	P87P	0.39
LUSC	chr17	34156347	Missense_Mutation	novel	E62D	0.27
LUSC	chr17	33028338	Missense_Mutation	rs757867324	D297H	0.1
LUSC	chr17	33112060	Missense_Mutation	NA	T188K	0.19
LUSC	chr17	33291909	Intron	rs750939331		0.57
LUSC	chr17	33111986	Frame_Shift_Ins	NA	*T213Dfs15**	0.51
LUSC	chr17	34156065	Silent	NA	F156F	0.62
OV	chr17	33021284	Frame_Shift_Del	NA	*L405Ffs2**	0.69
OV	chr17	34156385	Missense_Mutation	rs753583147	V50M	0.28
PAAD	chr17	34156305	Silent	novel	V76V	0.08
PAAD	chr17	34156161	Silent	rs770764384	P124P	0.11
PRAD	chr17	33291438	Intron	novel		0.15
PRAD	chr17	33028260	Missense_Mutation	novel	R323C	0.22
PRAD	chr17	33291652	Intron	novel		0.15
PRAD	chr17	33028313	Missense_Mutation	NA	T305I	0.06
PRAD	chr17	33291574	Intron	novel		0.19
PRAD	chr17	34156099	Missense_Mutation	NA	H145P	0.11
READ	chr17	33111986	Frame_Shift_Ins	NA	*T213Dfs15**	0.08
READ	chr17	34156046	Missense_Mutation	NA	D163Y	0.16
READ	chr17	33291762	Intron	NA		0.19
READ	chr17	33017603	Splice_Site	NA	X456_splice	0.11
READ	chr17	34156534	5'UTR	novel		0.19
SARC	chr17	34156143	Silent	novel	D130D	0.33
SARC	chr17	34156137	Silent	rs374323534	S132S	0.25
SARC	chr17	33025973	Frame_Shift_Del	novel	*P332Lfs16**	0.23
SARC	chr17	33021265	In_Frame_Del	novel	Y414del	0.23
SKCM	chr17	34156592	5'UTR	novel		0.55
SKCM	chr17	33111966	Silent	NA	I219I	0.29
SKCM	chr17	34156246	Missense_Mutation	NA	G96D	0.58
SKCM	chr17	34156546	5'UTR	novel		0.54
SKCM	chr17	33111927	Nonsense_Mutation	NA	W232*	0.26
SKCM	chr17	33088893	Silent	NA	F268F	0.53
SKCM	chr17	33025981	Splice_Region	novel	G329G	0.22
SKCM	chr17	34156160	Missense_Mutation	NA	D125N	0.4
SKCM	chr17	34156434	Silent	NA	F33F	0.45
SKCM	chr17	33291491	Intron	NA		0.43
SKCM	chr17	33016019	Silent	NA	L463L	0.25
SKCM	chr17	33028354	Silent	NA	S291S	0.37
SKCM	chr17	34156301	Missense_Mutation	rs749146881	E78K	0.34
SKCM	chr17	33111992	Missense_Mutation	novel	G211R	0.38
SKCM	chr17	33088929	Silent	rs138635070	F256F	0.11
SKCM	chr17	33028329	Missense_Mutation	NA	P300S	0.14
SKCM	chr17	34156351	Missense_Mutation	novel	S61F	0.28
SKCM	chr17	33023982	Missense_Mutation	NA	L359F	0.43
SKCM	chr17	33023998	Silent	NA	K353K	0.07
SKCM	chr17	34156071	Silent	NA	L154L	0.18
SKCM	chr17	33023929	Silent	NA	V376V	0.63
SKCM	chr17	34156573	5'UTR	rs756724305		0.39
SKCM	chr17	34156141	Missense_Mutation	NA	P131L	0.45
SKCM	chr17	34156481	Missense_Mutation	novel	Q18K	0.15
SKCM	chr17	33015997	Missense_Mutation	rs780407455	D471N	0.14
SKCM	chr17	33023929	Silent	NA	V376V	0.51
SKCM	chr17	33023941	Silent	NA	E372E	0.44
SKCM	chr17	33025975	Silent	NA	A331A	0.28
SKCM	chr17	33112067	Missense_Mutation	NA	V186L	0.17
SKCM	chr17	34156058	Missense_Mutation	NA	R159C	0.07
SKCM	chr17	34156137	Silent	rs374323534	S132S	0.41
SKCM	chr17	34156234	Missense_Mutation	NA	S100F	0.67
SKCM	chr17	34155984	Silent	novel	F183F	0.55
SKCM	chr17	33111947	Missense_Mutation	NA	D226N	0.15
SKCM	chr17	33088863	Splice_Region	novel	R278R	0.29
SKCM	chr17	34156043	Silent	novel	L164L	0.8
STAD	chr17	33291450	Intron	novel		0.34
STAD	chr17	33015986	Silent	NA	S474S	0.22
STAD	chr17	33021242	Missense_Mutation	NA	A422V	0.21
STAD	chr17	33291512	Intron	novel		0.15
STAD	chr17	33023858	Splice_Region	novel		0.13
STAD	chr17	33021241	Silent	rs759168920	A422A	0.47
STAD	chr17	34156464	Silent	NA	T23T	0.19
STAD	chr17	33291470	Intron	novel		0.14
STAD	chr17	33025952	Missense_Mutation	novel	H339R	0.24
STAD	chr17	34156058	Missense_Mutation	NA	R159C	0.3
STAD	chr17	33291750	Intron	novel		0.19
STAD	chr17	33291488	Intron	novel		0.08
STAD	chr17	33088983	Silent	rs556982917	T238T	0.28
STAD	chr17	33111919	Missense_Mutation	NA	T235I	0.16
STAD	chr17	33291760	Intron	novel		0.45
STAD	chr17	33291818	Intron	novel		0.47
THYM	chr17	33291926	Intron	novel		0.31
UCEC	chr17	33023938	Silent	novel	L373L	0.06
UCEC	chr17	33291458	Intron	novel		0.35
UCEC	chr17	33028312	Silent	NA	T305T	0.45
UCEC	chr17	34156500	Silent	novel	S11S	0.35
UCEC	chr17	33013999	Missense_Mutation	rs201100877	T502M	0.46
UCEC	chr17	34156386	Silent	rs778759008	F49F	0.49
UCEC	chr17	33013624	3'UTR	novel		0.43
UCEC	chr17	33017611	Silent	NA	I454I	0.27
UCEC	chr17	34156445	Missense_Mutation	NA	R30C	0.36
UCEC	chr17	33111918	Splice_Region	NA	T235T	0.38
UCEC	chr17	33013792	3'UTR	rs143229408		0.15
UCEC	chr17	34156411	Missense_Mutation	NA	R41Q	0.22
UCEC	chr17	33013499	3'UTR	novel		0.1
UCEC	chr17	33015970	Splice_Site	novel	X479_splice	0.25
UCEC	chr17	33013876	3'UTR	novel		0.36
UCEC	chr17	34156476	Silent	novel	I19I	0.58
UCEC	chr17	33021255	Missense_Mutation	novel	E418Q	0.25
UCEC	chr17	33021227	Missense_Mutation	novel	A427V	0.62
UCEC	chr17	33015970	Splice_Site	novel	X479_splice	0.3
UCEC	chr17	33013770	3'UTR	novel		0.39
UCEC	chr17	33017640	Missense_Mutation	novel	L445I	0.48
UCEC	chr17	34156389	Silent	novel	A48A	0.26
UCEC	chr17	33023908	Silent	novel	S383S	0.3
UCEC	chr17	33028267	Silent	novel	C320C	0.07
UCEC	chr17	33023858	Splice_Region	novel		0.35
UCEC	chr17	33028338	Nonsense_Mutation	novel	*L296_D297insPLSICITTT**	0.07
UCEC	chr17	33013852	3'UTR	novel		0.44
UCEC	chr17	33112026	Silent	rs201936906	G199G	0.56
UCEC	chr17	33028330	Frame_Shift_Del	novel	*P300Lfs48**	0.11
UCEC	chr17	34156386	Silent	rs778759008	F49F	0.49
UCEC	chr17	34156279	Missense_Mutation	novel	V85A	0.38
UCEC	chr17	34156479	Silent	novel	Q18Q	0.3
UCEC	chr17	33021284	Frame_Shift_Ins	novel	*F408Yfs3**	0.08
UCEC	chr17	33013766	3'UTR	novel		0.3
UCEC	chr17	34156654	5'UTR	novel		0.44
UCEC	chr17	34156002	Silent	novel	E177E	0.15
UCEC	chr17	33013557	3'UTR	novel		0.51
UCEC	chr17	33013649	3'UTR	novel		0.53
UCEC	chr17	34156422	Frame_Shift_Ins	novel	*L38Afs3**	0.09
UCEC	chr17	33028339	Silent	rs200229106	L296L	0.28
UCEC	chr17	33111978	Silent	rs748958495	N215N	0.46
UCEC	chr17	34156381	Missense_Mutation	novel	G51D	0.27
UCEC	chr17	33015995	Silent	rs147559460	D471D	0.11
UCEC	chr17	33291632	Intron	novel		0.58
UCEC	chr17	33028265	Missense_Mutation	novel	N321T	0.35
UCEC	chr17	34156137	Silent	rs374323534	S132S	0.09
UCEC	chr17	33291683	Intron	novel		0.38
UCEC	chr17	34156121	Missense_Mutation	rs565904010	R138W	0.48
UCS	chr17	34156121	Missense_Mutation	rs565904010	R138W	0.42
UVM	chr17	34156161	Silent	rs770764384	P124P	0.4

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
CESC	AMP	0.1153	0.0058042
DLBC	DEL	0	0.18166
LGG	AMP	0.0234	0.19963
PAAD	AMP	0.0924	0.20695
PAAD	DEL	0.0652	0.13216
SKCM	AMP	0.1362	9.6912e-06
THCA	DEL	0.002	0.221
UCS	DEL	0.375	0.19877
UVM	DEL	0.0375	0.22482

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.038	Kaplan-Meier Survival Analysis
STAD	0.032	Kaplan-Meier Survival Analysis
SKCM	0.0005	Kaplan-Meier Survival Analysis
CESC	0.047	Kaplan-Meier Survival Analysis
LAML	0.021	Kaplan-Meier Survival Analysis
GBM	0.018	Kaplan-Meier Survival Analysis
DLBC	0.047	Kaplan-Meier Survival Analysis
LGG	0.018	Kaplan-Meier Survival Analysis
CHOL	0.011	Kaplan-Meier Survival Analysis
OV	0.028	Kaplan-Meier Survival Analysis

Drugs

Cell lines and drugs in GSE70138 or GSE92742

Description

Expression

Transcripts

Gene Model

Pathway

Phenotype

GWAS

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000108684 (Gene tree)
Gene ID: 40
Gene Symbol: ASIC2
Alias: ASIC2a|BNC1|BNaC1|hBNaC1|MDEG|ACCN|ACCN1
Full Name: acid sensing ion channel subunit 2
Gene Type: protein_coding
Specie: Homo_sapiens
Strand: Minus strand
Length: 1,161,878 bases
Position: chr17:33,013,087-34,174,964
Accession: 99
Summary: This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000448983	ASIC2-203	750	-	-	- (aa)	-	-
ENST00000225823	ASIC2-201	3443	-	ENSP00000225823	563 (aa)	-	Q16515
ENST00000583395	ASIC2-205	508	-	-	- (aa)	-	-
ENST00000579816	ASIC2-204	559	-	-	- (aa)	-	-
ENST00000359872	ASIC2-202	3179	-	ENSP00000352934	512 (aa)	-	Q16515

Gene Model

Click here to download ENSG00000108684's gene model file

Pathway

Pathway ID	Pathway Name	Source
hsa04742	Taste transduction	KEGG
hsa04750	Inflammatory mediator regulation of TRP channels	KEGG

Phenotype

ensgID	Trait	pValue	Pubmed ID
ENSG00000108684	Body Weight	2.38648693595419E-8	17903300
ENSG00000108684	Body Weight	2.42777359297714E-8	17903300
ENSG00000108684	Body Weight	2.10203284994182E-8	17903300
ENSG00000108684	Body Weight	2.11323545786742E-8	17903300
ENSG00000108684	Gout	3.69207964046275E-11	-
ENSG00000108684	Stroke	3.0862344E-004	19369658
ENSG00000108684	Stroke	5.6735390E-004	19369658
ENSG00000108684	Blood Pressure	8.823e-005	-
ENSG00000108684	Fantasy	8.925e-005	-
ENSG00000108684	Fantasy	4.508e-005	-
ENSG00000108684	Emotions	7.442e-005	-
ENSG00000108684	Body Mass Index	6.1580000E-005	-
ENSG00000108684	Obesity	3.6830000E-005	-
ENSG00000108684	Obesity	1.2520000E-005	-
ENSG00000108684	Body Weight	9.1940000E-005	-
ENSG00000108684	Body Weight	1.4780000E-005	-
ENSG00000108684	Blood Pressure	5.1620000E-005	-
ENSG00000108684	C-Reactive Protein	5.0810000E-005	-
ENSG00000108684	Cholesterol, HDL	8.5830000E-005	-
ENSG00000108684	Cholesterol, HDL	6.5130000E-005	-
ENSG00000108684	Leukocyte Count	9.9640000E-005	-
ENSG00000108684	Body Mass Index	4.8274079E-006	-
ENSG00000108684	Anatomy	5.6168726E-005	-
ENSG00000108684	Platelet Function Tests	2.0100000E-006	-
ENSG00000108684	Platelet Function Tests	1.0150300E-005	-
ENSG00000108684	Platelet Function Tests	2.1159977E-007	-
ENSG00000108684	Platelet Function Tests	8.2978604E-006	-
ENSG00000108684	Platelet Function Tests	2.6419798E-006	-
ENSG00000108684	Platelet Function Tests	1.0161654E-006	-
ENSG00000108684	Platelet Function Tests	1.3086609E-006	-
ENSG00000108684	Platelet Function Tests	1.3767600E-005	-
ENSG00000108684	Child Development Disorders, Pervasive	6.3000000E-005	-
ENSG00000108684	Cytokine Receptor gp130	4.4610000E-005	-
ENSG00000108684	Homocysteine	1.3650000E-005	-
ENSG00000108684	Homocysteine	2.3800000E-005	-
ENSG00000108684	Sex Hormone-Binding Globulin	1.1490000E-006	-
ENSG00000108684	3-hydroxy-1-methylpropylmercapturic acid	1E-6	26053186
ENSG00000108684	Smoking	1E-6	26053186
ENSG00000108684	Angiotensin-Converting Enzyme Inhibitors	7E-7	28030426
ENSG00000108684	Bronchodilator Agents	5E-6	26634245
ENSG00000108684	Lung Volume Measurements	5E-6	26634245
ENSG00000108684	Blood Coagulation Factors	2E-6	21810271
ENSG00000108684	Factor VIII	2E-6	21810271
ENSG00000108684	Electrocardiography	1E-7	24324551
ENSG00000108684	Trypanosoma cruzi	1E-7	24324551
ENSG00000108684	Amyotrophic lateral sclerosis 1	4E-6	24529757
ENSG00000108684	Longevity	6E-6	26912274
ENSG00000108684	Electrocardiography	9E-6	24324551
ENSG00000108684	Trypanosoma cruzi	9E-6	24324551
ENSG00000108684	Coronary Disease	6E-6	21378988
ENSG00000108684	Hypothyroidism	7E-6	22493691
ENSG00000108684	Chemokine CCL2	4E-6	23251661

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000108684	rs17782805	17	33568429	?	Angiotensin-converting enzyme inhibitor intolerance	28030426	[1.444594-2.33528]	1.836717	EFO_0005325
ENSG00000108684	rs144908958	17	33205396	A	Post bronchodilator FEV1/FVC ratio	26634245	unit increase	0.616	GO_0097366\|EFO_0004713
ENSG00000108684	rs7213812	17	33121631	C	Longevity	26912274	[NR]	1.29	EFO_0004300
ENSG00000108684	rs320637	17	33338310	?	Amyotrophic lateral sclerosis (sporadic)	24529757			EFO_0001357
ENSG00000108684	rs72819126	17	33158862	?	3-hydroxy-1-methylpropylmercapturic acid levels in smokers	26053186	[NR] unit decrease	0.5993	EFO_0004318\|EFO_0007015
ENSG00000108684	rs117364231	17	33979404	?	PR interval in Tripanosoma cruzi seropositivity	24324551			EFO_0004462\|EFO_0005530
ENSG00000108684	rs116908816	17	34095680	?	QT interval in Tripanosoma cruzi seropositivity	24324551			EFO_0004682\|EFO_0005530
ENSG00000108684	rs17808461	17	33066684	A	Obesity-related traits	23251661	[NR] pg/mL increase	0.02	EFO_0004749
ENSG00000108684	rs9910292	17	33037523	T	Mosquito bite size	28199695	[0.02-0.05] unit decrease	0.0347797	EFO_0008378
ENSG00000108684	rs11651843	17	33454361	?	Serum folate levels	29953918			EFO_0005111
ENSG00000108684	rs9915356	17	33285476	A	Self-reported math ability	30038396	[0.0093-0.0171] unit increase	0.0132	EFO_0004875
ENSG00000108684	rs7213721	17	33292327	G	Highest math class taken	30038396	[0.008-0.017] unit increase	0.0125	EFO_0004875
ENSG00000108684	rs870589	17	33287436	A	Educational attainment (MTAG)	30038396	[0.0062-0.0112] unit decrease	0.0087	EFO_0004784
ENSG00000108684	rs9915356	17	33285476	A	Self-reported math ability (MTAG)	30038396	[0.01-0.017] unit increase	0.0135	EFO_0004875
ENSG00000108684	rs870589	17	33287436	A	Highest math class taken (MTAG)	30038396	[0.0098-0.0164] unit decrease	0.0131	EFO_0004875
ENSG00000108684	rs59692040	17	33313040	T	Cognitive performance (MTAG)	30038396	[0.0096-0.019] unit increase	0.0143	EFO_0008354
ENSG00000108684	rs319748	17	33227515	A	Menstruation quality of life impact (bowel movement)	29855537	[0.11-0.26] unit decrease	0.1860469	EFO_0009366
ENSG00000108684	rs117217798	17	33156215	C	Interleukin-16 levels	27989323	[0.12-0.29] SD units increase	0.2036	EFO_0008173
ENSG00000108684	rs1354492	17	33410403	A	vWF and FVIII levels	21810271	[0.10-0.22] IU/dL increase	0.16	EFO_0004630\|EFO_0004634
ENSG00000108684	rs9901756	17	34137135	A	Hypothyroidism	22493691	[1.11-1.32]	1.21	EFO_0004705
ENSG00000108684	rs11650066	17	33960430	?	Coronary heart disease	21378988			EFO_0001645
ENSG00000108684	rs11652874	17	33643464	G	Severe gingival inflammation	28459102	[0.48-1] unit increase	0.740595	HP_0000225
ENSG00000108684	rs80343429	17	33229663	A	Clopidogrel active metabolite levels	28207573	[NR] unit increase	8.01	EFO_0007966
ENSG00000108684	rs34187563	17	33399144	T	Depression (broad)	29662059	[0.004-0.0088] unit decrease	0.0064	EFO_0003761
ENSG00000108684	rs560769564	17	33036696	?	General cognitive ability	29844566	z-score decrease	4.777	EFO_0004337
ENSG00000108684	rs140016681	17	33973273	?	Reaction time	29844566	[0.0044-0.0111] unit increase	0.0077347	EFO_0008393
ENSG00000108684	rs1875872	17	33468698	A	Plasma parathyroid hormone levels	30134803	[0.081-0.199] unit increase	0.14	EFO_0004752
ENSG00000108684	rs4510073	17	33128407	?	Response to long-term oxygen therapy in chronic obstructive pulmonary disease	30353303			EFO_0009796\|EFO_0000341
ENSG00000108684	rs2089164	17	33384425	?	Adolescent idiopathic scoliosis	30019117			EFO_0005423
ENSG00000108684	rs870589	17	33287436	A	Educational attainment (years of education)	30038396	[0.0052-0.0106] unit decrease	0.0079	EFO_0004784
ENSG00000108684	rs9903658	17	33729207	G	Serum bilirubin levels in metabolic syndrome	30621171	[0.13-0.3] mg/dL increase	0.218	EFO_0004570\|EFO_0000195
ENSG00000108684	rs73982435	17	33146437	?	Body mass index	30595370			EFO_0004340
ENSG00000108684	rs35578035	17	33422168	?	Body mass index	30595370			EFO_0004340
ENSG00000108684	rs12450465	17	33053293	G	Polycystic ovary syndrome	30343302	NR unit decrease	0.8755	EFO_0000660
ENSG00000108684	rs4365329	17	33298869	T	Chronotype	30696823		1.0195894	EFO_0008328
ENSG00000108684	rs12938235	17	33298182	T	Chronotype	30696823	[0.0061-0.0128] unit increase	0.00944011	EFO_0008328

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000108684's network

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0003026	regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback	-	IEA	Process
GO:0005515	protein binding	11802773.	IPI	Function
GO:0005886	plasma membrane	-	TAS	Component
GO:0005887	integral component of plasma membrane	-	IEA	Component
GO:0007268	chemical synaptic transmission	8626462.	TAS	Process
GO:0007417	central nervous system development	8626462.	TAS	Process
GO:0007422	peripheral nervous system development	8626462.	TAS	Process
GO:0007602	phototransduction	-	IEA	Process
GO:0007605	sensory perception of sound	-	IEA	Process
GO:0010447	response to acidic pH	-	IEA	Process
GO:0015280	ligand-gated sodium channel activity	-	IEA	Function
GO:0015672	monovalent inorganic cation transport	8626462.	TAS	Process
GO:0019229	regulation of vasoconstriction	-	IEA	Process
GO:0034220	ion transmembrane transport	-	TAS	Process
GO:0034765	regulation of ion transmembrane transport	-	IEA	Process
GO:0035418	protein localization to synapse	-	IEA	Process
GO:0035725	sodium ion transmembrane transport	-	IEA	Process
GO:0042391	regulation of membrane potential	-	IEA	Process
GO:0043025	neuronal cell body	-	IEA	Component
GO:0043066	negative regulation of apoptotic process	-	IEA	Process
GO:0043197	dendritic spine	-	IEA	Component
GO:0050915	sensory perception of sour taste	19812697.	IMP	Process
GO:0050974	detection of mechanical stimulus involved in sensory perception	-	IEA	Process
GO:0051965	positive regulation of synapse assembly	-	IEA	Process

EuRBPDB

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Gene Ontology

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