TissGDB

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	TissGeneSummary
	TissGeneExp
	TissGene-miRNA
	TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions
	TissGeneNet
	TissGeneProg
	TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for F12

Gene summary

Basic gene information	Gene symbol	F12
	Gene name	coagulation factor XII (Hageman factor)
	Synonyms	HAE3\|HAEX\|HAF
	Cytomap	UCSC genome browser: 5q35.3
	Type of gene	protein-coding
	RefGenes	NM_000505.3,
	Description	Hageman factorbeta-factor XIIa part 1beta-factor XIIa part 2coagulation factor XIIcoagulation factor XIIa heavy chaincoagulation factor XIIa light chain
	Modification date	20141221
dbXrefs	MIM : 610619
	HGNC : HGNC
	Ensembl : ENSG00000131187
	HPRD : 01992
	Vega : OTTHUMG00000163403
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_F12
	BioGPS: 2161
Pathway	NCI Pathway Interaction Database: F12
	KEGG: F12
	REACTOME: F12
	Pathway Commons: F12
Context	iHOP: F12
	ligand binding site mutation search in PubMed: F12
	UCL Cancer Institute: F12
Assigned class in TissGDB*	A
Included tissue-specific gene expression resources	HPA,TiGER,GTEx
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx)	LiverStomach
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)	LIHCSTAD
Reference showing the relevant tissue of F12	Human foreskin fibroblast-like stromal cells can differentiate into functional hepatocytic cells. Huang HI, Chen SK, Wang RY, Shen CR, Cheng YC. Cell Biol Int. 2013 Dec;37(12):1308-19. doi: 10.1002/cbin.10175. Epub 2013 Sep 16. (pmid:23956153) go to article
Description by TissGene annotations

* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID	GO term	PubMed ID
GO:0002353	plasma kallikrein-kinin cascade	18725990
GO:0002542	Factor XII activation	18725990
GO:0010756	positive regulation of plasminogen activation	89876
GO:0016485	protein processing	18725990
GO:0016540	protein autoprocessing	18725990
GO:0030194	positive regulation of blood coagulation	6793628
GO:0031638	zymogen activation	18725990
GO:0051788	response to misfolded protein	18725990
GO:0051919	positive regulation of fibrinolysis	89876
GO:0002353	plasma kallikrein-kinin cascade	18725990
GO:0002542	Factor XII activation	18725990
GO:0010756	positive regulation of plasminogen activation	89876
GO:0016485	protein processing	18725990
GO:0016540	protein autoprocessing	18725990
GO:0030194	positive regulation of blood coagulation	6793628
GO:0031638	zymogen activation	18725990
GO:0051788	response to misfolded protein	18725990
GO:0051919	positive regulation of fibrinolysis	89876

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TissGeneExp for F12

Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)

Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01)

Gene expressions across normal tissues of GTEx data
(GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct)
- Here, we shows the matched tissue types only among our 28 cancer types.

Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)

Cancer type	Mean(exp) in tumor	Mean(exp) in matched normal	Log2FC	P-val.	FDR
LUAD	-0.426929498	-3.252541567	2.825612069	1.50E-25	6.73E-24
LUSC	0.419995553	-3.044020134	3.464015686	1.46E-26	3.91E-25
THCA	-2.514238645	-3.759725086	1.245486441	6.01E-09	3.07E-08
COAD	1.904600077	0.48185777	1.422742308	3.70E-08	2.87E-07
KIRC	-1.114194153	-3.103351098	1.989156944	4.77E-11	1.76E-10
BRCA	-0.14253582	-2.546943715	2.404407895	1.46E-26	1.57E-25
PRAD	-1.122134538	-2.620105692	1.497971154	3.70E-12	1.54E-10
KIRP	0.844580847	-2.324641028	3.169221875	1.02E-10	1.15E-09
ESCA	0.323121756	-2.439078244	2.7622	0.00479	0.03832
BLCA	0.249125584	-2.164521785	2.413647368	0.00188	0.012119188
KICH	-4.526301153	-2.987465153	-1.538836	0.00376	0.007301357
STAD	0.538862097	-1.205066028	1.743928125	0.000488	0.002974287
LIHC	6.315150847	8.038564847	-1.723414	4.71E-05	0.000175225

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TissGene-miRNA for F12

Significantly anti-correlated miRNAs of TissGene across 28 cancer types
(Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016)
(TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21)
(TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16)
(Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25))

Cancer type

miRNA id

miRNA accession

P-val.

Coeff.

# samples

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TissGeneMut for F12

TissGeneSNV for F12

nsSNV counts per each loci.
Different colors of circles represent different cancer types. Circle size denotes number of samples.
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)
* Click on the image to enlarge it in a new window.

Somatic nucleotide variants of TissGene across 28 cancer types
(X-axis: cancer type and Y-axis: % of mutated samples)
The numbers in parentheses are numbers of samples with mutation (nsSNVs).
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)

- nsSNVs sorted by frequency.

AAchange	Cancer type	# samples
p.Q572R	LIHC	1
p.Q294H	SKCM	1
p.I149M	UCS	1
p.R172Q	CHOL	1
p.P342L	DLBC	1
p.Q254R	STAD	1
p.P525S	HNSC	1
p.L260M	LUAD	1
p.H412Y	BLCA	1
p.Q294H	KIRC	1
p.Q483*	LUAD	1
p.P304S	KIRP	1
p.T180A	SARC	1
p.E570Q	BLCA	1
p.S585G	HNSC	1
p.A207P	BRCA	1
p.R445C	PRAD	1
p.G187V	LUAD	1
p.R84X	COAD	1
p.I273F	UVM	1
p.S19L	UCEC	1
p.Y386H	KIRP	1
p.E45K	LGG	1
p.F509L	LUSC	1
p.H54N	THYM	1
p.A74D	ESCA	1
p.D422Y	PAAD	1
p.Q523R	SKCM	1
p.E154K	STAD	1
p.L120I	ESCA	1
p.F49S	READ	1
p.Q468*	CESC	1
p.T43N	PCPG	1
p.T62A	STAD	1
p.Y289H	KIRP	1
p.Q483*	CESC	1
p.E530K	COAD	1
p.Y289C	KIRP	1
p.P314L	PAAD	1
p.H59Y	BLCA	1
p.V537E	LUAD	1
p.R248L	KIRP	1
p.R310K	SKCM	1

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TissGeneCNV for F12

Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples)
(TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16)

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TissGeneFusions for F12

Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)

Database	Src	Cancer type	Sample	Fusion gene	ORF	5'-gene BP	3'-gene BP
Chimerdb3.0	FusionScan	LUAD	TCGA-55-8299-01A	LMAN2-F12	In-Frame	chr5:176761284	chr5:176831091
TCGAfusionPortal	PRADA	LUAD	TCGA-55-8299-01A	LMAN2-F12	In-frame	Chr5:176761285	Chr5:176831091

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TissGeneNet for F12

Co-expressed gene networks based on protein-protein interaction data (CePIN)
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(PINA2 ppi data)

BRCA (tumor)	BRCA (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

COAD (tumor)	COAD (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

HNSC (tumor)	HNSC (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

KICH (tumor)	KICH (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

KIRC (tumor)	KIRC (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

KIRP (tumor)	KIRP (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

LIHC (tumor)	LIHC (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

LUAD (tumor)	LUAD (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

LUSC (tumor)	LUSC (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

PRAD (tumor)	PRAD (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

STAD (tumor)	STAD (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

THCA (tumor)	THCA (normal)
F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (tumor)	F12, HNF4A, UBE2D2, GP1BA, UBE2D1, HIF1A, UBE2N, EPAS1, KRT1, APP, UBE2E1, UBE2D3, CD93, MMP14, MMP13, APOH, MMP12, KLKB1 (normal)

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TissGeneProg for F12

Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)
* Click on the image to enlarge it in a new window.

Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)
* Click on the image enlarge it in a new window.

Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)
* Click on the image enlarge it in a new window.

Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)
* Click on the image enlarge it in a new window.

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TissGeneClin for F12

TissGeneDrug for F12

Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)

DrugBank ID	Drug name	Drug activity	Drug type	Drug status
DB06689	Ethanolamine Oleate	Activator	Small molecule	Approved

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TissGeneDisease for F12

Disease information associated with TissGene
(DisGeNet, 2016-06-01)

Disease ID	Disease name	# pubmeds	Source
umls:C0015526	Factor XII Deficiency	16	BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
umls:C0019243	Angioedemas, Hereditary	13	BeFree,CTD_human
umls:C0042487	Venous Thrombosis	6	GAD,LHGDN
umls:C1857728	Hereditary Angioedema Type III	5	BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
umls:C0010068	Coronary heart disease	4	BeFree,GAD
umls:C1861172	Venous Thromboembolism	4	GAD
umls:C1956346	Coronary Artery Disease	4	BeFree,GAD,LHGDN
umls:C0007222	Cardiovascular Diseases	3	BeFree,GAD
umls:C0020538	Hypertensive disease	3	CTD_human,GAD
umls:C0027051	Myocardial Infarction	3	GAD
umls:C0948089	Acute Coronary Syndrome	3	GAD,LHGDN
umls:C0038454	Cerebrovascular accident	2	BeFree
umls:C0040038	Thromboembolism	2	BeFree,CTD_human
umls:C0398623	Thrombophilia	2	BeFree,GAD
umls:C0000737	Abdominal Pain	1	BeFree
umls:C0008495	Chorioamnionitis	1	GAD
umls:C0010054	Coronary Arteriosclerosis	1	BeFree,GAD
umls:C0011603	Dermatitis	1	BeFree
umls:C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	GAD
umls:C0015944	Fetal Membranes, Premature Rupture	1	GAD
umls:C0017661	IGA Glomerulonephritis	1	CTD_human
umls:C0019080	Hemorrhage	1	GAD
umls:C0019087	Hemorrhagic Disorders	1	GAD
umls:C0020443	Hypercholesterolemia	1	GAD
umls:C0022661	Kidney Failure, Chronic	1	GAD
umls:C0022876	Premature Obstetric Labor	1	GAD
umls:C0023904	Liver Neoplasms, Experimental	1	CTD_human
umls:C0027627	Neoplasm Metastasis	1	BeFree
umls:C0032914	Pre-Eclampsia	1	GAD
umls:C0035326	Retinal vascular occlusion	1	GAD
umls:C0040053	Thrombosis	1	GAD
umls:C0151526	Premature Birth	1	GAD
umls:C0221232	Welts	1	BeFree
umls:C0242666	Protein S Deficiency	1	GAD
umls:C0752143	Intracranial Thrombosis	1	GAD
umls:C0852077	Blood Coagulation Disorders, Inherited	1	GAD
umls:C0948008	Ischemic stroke	1	BeFree,GAD
umls:C1963943	Atherothrombosis	1	GAD
umls:C2919032	Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified	1	GAD
umls:C3272363	Ischemic Cerebrovascular Accident	1	BeFree
umls:C1960459	Hereditary angioedema with normal C1 esterase inhibitor activity	0	ORPHANET