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| TissGeneSummary for SERPINC1 |
 Gene summary |
| Basic gene information | Gene symbol | SERPINC1 |
| Gene name | serpin peptidase inhibitor, clade C (antithrombin), member 1 | |
| Synonyms | AT3|AT3D|ATIII|THPH7 | |
| Cytomap | UCSC genome browser: 1q25.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000488.3, | |
| Description | antithrombin-IIIserine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 107300 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000117601 | ||
| HPRD : 00122 | ||
| Vega : OTTHUMG00000037276 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SERPINC1 | |
| BioGPS: 462 | ||
| Pathway | NCI Pathway Interaction Database: SERPINC1 | |
| KEGG: SERPINC1 | ||
| REACTOME: SERPINC1 | ||
| Pathway Commons: SERPINC1 | ||
| Context | iHOP: SERPINC1 | |
| ligand binding site mutation search in PubMed: SERPINC1 | ||
| UCL Cancer Institute: SERPINC1 | ||
| Assigned class in TissGDB* | B | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
| Reference showing the relevant tissue of SERPINC1 | ||
| Description by TissGene annotations | Significant down-regulated DEG TissgsKTS CNV lost TissGeneKTS | |
| * 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 |
| Top |
| TissGeneExp for SERPINC1 |
| 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) |
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| 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) |
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| 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. |
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| 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) |
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| - 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 |
| KIRP | -2.31440167 | 0.36037958 | -2.67478125 | 1.30E-06 | 6.42E-06 |
| KIRC | -2.165205489 | -0.286483267 | -1.878722222 | 1.70E-09 | 5.54E-09 |
| LIHC | 11.61426346 | 13.18142346 | -1.56716 | 0.00106 | 0.002885123 |
| KICH | -2.440880545 | -0.902660545 | -1.53822 | 0.000337 | 0.000800375 |
| Top |
| TissGene-miRNA for SERPINC1 |
| 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 SERPINC1 |
| TissGeneSNV for SERPINC1 |
| 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. |
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| 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) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.E330K | SKCM | 2 |
| p.R161* | LUAD | 1 |
| p.P58H | LUAD | 1 |
| p.W27R | THYM | 1 |
| p.N428K | UCEC | 1 |
| p.R164Q | STAD | 1 |
| p.E145Q | BLCA | 1 |
| p.R56H | UCEC | 1 |
| p.P429L | HNSC | 1 |
| p.R161Q | PAAD | 1 |
| p.P73S | SKCM | 1 |
| p.G411S | SKCM | 1 |
| p.F261L | COAD | 1 |
| p.K43N | UCEC | 1 |
| p.D232N | UCEC | 1 |
| p.D359N | SKCM | 1 |
| p.A118T | SKCM | 1 |
| p.R78W | LGG | 1 |
| p.R79H | UCEC | 1 |
| p.W27R | BRCA | 1 |
| p.D100Y | STAD | 1 |
| p.E241D | PRAD | 1 |
| p.A423T | THYM | 1 |
| p.W339R | LUSC | 1 |
| p.S3F | SKCM | 1 |
| p.M49I | BRCA | 1 |
| p.P439T | UCEC | 1 |
| p.A325T | PAAD | 1 |
| p.V9L | STAD | 1 |
| p.D374N | COAD | 1 |
| p.G12A | BLCA | 1 |
| p.E145K | SKCM | 1 |
| p.P204S | COAD | 1 |
| p.Q286K | HNSC | 1 |
| p.R356H | COAD | 1 |
| p.R293W | UCEC | 1 |
| p.S101F | COAD | 1 |
| p.A91V | UCEC | 1 |
| p.G424D | UCS | 1 |
| p.M52K | LUAD | 1 |
| p.G360D | LIHC | 1 |
| p.F153L | LUSC | 1 |
| p.T433S | OV | 1 |
| p.S11F | BRCA | 1 |
| p.L18V | BLCA | 1 |
| p.R457K | SKCM | 1 |
| p.L178R | STAD | 1 |
| p.Y95C | LUSC | 1 |
| p.R294C | UCEC | 1 |
| p.A415D | LUSC | 1 |
| p.L405R | STAD | 1 |
| p.R391Q | CESC | 1 |
| p.E406G | LIHC | 1 |
| p.P439S | UCEC | 1 |
| p.E145K | BLCA | 1 |
| p.L202P | LUSC | 1 |
| p.S426L | OV | 1 |
| p.R293W | BLCA | 1 |
| p.S68* | LUSC | 1 |
| p.M49I | SKCM | 1 |
| p.G180E | COAD | 1 |
| p.P48S | SKCM | 1 |
| p.Q150* | BLCA | 1 |
| p.R89H | GBM | 1 |
| p.E145D | UCS | 1 |
| p.S169Y | HNSC | 1 |
| p.D374N | UCEC | 1 |
| p.E303Q | BLCA | 1 |
| p.D310E | COAD | 1 |
| p.G228V | LUAD | 1 |
| p.G360S | PRAD | 1 |
| p.Q191E | LUSC | 1 |
| p.T93P | HNSC | 1 |
| p.G360S | LUAD | 1 |
| Top |
| TissGeneCNV for SERPINC1 |
| 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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| Top |
| TissGeneFusions for SERPINC1 |
| 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 |
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| TissGeneNet for SERPINC1 |
| 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) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
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| COAD (tumor) | COAD (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
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| KICH (tumor) | KICH (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (tumor) | SERPINC1, HNF4A, PLCG1, SDC2, PITX3, PLG, CEBPA, F2, GZMA, KLK2, F9 (normal) |
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| Top |
| TissGeneProg for SERPINC1 |
| 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. |
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| 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. |
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| 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. |
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| 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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| Top |
| TissGeneClin for SERPINC1 |
| TissGeneDrug for SERPINC1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB01225 | Enoxaparin | Potentiator | Small molecule | Approved |
| DB06779 | Dalteparin | Potentiator | Small molecule | Approved |
| DB06822 | Tinzaparin | Potentiator | Small molecule | Approved |
| DB08813 | Nadroparin | Potentiator | Small molecule | Approved |
| DB11598 | Antithrombin III human | Biotech | Approved | |
| DB00569 | Fondaparinux sodium | Potentiator | Small molecule | Approved|Investigational |
| DB01109 | Heparin | Potentiator | Small molecule | Approved|Investigational |
| DB06271 | Sulodexide | Potentiator | Biotech | Approved|Investigational |
| Top |
| TissGeneDisease for SERPINC1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0272375 | Antithrombin III Deficiency | 45 | BeFree,CLINVAR,CTD_human,GAD,MGD,ORPHANET,UNIPROT |
| umls:C0600433 | Activated Protein C Resistance | 15 | BeFree |
| umls:C0398623 | Thrombophilia | 13 | BeFree,GAD |
| umls:C0042487 | Venous Thrombosis | 12 | CTD_human,GAD,LHGDN |
| umls:C0242666 | Protein S Deficiency | 11 | BeFree |
| umls:C1861171 | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) | 11 | BeFree |
| umls:C0040038 | Thromboembolism | 10 | BeFree,GAD |
| umls:C0311370 | Lupus anticoagulant disorder | 9 | BeFree |
| umls:C0584960 | Factor V Leiden mutation | 7 | BeFree |
| umls:C0000768 | Congenital Abnormality | 6 | BeFree |
| umls:C0040053 | Thrombosis | 6 | CTD_human,GAD,LHGDN |
| umls:C0149871 | Deep Vein Thrombosis | 6 | BeFree |
| umls:C3658294 | Hereditary Antithrombin Deficiency | 6 | BeFree |
| umls:C0398625 | Protein C Deficiency | 5 | BeFree |
| umls:C0012739 | Disseminated Intravascular Coagulation | 4 | BeFree,CTD_human |
| umls:C0948008 | Ischemic stroke | 4 | BeFree |
| umls:C3272363 | Ischemic Cerebrovascular Accident | 4 | BeFree |
| umls:C0005779 | Blood Coagulation Disorders | 3 | BeFree,CTD_human |
| umls:C0007785 | Cerebral Infarction | 3 | BeFree,GAD |
| umls:C0034065 | Pulmonary Embolism | 3 | BeFree |
| umls:C0038454 | Cerebrovascular accident | 3 | BeFree |
| umls:C0340708 | Deep vein thrombosis of lower limb | 3 | BeFree |
| umls:C0398621 | Hypoplasminogenemia | 3 | BeFree |
| umls:C2239176 | Liver carcinoma | 3 | BeFree |
| umls:C0010068 | Coronary heart disease | 2 | BeFree |
| umls:C0019880 | Homocystinuria | 2 | BeFree |
| umls:C0020538 | Hypertensive disease | 2 | BeFree,GAD |
| umls:C0023903 | Liver neoplasms | 2 | BeFree |
| umls:C0040046 | Thrombophlebitis | 2 | BeFree |
| umls:C0151950 | Deep thrombophlebitis | 2 | BeFree |
| umls:C0162429 | Malnutrition | 2 | BeFree |
| umls:C0237997 | ANTITHROMBIN III DEFICIENCY, FAMILIAL | 2 | BeFree |
| umls:C0267412 | Mesenteric Venous Thrombosis | 2 | BeFree |
| umls:C0338573 | Cerebral venous sinus thrombosis | 2 | BeFree |
| umls:C0376618 | Endotoxemia | 2 | RGD |
| umls:C1861172 | Venous Thromboembolism | 2 | CTD_human,GAD |
| umls:C3495426 | Homocysteinemia | 2 | BeFree |
| umls:C0002395 | Alzheimer's Disease | 1 | GAD |
| umls:C0002726 | Amyloidosis | 1 | BeFree |
| umls:C0002874 | Aplastic Anemia | 1 | BeFree |
| umls:C0003850 | Arteriosclerosis | 1 | BeFree |
| umls:C0003873 | Rheumatoid Arthritis | 1 | BeFree |
| umls:C0004153 | Atherosclerosis | 1 | BeFree |
| umls:C0004364 | Autoimmune Diseases | 1 | BeFree |
| umls:C0007959 | Charcot-Marie-Tooth Disease | 1 | BeFree |
| umls:C0008495 | Chorioamnionitis | 1 | GAD |
| umls:C0010072 | Coronary Thrombosis | 1 | GAD |
| umls:C0011847 | Diabetes | 1 | BeFree |
| umls:C0011849 | Diabetes Mellitus | 1 | BeFree |
| umls:C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | BeFree |
| umls:C0013080 | Down Syndrome | 1 | BeFree |
| umls:C0014859 | Esophageal Neoplasms | 1 | BeFree |
| umls:C0015944 | Fetal Membranes, Premature Rupture | 1 | GAD |
| umls:C0019154 | Hepatic Vein Thrombosis | 1 | BeFree |
| umls:C0020544 | Renal hypertension | 1 | LHGDN |
| umls:C0022346 | Icterus | 1 | RGD |
| umls:C0022658 | Kidney Diseases | 1 | BeFree |
| umls:C0022876 | Premature Obstetric Labor | 1 | GAD |
| umls:C0023234 | Legg-Calve-Perthes Disease | 1 | BeFree |
| umls:C0023449 | Acute lymphocytic leukemia | 1 | BeFree |
| umls:C0023452 | Leukemia, Lymphocytic, Acute, L1 | 1 | BeFree |
| umls:C0024131 | Lupus Vulgaris | 1 | BeFree |
| umls:C0024138 | Lupus Erythematosus, Discoid | 1 | BeFree |
| umls:C0024141 | Lupus Erythematosus, Systemic | 1 | BeFree |
| umls:C0024299 | Lymphoma | 1 | LHGDN |
| umls:C0024790 | Paroxysmal nocturnal hemoglobinuria | 1 | BeFree |
| umls:C0027051 | Myocardial Infarction | 1 | GAD |
| umls:C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| umls:C0029408 | Degenerative polyarthritis | 1 | BeFree |
| umls:C0032460 | Polycystic Ovary Syndrome | 1 | BeFree |
| umls:C0032914 | Pre-Eclampsia | 1 | GAD |
| umls:C0033578 | Prostatic Neoplasms | 1 | LHGDN |
| umls:C0035066 | Renal Artery Obstruction | 1 | LHGDN |
| umls:C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| umls:C0035309 | Retinal Diseases | 1 | BeFree |
| umls:C0039240 | Supraventricular tachycardia | 1 | BeFree |
| umls:C0079102 | Cerebral Thrombosis | 1 | BeFree |
| umls:C0085400 | Neurofibrillary degeneration (morphologic abnormality) | 1 | BeFree |
| umls:C0085580 | Essential Hypertension | 1 | BeFree |
| umls:C0151526 | Premature Birth | 1 | GAD |
| umls:C0152018 | Esophageal carcinoma | 1 | BeFree |
| umls:C0162557 | Liver Failure, Acute | 1 | CTD_human |
| umls:C0272363 | anticoagulant disorders | 1 | BeFree |
| umls:C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | 1 | BeFree |
| umls:C0345904 | Malignant neoplasm of liver | 1 | BeFree |
| umls:C0409974 | Lupus Erythematosus | 1 | BeFree |
| umls:C0546837 | Malignant neoplasm of esophagus | 1 | BeFree |
| umls:C0553681 | Hypofibrinogenemia | 1 | BeFree |
| umls:C0687675 | Pregnancy loss | 1 | GAD |
| umls:C0742472 | Central nervous system lymphoma | 1 | BeFree |
| umls:C0752143 | Intracranial Thrombosis | 1 | CTD_human |
| umls:C0856761 | Budd-Chiari Syndrome | 1 | BeFree |
| umls:C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
| umls:C1261473 | Sarcoma | 1 | BeFree |
| umls:C1519666 | Tumor-Associated Vasculature | 1 | BeFree |
| umls:C1865145 | Congenital disorder of glycosylation type 1B | 1 | BeFree |
| umls:C1959635 | Parvovirus B19 (disease) | 1 | BeFree |
| umls:C2584409 | Prothrombin G20210A mutation | 1 | BeFree |
| umls:C2586031 | Hereditary antithrombin III deficiency | 1 | BeFree |
| umls:C2919032 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 1 | GAD |
| umls:C2936349 | Plaque, Amyloid | 1 | BeFree |
| umls:C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
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