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| TissGeneSummary for SERPIND1 |
 Gene summary |
| Basic gene information | Gene symbol | SERPIND1 |
| Gene name | serpin peptidase inhibitor, clade D (heparin cofactor), member 1 | |
| Synonyms | D22S673|HC2|HCF2|HCII|HLS2|LS2|THPH10 | |
| Cytomap | UCSC genome browser: 22q11.21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000185.3, | |
| Description | heparin cofactor 2leuserpin 2protease inhibitor leuserpin-2serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1serpin D1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 142360 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000099937 | ||
| HPRD : 00795 | ||
| Vega : OTTHUMG00000150755 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SERPIND1 | |
| BioGPS: 3053 | ||
| Pathway | NCI Pathway Interaction Database: SERPIND1 | |
| KEGG: SERPIND1 | ||
| REACTOME: SERPIND1 | ||
| Pathway Commons: SERPIND1 | ||
| Context | iHOP: SERPIND1 | |
| ligand binding site mutation search in PubMed: SERPIND1 | ||
| UCL Cancer Institute: SERPIND1 | ||
| 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 SERPIND1 | ||
| 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 |
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| TissGeneExp for SERPIND1 |
| 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 |
| BRCA | -3.057264792 | -1.904314792 | -1.15295 | 2.15E-09 | 7.51E-09 |
| THCA | -2.920812963 | 0.470032799 | -3.390845763 | 3.27E-32 | 7.24E-29 |
| KICH | -3.182833845 | -2.109357845 | -1.073476 | 4.21E-06 | 1.42E-05 |
| KIRP | -3.45007647 | -2.039710845 | -1.410365625 | 1.73E-08 | 1.28E-07 |
| LUSC | -0.371915256 | 3.303941606 | -3.675856863 | 2.85E-12 | 1.27E-11 |
| LIHC | 9.842686155 | 11.12751616 | -1.28483 | 0.0023 | 0.005765576 |
| COAD | -0.905139691 | -2.762081999 | 1.856942308 | 0.000438 | 0.001372901 |
| BLCA | -1.711517424 | 0.967129945 | -2.678647368 | 8.19E-05 | 0.000931584 |
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| TissGene-miRNA for SERPIND1 |
| 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 SERPIND1 |
| TissGeneSNV for SERPIND1 |
| 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.E62K | SKCM | 2 |
| p.F253V | STAD | 1 |
| p.F86V | UCEC | 1 |
| p.R125C | UCEC | 1 |
| p.D96E | LUSC | 1 |
| p.N130K | PRAD | 1 |
| p.R492K | BLCA | 1 |
| p.L246V | UCEC | 1 |
| p.A189V | STAD | 1 |
| p.E72Q | BLCA | 1 |
| p.M288I | BLCA | 1 |
| p.Y92C | COAD | 1 |
| p.S220L | HNSC | 1 |
| p.D78N | STAD | 1 |
| p.R418Q | KIRP | 1 |
| p.I10V | LIHC | 1 |
| p.R212K | SKCM | 1 |
| p.K367N | BLCA | 1 |
| p.H207N | LUAD | 1 |
| p.E407* | BLCA | 1 |
| p.R492T | UCEC | 1 |
| p.E247K | BLCA | 1 |
| p.A277P | UVM | 1 |
| p.A334T | UCEC | 1 |
| p.F397I | COAD | 1 |
| p.R122W | COAD | 1 |
| p.P375R | BRCA | 1 |
| p.R520T | UCEC | 1 |
| p.D223Y | LUAD | 1 |
| p.Q227* | HNSC | 1 |
| p.D94N | UCEC | 1 |
| p.E475K | LUSC | 1 |
| p.E348K | SKCM | 1 |
| p.Y243D | UCEC | 1 |
| p.E448K | SKCM | 1 |
| p.S260* | HNSC | 1 |
| p.D435N | SKCM | 1 |
| p.R492K | CESC | 1 |
| p.L488V | SKCM | 1 |
| p.V177L | OV | 1 |
| p.R390Q | KIRP | 1 |
| p.A433V | KIRC | 1 |
| p.E74K | SKCM | 1 |
| p.D77E | DLBC | 1 |
| p.R431M | LUAD | 1 |
| p.A161V | STAD | 1 |
| p.E33Q | HNSC | 1 |
| p.T457M | UCEC | 1 |
| p.E407D | LIHC | 1 |
| p.E172Q | CESC | 1 |
| p.D276N | SKCM | 1 |
| p.K302T | COAD | 1 |
| p.T104R | COAD | 1 |
| p.F477L | PRAD | 1 |
| p.A433T | LGG | 1 |
| p.L405I | ACC | 1 |
| p.D223N | SKCM | 1 |
| p.K322M | SARC | 1 |
| p.M267I | SKCM | 1 |
| p.D90N | SKCM | 1 |
| p.I198T | HNSC | 1 |
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| TissGeneCNV for SERPIND1 |
| 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 SERPIND1 |
| 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 SERPIND1 |
| 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) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
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| COAD (tumor) | COAD (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| SERPIND1, ELANE, PITX3, F2, TF, CTSG (tumor) | SERPIND1, ELANE, PITX3, F2, TF, CTSG (normal) |
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| Top |
| TissGeneProg for SERPIND1 |
| 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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| TissGeneClin for SERPIND1 |
| TissGeneDrug for SERPIND1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB00407 | Ardeparin | Agonist | Small molecule | Approved|Withdrawn |
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| TissGeneDisease for SERPIND1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0302592 | Cervix carcinoma | 3 | BeFree |
| umls:C0398623 | Thrombophilia | 3 | BeFree,CTD_human |
| umls:C0398626 | Heparin cofactor II deficiency (disorder) | 3 | CTD_human,UNIPROT |
| umls:C1302773 | Low Grade Squamous Intraepithelial Neoplasia | 3 | BeFree |
| umls:C0003850 | Arteriosclerosis | 2 | BeFree |
| umls:C0004153 | Atherosclerosis | 2 | BeFree |
| umls:C0007847 | Malignant tumor of cervix | 2 | BeFree |
| umls:C0023903 | Liver neoplasms | 2 | BeFree |
| umls:C0206708 | Cervical Intraepithelial Neoplasia | 2 | BeFree |
| umls:C0349459 | Cervical intraepithelial neoplasia grade 2 | 2 | BeFree |
| umls:C0002895 | Anemia, Sickle Cell | 1 | BeFree |
| umls:C0007274 | Carotid Artery Thrombosis | 1 | CTD_human |
| umls:C0018790 | Cardiac Arrest | 1 | BeFree |
| umls:C0023895 | Liver diseases | 1 | BeFree |
| umls:C0025472 | Mesenteric Vascular Occlusion | 1 | CTD_human |
| umls:C0027051 | Myocardial Infarction | 1 | LHGDN |
| umls:C0032914 | Pre-Eclampsia | 1 | LHGDN |
| umls:C0034067 | Pulmonary Emphysema | 1 | BeFree |
| umls:C0034341 | Pyruvate Carboxylase Deficiency Disease | 1 | BeFree |
| umls:C0149871 | Deep Vein Thrombosis | 1 | BeFree |
| umls:C0265101 | Carotid artery occlusion | 1 | BeFree |
| umls:C0333873 | Squamous intraepithelial lesion | 1 | BeFree |
| umls:C0333875 | High-Grade Squamous Intraepithelial Lesions | 1 | BeFree |
| umls:C1512409 | Hepatocarcinogenesis | 1 | BeFree |
| umls:C1861172 | Venous Thromboembolism | 1 | CTD_human |
| umls:C2239176 | Liver carcinoma | 1 | BeFree |
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