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| TissGeneSummary for CSTB |
 Gene summary |
| Basic gene information | Gene symbol | CSTB |
| Gene name | cystatin B (stefin B) | |
| Synonyms | CST6|EPM1|EPM1A|PME|STFB|ULD | |
| Cytomap | UCSC genome browser: 21q22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000100.3, | |
| Description | CPI-Bcystatin-Bliver thiol proteinase inhibitor | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 601145 | |
| HGNC : HGNC | ||
| HPRD : 03091 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CSTB | |
| BioGPS: 1476 | ||
| Pathway | NCI Pathway Interaction Database: CSTB | |
| KEGG: CSTB | ||
| REACTOME: CSTB | ||
| Pathway Commons: CSTB | ||
| Context | iHOP: CSTB | |
| ligand binding site mutation search in PubMed: CSTB | ||
| UCL Cancer Institute: CSTB | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Esophagus | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | ESCA | |
| Reference showing the relevant tissue of CSTB | ||
| Description by TissGene annotations | TissgsLTS Fused withTSGene | |
| * 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:0010466 | negative regulation of peptidase activity | 6203523 | GO:0010951 | negative regulation of endopeptidase activity | 3488317 | GO:0045861 | negative regulation of proteolysis | 3488317 | GO:0010466 | negative regulation of peptidase activity | 6203523 | GO:0010951 | negative regulation of endopeptidase activity | 3488317 | GO:0045861 | negative regulation of proteolysis | 3488317 |
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| TissGeneExp for CSTB |
| 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 |
| HNSC | 2.514411349 | 4.070634605 | -1.556223256 | 0.000158 | 0.000664486 |
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| TissGene-miRNA for CSTB |
| 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 CSTB |
| TissGeneSNV for CSTB |
| 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.K33N | LUAD | 1 |
| p.E76K | CESC | 1 |
| p.S42L | LUAD | 1 |
| p.E62K | PCPG | 1 |
| p.H58Y | PRAD | 1 |
| p.H75Y | BLCA | 1 |
| p.V69M | STAD | 1 |
| p.L73V | HNSC | 1 |
| p.E76G | LIHC | 1 |
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| TissGeneCNV for CSTB |
| 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 CSTB |
| 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 | ChiTaRs | NA | BU940644 | CALU-CSTB | chr7:128394363 | chr21:45193912 | |
| Chimerdb3.0 | ChiTaRs | NA | BU534964 | IL4I1-CSTB | chr19:50432525 | chr21:45193832 | |
| Chimerdb3.0 | ChiTaRs | NA | AA554222 | CSTB-EXT2 | chr21:45193977 | chr11:44200528 | |
| Chimerdb3.0 | ChiTaRs | NA | AW265426 | CSTB-CSTB | chr21:45194579 | chr21:45193831 | |
| Chimerdb3.0 | ChiTaRs | NA | BQ691473 | CSTB-TMEM147 | chr21:45196160 | chr19:36037464 |
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| TissGeneNet for CSTB |
| 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) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| COAD (tumor) | COAD (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| KICH (tumor) | KICH (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| STAD (tumor) | STAD (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| THCA (tumor) | THCA (normal) |
| CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (tumor) | CSTB, CFTR, KIAA0101, VHL, HLA-B, CUL3, CTSL1, CTSB, RAD21, PINX1, DCUN1D1, EPB41, CTSD, SPRY2, LIN54, CTSH, CST3 (normal) |
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| TissGeneProg for CSTB |
| 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 CSTB |
| TissGeneDrug for CSTB |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for CSTB |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0751785 | Unverricht-Lundborg Syndrome | 41 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
| umls:C0751778 | Myoclonic Epilepsies, Progressive | 40 | BeFree,LHGDN |
| umls:C0014544 | Epilepsy | 10 | BeFree,GAD |
| umls:C0014550 | Epilepsies, Myoclonic | 9 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 7 | BeFree |
| umls:C0027066 | Myoclonus | 6 | BeFree |
| umls:C0678222 | Breast Carcinoma | 6 | BeFree |
| umls:C0524851 | Neurodegenerative Disorders | 5 | BeFree |
| umls:C0004134 | Ataxia | 4 | BeFree |
| umls:C0036572 | Seizures | 4 | BeFree,RGD |
| umls:C0751783 | Lafora Disease | 4 | BeFree |
| umls:C1458155 | Mammary Neoplasms | 4 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 3 | BeFree |
| umls:C0270853 | Myoclonic Epilepsy, Juvenile | 3 | BeFree |
| umls:C0007758 | Cerebellar Ataxia | 2 | BeFree |
| umls:C0013080 | Down Syndrome | 2 | BeFree |
| umls:C0019693 | HIV Infections | 2 | BeFree |
| umls:C0025286 | Meningioma | 2 | BeFree,CTD_human,LHGDN |
| umls:C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| umls:C0027765 | nervous system disorder | 2 | BeFree |
| umls:C0268226 | Type I Mucolipidosis | 2 | BeFree |
| umls:C0494475 | Tonic - clonic seizures | 2 | BeFree |
| umls:C0686619 | Secondary malignant neoplasm of lymph node | 2 | BeFree |
| umls:C0751354 | Myoclonus, Action | 2 | BeFree |
| umls:C0001418 | Adenocarcinoma | 1 | BeFree |
| umls:C0004114 | Astrocytoma | 1 | BeFree |
| umls:C0011175 | Dehydration | 1 | BeFree |
| umls:C0014549 | Tonic-Clonic Epilepsy | 1 | BeFree |
| umls:C0017636 | Glioblastoma | 1 | CTD_human |
| umls:C0019189 | Hepatitis, Chronic | 1 | BeFree |
| umls:C0025202 | melanoma | 1 | BeFree |
| umls:C0085633 | Mood swings | 1 | BeFree |
| umls:C0152018 | Esophageal carcinoma | 1 | BeFree |
| umls:C0153690 | Secondary malignant neoplasm of bone | 1 | BeFree |
| umls:C0206681 | Adenocarcinoma, Clear Cell | 1 | BeFree |
| umls:C0220669 | Familial benign neonatal epilepsy | 1 | BeFree |
| umls:C0221505 | Lesion of brain | 1 | BeFree |
| umls:C0235031 | Neurologic Symptoms | 1 | BeFree |
| umls:C0239849 | Harlequin Fetus | 1 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 1 | BeFree |
| umls:C0262404 | Cerebellar degeneration | 1 | BeFree |
| umls:C0270715 | Degenerative Diseases, Central Nervous System | 1 | BeFree |
| umls:C0270764 | Motor Neuron Disease, Lower | 1 | BeFree |
| umls:C0278488 | Carcinoma breast stage IV | 1 | BeFree |
| umls:C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| umls:C0339789 | Congenital deafness | 1 | BeFree |
| umls:C0341439 | Chronic liver disease | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
| umls:C0543874 | Apraxia, oculomotor, Cogan type | 1 | BeFree |
| umls:C0596263 | Carcinogenesis | 1 | BeFree |
| umls:C0600139 | Prostate carcinoma | 1 | BeFree |
| umls:C0677886 | Epithelial ovarian cancer | 1 | BeFree |
| umls:C0684249 | Carcinoma of lung | 1 | BeFree |
| umls:C0742034 | cerebellar function | 1 | BeFree |
| umls:C0853879 | Invasive breast carcinoma | 1 | BeFree |
| umls:C1762616 | Meningioma, benign, no ICD-O subtype | 1 | BeFree |
| umls:C1864923 | Northern epilepsy syndrome | 1 | BeFree |
| umls:C1868677 | PHOTOPAROXYSMAL RESPONSE 1 | 1 | BeFree |
| umls:C2239176 | Liver carcinoma | 1 | BeFree |
| umls:C3489733 | Oculomotor apraxia | 1 | BeFree |
| umls:C3711374 | Nonsyndromic Deafness | 1 | BeFree |
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