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| TissGeneSummary for PCBD1 |
 Gene summary |
| Basic gene information | Gene symbol | PCBD1 |
| Gene name | pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha | |
| Synonyms | DCOH|PCBD|PCD|PHS | |
| Cytomap | UCSC genome browser: 10q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000281.3, NM_001289797.1, | |
| Description | 4-alpha-hydroxy-tetrahydropterin dehydratase6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)dimerizing cofactor for HNF1phenylalanine hydroxylase-stimulating proteinpterin-4-alpha-carbinolamine deh | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 126090 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000166228 | ||
| HPRD : 00523 | ||
| Vega : OTTHUMG00000018417 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PCBD1 | |
| BioGPS: 5092 | ||
| Pathway | NCI Pathway Interaction Database: PCBD1 | |
| KEGG: PCBD1 | ||
| REACTOME: PCBD1 | ||
| Pathway Commons: PCBD1 | ||
| Context | iHOP: PCBD1 | |
| ligand binding site mutation search in PubMed: PCBD1 | ||
| UCL Cancer Institute: PCBD1 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | LiverPancreas | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHCPAAD | |
| Reference showing the relevant tissue of PCBD1 | ||
| 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 |
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| TissGeneExp for PCBD1 |
| 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 |
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| TissGene-miRNA for PCBD1 |
| 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 PCBD1 |
| TissGeneSNV for PCBD1 |
| 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.R31C | UCEC | 1 |
| p.S94G | COAD | 1 |
| p.H80R | KIRP | 1 |
| p.G84S | UCEC | 1 |
| p.A22D | STAD | 1 |
| p.I75T | UCEC | 1 |
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| TissGeneCNV for PCBD1 |
| 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 PCBD1 |
| 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 PCBD1 |
| 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) |
| PCBD1, ZNF451, KIF5A, NFKB1, KIF5B, ZNF714, COPS5, EP300, ZNF567, DCUN1D1, RPS12, CHMP2A, TRIM5, RPS24, ST13, ZBTB25, PAPOLG, CACNA1C, POLR3A, DENND4A, FAM135A (tumor) | PCBD1, ZNF451, CUL5, GTF3C3, RBL2, SMARCA2, MAP1B, ZNF714, COPS5, DIP2C, EP300, ZNF567, DCUN1D1, EPB41, CHMP2A, RPS24, WDYHV1, KLF13, PAPOLG, DENND4A, FAM135A (normal) |
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| COAD (tumor) | COAD (normal) |
| PCBD1, HNF4A, GTF3C3, GORASP2, CUL3, COPS5, EP300, ZNF567, SMARCD1, RPS12, EHMT1, RPS24, SAP30, ST13, WDYHV1, UBA2, NIF3L1, KLF13, ACIN1, CEBPZ, SEC62 (tumor) | PCBD1, KIF5A, KIAA0101, RBL2, NFKB1, SMARCA2, MAP1B, COPS5, PGAM5, DIP2C, EP300, RPS12, SUPT5H, RPS24, WDYHV1, NIF3L1, KLF13, CACNA1C, DENND4A, MYT1L, ZNF195 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| PCBD1, KIAA0101, KIF5B, SMARCA2, NCL, BRD7, EHMT1, ST13, ZBTB25, SCMH1, NIF3L1, PCBD2, DYRK1B, TIMELESS, ACIN1, THOC1, POLR3A, SEC62, MUT, FAM135A, ZNF195 (tumor) | PCBD1, APP, HNF1A, RPS12, BCAN, CHMP2A, TRIM5, LNX1, RPS24, ZNF263, SAP30, ST13, WDYHV1, NIF3L1, PCBD2, KLF13, SYT1, DYRK1B, THOC1, PAH, CPLX2 (normal) |
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| KICH (tumor) | KICH (normal) |
| PCBD1, CUL5, NFKB1, KIF5B, SMARCA2, COPS5, PGAM5, EP300, CHMP2A, EHMT1, SUPT5H, ZNF263, ST13, SCMH1, NIF3L1, KLF13, ACIN1, CACNA1C, PAH, POLR3A, MUT (tumor) | PCBD1, CUL5, HSPA8, DIP2C, EP300, DCUN1D1, FXR2, RPS12, CHMP2A, TRIM5, RPS24, ZBTB25, UBA2, SCMH1, PCBD2, SYT1, PAPOLG, TIMELESS, CACNA1C, HNF1B, ZNF195 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| PCBD1, HNF4A, GORASP2, NFKB1, KIF5B, SMARCA2, CUL1, HSPA8, COPS5, APP, DIP2C, MAP7, HNF1A, CHMP2A, EHMT1, TRIM5, ST13, ZBTB25, PAPOLG, TIMELESS, PAH (tumor) | PCBD1, ZNF451, CUL4B, SMARCA2, MAP1B, NUDT18, COPS5, PGAM5, EP300, ZNF567, CHMP2A, ZBTB25, UBA2, NIF3L1, PCBD2, KLF13, DYRK1B, CACNA1C, ZNF202, HNF1B, DENND4A (normal) |
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| KIRP (tumor) | KIRP (normal) |
| PCBD1, HNF4A, DVL2, SMARCA2, HSPA8, APP, DIP2C, MAP7, HNF1A, SUPT5H, LNX1, ZNF263, ST13, WDYHV1, TIMELESS, ACIN1, THOC1, PAH, ZNF202, ZNF23, MUT (tumor) | PCBD1, RBL2, COPS5, EP300, CALCOCO1, ZNF567, RPS12, EHMT1, RPS24, ST13, WDYHV1, ZBTB25, KLF13, PAPOLG, ACIN1, PAH, ZNF202, ZNF23, ATP1A3, DENND4A, FAM135A (normal) |
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| LIHC (tumor) | LIHC (normal) |
| PCBD1, NFKB1, KIF5B, MAP1B, ZNF714, COPS5, SMARCD1, HNF1A, CHMP2A, CUL4A, LNX1, ST13, ZBTB25, SCMH1, PCBD2, PAPOLG, CACNA1C, POLR3A, MUT, DENND4A, FAM135A (tumor) | PCBD1, HNF4A, CUL4B, NFKB1, KIF5B, APP, EP300, ZNF567, SMARCD1, HNF1A, CHMP2A, RPS24, ST13, UBA2, SCMH1, PAPOLG, ACIN1, PAH, ATP1A3, FAM135A, ZNF195 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| PCBD1, KIAA0101, KIF5B, SMARCA2, MAP1B, NUDT18, COPS5, DIP2C, EP300, SMARCD1, RPS12, CHMP2A, EHMT1, RPS24, ST13, WDYHV1, NIF3L1, KLF13, CACNA1C, POLR3A, DENND4A (tumor) | PCBD1, KIF5A, CUL4B, SMARCA2, MAP1B, COPS5, EP300, RPS12, CHMP2A, EHMT1, RPS24, ST13, WDYHV1, NIF3L1, PCBD2, KLF13, CACNA1C, HNF1B, DENND4A, FAM135A, CPLX2 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| PCBD1, KIF5B, SMARCA2, NCL, MAP1B, COPS5, APP, DIP2C, EP300, SMARCD1, RPS12, CHMP2A, EHMT1, RPS24, ST13, WDYHV1, NIF3L1, CACNA1C, ATP1A3, MUT, DENND4A (tumor) | PCBD1, GORASP2, NFKB1, SMARCA2, NCL, HSPA8, COPS5, APP, EP300, SMARCD1, RPS12, CHMP2A, EHMT1, RPS24, NIF3L1, PCBD2, KLF13, ACIN1, CACNA1C, DENND4A, CPLX2 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| PCBD1, KIF5A, CUL5, GTF3C3, NFKB1, MAP1B, COPS5, LRP1B, DIP2C, EP300, CALCOCO1, RPS12, CHMP2A, EHMT1, RPS24, WDYHV1, ZBTB25, KLF13, CACNA1C, POLR3A, DENND4A (tumor) | PCBD1, KIF5A, CUL5, GTF3C3, NFKB1, KIF5B, SMARCA2, MAP1B, COPS5, DIP2C, EP300, DCUN1D1, HNF1A, CHMP2A, RPS24, WDYHV1, KLF13, DYRK1B, PAPOLG, CACNA1C, DENND4A (normal) |
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| STAD (tumor) | STAD (normal) |
| PCBD1, NFKB1, CUL3, ZNF714, COPS5, EP300, MAP7, SMARCD1, EPB41, BCAN, EHMT1, LNX1, RPS24, SAP30, ST13, DYRK1B, ACIN1, POLR3A, SEC62, FAM135A, CPLX2 (tumor) | PCBD1, ZNF451, KIAA0101, CUL4B, RBL2, NFKB1, SMARCA2, MAP1B, COPS5, PGAM5, EP300, RPS12, CHMP2A, RPS24, ST13, WDYHV1, ZBTB25, NIF3L1, KLF13, CACNA1C, DENND4A (normal) |
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| THCA (tumor) | THCA (normal) |
| PCBD1, ZNF451, CUL5, GTF3C3, CUL4B, RBL2, NFKB1, KIF5B, CUL3, COPS5, EP300, DCUN1D1, EPB41, CHMP2A, EHMT1, ZBTB25, UBA2, DYRK1B, POLR3A, DENND4A, FAM135A (tumor) | PCBD1, ZNF451, GTF3C3, CUL4B, RBL2, NFKB1, KIF5B, CUL3, NUDT18, ZNF714, COPS5, EP300, DCUN1D1, CHMP2A, EHMT1, RPS24, WDYHV1, KLF13, POLR3A, DENND4A, FAM135A (normal) |
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| TissGeneProg for PCBD1 |
| 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 PCBD1 |
| TissGeneDrug for PCBD1 |
| 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 PCBD1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0022521 | Kartagener Syndrome | 3 | BeFree |
| umls:C0751435 | Hyperphenylalaninaemia | 3 | BeFree |
| umls:C0008780 | Ciliary Motility Disorders | 2 | BeFree |
| umls:C0011847 | Diabetes | 2 | BeFree |
| umls:C0011849 | Diabetes Mellitus | 2 | BeFree |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | BeFree,GAD,LHGDN |
| umls:C0268464 | Transient hyperphenylalaninemia | 2 | BeFree |
| umls:C1849700 | Hyperphenylalaninemia with primapterinuria | 2 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0004352 | Autistic Disorder | 1 | GAD |
| umls:C0019196 | Hepatitis C | 1 | BeFree |
| umls:C0020255 | Hydrocephalus | 1 | BeFree |
| umls:C0022658 | Kidney Diseases | 1 | BeFree |
| umls:C0026764 | Multiple Myeloma | 1 | BeFree |
| umls:C0028754 | Obesity | 1 | GAD |
| umls:C0029294 | Orofaciodigital Syndromes | 1 | BeFree |
| umls:C0031485 | Phenylketonurias | 1 | BeFree |
| umls:C0040038 | Thromboembolism | 1 | BeFree |
| umls:C0086543 | Cataract | 1 | BeFree |
| umls:C0152427 | Polydactyly | 1 | BeFree |
| umls:C0235974 | Pancreatic carcinoma | 1 | BeFree |
| umls:C0271650 | Impaired glucose tolerance | 1 | BeFree |
| umls:C0278619 | Extramedullary Plasmacytoma | 1 | BeFree |
| umls:C0342276 | Maturity onset diabetes mellitus in young | 1 | BeFree |
| umls:C0346647 | Malignant neoplasm of pancreas | 1 | BeFree |
| umls:C0393593 | Dystonia Disorders | 1 | GAD |
| umls:C0398625 | Protein C Deficiency | 1 | BeFree |
| umls:C0521707 | Bilateral cataracts (disorder) | 1 | BeFree |
| umls:C0699949 | airway disease | 1 | BeFree |
| umls:C0751434 | Classical phenylketonuria | 1 | BeFree |
| umls:C1274290 | Neonatal purpura fulminans (homozygous protein C deficiency) | 1 | BeFree |
| umls:C1328504 | Hormone refractory prostate cancer | 1 | BeFree |
| umls:C1510460 | Orofaciodigital Syndrome I | 1 | BeFree |
| umls:C1835171 | Hypomagnesemia 2, renal | 1 | BeFree |
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