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| TissGeneSummary for BMPR1B |
Gene summary |
| Basic gene information | Gene symbol | BMPR1B |
| Gene name | bone morphogenetic protein receptor, type IB | |
| Synonyms | ALK-6|ALK6|CDw293 | |
| Cytomap | UCSC genome browser: 4q22-q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001203.2, NM_001256792.1,NM_001256793.1,NM_001256794.1, | |
| Description | BMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor type-1Bserine/threonine receptor kinase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603248 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000138696 | ||
| HPRD : 04457 | ||
| Vega : OTTHUMG00000130991 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BMPR1B | |
| BioGPS: 658 | ||
| Pathway | NCI Pathway Interaction Database: BMPR1B | |
| KEGG: BMPR1B | ||
| REACTOME: BMPR1B | ||
| Pathway Commons: BMPR1B | ||
| Context | iHOP: BMPR1B | |
| ligand binding site mutation search in PubMed: BMPR1B | ||
| UCL Cancer Institute: BMPR1B | ||
| 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) | Prostate | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | PRAD | |
| Reference showing the relevant tissue of BMPR1B | ||
| Description by TissGene annotations | Protective TissGene in RFS Cancer gene Fused withTSGene Fused withOncogene | |
| * 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:0006468 | protein phosphorylation | 12065756 | GO:0030509 | BMP signaling pathway | 18436533 | GO:0006468 | protein phosphorylation | 12065756 | GO:0030509 | BMP signaling pathway | 18436533 |
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| TissGeneExp for BMPR1B |
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 | -0.033033394 | -1.634468278 | 1.601434884 | 1.18E-06 | 8.88E-06 |
| BRCA | 2.489476888 | -0.21493013 | 2.704407018 | 1.49E-12 | 6.61E-12 |
| LIHC | -4.768355533 | -2.055551533 | -2.712804 | 3.53E-11 | 4.96E-10 |
| THCA | -4.84015933 | -2.850932211 | -1.989227119 | 4.25E-14 | 4.61E-13 |
| KIRP | -2.371247783 | 2.236558467 | -4.60780625 | 2.71E-10 | 2.88E-09 |
| KIRC | -3.0703707 | 2.628047356 | -5.698418056 | 5.82E-35 | 1.53E-33 |
| KICH | 4.061592467 | 2.530476467 | 1.531116 | 0.0108 | 0.019336474 |
| LUSC | -1.044940553 | -0.035144475 | -1.009796078 | 0.0013 | 0.002374371 |
| LUAD | -0.924767395 | 0.218992949 | -1.143760345 | 8.90E-05 | 0.000227366 |
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| TissGene-miRNA for BMPR1B |
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 |
| ACC | hsa-miR-506-3p | MIMAT0002878 | 0.021 | -0.28 | 78 |
| ACC | hsa-miR-506-3p | MIMAT0002878 | 0.021 | -0.28 | 78 |
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| TissGeneMut for BMPR1B |
| TissGeneSNV for BMPR1B |
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.K498N | STAD | 1 |
| p.A411T | SKCM | 1 |
| p.P326L | STAD | 1 |
| p.A328T | LIHC | 1 |
| p.S402G | UCEC | 1 |
| p.W474C | ACC | 1 |
| p.L94F | ESCA | 1 |
| p.E167Q | HNSC | 1 |
| p.T309A | LIHC | 1 |
| p.A411D | SKCM | 1 |
| p.S497F | SKCM | 1 |
| p.P356L | STAD | 1 |
| p.S446* | CESC | 1 |
| p.R376C | STAD | 1 |
| p.R243* | LUAD | 1 |
| p.L351M | UCEC | 1 |
| p.Y395D | ESCA | 1 |
| p.S416* | CESC | 1 |
| p.A359V | STAD | 1 |
| p.A484T | LUSC | 1 |
| p.S293P | BRCA | 1 |
| p.R82P | COAD | 1 |
| p.Q249* | BLCA | 1 |
| p.S321R | PRAD | 1 |
| p.C81F | KIRC | 1 |
| p.G100V | THYM | 1 |
| p.Y245S | ESCA | 1 |
| p.S62C | LUAD | 1 |
| p.K488R | STAD | 1 |
| p.R284G | ESCA | 1 |
| p.G70V | THYM | 1 |
| p.G268E | SKCM | 1 |
| p.A329V | STAD | 1 |
| p.P87S | SKCM | 1 |
| p.R224C | COAD | 1 |
| p.W504C | ACC | 1 |
| p.K501E | COAD | 1 |
| p.T279I | UCEC | 1 |
| p.D47Y | THYM | 1 |
| p.G106C | STAD | 1 |
| p.I142L | SKCM | 1 |
| p.K468N | STAD | 1 |
| p.G211E | BLCA | 1 |
| p.I419M | UCEC | 1 |
| p.R406C | STAD | 1 |
| p.G76C | STAD | 1 |
| p.T279A | LIHC | 1 |
| p.L469I | LUAD | 1 |
| p.S62C | HNSC | 1 |
| p.P65S | BRCA | 1 |
| p.T102M | BLCA | 1 |
| p.Y425D | ESCA | 1 |
| p.V59I | KIRP | 1 |
| p.Q184* | BLCA | 1 |
| p.A522S | ESCA | 1 |
| p.Y215S | ESCA | 1 |
| p.P171T | LUAD | 1 |
| p.C111F | KIRC | 1 |
| p.E226* | UCEC | 1 |
| p.S466C | CESC | 1 |
| p.S131F | BLCA | 1 |
| p.R331Q | LUAD | 1 |
| p.K342I | UCEC | 1 |
| p.K518R | STAD | 1 |
| p.W219C | LUAD | 1 |
| p.Y437H | SKCM | 1 |
| p.R82W | LUAD | 1 |
| p.V29I | KIRP | 1 |
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| TissGeneCNV for BMPR1B |
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 BMPR1B |
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 | BG990101 | BMPR1B-MRPL39 | chr4:95958790 | chr21:26960826 | |
| Chimerdb3.0 | ChiTaRs | NA | DQ207770 | RUNX1-BMPR1B | chr21:36286088 | chr4:95732914 | |
| Chimerdb3.0 | FusionScan | PRAD | TCGA-SU-A7E7-01A | BMPR1B-ETV1 | 5'UTR-5'UTR | chr4:95679219 | chr7:14028764 |
| Chimerdb3.0 | FusionScan | BRCA | TCGA-A2-A0ET-01A | BMPR1B-MCC | 5'UTR-CDS | chr4:95917285 | chr5:112406931 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-A2-A0ET-01A | BMPR1B-MCC | 5UTR-CDS | Chr4:95917285 | Chr5:112406931 |
| TCGAfusionPortal | PRADA | KIRC | TCGA-B0-4698-01A | BMPR1B-DDAH1 | Out-of-frame | Chr4:96025718 | Chr1:85824530 |
| TCGAfusionPortal | PRADA | PRAD | TCGA-SU-A7E7-01A | BMPR1B-ETV1 | 5UTR-5UTR | Chr4:95679219 | Chr7:14028764 |
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| TissGeneNet for BMPR1B |
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) |
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| TissGeneProg for BMPR1B |
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 BMPR1B |
| TissGeneDrug for BMPR1B |
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 BMPR1B |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C1832702 | BRACHYDACTYLY, TYPE A2 | 6 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0033578 | Prostatic Neoplasms | 2 | CTD_human,LHGDN |
| umls:C0039075 | Syndactyly | 2 | BeFree |
| umls:C0152171 | Idiopathic pulmonary hypertension | 2 | BeFree |
| umls:C0343284 | Chondrodysplasia | 2 | BeFree |
| umls:C3203102 | Idiopathic pulmonary arterial hypertension | 2 | BeFree |
| umls:C0001973 | Alcoholic Intoxication, Chronic | 1 | GAD |
| umls:C0004096 | Asthma | 1 | LHGDN |
| umls:C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0007113 | Rectal Carcinoma | 1 | BeFree |
| umls:C0015393 | Eye Abnormalities | 1 | CTD_human |
| umls:C0017636 | Glioblastoma | 1 | BeFree |
| umls:C0018206 | granulosa cell tumor | 1 | BeFree |
| umls:C0020538 | Hypertensive disease | 1 | GAD |
| umls:C0020542 | Pulmonary Hypertension | 1 | LHGDN |
| umls:C0029456 | Osteoporosis | 1 | BeFree |
| umls:C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| umls:C0206762 | Limb Deformities, Congenital | 1 | BeFree |
| umls:C0345893 | Juvenile polyposis syndrome | 1 | GAD |
| umls:C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C1263846 | Attention deficit hyperactivity disorder | 1 | GAD |
| umls:C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | BeFree |
| umls:C1836182 | Chondrodysplasia, acromesomelic, with genital anomalies | 1 | CLINVAR,CTD_human |
| umls:C1861385 | SYMPHALANGISM, PROXIMAL | 1 | BeFree |
| umls:C1862103 | Brachydactyly type C | 1 | BeFree,ORPHANET |
| umls:C0265260 | Chondrodysplasia, Grebe type | 0 | ORPHANET |
| umls:C1300268 | Brachydactyly syndrome type C | 0 | ORPHANET |
| umls:C1856738 | Fibular hypoplasia and complex brachydactyly | 0 | ORPHANET |