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Fusion gene ID: 32393 |
FusionGeneSummary for RUNX1_BMPR1B |
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Fusion gene information | Fusion gene name: RUNX1_BMPR1B | Fusion gene ID: 32393 | Hgene | Tgene | Gene symbol | RUNX1 | BMPR1B | Gene ID | 861 | 658 |
Gene name | runt related transcription factor 1 | bone morphogenetic protein receptor type 1B | |
Synonyms | AML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha | ALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293 | |
Cytomap | 21q22.12 | 4q22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | runt-related transcription factor 1AML1-EVI-1 fusion proteinPEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2 | bone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinase | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | Q01196 | O00238 | |
Ensembl transtripts involved in fusion gene | ENST00000344691, ENST00000325074, ENST00000437180, ENST00000300305, ENST00000399240, ENST00000486278, ENST00000494829, ENST00000358356, | ENST00000515059, ENST00000440890, ENST00000264568, ENST00000394931, ENST00000502683, | |
Fusion gene scores | * DoF score | 23 X 25 X 7=4025 | 2 X 2 X 2=8 |
# samples | 53 | 2 | |
** MAII score | log2(53/4025*10)=-2.92492451843878 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: RUNX1 [Title/Abstract] AND BMPR1B [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | RUNX1 | GO:0030097 | hemopoiesis | 21873977 |
Hgene | RUNX1 | GO:0045893 | positive regulation of transcription, DNA-templated | 10207087|14970218 |
Hgene | RUNX1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9199349|10207087|14970218|21873977 |
Tgene | BMPR1B | GO:0006468 | protein phosphorylation | 12065756 |
Tgene | BMPR1B | GO:0030509 | BMP signaling pathway | 18436533 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | DQ207770 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000344691 | ENST00000515059 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000344691 | ENST00000440890 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000344691 | ENST00000264568 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000344691 | ENST00000394931 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000344691 | ENST00000502683 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000325074 | ENST00000515059 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000325074 | ENST00000440890 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000325074 | ENST00000264568 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000325074 | ENST00000394931 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000325074 | ENST00000502683 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000437180 | ENST00000515059 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000437180 | ENST00000440890 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000437180 | ENST00000264568 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000437180 | ENST00000394931 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000437180 | ENST00000502683 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000300305 | ENST00000515059 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000300305 | ENST00000440890 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000300305 | ENST00000264568 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000300305 | ENST00000394931 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000300305 | ENST00000502683 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000399240 | ENST00000515059 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000399240 | ENST00000440890 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000399240 | ENST00000264568 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000399240 | ENST00000394931 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000399240 | ENST00000502683 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000486278 | ENST00000515059 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000486278 | ENST00000440890 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000486278 | ENST00000264568 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000486278 | ENST00000394931 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000486278 | ENST00000502683 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000494829 | ENST00000515059 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000494829 | ENST00000440890 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000494829 | ENST00000264568 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000494829 | ENST00000394931 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000494829 | ENST00000502683 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000358356 | ENST00000515059 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000358356 | ENST00000440890 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000358356 | ENST00000264568 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000358356 | ENST00000394931 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
intron-intron | ENST00000358356 | ENST00000502683 | RUNX1 | chr21 | 36285941 | - | BMPR1B | chr4 | 95732914 | + |
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FusionProtFeatures for RUNX1_BMPR1B |
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Hgene | Tgene |
RUNX1 | BMPR1B |
On ligand binding, forms a receptor complex consistingof two type II and two type I transmembrane serine/threoninekinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMADtranscriptional regulators. Receptor for BMP7/OP-1 and GDF5.Positively regulates chondrocyte differentiation through GDF5interaction. {ECO:0000250|UniProtKB:P36898}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RUNX1_BMPR1B |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for RUNX1_BMPR1B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RUNX1_BMPR1B |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RUNX1_BMPR1B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RUNX1 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human;HPO |
Hgene | RUNX1 | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 2 | CTD_human |
Hgene | RUNX1 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
Hgene | RUNX1 | C0017636 | Glioblastoma | 1 | CTD_human |
Hgene | RUNX1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | RUNX1 | C0349639 | Juvenile Myelomonocytic Leukemia | 1 | CTD_human |
Hgene | RUNX1 | C1832388 | Platelet Disorder, Familial, with Associated Myeloid Malignancy | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | RUNX1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Tgene | BMPR1B | C1832702 | BRACHYDACTYLY, TYPE A2 | 2 | CTD_human;HPO;ORPHANET;UNIPROT |
Tgene | BMPR1B | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
Tgene | BMPR1B | C0015393 | Eye Abnormalities | 1 | CTD_human |
Tgene | BMPR1B | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | BMPR1B | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | BMPR1B | C1836182 | Chondrodysplasia, acromesomelic, with genital anomalies | 1 | CTD_human |
Tgene | BMPR1B | C4225183 | BRACHYDACTYLY, TYPE A1, D | 1 | UNIPROT |
Tgene | BMPR1B | C4225404 | ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE | 1 | UNIPROT |