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Fusion gene ID: 24967 |
FusionGeneSummary for NSUN4_BMPR1B |
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Fusion gene information | Fusion gene name: NSUN4_BMPR1B | Fusion gene ID: 24967 | Hgene | Tgene | Gene symbol | NSUN4 | BMPR1B | Gene ID | 387338 | 658 |
Gene name | NOP2/Sun RNA methyltransferase family member 4 | bone morphogenetic protein receptor type 1B | |
Synonyms | SHTAP | ALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293 | |
Cytomap | 1p33 | 4q22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | 5-methylcytosine rRNA methyltransferase NSUN4NOL1/NOP2/Sun domain family member 4NOP2/Sun domain family, member 4putative methyltransferase NSUN4sperm head and tail associated protein | bone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinase | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q96CB9 | O00238 | |
Ensembl transtripts involved in fusion gene | ENST00000474844, ENST00000536062, ENST00000537428, ENST00000498008, | ENST00000515059, ENST00000440890, ENST00000264568, ENST00000394931, ENST00000502683, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
# samples | 1 | 2 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: NSUN4 [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 | NSUN4 | GO:0031167 | rRNA methylation | 23022348 |
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 |
TCGA | RV | LUAD | TCGA-44-7670-01A | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
* 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 |
Frame-shift | ENST00000474844 | ENST00000515059 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000474844 | ENST00000440890 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000474844 | ENST00000264568 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000474844 | ENST00000394931 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
5CDS-intron | ENST00000474844 | ENST00000502683 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000536062 | ENST00000515059 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000536062 | ENST00000440890 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000536062 | ENST00000264568 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000536062 | ENST00000394931 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
5CDS-intron | ENST00000536062 | ENST00000502683 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000537428 | ENST00000515059 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000537428 | ENST00000440890 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000537428 | ENST00000264568 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
Frame-shift | ENST00000537428 | ENST00000394931 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
5CDS-intron | ENST00000537428 | ENST00000502683 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
3UTR-3CDS | ENST00000498008 | ENST00000515059 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
3UTR-3CDS | ENST00000498008 | ENST00000440890 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
3UTR-3CDS | ENST00000498008 | ENST00000264568 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
3UTR-3CDS | ENST00000498008 | ENST00000394931 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
3UTR-intron | ENST00000498008 | ENST00000502683 | NSUN4 | chr1 | 46810816 | + | BMPR1B | chr4 | 96044961 | + |
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FusionProtFeatures for NSUN4_BMPR1B |
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Hgene | Tgene |
NSUN4 | BMPR1B |
Involved in mitochondrial ribosome assembly. 5-methylcytosine rRNA methyltransferase that probably is involved inmitochondrial ribosome small subunit (SSU) maturation bymethylation of mitochondrial 12S rRNA; the function is independentof MTERFD2/MTERF4 and assembled mitochondrial ribosome largesubunit (LSU). Targeted to LSU by MTERFD2/MTERF4 and probably isinvolved in a final step in ribosome biogenesis to ensure that SSUand LSU are assembled. In vitro can methylate 16S rRNA of the LSU;the methylation is enhanced by MTERFD/MTERF4.{ECO:0000269|PubMed:21531335, ECO:0000269|PubMed:23022348}. | 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 NSUN4_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 NSUN4_BMPR1B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
NSUN4 | EWSR1, MAGEA11, KBTBD7, SQSTM1, ICT1, ELAVL1, RPL13, SLC25A41, CA10, INSL3, PHKG2, YWHAH, MYEF2, FOXL2, ZNF131, MND1, SSMEM1, HSPD1, AURKAIP1, DENR, RPL18, ZNF324B, C11orf57, BPNT1, RPL30, FGF8 | BMPR1B | BMPR2, GDF5, GDF6, BMP7, BMP4, BMPR1A, BMPR1B, BMP2, SNX6, TRAF6, XIAP, TSC22D1, IGSF1, SMURF1, SMAD6, BAMBI, APP, PEG10, USP15, EVA1C, OTUB1, TPRA1 |
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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 NSUN4_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 NSUN4_BMPR1B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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 |