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Fusion gene ID: 36837 |
FusionGeneSummary for SV2C_NMU |
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Fusion gene information | Fusion gene name: SV2C_NMU | Fusion gene ID: 36837 | Hgene | Tgene | Gene symbol | SV2C | NMU | Gene ID | 22987 | 10874 |
Gene name | synaptic vesicle glycoprotein 2C | neuromedin U | |
Synonyms | - | - | |
Cytomap | 5q13.3 | 4q12 | |
Type of gene | protein-coding | protein-coding | |
Description | synaptic vesicle glycoprotein 2Csynaptic vesicle protein 2C | neuromedin-Uneuromedin U precursor-related peptide/neuromedin U preproproteinprepro-NMU | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q496J9 | P48645 | |
Ensembl transtripts involved in fusion gene | ENST00000502798, ENST00000322285, | ENST00000511469, ENST00000264218, ENST00000505262, ENST00000507338, ENST00000515325, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 4 X 6=120 |
# samples | 1 | 6 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SV2C [Title/Abstract] AND NMU [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 |
Tgene | NMU | GO:0007218 | neuropeptide signaling pathway | 10894543|11027493 |
![]() (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 | LD | READ | TCGA-F5-6863-01A | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
* 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 | ENST00000502798 | ENST00000511469 | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
Frame-shift | ENST00000502798 | ENST00000264218 | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
Frame-shift | ENST00000502798 | ENST00000505262 | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
Frame-shift | ENST00000502798 | ENST00000507338 | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
5CDS-5UTR | ENST00000502798 | ENST00000515325 | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
Frame-shift | ENST00000322285 | ENST00000511469 | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
Frame-shift | ENST00000322285 | ENST00000264218 | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
Frame-shift | ENST00000322285 | ENST00000505262 | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
Frame-shift | ENST00000322285 | ENST00000507338 | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
5CDS-5UTR | ENST00000322285 | ENST00000515325 | SV2C | chr5 | 75505712 | + | NMU | chr4 | 56475346 | - |
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FusionProtFeatures for SV2C_NMU |
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Hgene | Tgene |
SV2C | NMU |
Plays a role in the control of regulated secretion inneural and endocrine cells, enhancing selectively low-frequencyneurotransmission. Positively regulates vesicle fusion bymaintaining the readily releasable pool of secretory vesicles.{ECO:0000250|UniProtKB:Q9Z2I6}. (Microbial infection) Receptor for the botuliniumneurotoxin type A/BOTA. {ECO:0000269|PubMed:27294781,ECO:0000269|PubMed:28252640}. | Stimulates muscle contractions of specific regions ofthe gastrointestinal tract. In humans, NmU stimulates contractionsof the ileum and urinary bladder. |
![]() * 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 SV2C_NMU |
![]() (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 SV2C_NMU |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SV2C | SYT1, ABCC10, ABHD17B, EXTL3, VANGL2, UBE4A, UFD1L | NMU | NMUR2, NMUR1, SNTA1, KRTAP5-9, NOTCH2NL, HLA-DPA1, IL20RB, B3GALNT1, GINM1, TENC1, MANSC1, MGAT4C, PCDHA4, PCDH20, ENTPD7, F7 |
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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 SV2C_NMU |
![]() (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 SV2C_NMU |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |