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Fusion gene ID: 9105 |
FusionGeneSummary for CYB5R4_CNTN6 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CYB5R4_CNTN6 | Fusion gene ID: 9105 | Hgene | Tgene | Gene symbol | CYB5R4 | CNTN6 | Gene ID | 51167 | 27255 |
Gene name | cytochrome b5 reductase 4 | contactin 6 | |
Synonyms | NCB5OR|cb5/cb5R|dJ676J13.1 | NB3 | |
Cytomap | 6q14.2 | 3p26.3 | |
Type of gene | protein-coding | protein-coding | |
Description | cytochrome b5 reductase 4N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing proteinNADPH cytochrome B5 oxidoreductasecytochrome b-type NAD(P)H oxidoreductaseflavohemoprotein b5+b5Rflavohemoprotein b5/b5R | contactin-6neural adhesion moleculeneural recognition molecule NB-3 | |
Modification date | 20180523 | 20180330 | |
UniProtAcc | Q7L1T6 | Q9UQ52 | |
Ensembl transtripts involved in fusion gene | ENST00000369681, ENST00000369679, ENST00000479164, | ENST00000446702, ENST00000539053, ENST00000350110, | |
Fusion gene scores | * DoF score | 3 X 1 X 3=9 | 3 X 3 X 3=27 |
# samples | 3 | 3 | |
** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CYB5R4 [Title/Abstract] AND CNTN6 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CYB5R4 | GO:0006091 | generation of precursor metabolites and energy | 10611283 |
Hgene | CYB5R4 | GO:0006801 | superoxide metabolic process | 10611283 |
Hgene | CYB5R4 | GO:0055114 | oxidation-reduction process | 15131110 |
Fusion gene information from three resources (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 | BRCA | TCGA-S3-A6ZF-01A | CYB5R4 | chr6 | 84574047 | + | CNTN6 | chr3 | 1189611 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 |
5CDS-5UTR | ENST00000369681 | ENST00000446702 | CYB5R4 | chr6 | 84574047 | + | CNTN6 | chr3 | 1189611 | + |
5CDS-intron | ENST00000369681 | ENST00000539053 | CYB5R4 | chr6 | 84574047 | + | CNTN6 | chr3 | 1189611 | + |
5CDS-5UTR | ENST00000369681 | ENST00000350110 | CYB5R4 | chr6 | 84574047 | + | CNTN6 | chr3 | 1189611 | + |
5CDS-5UTR | ENST00000369679 | ENST00000446702 | CYB5R4 | chr6 | 84574047 | + | CNTN6 | chr3 | 1189611 | + |
5CDS-intron | ENST00000369679 | ENST00000539053 | CYB5R4 | chr6 | 84574047 | + | CNTN6 | chr3 | 1189611 | + |
5CDS-5UTR | ENST00000369679 | ENST00000350110 | CYB5R4 | chr6 | 84574047 | + | CNTN6 | chr3 | 1189611 | + |
intron-5UTR | ENST00000479164 | ENST00000446702 | CYB5R4 | chr6 | 84574047 | + | CNTN6 | chr3 | 1189611 | + |
intron-intron | ENST00000479164 | ENST00000539053 | CYB5R4 | chr6 | 84574047 | + | CNTN6 | chr3 | 1189611 | + |
intron-5UTR | ENST00000479164 | ENST00000350110 | CYB5R4 | chr6 | 84574047 | + | CNTN6 | chr3 | 1189611 | + |
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FusionProtFeatures for CYB5R4_CNTN6 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CYB5R4 | CNTN6 |
NADH-cytochrome b5 reductase involved in endoplasmicreticulum stress response pathway. Plays a critical role inprotecting pancreatic beta-cells against oxidant stress, possiblyby protecting the cell from excess buildup of reactive oxygenspecies (ROS). Reduces a variety of substrates in vitro, such ascytochrome c, feericyanide and methemoglobin. | Contactins mediate cell surface interactions duringnervous system development. Participates in oligodendrocytesgeneration by acting as a ligand of NOTCH1. Its association withNOTCH1 promotes NOTCH1 activation through the released notchintracellular domain (NICD) and subsequent translocation to thenucleus. Involved in motor coordination (By similarity).{ECO:0000250}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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 CYB5R4_CNTN6 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (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 CYB5R4_CNTN6 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CYB5R4 | PAXIP1 | CNTN6 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CYB5R4_CNTN6 |
Drugs targeting genes involved in this fusion gene. (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 CYB5R4_CNTN6 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CNTN6 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Tgene | CNTN6 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Tgene | CNTN6 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |