|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 5638 |
FusionGeneSummary for CATSPERB_FBLN5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CATSPERB_FBLN5 | Fusion gene ID: 5638 | Hgene | Tgene | Gene symbol | CATSPERB | FBLN5 | Gene ID | 79820 | 10516 |
| Gene name | cation channel sperm associated auxiliary subunit beta | fibulin 5 | |
| Synonyms | C14orf161|CatSper(beta) | ADCL2|ARCL1A|ARMD3|DANCE|EVEC|FIBL-5|HNARMD|UP50 | |
| Cytomap | 14q32.12 | 14q32.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cation channel sperm-associated protein subunit betacatSper-betacation channel, sperm associated betacatsper channel auxiliary subunit beta | fibulin-5developmental arteries and neural crest EGF-like proteintestis tissue sperm-binding protein Li 75nurine p50 protein | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9H7T0 | Q9UBX5 | |
| Ensembl transtripts involved in fusion gene | ENST00000256343, | ENST00000267620, ENST00000342058, ENST00000556154, ENST00000556961, | |
| Fusion gene scores | * DoF score | 6 X 7 X 4=168 | 6 X 3 X 7=126 |
| # samples | 10 | 8 | |
| ** MAII score | log2(10/168*10)=-0.748461233004036 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/126*10)=-0.655351828612554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CATSPERB [Title/Abstract] AND FBLN5 [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 |
| Tgene | FBLN5 | GO:0046903 | secretion | 20599547 |
| 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-EW-A1P1-01A | CATSPERB | chr14 | 92174485 | - | FBLN5 | chr14 | 92361416 | - |
| * 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 |
| Frame-shift | ENST00000256343 | ENST00000267620 | CATSPERB | chr14 | 92174485 | - | FBLN5 | chr14 | 92361416 | - |
| Frame-shift | ENST00000256343 | ENST00000342058 | CATSPERB | chr14 | 92174485 | - | FBLN5 | chr14 | 92361416 | - |
| Frame-shift | ENST00000256343 | ENST00000556154 | CATSPERB | chr14 | 92174485 | - | FBLN5 | chr14 | 92361416 | - |
| 5CDS-intron | ENST00000256343 | ENST00000556961 | CATSPERB | chr14 | 92174485 | - | FBLN5 | chr14 | 92361416 | - |
Top |
FusionProtFeatures for CATSPERB_FBLN5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CATSPERB | FBLN5 |
| Probably involved in sperm cell hyperactivation via itsassociation with CATSPER1. Sperm cell hyperactivation is neededfor sperm motility which is essential late in the preparation ofsperm for fertilization. {ECO:0000250|UniProtKB:A2RTF1}. | Essential for elastic fiber formation, is involved inthe assembly of continuous elastin (ELN) polymer and promotes theinteraction of microfibrils and ELN (PubMed:18185537). Stabilizesand organizes elastic fibers in the skin, lung and vasculature (Bysimilarity). Promotes adhesion of endothelial cells throughinteraction of integrins and the RGD motif. Vascular ligand forintegrin receptors which may play a role in vascular developmentand remodeling (PubMed:10428823). May act as an adapter thatmediates the interaction between FBN1 and ELN (PubMed:17255108).{ECO:0000250|UniProtKB:Q9WVH9, ECO:0000269|PubMed:10428823,ECO:0000269|PubMed:17255108, ECO:0000269|PubMed:18185537}. |
| 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 |
Top |
FusionGeneSequence for CATSPERB_FBLN5 |
| 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). |
Top |
FusionGenePPI for CATSPERB_FBLN5 |
| 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 |
| CATSPERB | FBLN5 | LOXL1, TOP3B, ATN1, GFI1B, PAXIP1, CEP57, LPA, DNAJC10, ZNF408, TKTL2, ZFP41, ZNF331, ZNF550, KIAA1683 |
| - 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 |
Top |
RelatedDrugs for CATSPERB_FBLN5 |
| 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 |
Top |
RelatedDiseases for CATSPERB_FBLN5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FBLN5 | C0268351 | Cutis Laxa, Autosomal Recessive, Type I | 7 | CTD_human;UNIPROT |
| Tgene | FBLN5 | C4225406 | NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION | 6 | ORPHANET;UNIPROT |
| Tgene | FBLN5 | C0013990 | Pathological accumulation of air in tissues | 1 | CTD_human |
| Tgene | FBLN5 | C0018801 | Heart failure | 1 | CTD_human |
| Tgene | FBLN5 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
| Tgene | FBLN5 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | FBLN5 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Tgene | FBLN5 | C0035229 | Respiratory Insufficiency | 1 | CTD_human |
| Tgene | FBLN5 | C0035243 | Respiratory Tract Infections | 1 | CTD_human |
| Tgene | FBLN5 | C0042373 | Vascular Diseases | 1 | CTD_human |
| Tgene | FBLN5 | C2931134 | Cutis laxa, recessive | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|