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Fusion gene ID: 5901 |
FusionGeneSummary for CCDC73_CAV1 |
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Fusion gene information | Fusion gene name: CCDC73_CAV1 | Fusion gene ID: 5901 | Hgene | Tgene | Gene symbol | CCDC73 | CAV1 | Gene ID | 493860 | 857 |
Gene name | coiled-coil domain containing 73 | caveolin 1 | |
Synonyms | NY-SAR-79 | BSCL3|CGL3|LCCNS|MSTP085|PPH3|VIP21 | |
Cytomap | 11p13 | 7q31.2 | |
Type of gene | protein-coding | protein-coding | |
Description | coiled-coil domain-containing protein 73sarcoma antigen NY-SAR-79 | caveolin-1caveolin 1, caveolae protein, 22kDacell growth-inhibiting protein 32 | |
Modification date | 20180519 | 20180527 | |
UniProtAcc | Q6ZRK6 | Q03135 | |
Ensembl transtripts involved in fusion gene | ENST00000335185, ENST00000534415, ENST00000531481, | ENST00000341049, ENST00000393470, ENST00000405348, ENST00000393468, ENST00000393467, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 6 X 4 X 6=144 |
# samples | 3 | 8 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/144*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CCDC73 [Title/Abstract] AND CAV1 [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 | CAV1 | GO:0009617 | response to bacterium | 24625804 |
Tgene | CAV1 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 25893292 |
Tgene | CAV1 | GO:0031295 | T cell costimulation | 17287217 |
Tgene | CAV1 | GO:0031623 | receptor internalization | 25893292 |
Tgene | CAV1 | GO:0032091 | negative regulation of protein binding | 16890161 |
Tgene | CAV1 | GO:0032570 | response to progesterone | 12388746 |
Tgene | CAV1 | GO:0033137 | negative regulation of peptidyl-serine phosphorylation | 18081315 |
Tgene | CAV1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 18081315 |
Tgene | CAV1 | GO:0043627 | response to estrogen | 12388746 |
Tgene | CAV1 | GO:0051480 | regulation of cytosolic calcium ion concentration | 19052258 |
Tgene | CAV1 | GO:0072584 | caveolin-mediated endocytosis | 19931615 |
Tgene | CAV1 | GO:1900027 | regulation of ruffle assembly | 24625804 |
Tgene | CAV1 | GO:2000535 | regulation of entry of bacterium into host cell | 24625804 |
![]() (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 | LIHC | TCGA-DD-A73F-01A | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
TCGA | LD | LIHC | TCGA-DD-A73F-01A | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
* 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-3CDS | ENST00000335185 | ENST00000341049 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000335185 | ENST00000393470 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000335185 | ENST00000405348 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000335185 | ENST00000393468 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000335185 | ENST00000393467 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000534415 | ENST00000341049 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000534415 | ENST00000393470 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000534415 | ENST00000405348 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000534415 | ENST00000393468 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000534415 | ENST00000393467 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000531481 | ENST00000341049 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000531481 | ENST00000393470 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000531481 | ENST00000405348 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000531481 | ENST00000393468 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000531481 | ENST00000393467 | CCDC73 | chr11 | 32815895 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000335185 | ENST00000341049 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000335185 | ENST00000393470 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000335185 | ENST00000405348 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000335185 | ENST00000393468 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000335185 | ENST00000393467 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000534415 | ENST00000341049 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000534415 | ENST00000393470 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000534415 | ENST00000405348 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000534415 | ENST00000393468 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
5UTR-3CDS | ENST00000534415 | ENST00000393467 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000531481 | ENST00000341049 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000531481 | ENST00000393470 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000531481 | ENST00000405348 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000531481 | ENST00000393468 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
intron-3CDS | ENST00000531481 | ENST00000393467 | CCDC73 | chr11 | 32816159 | - | CAV1 | chr7 | 116199000 | + |
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FusionProtFeatures for CCDC73_CAV1 |
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Hgene | Tgene |
CCDC73 | CAV1 |
May act as a scaffolding protein within caveolarmembranes. Interacts directly with G-protein alpha subunits andcan functionally regulate their activity (By similarity). Involvedin the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cellproliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and mayregulate CTNNB1-mediated signaling through the Wnt pathway.Negatively regulates TGFB1-mediated activation of SMAD2/3 bymediating the internalization of TGFBR1 from membrane raftsleading to its subsequent degradation (PubMed:25893292). Mediatesthe recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae(PubMed:19262564). {ECO:0000250|UniProtKB:P49817,ECO:0000269|PubMed:11751885, ECO:0000269|PubMed:17287217,ECO:0000269|PubMed:19262564, ECO:0000269|PubMed:25893292}. |
![]() * 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 CCDC73_CAV1 |
![]() (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 CCDC73_CAV1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CCDC73 | GAN | CAV1 | AR, SCP2, PLD2, AQP3, EDNRB, NOS3, CAV2, NOS2, BTK, BMX, GRK5, GRK1, ADRBK1, TRAF2, TRADD, TNFRSF1B, TRPC1, NTRK1, NGFR, NEU3, TSC2, DAG1, APP, INSR, PRKACA, PTPN1, PTPN6, PTPN11, PTEN, PTPRF, S1PR1, FLOT1, FLOT2, ESR1, PTGS2, PDGFRB, PDGFRA, RCVRN, CSK, EGFR, SRC, TGFBR1, SMAD2, GJA1, GJB2, GJB1, TNFRSF1A, TNF, NKD2, RAC1, RHOA, RHOC, MAPK3, MAPK1, PLAA, PDIA3, CD44, CXCR4, ITCH, TOLLIP, IRAK1, FYN, KCNA3, KCNA5, PPP1CA, PPP2R1A, PPP2R1B, PPP2CA, PPP2R4, SNCA, PTRF, ACIN1, VDAC1, SQSTM1, VCP, UBXN6, KCNN3, MCL1, ITPR3, PTCH1, TENC1, DLC1, ID1, MLC1, NF1, MALL, KCNMA1, BMPR2, BMPR1A, AXIN1, LRP6, FAS, BID, HSP90AA1, ACTB, F2R, PROCR, GLIPR2, KDR, ATP4A, DERL1, VIMP, UFD1L, PTGS1, PTGIS, RPA3, RPA2, RPA1, ATG5, ATG12, ABCC1, TFRC, MOV10, NXF1, PPARG, LATS1, VAV2, KRT8, PLCG1, CTNNB1, HDAC6, AGTR1, LPAR6, P2RY12, FNDC4, FAF2, FAP, TMEM17, TMEM216, CLTC, DBN1, RAB2A, RAB5C, RAB7A, DYNLL1, VAPA, FGFR1OP2, GOLT1B, LIMA1, TMEM63B, YIPF5, MMGT1, MBOAT1, ANKRD13A, ADCY6, ADCY5, TLR4, YIPF3, SMPD3, SLC22A9, CAV3, TACR1, HK1, LPAR4, SLC5A8, CHRM3, SLC37A3, HTR2C, TMEM184A, SLC6A15, NR3C2, UBC, MAP1LC3A |
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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 CCDC73_CAV1 |
![]() (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 CCDC73_CAV1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CAV1 | C1458155 | Mammary Neoplasms | 4 | CTD_human |
Tgene | CAV1 | C0004238 | Atrial Fibrillation | 2 | CTD_human |
Tgene | CAV1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Tgene | CAV1 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Tgene | CAV1 | C0017612 | Glaucoma, Open-Angle | 1 | CTD_human |
Tgene | CAV1 | C0018800 | Cardiomegaly | 1 | CTD_human |
Tgene | CAV1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | CAV1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | CAV1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Tgene | CAV1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | CAV1 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
Tgene | CAV1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | CAV1 | C0043094 | Weight Gain | 1 | CTD_human |
Tgene | CAV1 | C0271694 | Familial partial lipodystrophy | 1 | CTD_human |
Tgene | CAV1 | C0919267 | ovarian neoplasm | 1 | CTD_human |