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Fusion gene ID: 6528 |
FusionGeneSummary for CDK16_TIMP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDK16_TIMP1 | Fusion gene ID: 6528 | Hgene | Tgene | Gene symbol | CDK16 | TIMP1 | Gene ID | 5127 | 7076 |
| Gene name | cyclin dependent kinase 16 | TIMP metallopeptidase inhibitor 1 | |
| Synonyms | PCTAIRE|PCTAIRE1|PCTGAIRE|PCTK1 | CLGI|EPA|EPO|HCI|TIMP|TIMP-1 | |
| Cytomap | Xp11.3 | Xp11.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclin-dependent kinase 16PCTAIRE-motif protein kinase 1cell division protein kinase 16serine/threonine-protein kinase PCTAIRE-1testis secretory sperm-binding protein Li 224n | metalloproteinase inhibitor 1collagenase inhibitorerythroid potentiating activityfibroblast collagenase inhibitortissue inhibitor of metalloproteinases 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q00536 | P01033 | |
| Ensembl transtripts involved in fusion gene | ENST00000517997, ENST00000457458, ENST00000357227, ENST00000518022, ENST00000276052, | ENST00000218388, ENST00000377018, ENST00000456754, ENST00000377017, | |
| Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CDK16 [Title/Abstract] AND TIMP1 [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 | TIMP1 | GO:0008284 | positive regulation of cell proliferation | 3839290 |
| Tgene | TIMP1 | GO:0010951 | negative regulation of endopeptidase activity | 3903517 |
| Tgene | TIMP1 | GO:0043086 | negative regulation of catalytic activity | 3903517 |
| Tgene | TIMP1 | GO:0051045 | negative regulation of membrane protein ectodomain proteolysis | 12714508 |
| Tgene | TIMP1 | GO:1905049 | negative regulation of metallopeptidase activity | 9573338 |
| 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 | LD | UCS | TCGA-N5-A4RD-01A | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| * 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 |
| intron-3CDS | ENST00000517997 | ENST00000218388 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000517997 | ENST00000377018 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000517997 | ENST00000456754 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000517997 | ENST00000377017 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-3CDS | ENST00000457458 | ENST00000218388 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000457458 | ENST00000377018 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000457458 | ENST00000456754 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000457458 | ENST00000377017 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| 5UTR-3CDS | ENST00000357227 | ENST00000218388 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| 5UTR-5UTR | ENST00000357227 | ENST00000377018 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| 5UTR-5UTR | ENST00000357227 | ENST00000456754 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| 5UTR-5UTR | ENST00000357227 | ENST00000377017 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-3CDS | ENST00000518022 | ENST00000218388 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000518022 | ENST00000377018 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000518022 | ENST00000456754 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000518022 | ENST00000377017 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-3CDS | ENST00000276052 | ENST00000218388 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000276052 | ENST00000377018 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000276052 | ENST00000456754 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
| intron-5UTR | ENST00000276052 | ENST00000377017 | CDK16 | chrX | 47078504 | + | TIMP1 | chrX | 47444604 | + |
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FusionProtFeatures for CDK16_TIMP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDK16 | TIMP1 |
| Protein kinase that plays a role in vesicle-mediatedtransport processes and exocytosis. Regulates GH1 release by brainneurons. Phosphorylates NSF, and thereby regulates NSFoligomerization. Required for normal spermatogenesis. Regulatesneuron differentiation and dendrite development (By similarity).Plays a role in the regulation of insulin secretion in response tochanges in blood glucose levels. Can phosphorylate CCNY at 'Ser-336' (in vitro). {ECO:0000250, ECO:0000269|PubMed:22184064,ECO:0000269|PubMed:22796189, ECO:0000269|PubMed:22798068}. | Metalloproteinase inhibitor that functions by formingone to one complexes with target metalloproteinases, such ascollagenases, and irreversibly inactivates them by binding totheir catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7,MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act onMMP14. Also functions as a growth factor that regulates celldifferentiation, migration and cell death and activates cellularsignaling cascades via CD63 and ITGB1. Plays a role in integrinsignaling. Mediates erythropoiesis in vitro; but, unlike IL3, itis species-specific, stimulating the growth and differentiation ofonly human and murine erythroid progenitors.{ECO:0000269|PubMed:1420137, ECO:0000269|PubMed:16917503,ECO:0000269|PubMed:17050530, ECO:0000269|PubMed:1730286,ECO:0000269|PubMed:20545310, ECO:0000269|PubMed:22427646,ECO:0000269|PubMed:24635319, ECO:0000269|PubMed:3839290,ECO:0000269|PubMed:3903517, ECO:0000269|PubMed:8541540,ECO:0000269|PubMed:8576151, ECO:0000269|PubMed:9065415}. |
| 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 CDK16_TIMP1 |
| 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 CDK16_TIMP1 |
| 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 |
| CDK16 | BRCA1, YWHAG, CDK5R1, CDK5, S100A10, YWHAZ, YWHAH, YWHAQ, SH3KBP1, APP, LMNA, CSNK2A2, PPP2CB, PPP2R2A, CSNK2B, YWHAB, ZBTB14, APPBP2, ATRIP, CCNYL1, PKM, YWHAE, CDK8, CDK17, CDK18, PPP2R2D, ICK, SNX27, MYC, SCLT1, XPO1, CDK2, ISG20L2, NUP54, CCNY, CSNK2A1, GTF2F1, MCMBP, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, DENND1A, SH3PXD2A, SRGAP2, EIF4E2, SIPA1L1, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, SRSF12, SYDE1, AGAP1, CDC25B, FAM110B, USP21, ANKRD34A, FAM53C, FAM110A, TBC1D25, PPM1H, MAPKAP1, MAST3, RTKN, DENND4C, HDAC4, RAB3IP, TIAM1, PHLDB2, NADK, GAB2, KIAA1804, NF1, CBY1, RASAL2, MELK, CGN, PLEKHA7, MLLT4, DEPDC1B, SH3BP4, KIF1C, CAMSAP2, PLEKHA5, EDC3 | TIMP1 | RECQL5, ECH1, EEF1B2, MMP3, MMP1, MYOC, ZBTB16, FBXO6, MMP9, MMP10, IGFBP1, FGFR2, MMP14 |
| - 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 CDK16_TIMP1 |
| 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 CDK16_TIMP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CDK16 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Tgene | TIMP1 | C0023893 | Liver Cirrhosis, Experimental | 5 | CTD_human |
| Tgene | TIMP1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
| Tgene | TIMP1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Tgene | TIMP1 | C0006663 | Calcinosis | 1 | CTD_human |
| Tgene | TIMP1 | C0008311 | Cholangitis | 1 | CTD_human |
| Tgene | TIMP1 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Tgene | TIMP1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Tgene | TIMP1 | C0017661 | IGA Glomerulonephritis | 1 | CTD_human |
| Tgene | TIMP1 | C0018799 | Heart Diseases | 1 | CTD_human |
| Tgene | TIMP1 | C0018824 | Heart valve disease | 1 | CTD_human |
| Tgene | TIMP1 | C0019202 | Hepatolenticular Degeneration | 1 | CTD_human |
| Tgene | TIMP1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | TIMP1 | C0021368 | Inflammation | 1 | CTD_human |
| Tgene | TIMP1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
| Tgene | TIMP1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | TIMP1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
| Tgene | TIMP1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Tgene | TIMP1 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Tgene | TIMP1 | C0042345 | Varicosity | 1 | CTD_human |
| Tgene | TIMP1 | C0042373 | Vascular Diseases | 1 | CTD_human |
| Tgene | TIMP1 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
| Tgene | TIMP1 | C1720887 | Female Urogenital Diseases | 1 | CTD_human |
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