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Fusion gene ID: 23783 |
FusionGeneSummary for NDRG1_C9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NDRG1_C9 | Fusion gene ID: 23783 | Hgene | Tgene | Gene symbol | NDRG1 | C9 | Gene ID | 10397 | 1645 |
| Gene name | N-myc downstream regulated 1 | aldo-keto reductase family 1 member C1 | |
| Synonyms | CAP43|CMT4D|DRG-1|DRG1|GC4|HMSNL|NDR1|NMSL|PROXY1|RIT42|RTP|TARG1|TDD5 | 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBAB | |
| Cytomap | 8q24.22 | 10p15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein NDRG1N-myc downstream-regulated gene 1 proteindifferentiation-related gene 1 proteinnickel-specific induction protein Cap43protein regulated by oxygen-1reducing agents and tunicamycin-responsive protein | aldo-keto reductase family 1 member C120 alpha-hydroxysteroid dehydrogenasealdo-keto reductase Cchlordecone reductase homolog HAKRCdihydrodiol dehydrogenase 1dihydrodiol dehydrogenase 1/2dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q92597 | P02748 | |
| Ensembl transtripts involved in fusion gene | ENST00000323851, ENST00000354944, ENST00000521414, ENST00000537882, ENST00000414097, ENST00000518176, ENST00000522476, ENST00000518066, | ENST00000263408, ENST00000509186, | |
| Fusion gene scores | * DoF score | 17 X 14 X 7=1666 | 5 X 4 X 3=60 |
| # samples | 22 | 5 | |
| ** MAII score | log2(22/1666*10)=-2.92081297184089 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NDRG1 [Title/Abstract] AND C9 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | C9 | GO:0007586 | digestion | 8486699 |
| Tgene | C9 | GO:0008206 | bile acid metabolic process | 8486699 |
| Tgene | C9 | GO:0030855 | epithelial cell differentiation | 21492153 |
| Tgene | C9 | GO:0042448 | progesterone metabolic process | 21232532 |
| Tgene | C9 | GO:0042574 | retinal metabolic process | 21851338 |
| Tgene | C9 | GO:0051260 | protein homooligomerization | 8486699 |
| Tgene | C9 | GO:0055114 | oxidation-reduction process | 8486699|19442656|21232532 |
| Tgene | C9 | GO:0071395 | cellular response to jasmonic acid stimulus | 19487289 |
| 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 | ESCA | TCGA-LN-A7HV-01A | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| * 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 | ENST00000323851 | ENST00000263408 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| 5CDS-5UTR | ENST00000323851 | ENST00000509186 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| Frame-shift | ENST00000354944 | ENST00000263408 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| 5CDS-5UTR | ENST00000354944 | ENST00000509186 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| intron-3CDS | ENST00000521414 | ENST00000263408 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| intron-5UTR | ENST00000521414 | ENST00000509186 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| 5UTR-3CDS | ENST00000537882 | ENST00000263408 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| 5UTR-5UTR | ENST00000537882 | ENST00000509186 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| Frame-shift | ENST00000414097 | ENST00000263408 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| 5CDS-5UTR | ENST00000414097 | ENST00000509186 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| intron-3CDS | ENST00000518176 | ENST00000263408 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| intron-5UTR | ENST00000518176 | ENST00000509186 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| intron-3CDS | ENST00000522476 | ENST00000263408 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| intron-5UTR | ENST00000522476 | ENST00000509186 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| intron-3CDS | ENST00000518066 | ENST00000263408 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
| intron-5UTR | ENST00000518066 | ENST00000509186 | NDRG1 | chr8 | 134292477 | - | C9 | chr5 | 39342300 | - |
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FusionProtFeatures for NDRG1_C9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NDRG1 | C9 |
| Stress-responsive protein involved in hormone responses,cell growth, and differentiation. Acts as a tumor suppressor inmany cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in celltrafficking, notably of the Schwann cell, and is necessary for themaintenance and development of the peripheral nerve myelin sheath.Required for vesicular recycling of CDH1 and TF. May also functionin lipid trafficking. Protects cells from spindle disruptiondamage. Functions in p53/TP53-dependent mitotic spindlecheckpoint. Regulates microtubule dynamics and maintains euploidy.{ECO:0000269|PubMed:15247272, ECO:0000269|PubMed:15377670,ECO:0000269|PubMed:17786215, ECO:0000269|PubMed:9766676}. | Constituent of the membrane attack complex (MAC) thatplays a key role in the innate and adaptive immune response byforming pores in the plasma membrane of target cells(PubMed:9634479, PubMed:9212048, PubMed:26841934). C9 is the pore-forming subunit of the MAC (PubMed:4055801, PubMed:26841934).{ECO:0000269|PubMed:26841934, ECO:0000269|PubMed:4055801,ECO:0000269|PubMed:9212048, ECO:0000269|PubMed:9634479}. |
| 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 NDRG1_C9 |
| 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 NDRG1_C9 |
| 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 |
| NDRG1 | ARL4D, PHYHIP, S100B, HSP90AA1, HSPA5, VCP, CANX, PSMC3, PSMC2, PSMD2, XRCC6, RUVBL2, ILF3, SEC23A, COPB2, CLTC, AP2M1, AP1M2, MME, CTNNB1, ACTG1, KIF5B, PPP2R2A, TLE3, HSD17B4, CNDP2, DARS, DLST, ACSL3, FASN, MAOA, LDHA, PKM, RPN2, TARS, SHMT2, SLC25A6, ATP1A1, EEF2, EEF1G, EIF2S3, EIF3E, PABPC1, RPS3, RPS6, RPL24, RPL3, RPS16, RPS8, RPS20, RPS9, RPL4, RPS26, NCL, HNRNPF, HNRNPU, HNRNPH1, DDX1, DDX5, UPF1, EWSR1, CDH1, ANXA5, CLNS1A, IGBP1, SPAG9, MLH1, ACOT7, DDX39B, GSR, DPP3, EIF4H, FTO, KYNU, MVD, NAMPT, PEPD, PGD, BCL2L11, HSPA4, CUL2, TAF9, SGK1, SUZ12, EED, NDRG2, DHX15, G6PD, GART, HIP1R, CCDC22, CLIC4, NAA50, RTCB, SH2D4A, THUMPD1, TIMM13, TSG101, USP14, XPO1, NIF3L1, NTMT1, TARDBP, UFM1, TMEM17, ERBB3, FXYD1, PDE4DIP, S1PR2, FAM60A, CDK15, TRIM25 | C9 | CLU, CD59, FN1, LAMTOR5, APOE, CST6 |
| - 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 NDRG1_C9 |
| 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 NDRG1_C9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NDRG1 | C0027627 | Neoplasm Metastasis | 2 | CTD_human |
| Hgene | NDRG1 | C0004114 | Astrocytoma | 1 | CTD_human |
| Hgene | NDRG1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | NDRG1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | NDRG1 | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | NDRG1 | C0022665 | Kidney Neoplasm | 1 | CTD_human |
| Hgene | NDRG1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | NDRG1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Hgene | NDRG1 | C0025202 | melanoma | 1 | CTD_human |
| Hgene | NDRG1 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Hgene | NDRG1 | C0029295 | Oropharyngeal Neoplasms | 1 | CTD_human |
| Hgene | NDRG1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | NDRG1 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Hgene | NDRG1 | C0206658 | Smooth Muscle Tumor | 1 | CTD_human |
| Hgene | NDRG1 | C0206734 | Hemangioblastoma | 1 | CTD_human |
| Hgene | NDRG1 | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human |
| Hgene | NDRG1 | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |
| Hgene | NDRG1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | C9 | C0021051 | Immunologic Deficiency Syndromes | 2 | CTD_human |
| Tgene | C9 | C0011633 | Dermatomyositis | 1 | CTD_human |
| Tgene | C9 | C0015456 | Facial Dermatoses | 1 | CTD_human |
| Tgene | C9 | C0025294 | Meningococcal meningitis | 1 | CTD_human |
| Tgene | C9 | C0027412 | Opioid-Related Disorders | 1 | CTD_human |
| Tgene | C9 | C0041834 | Erythema | 1 | CTD_human |
| Tgene | C9 | C0242383 | Age related macular degeneration | 1 | CTD_human |
| Tgene | C9 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Tgene | C9 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | C9 | C3151189 | C9 Deficiency | 1 | UNIPROT |
| Tgene | C9 | C3810042 | MACULAR DEGENERATION, AGE-RELATED, 15 | 1 | UNIPROT |
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