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Fusion gene ID: 11635 |
FusionGeneSummary for ENPP1_CDX1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ENPP1_CDX1 | Fusion gene ID: 11635 | Hgene | Tgene | Gene symbol | ENPP1 | CDX1 | Gene ID | 5167 | 1044 |
| Gene name | ectonucleotide pyrophosphatase/phosphodiesterase 1 | caudal type homeobox 1 | |
| Synonyms | ARHR2|COLED|M6S1|NPP1|NPPS|PC-1|PCA1|PDNP1 | - | |
| Cytomap | 6q23.2 | 5q32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ectonucleotide pyrophosphatase/phosphodiesterase family member 1E-NPP 1Ly-41 antigenalkaline phosphodiesterase 1membrane component, chromosome 6, surface marker 1phosphodiesterase I/nucleotide pyrophosphatase 1plasma-cell membrane glycoprotein 1pla | homeobox protein CDX-1caudal type homeo box transcription factor 1caudal type homeobox transcription factor 1caudal-type homeobox protein 1caudal-type homeobox protein CDX1 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P22413 | P47902 | |
| Ensembl transtripts involved in fusion gene | ENST00000360971, | ENST00000231656, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ENPP1 [Title/Abstract] AND CDX1 [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 | ENPP1 | GO:0006091 | generation of precursor metabolites and energy | 12746903 |
| Hgene | ENPP1 | GO:0006796 | phosphate-containing compound metabolic process | 10513816|11159191 |
| Hgene | ENPP1 | GO:0009143 | nucleoside triphosphate catabolic process | 10513816 |
| Hgene | ENPP1 | GO:0030308 | negative regulation of cell growth | 17849011 |
| Hgene | ENPP1 | GO:0030505 | inorganic diphosphate transport | 10513816 |
| Hgene | ENPP1 | GO:0030643 | cellular phosphate ion homeostasis | 11159191 |
| Hgene | ENPP1 | GO:0030730 | sequestering of triglyceride | 17849011 |
| Hgene | ENPP1 | GO:0031953 | negative regulation of protein autophosphorylation | 11289049 |
| Hgene | ENPP1 | GO:0032869 | cellular response to insulin stimulus | 7830796|17849011 |
| Hgene | ENPP1 | GO:0045599 | negative regulation of fat cell differentiation | 17849011 |
| Hgene | ENPP1 | GO:0045719 | negative regulation of glycogen biosynthetic process | 11289049 |
| Hgene | ENPP1 | GO:0046325 | negative regulation of glucose import | 17849011 |
| Hgene | ENPP1 | GO:0046627 | negative regulation of insulin receptor signaling pathway | 7830796|17849011 |
| Hgene | ENPP1 | GO:0050427 | 3'-phosphoadenosine 5'-phosphosulfate metabolic process | 7830796 |
| Hgene | ENPP1 | GO:0090305 | nucleic acid phosphodiester bond hydrolysis | 22285541 |
| Tgene | CDX1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15774940 |
| 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 | LIHC | TCGA-RC-A6M5-01A | ENPP1 | chr6 | 132181646 | + | CDX1 | chr5 | 149562331 | + |
| * 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 | ENST00000360971 | ENST00000231656 | ENPP1 | chr6 | 132181646 | + | CDX1 | chr5 | 149562331 | + |
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FusionProtFeatures for ENPP1_CDX1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ENPP1 | CDX1 |
| By generating PPi, plays a role in regulatingpyrophosphate levels, and functions in bone mineralization andsoft tissue calcification. PPi inhibits mineralization by bindingto nascent hydroxyapatite (HA) crystals, thereby preventingfurther growth of these crystals. Preferentially hydrolyzes ATP,but can also hydrolyze other nucleoside 5' triphosphates such asGTP, CTP, TTP and UTP to their corresponding monophosphates withrelease of pyrophosphate and diadenosine polyphosphates, and also3',5'-cAMP to AMP. May also be involved in the regulation of theavailability of nucleotide sugars in the endoplasmic reticulum andGolgi, and the regulation of purinergic signaling. Appears tomodulate insulin sensitivity and function.{ECO:0000269|PubMed:10615944, ECO:0000269|PubMed:27467858,ECO:0000269|PubMed:8001561}. | Plays a role in transcriptional regulation(PubMed:24623306). Involved in activated KRAS-mediatedtranscriptional activation of PRKD1 in colorectal cancer (CRC)cells (PubMed:24623306). Binds to the PRKD1 promoter in colorectalcancer (CRC) cells (PubMed:24623306). Could play a role in theterminal differentiation of the intestine. Binds preferentially tomethylated DNA (PubMed:28473536). {ECO:0000269|PubMed:24623306,ECO:0000269|PubMed:28473536}. |
| 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 ENPP1_CDX1 |
| 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 ENPP1_CDX1 |
| 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 |
| ENPP1 | INSR, SQSTM1, PTCH1, BZW1, FNTB, PON2, HERC2, PSMD12, PSMA1, PSMB1, USP2, FANCE, ATP6V0D1, EIF2B2 | CDX1 | LEF1, SOX2, LGR4, CEBPA, CABIN1, HIRA, DHX29, TUBA8, UBN2, ZCCHC6, ZNF724P, KBTBD7, PUM2, KBTBD6, ZNF107, CDK12, TRIM71, ZCCHC17, ZNF121, C10orf2, HIST2H3PS2, RPL26L1, ELAVL2, PARP2, SREK1, NGRN, TRUB2, UPF1, RBM23, RPL36AL, CLK2, YTHDC1, PTCD1, GNL2, DHX8, ASH1L, CASC3, SDAD1, BUD13, RBBP6, MTERF3, DHX30, LARP1B, STAU2, DDX10, SRSF5, ZFR, RBM19, ZNF431, ANKRD17, SRSF1, UTP3, SRRM1, ZCCHC3, FAM120A, MYBBP1A, GTPBP4, STRBP, GLYR1, ANKHD1, MRPS9, BMS1, RSBN1L |
| - 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 ENPP1_CDX1 |
| 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 |
| Hgene | ENPP1 | P22413 | DB00811 | Ribavirin | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 | small molecule | approved |
| Hgene | ENPP1 | P22413 | DB01143 | Amifostine | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 | small molecule | approved|investigational |
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RelatedDiseases for ENPP1_CDX1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ENPP1 | C1859727 | Arterial calcification of infancy | 6 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ENPP1 | C2750078 | Hypophosphatemic Rickets, Autosomal Recessive, 2 | 4 | CTD_human;UNIPROT |
| Hgene | ENPP1 | C3809781 | Cole disease | 2 | ORPHANET;UNIPROT |
| Hgene | ENPP1 | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | ENPP1 | C1865343 | OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE | 1 | CTD_human;UNIPROT |
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