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Fusion gene ID: 9538 |
FusionGeneSummary for DDR2_PRKAA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DDR2_PRKAA1 | Fusion gene ID: 9538 | Hgene | Tgene | Gene symbol | DDR2 | PRKAA1 | Gene ID | 4921 | 5562 |
| Gene name | discoidin domain receptor tyrosine kinase 2 | protein kinase AMP-activated catalytic subunit alpha 1 | |
| Synonyms | MIG20a|NTRKR3|TKT|TYRO10 | AMPK|AMPKa1 | |
| Cytomap | 1q23.3 | 5p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | discoidin domain-containing receptor 2CD167 antigen-like family member Bcell migration-inducing protein 20discoidin domain receptor 2discoidin domain receptor family, member 2discoidin domain-containing receptor tyrosine kinase 2hydroxyaryl-protein | 5'-AMP-activated protein kinase catalytic subunit alpha-15'-AMP-activated protein kinase, catalytic alpha-1 chainACACA kinaseAMP -activate kinase alpha 1 subunitAMP-activated protein kinase, catalytic, alpha-1AMPK alpha 1AMPK subunit alpha-1HMGCR k | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q16832 | Q13131 | |
| Ensembl transtripts involved in fusion gene | ENST00000367922, ENST00000367921, | ENST00000397128, ENST00000354209, ENST00000296800, | |
| Fusion gene scores | * DoF score | 5 X 3 X 5=75 | 4 X 4 X 1=16 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: DDR2 [Title/Abstract] AND PRKAA1 [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 | DDR2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 20004161 |
| Hgene | DDR2 | GO:0038063 | collagen-activated tyrosine kinase receptor signaling pathway | 16186108 |
| Hgene | DDR2 | GO:0046777 | protein autophosphorylation | 16186108 |
| Tgene | PRKAA1 | GO:0006468 | protein phosphorylation | 17028174 |
| Tgene | PRKAA1 | GO:0010508 | positive regulation of autophagy | 22012985 |
| Tgene | PRKAA1 | GO:0010628 | positive regulation of gene expression | 17028174 |
| 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 |
| ChiTaRS3.1 | BF081999 | DDR2 | chr1 | 162753497 | + | PRKAA1 | chr5 | 40765238 | - |
| * 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 |
| 3UTR-3CDS | ENST00000367922 | ENST00000397128 | DDR2 | chr1 | 162753497 | + | PRKAA1 | chr5 | 40765238 | - |
| 3UTR-3CDS | ENST00000367922 | ENST00000354209 | DDR2 | chr1 | 162753497 | + | PRKAA1 | chr5 | 40765238 | - |
| 3UTR-intron | ENST00000367922 | ENST00000296800 | DDR2 | chr1 | 162753497 | + | PRKAA1 | chr5 | 40765238 | - |
| intron-3CDS | ENST00000367921 | ENST00000397128 | DDR2 | chr1 | 162753497 | + | PRKAA1 | chr5 | 40765238 | - |
| intron-3CDS | ENST00000367921 | ENST00000354209 | DDR2 | chr1 | 162753497 | + | PRKAA1 | chr5 | 40765238 | - |
| intron-intron | ENST00000367921 | ENST00000296800 | DDR2 | chr1 | 162753497 | + | PRKAA1 | chr5 | 40765238 | - |
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FusionProtFeatures for DDR2_PRKAA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DDR2 | PRKAA1 |
| Tyrosine kinase that functions as cell surface receptorfor fibrillar collagen and regulates cell differentiation,remodeling of the extracellular matrix, cell migration and cellproliferation. Required for normal bone development. Regulatesosteoblast differentiation and chondrocyte maturation via asignaling pathway that involves MAP kinases and leads to theactivation of the transcription factor RUNX2. Regulates remodelingof the extracellular matrix by up-regulation of the collagenasesMMP1, MMP2 and MMP13, and thereby facilitates cell migration andtumor cell invasion. Promotes fibroblast migration andproliferation, and thereby contributes to cutaneous wound healing.{ECO:0000269|PubMed:16186104, ECO:0000269|PubMed:16186108,ECO:0000269|PubMed:17665456, ECO:0000269|PubMed:18201965,ECO:0000269|PubMed:20004161, ECO:0000269|PubMed:20564243,ECO:0000269|PubMed:20734453, ECO:0000269|PubMed:9659899}. | Catalytic subunit of AMP-activated protein kinase(AMPK), an energy sensor protein kinase that plays a key role inregulating cellular energy metabolism. In response to reduction ofintracellular ATP levels, AMPK activates energy-producing pathwaysand inhibits energy-consuming processes: inhibits protein,carbohydrate and lipid biosynthesis, as well as cell growth andproliferation. AMPK acts via direct phosphorylation of metabolicenzymes, and by longer-term effects via phosphorylation oftranscription regulators. Also acts as a regulator of cellularpolarity by remodeling the actin cytoskeleton; probably byindirectly activating myosin. Regulates lipid synthesis byphosphorylating and inactivating lipid metabolic enzymes such asACACA, ACACB, GYS1, HMGCR and LIPE; regulates fatty acid andcholesterol synthesis by phosphorylating acetyl-CoA carboxylase(ACACA and ACACB) and hormone-sensitive lipase (LIPE) enzymes,respectively. Regulates insulin-signaling and glycolysis byphosphorylating IRS1, PFKFB2 and PFKFB3. AMPK stimulates glucoseuptake in muscle by increasing the translocation of the glucosetransporter SLC2A4/GLUT4 to the plasma membrane, possibly bymediating phosphorylation of TBC1D4/AS160. Regulates transcriptionand chromatin structure by phosphorylating transcriptionregulators involved in energy metabolism such as CRTC2/TORC2,FOXO3, histone H2B, HDAC5, MEF2C, MLXIPL/ChREBP, EP300, HNF4A,p53/TP53, SREBF1, SREBF2 and PPARGC1A. Acts as a key regulator ofglucose homeostasis in liver by phosphorylating CRTC2/TORC2,leading to CRTC2/TORC2 sequestration in the cytoplasm. In responseto stress, phosphorylates 'Ser-36' of histone H2B (H2BS36ph),leading to promote transcription. Acts as a key regulator of cellgrowth and proliferation by phosphorylating TSC2, RPTOR andATG1/ULK1: in response to nutrient limitation, negativelyregulates the mTORC1 complex by phosphorylating RPTOR component ofthe mTORC1 complex and by phosphorylating and activating TSC2. Inresponse to nutrient limitation, promotes autophagy byphosphorylating and activating ATG1/ULK1. In response to nutrientlimitation, phosphorylates transcription factor FOXO3 promotingFOXO3 mitochontrial import (By similarity). AMPK also acts as aregulator of circadian rhythm by mediating phosphorylation ofCRY1, leading to destabilize it. May regulate the Wnt signalingpathway by phosphorylating CTNNB1, leading to stabilize it. Alsohas tau-protein kinase activity: in response to amyloid beta A4protein (APP) exposure, activated by CAMKK2, leading tophosphorylation of MAPT/TAU; however the relevance of such dataremains unclear in vivo. Also phosphorylates CFTR, EEF2K, KLC1,NOS3 and SLC12A1. {ECO:0000250|UniProtKB:Q5EG47,ECO:0000269|PubMed:11518699, ECO:0000269|PubMed:11554766,ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:14651849,ECO:0000269|PubMed:15866171, ECO:0000269|PubMed:17486097,ECO:0000269|PubMed:17711846, ECO:0000269|PubMed:18184930,ECO:0000269|PubMed:18439900, ECO:0000269|PubMed:20074060,ECO:0000269|PubMed:20160076, ECO:0000269|PubMed:21205641}. |
| 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 DDR2_PRKAA1 |
| 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 DDR2_PRKAA1 |
| 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 |
| - 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 DDR2_PRKAA1 |
| 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 | DDR2 | Q16832 | DB08896 | Regorafenib | Discoidin domain-containing receptor 2 | small molecule | approved |
| Tgene | PRKAA1 | Q13131 | DB00914 | Phenformin | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | small molecule | approved|investigational|withdrawn |
| Tgene | PRKAA1 | Q13131 | DB00945 | Acetylsalicylic acid | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | small molecule | approved|vet_approved |
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RelatedDiseases for DDR2_PRKAA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DDR2 | C1849011 | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | DDR2 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | PRKAA1 | C0021655 | Insulin Resistance | 1 | CTD_human |
| Tgene | PRKAA1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | PRKAA1 | C0271650 | Impaired glucose tolerance | 1 | CTD_human |
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