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Fusion gene ID: 22122 |
FusionGeneSummary for MKS1_CCR7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MKS1_CCR7 | Fusion gene ID: 22122 | Hgene | Tgene | Gene symbol | MKS1 | CCR7 | Gene ID | 54903 | 1236 |
| Gene name | Meckel syndrome, type 1 | C-C motif chemokine receptor 7 | |
| Synonyms | BBS13|JBTS28|MES|MKS|POC12 | BLR2|CC-CKR-7|CCR-7|CD197|CDw197|CMKBR7|EBI1 | |
| Cytomap | 17q22 | 17q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Meckel syndrome type 1 proteinPOC12 centriolar protein homolog | C-C chemokine receptor type 7Bukitt's lymphoma receptor 2CC chemokine receptor 7EBV-induced G protein-coupled receptor 1Epstein-Barr virus induced gene 1Epstein-Barr virus-induced G-protein coupled receptor 1MIP-3 beta receptorchemokine (C-C motif) | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | Q9NXB0 | P32248 | |
| Ensembl transtripts involved in fusion gene | ENST00000393119, ENST00000313863, ENST00000337050, ENST00000537529, ENST00000546108, | ENST00000246657, ENST00000579344, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 6 X 2 X 6=72 |
| # samples | 3 | 7 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/72*10)=-0.0406419844973459 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MKS1 [Title/Abstract] AND CCR7 [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 | CCR7 | GO:0002408 | myeloid dendritic cell chemotaxis | 11602640 |
| Tgene | CCR7 | GO:0071345 | cellular response to cytokine stimulus | 11602640 |
| Tgene | CCR7 | GO:0090023 | positive regulation of neutrophil chemotaxis | 21051556 |
| 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 | BRCA | TCGA-C8-A275-01A | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
| * 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 | ENST00000393119 | ENST00000246657 | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
| 5CDS-5UTR | ENST00000393119 | ENST00000579344 | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
| Frame-shift | ENST00000313863 | ENST00000246657 | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
| 5CDS-5UTR | ENST00000313863 | ENST00000579344 | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
| Frame-shift | ENST00000337050 | ENST00000246657 | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
| 5CDS-5UTR | ENST00000337050 | ENST00000579344 | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
| Frame-shift | ENST00000537529 | ENST00000246657 | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
| 5CDS-5UTR | ENST00000537529 | ENST00000579344 | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
| Frame-shift | ENST00000546108 | ENST00000246657 | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
| 5CDS-5UTR | ENST00000546108 | ENST00000579344 | MKS1 | chr17 | 56289739 | - | CCR7 | chr17 | 38715194 | - |
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FusionProtFeatures for MKS1_CCR7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MKS1 | CCR7 |
| Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes. Involved in centrosome migrationto the apical cell surface during early ciliogenesis. Required forciliary structure and function, including a role in regulatinglength and appropriate number through modulating centrosomeduplication. Required for cell branching morphology.{ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853,ECO:0000269|PubMed:26490104}. | Receptor for the MIP-3-beta chemokine. Probable mediatorof EBV effects on B-lymphocytes or of normal lymphocyte functions. |
| 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 MKS1_CCR7 |
| 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 MKS1_CCR7 |
| 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 |
| MKS1 | DDX24, SHMT2, KLK5, TMEM231, ENPP6, LIPH, THBS3, B9D2, AP3M1, ARFGAP3, B9D1, R3HCC1L, CAD, CC2D1A, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, COPA, COPB1, COPZ1, DBT, DNAJC11, ECH1, EGLN1, FKBP4, GLMN, HAUS7, HAUS8, KIAA0355, MB21D2, NUDC, NUDCD2, NUDCD3, PDCL3, PIH1D1, RELA, RFC5, RPAP3, RRM2, SAMD4B, SUGT1, TBC1D2B, TCP1, TNRC6B, UNC45A, UXT, YTHDF1, AIP, BAG2, DNAJA1, DNAJA2, DNAJC7, LRRC49, TPGS1, TUBA8, TCTN2, CC2D2A, TMEM17, XPO1, SYNE2, TCTN1, DOCK5, LGALS7, PDDC1, C6orf141, CDC16, ARPC5, RAD51D, IL17RA, SSH3, ADAMTS4, ENPP7, PSG8, TSPYL6, PPIAL4G, CRYBA4, SNX21, RCCD1, TRIM35, POSTN | CCR7 | CCL19, ZMIZ1 |
| - 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 MKS1_CCR7 |
| 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 MKS1_CCR7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MKS1 | C0752166 | Bardet-Biedl Syndrome | 1 | CTD_human;ORPHANET |
| Hgene | MKS1 | C2673873 | BARDET-BIEDL SYNDROME 13 | 1 | UNIPROT |
| Hgene | MKS1 | C3714506 | Meckel syndrome type 1 | 1 | CTD_human;UNIPROT |
| Tgene | CCR7 | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
| Tgene | CCR7 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | CCR7 | C0178417 | Anhedonia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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