|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 21067 |
FusionGeneSummary for MARK1_RHOU |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MARK1_RHOU | Fusion gene ID: 21067 | Hgene | Tgene | Gene symbol | MARK1 | RHOU | Gene ID | 4139 | 58480 |
| Gene name | microtubule affinity regulating kinase 1 | ras homolog family member U | |
| Synonyms | MARK|Par-1c|Par1c | ARHU|CDC42L1|G28K|WRCH1|hG28K | |
| Cytomap | 1q41 | 1q42.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase MARK1MAP/microtubule affinity-regulating kinase 1PAR1 homolog c | rho-related GTP-binding protein RhoU2310026M05RikCDC42-like GTPase 1GTP-binding protein SB128GTP-binding protein like 1Ryu GTPaseras homolog gene family, member Uras-like gene family member Urho GTPase-like protein ARHUwnt-1 responsive Cdc42 homo | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9P0L2 | Q7L0Q8 | |
| Ensembl transtripts involved in fusion gene | ENST00000402574, ENST00000366918, ENST00000366917, ENST00000485104, | ENST00000366691, ENST00000493528, | |
| Fusion gene scores | * DoF score | 3 X 4 X 3=36 | 6 X 5 X 4=120 |
| # samples | 3 | 7 | |
| ** MAII score | log2(3/36*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MARK1 [Title/Abstract] AND RHOU [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 | MARK1 | GO:0006468 | protein phosphorylation | 14976552 |
| Hgene | MARK1 | GO:0035556 | intracellular signal transduction | 14976552 |
| 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 | SKCM | TCGA-EE-A29D-06A | MARK1 | chr1 | 220831176 | + | RHOU | chr1 | 228873420 | + |
| TCGA | LD | SKCM | TCGA-EE-A29D-06A | MARK1 | chr1 | 220826694 | + | RHOU | chr1 | 228873420 | + |
| * 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 | ENST00000402574 | ENST00000366691 | MARK1 | chr1 | 220831176 | + | RHOU | chr1 | 228873420 | + |
| intron-intron | ENST00000402574 | ENST00000493528 | MARK1 | chr1 | 220831176 | + | RHOU | chr1 | 228873420 | + |
| intron-3CDS | ENST00000366918 | ENST00000366691 | MARK1 | chr1 | 220831176 | + | RHOU | chr1 | 228873420 | + |
| intron-intron | ENST00000366918 | ENST00000493528 | MARK1 | chr1 | 220831176 | + | RHOU | chr1 | 228873420 | + |
| Frame-shift | ENST00000366917 | ENST00000366691 | MARK1 | chr1 | 220831176 | + | RHOU | chr1 | 228873420 | + |
| 5CDS-intron | ENST00000366917 | ENST00000493528 | MARK1 | chr1 | 220831176 | + | RHOU | chr1 | 228873420 | + |
| intron-3CDS | ENST00000485104 | ENST00000366691 | MARK1 | chr1 | 220831176 | + | RHOU | chr1 | 228873420 | + |
| intron-intron | ENST00000485104 | ENST00000493528 | MARK1 | chr1 | 220831176 | + | RHOU | chr1 | 228873420 | + |
| Frame-shift | ENST00000402574 | ENST00000366691 | MARK1 | chr1 | 220826694 | + | RHOU | chr1 | 228873420 | + |
| 5CDS-intron | ENST00000402574 | ENST00000493528 | MARK1 | chr1 | 220826694 | + | RHOU | chr1 | 228873420 | + |
| Frame-shift | ENST00000366918 | ENST00000366691 | MARK1 | chr1 | 220826694 | + | RHOU | chr1 | 228873420 | + |
| 5CDS-intron | ENST00000366918 | ENST00000493528 | MARK1 | chr1 | 220826694 | + | RHOU | chr1 | 228873420 | + |
| Frame-shift | ENST00000366917 | ENST00000366691 | MARK1 | chr1 | 220826694 | + | RHOU | chr1 | 228873420 | + |
| 5CDS-intron | ENST00000366917 | ENST00000493528 | MARK1 | chr1 | 220826694 | + | RHOU | chr1 | 228873420 | + |
| intron-3CDS | ENST00000485104 | ENST00000366691 | MARK1 | chr1 | 220826694 | + | RHOU | chr1 | 228873420 | + |
| intron-intron | ENST00000485104 | ENST00000493528 | MARK1 | chr1 | 220826694 | + | RHOU | chr1 | 228873420 | + |
Top |
FusionProtFeatures for MARK1_RHOU |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MARK1 | RHOU |
| Serine/threonine-protein kinase (PubMed:23666762).Involved in cell polarity and microtubule dynamics regulation.Phosphorylates DCX, MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Involved in cellpolarity by phosphorylating the microtubule-associated proteinsMAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment frommicrotubules, and their disassembly. Involved in the regulation ofneuronal migration through its dual activities in regulatingcellular polarity and microtubule dynamics, possibly byphosphorylating and regulating DCX. Also acts as a positiveregulator of the Wnt signaling pathway, probably by mediatingphosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3).{ECO:0000269|PubMed:11433294, ECO:0000269|PubMed:17573348,ECO:0000269|PubMed:23666762}. | Acts upstream of PAK1 to regulate the actincytoskeleton, adhesion turnover and increase cell migration.Stimulates quiescent cells to reenter the cell cycle. Has nodetectable GTPase activity but its high intrinsic guaninenucleotide exchange activity suggests it is constitutively GTP-bound. Plays a role in the regulation of cell morphology andcytoskeletal organization. Required in the control of cell shape.{ECO:0000269|PubMed:11459829, ECO:0000269|PubMed:16472646,ECO:0000269|PubMed:17620058, ECO:0000269|PubMed:18086875,ECO:0000269|PubMed:21834987}. |
| 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 |
Top |
FusionGeneSequence for MARK1_RHOU |
| 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). |
Top |
FusionGenePPI for MARK1_RHOU |
| 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 |
| MARK1 | SFN, USP21, MARK2, PRKAA1, YWHAH, YWHAZ, MAPT, GJA5, YWHAB, HECW2, CCDC102B, COL4A3BP, CDH19 | RHOU | PAK4, ZFAND2B, PLEK, CTCF, POT1, ERF, RALBP1, MARCKS, ERO1L, ZNF177, RPS15A, ZNF625, DMRT2, CPNE3, CLEC7A, TCN2, NR1H2, ANXA4, ZFP64, JAM3, PGK1, C14orf119, CCDC37, LANCL2, IL17F, ANGPT4, NRBF2, BRF1, PCDHGA4, SLC26A1, RASSF1, STX16, KAAG1, LAYN, GALNTL5, HSD17B13, SEMA3G, MRPL15, C8orf59, RAB40A, EIF4B, CHRNA4, SEC14L4, ANXA6, ME3, ACAD8, NPM3, SKIV2L, S100A4, INSM2, PRB1, DOK4, NHP2L1, ADM2, SYK, DNM2, FAM110B, LYL1, PRPF18, OXCT2, PIP5K1A, TMEM169, SEPT6, TMEM255B, ID2, ZNF117, KIAA1191, WNT6, BDNF, KLRC3, PSMA4, NXPH4, TRIM59, PDLIM3, ATP6AP1, GLI3, FKBP15, LMO7, ZNF569, ZNF84, ALG13, USP37, SOX4, SIVA1, LARS2, ATP5L, MOS, MRAS, ARNTL, HIST1H2BM, QTRT1, GPRIN2, NCR1, ARHGEF25, DACT2, TEKT2, AP1S1, HINT3, TMEM106A, PLOD3, FCHO2, CDKL4, XPA, ZNF747, BNIPL, AS3MT, ZNF20, DSCR8, ELP5, BRINP3, ZKSCAN7, ESYT1, RPS17P16, UTP3, RPL23AP5, P4HTM, RAD51D, EMC2, HCAR1, VWA5A, SSC4D, IFFO1, CUL5, PXN, PAK1, IFNGR1, IP6K2 |
| - 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 |
Top |
RelatedDrugs for MARK1_RHOU |
| 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 |
Top |
RelatedDiseases for MARK1_RHOU |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MARK1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | MARK1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|