|
Fusion gene ID: 21096 |
FusionGeneSummary for MARK4_CLASRP |
Fusion gene summary |
Fusion gene information | Fusion gene name: MARK4_CLASRP | Fusion gene ID: 21096 | Hgene | Tgene | Gene symbol | MARK4 | CLASRP | Gene ID | 57787 | 11129 |
Gene name | microtubule affinity regulating kinase 4 | CLK4 associating serine/arginine rich protein | |
Synonyms | MARK4L|MARK4S|MARKL1|MARKL1L|PAR-1D | CLASP|SFRS16|SWAP2 | |
Cytomap | 19q13.32 | 19q13.32 | |
Type of gene | protein-coding | protein-coding | |
Description | MAP/microtubule affinity-regulating kinase 4MAP/microtubule affinity-regulating kinase like 1MARK4 serine/threonine protein kinase | CLK4-associating serine/arginine rich proteinClk4 associating SR-related proteinsplicing factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog, Drosophila)suppressor of white apricot homolog 2 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q96L34 | Q8N2M8 | |
Ensembl transtripts involved in fusion gene | ENST00000262891, ENST00000300843, | ENST00000221455, ENST00000391953, ENST00000544944, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 6 X 7 X 5=210 |
# samples | 3 | 7 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MARK4 [Title/Abstract] AND CLASRP [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 | MARK4 | GO:0007399 | nervous system development | 14594945 |
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-AR-A2LR-01A | MARK4 | chr19 | 45803113 | + | CLASRP | chr19 | 45555329 | + |
* 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 | ENST00000262891 | ENST00000221455 | MARK4 | chr19 | 45803113 | + | CLASRP | chr19 | 45555329 | + |
Frame-shift | ENST00000262891 | ENST00000391953 | MARK4 | chr19 | 45803113 | + | CLASRP | chr19 | 45555329 | + |
Frame-shift | ENST00000262891 | ENST00000544944 | MARK4 | chr19 | 45803113 | + | CLASRP | chr19 | 45555329 | + |
Frame-shift | ENST00000300843 | ENST00000221455 | MARK4 | chr19 | 45803113 | + | CLASRP | chr19 | 45555329 | + |
Frame-shift | ENST00000300843 | ENST00000391953 | MARK4 | chr19 | 45803113 | + | CLASRP | chr19 | 45555329 | + |
Frame-shift | ENST00000300843 | ENST00000544944 | MARK4 | chr19 | 45803113 | + | CLASRP | chr19 | 45555329 | + |
Top |
FusionProtFeatures for MARK4_CLASRP |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MARK4 | CLASRP |
Serine/threonine-protein kinase (PubMed:15009667,PubMed:14594945, PubMed:23666762, PubMed:23184942). Phosphorylatesthe microtubule-associated protein MAPT/TAU (PubMed:14594945,PubMed:23666762). Also phosphorylates the microtubule-associatedproteins MAP2 and MAP4 (PubMed:14594945). Involved in regulationof the microtubule network, causing reorganization of microtubulesinto bundles (PubMed:14594945, PubMed:25123532). Required for theinitiation of axoneme extension during cilium assembly(PubMed:23400999). Regulates the centrosomal location of ODF2 andphosphorylates ODF2 in vitro (PubMed:23400999). Plays a role incell cycle progression, specifically in the G1/S checkpoint(PubMed:25123532). Reduces neuronal cell survival(PubMed:15009667). Plays a role in energy homeostasis byregulating satiety and metabolic rate (By similarity). Promotesadipogenesis by activating JNK1 and inhibiting the p38MAPKpathway, and triggers apoptosis by activating the JNK1 pathway (Bysimilarity). Phosphorylates mTORC1 complex member RPTOR and actsas a negative regulator of the mTORC1 complex, probably due todisruption of the interaction between phosphorylated RPTOR and theRRAGA/RRAGC heterodimer which is required for mTORC1 activation(PubMed:23184942). {ECO:0000250|UniProtKB:Q8CIP4,ECO:0000269|PubMed:14594945, ECO:0000269|PubMed:15009667,ECO:0000269|PubMed:23184942, ECO:0000269|PubMed:23400999,ECO:0000269|PubMed:23666762, ECO:0000269|PubMed:25123532}. | Probably functions as an alternative splicing regulator.May regulate the mRNA splicing of genes such as CLK1. May act byregulating members of the CLK kinase family (By similarity).{ECO:0000250}. |
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 MARK4_CLASRP |
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 MARK4_CLASRP |
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 |
MARK4 | MYH9, MYH10, HSPA4, TUBG1, ACTA1, TUBB, TUBA1A, MAP2, MAPT, MAP4, HGS, USP9X, USP21, MARK2, PRKAA1, NEDD4, YWHAH, PRKCI, PARD6A, STK11, ARHGEF2, MTCL1, KCTD20, PPP2R1A, PNMA1, SOGA1, RNF41, MYO18A, MYBBP1A, PPP2CB, SMARCA4, CDC42, PNMA2, DOCK7, USP7, CYFIP1, CYFIP2, PRNP, RPTOR, ODF2, HNRNPK, KRT31, KHDRBS3, MTUS2, KRT40, NOTCH2NL, PTBP1, RPIA, PSMC3, MANSC1, TRIM25 | CLASRP | RHOXF2, DYRK1A, CLK4, TERF2, VDR, ATXN1, APP, BARD1, CDK6, SRPK2, DAB1, DAZAP2, LUC7L, LUC7L2, SNIP1, CLK1, XPO1, CFAP20, ATXN1L, U2AF2, TMEM184B, WSB2, PUM2, CLK2, PIP4K2A, GAK, JPH4, ACADVL, ZNF703, RBM38, HELZ, PUM1, ATXN2, EED |
- 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 MARK4_CLASRP |
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 MARK4_CLASRP |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |