|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 20895 |
FusionGeneSummary for MAP4K3_SMC6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAP4K3_SMC6 | Fusion gene ID: 20895 | Hgene | Tgene | Gene symbol | MAP4K3 | SMC6 | Gene ID | 8491 | 79677 |
| Gene name | mitogen-activated protein kinase kinase kinase kinase 3 | structural maintenance of chromosomes 6 | |
| Synonyms | GLK|MAPKKKK3|MEKKK 3|MEKKK3|RAB8IPL1 | SMC-6|SMC6L1|hSMC6 | |
| Cytomap | 2p22.1 | 2p24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitogen-activated protein kinase kinase kinase kinase 3MAPK/ERK kinase kinase kinase 3MEK kinase kinase 3germinal center kinase-like kinasegerminal center kinase-related protein kinase | structural maintenance of chromosomes protein 6SMC protein 6SMC6 structural maintenance of chromosomes 6-like 1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q8IVH8 | Q96SB8 | |
| Ensembl transtripts involved in fusion gene | ENST00000263881, ENST00000437545, ENST00000341681, ENST00000484274, ENST00000536018, ENST00000474502, | ENST00000402989, ENST00000448223, ENST00000351948, ENST00000381272, ENST00000489535, | |
| Fusion gene scores | * DoF score | 7 X 4 X 6=168 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/168*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: MAP4K3 [Title/Abstract] AND SMC6 [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 | MAP4K3 | GO:0006468 | protein phosphorylation | 9275185 |
| Hgene | MAP4K3 | GO:0009411 | response to UV | 9275185 |
| Hgene | MAP4K3 | GO:0034612 | response to tumor necrosis factor | 9275185 |
| Hgene | MAP4K3 | GO:0035556 | intracellular signal transduction | 9275185 |
| Tgene | SMC6 | GO:0006974 | cellular response to DNA damage stimulus | 11408570|25931565 |
| 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 | KIRP | TCGA-G7-6792-01A | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| * 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 |
| 5CDS-5UTR | ENST00000263881 | ENST00000402989 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000263881 | ENST00000448223 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000263881 | ENST00000351948 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000263881 | ENST00000381272 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-intron | ENST00000263881 | ENST00000489535 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000437545 | ENST00000402989 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000437545 | ENST00000448223 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000437545 | ENST00000351948 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000437545 | ENST00000381272 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-intron | ENST00000437545 | ENST00000489535 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000341681 | ENST00000402989 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000341681 | ENST00000448223 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000341681 | ENST00000351948 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000341681 | ENST00000381272 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-intron | ENST00000341681 | ENST00000489535 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000484274 | ENST00000402989 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000484274 | ENST00000448223 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000484274 | ENST00000351948 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-5UTR | ENST00000484274 | ENST00000381272 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| 5CDS-intron | ENST00000484274 | ENST00000489535 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000536018 | ENST00000402989 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000536018 | ENST00000448223 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000536018 | ENST00000351948 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000536018 | ENST00000381272 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-intron | ENST00000536018 | ENST00000489535 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000474502 | ENST00000402989 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000474502 | ENST00000448223 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000474502 | ENST00000351948 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-5UTR | ENST00000474502 | ENST00000381272 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
| intron-intron | ENST00000474502 | ENST00000489535 | MAP4K3 | chr2 | 39664033 | - | SMC6 | chr2 | 17927218 | - |
Top |
FusionProtFeatures for MAP4K3_SMC6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAP4K3 | SMC6 |
| May play a role in the response to environmental stress.Appears to act upstream of the JUN N-terminal pathway.{ECO:0000269|PubMed:9275185}. | Core component of the SMC5-SMC6 complex, a complexinvolved in DNA double-strand breaks by homologous recombination.The complex may promote sister chromatid homologous recombinationby recruiting the SMC1-SMC3 cohesin complex to double-strandbreaks. The complex is required for telomere maintenance viarecombination in ALT (alternative lengthening of telomeres) celllines and mediates sumoylation of shelterin complex (telosome)components which is proposed to lead to shelterin complexdisassembly in ALT-associated PML bodies (APBs). Required forrecruitment of telomeres to PML nuclear bodies. SMC5-SMC6 complexmay prevent transcription of episomal DNA, such as circular viralDNA genome (PubMed:26983541). {ECO:0000269|PubMed:16810316,ECO:0000269|PubMed:17589526, ECO:0000269|PubMed:26983541}. |
| 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 MAP4K3_SMC6 |
| 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 MAP4K3_SMC6 |
| 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 |
| MAP4K3 | GRB2, SORBS1, COPS5, ITSN2, SH3RF1, PCBP1, NTRK1, GAN, IL13RA1, VAPB, MAP4K5 | SMC6 | SMC5, ALK, NSMCE1, NSMCE2, NSMCE4A, EID3, NDNL2, SMC6, OBFC1, TUFT1, ZNF597, NTRK1, HIST1H3A, ZFP36L2, BTF3, SCARB2, HEXB, IGHMBP2, LAMA2, MKI67, TP53BP1, TTC3, IFT88, CEPT1, PRDX3, HPS5, KIF1B, ASCC1, GPN3, CCDC174, NCKIPSD, DGCR8, TTC19, HEATR1, ELP3, PLXNA3, FAM178A, TMEM165, RAD18, KLC2, TMEM126A, ANKRD32, MAK16, MUM1, ESCO1, B3GALTL, ZBED6, PJA1, TSPYL6, HSPB11, IFT27, HSF1 |
| - 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 MAP4K3_SMC6 |
| 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 MAP4K3_SMC6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|