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Fusion gene ID: 20814 |
FusionGeneSummary for MAP2K4_PSMD12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAP2K4_PSMD12 | Fusion gene ID: 20814 | Hgene | Tgene | Gene symbol | MAP2K4 | PSMD12 | Gene ID | 6416 | 5718 |
| Gene name | mitogen-activated protein kinase kinase 4 | proteasome 26S subunit, non-ATPase 12 | |
| Synonyms | JNKK|JNKK1|MAPKK4|MEK4|MKK4|PRKMK4|SAPKK-1|SAPKK1|SEK1|SERK1|SKK1 | Rpn5|STISS|p55 | |
| Cytomap | 17p12 | 17q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dual specificity mitogen-activated protein kinase kinase 4JNK-activated kinase 1JNK-activating kinase 1MAP kinase kinase 4MAPK/ERK kinase 4MAPKK 4MEK 4SAPK/ERK kinase 1c-Jun N-terminal kinase kinase 1stress-activated protein kinase kinase 1 | 26S proteasome non-ATPase regulatory subunit 1226S proteasome regulatory subunit RPN526S proteasome regulatory subunit p55proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P45985 | O00232 | |
| Ensembl transtripts involved in fusion gene | ENST00000353533, ENST00000415385, ENST00000581941, | ENST00000356126, ENST00000357146, ENST00000581618, | |
| Fusion gene scores | * DoF score | 6 X 4 X 5=120 | 6 X 6 X 3=108 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MAP2K4 [Title/Abstract] AND PSMD12 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| 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 | HNSC | TCGA-RS-A6TP-01A | MAP2K4 | chr17 | 11924318 | + | PSMD12 | chr17 | 65353694 | - |
| * 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 | ENST00000353533 | ENST00000356126 | MAP2K4 | chr17 | 11924318 | + | PSMD12 | chr17 | 65353694 | - |
| 5CDS-intron | ENST00000353533 | ENST00000357146 | MAP2K4 | chr17 | 11924318 | + | PSMD12 | chr17 | 65353694 | - |
| 5CDS-5UTR | ENST00000353533 | ENST00000581618 | MAP2K4 | chr17 | 11924318 | + | PSMD12 | chr17 | 65353694 | - |
| Frame-shift | ENST00000415385 | ENST00000356126 | MAP2K4 | chr17 | 11924318 | + | PSMD12 | chr17 | 65353694 | - |
| 5CDS-intron | ENST00000415385 | ENST00000357146 | MAP2K4 | chr17 | 11924318 | + | PSMD12 | chr17 | 65353694 | - |
| 5CDS-5UTR | ENST00000415385 | ENST00000581618 | MAP2K4 | chr17 | 11924318 | + | PSMD12 | chr17 | 65353694 | - |
| intron-3CDS | ENST00000581941 | ENST00000356126 | MAP2K4 | chr17 | 11924318 | + | PSMD12 | chr17 | 65353694 | - |
| intron-intron | ENST00000581941 | ENST00000357146 | MAP2K4 | chr17 | 11924318 | + | PSMD12 | chr17 | 65353694 | - |
| intron-5UTR | ENST00000581941 | ENST00000581618 | MAP2K4 | chr17 | 11924318 | + | PSMD12 | chr17 | 65353694 | - |
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FusionProtFeatures for MAP2K4_PSMD12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAP2K4 | PSMD12 |
| Dual specificity protein kinase which acts as anessential component of the MAP kinase signal transduction pathway.Essential component of the stress-activated protein kinase/c-JunN-terminal kinase (SAP/JNK) signaling pathway. With MAP2K7/MKK7,is the one of the only known kinase to directly activate thestress-activated protein kinase/c-Jun N-terminal kinasesMAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 andMAP2K7/MKK7 both activate the JNKs by phosphorylation, but theydiffer in their preference for the phosphorylation site in theThr-Pro-Tyr motif. MAP2K4 shows preference for phosphorylation ofthe Tyr residue and MAP2K7/MKK7 for the Thr residue. Thephosphorylation of the Thr residue by MAP2K7/MKK7 seems to be theprerequisite for JNK activation at least in response toproinflammatory cytokines, while other stimuli activate bothMAP2K4/MKK4 and MAP2K7/MKK7 which synergistically phosphorylateJNKs. MAP2K4 is required for maintaining peripheral lymphoidhomeostasis. The MKK/JNK signaling pathway is also involved inmitochondrial death signaling pathway, including the releasecytochrome c, leading to apoptosis. Whereas MAP2K7/MKK7exclusively activates JNKs, MAP2K4/MKK4 additionally activates thep38 MAPKs MAPK11, MAPK12, MAPK13 and MAPK14.{ECO:0000269|PubMed:7716521}. | Component of the 26S proteasome, a multiprotein complexinvolved in the ATP-dependent degradation of ubiquitinatedproteins. This complex plays a key role in the maintenance ofprotein homeostasis by removing misfolded or damaged proteins,which could impair cellular functions, and by removing proteinswhose functions are no longer required. Therefore, the proteasomeparticipates in numerous cellular processes, including cell cycleprogression, apoptosis, or DNA damage repair.{ECO:0000269|PubMed:1317798}. |
| 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 MAP2K4_PSMD12 |
| 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 MAP2K4_PSMD12 |
| 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 |
| MAP2K4 | FLNC, SPAG9, MAPK8, MAP4K2, MAP2K7, MAP3K8, AKT1, MAPK8IP3, MAP3K11, MAP3K4, ARRB2, MAP3K2, MAP3K1, NPHS1, ITCH, MAPK9, BLNK, PML, MAPK10, MAP3K5, MAP2K6, MAP2K4, MAPK14, MAP3K3, LRRK2, APP, JUN, MAP3K7, ARRB1, MAPK1, GCH1, GEMIN5, RBBP8, EGFR, MAP3K10, NBR1, KTI12, VASP, FLNB, CDC5L, UBC, TRIM25 | PSMD12 | PSMD13, PSMD6, PAAF1, PSMD10, TRAF6, PSMD14, PSMD7, UCHL5, USP14, USP20, RNF185, UBC, INSIG2, EIF3E, PSMD12, EIF3D, PSMC6, CALM1, SHFM1, PCK1, RAD23A, PSMD3, SIRT7, FKBP8, PSMA2, PSMC1, PSMC3, PSMC2, PSMC5, PSMD11, PSMD1, PSMD2, PSMD8, PSMD4, PSMC4, PSMB1, PSMB5, PSMA6, PSMA7, PSMA5, PSMB7, PSMA1, PSMB6, PSMB2, PSMA4, PSMB3, PSMB4, PSME1, PSME3, HDLBP, UGGT1, NOS2, PARK2, NPM1, RNF11, BAG3, HNRNPA0, KIAA0368, FLNB, FLNC, KCMF1, SQSTM1, TXNL1, HUWE1, FUS, RNF2, CCDC74B, CCDC92, ADRM1, PSMB9, AMBRA1, MCM7, NAA15, NAA16, PSMA3, PSMB8, AHCYL1, CAD, COPE, COPS7A, CUL1, IKBKAP, ITGAV, MCFD2, NLRP9, PPID, PSMD9, PSMD5, SGTA, KRAS, SNW1, CDC5L, ENPP1, HMGB2, UBLCP1, EIF3H, EIF3M, STKLD1, EIF3L, EIF3C, KDELR1, TRIM11, INTU, HSD17B10, CCND2, BRCA1 |
| - 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 MAP2K4_PSMD12 |
| 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 MAP2K4_PSMD12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PSMD12 | C0011616 | Contact Dermatitis | 1 | CTD_human |
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