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Fusion gene ID: 22060 |
FusionGeneSummary for MITF_PSMD6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MITF_PSMD6 | Fusion gene ID: 22060 | Hgene | Tgene | Gene symbol | MITF | PSMD6 | Gene ID | 4286 | 9861 |
| Gene name | melanogenesis associated transcription factor | proteasome 26S subunit, non-ATPase 6 | |
| Synonyms | CMM8|COMMAD|MI|WS2|WS2A|bHLHe32 | Rpn7|S10|SGA-113M|p42A|p44S10 | |
| Cytomap | 3p13 | 3p14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | microphthalmia-associated transcription factorclass E basic helix-loop-helix protein 32microphtalmia-associated transcription factor | 26S proteasome non-ATPase regulatory subunit 6breast cancer-associated protein SGA-113Mphosphonoformate immuno-associated protein 4proteasome (prosome, macropain) 26S subunit, non-ATPase, 6proteasome regulatory particle subunit p44S10 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | O75030 | Q15008 | |
| Ensembl transtripts involved in fusion gene | ENST00000352241, ENST00000448226, ENST00000472437, ENST00000328528, ENST00000314589, ENST00000394355, ENST00000314557, ENST00000394351, ENST00000531774, ENST00000394348, | ENST00000295901, ENST00000492933, ENST00000394431, ENST00000482510, | |
| Fusion gene scores | * DoF score | 7 X 3 X 3=63 | 3 X 3 X 3=27 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/63*10)=-0.333423733725192 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MITF [Title/Abstract] AND PSMD6 [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 | MITF | GO:0010628 | positive regulation of gene expression | 22234890 |
| Hgene | MITF | GO:0045893 | positive regulation of transcription, DNA-templated | 9647758 |
| Hgene | MITF | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20530484|21209915 |
| Hgene | MITF | GO:0065003 | protein-containing complex assembly | 20530484 |
| Hgene | MITF | GO:2000144 | positive regulation of DNA-templated transcription, initiation | 8995290|12204775 |
| Hgene | MITF | GO:2001141 | regulation of RNA biosynthetic process | 16411896 |
| 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 | SKCM | TCGA-D3-A2JG-06A | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| * 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 | ENST00000352241 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000352241 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000352241 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000352241 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000448226 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000448226 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000448226 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000448226 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000472437 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000472437 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000472437 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000472437 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000328528 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000328528 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000328528 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000328528 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314589 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314589 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314589 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314589 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394355 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394355 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394355 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394355 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314557 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314557 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314557 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314557 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394351 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394351 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394351 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394351 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000531774 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000531774 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000531774 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000531774 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394348 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394348 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394348 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394348 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
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FusionProtFeatures for MITF_PSMD6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MITF | PSMD6 |
| 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 MITF_PSMD6 |
| 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 MITF_PSMD6 |
| 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 |
| MITF | LEF1, PIAS3, PATZ1, UBE2I, TFE3, FOS, SPI1, PAX6, TFEC, SUMO1, PIAS1, PIAS2, PSMD14, MARK3, CDK2, ELAVL1, HINT1, APP, EPAS1, STUB1, HK3, EBP, EP300, XPO1, TFEB, RBM6, KLHL20, TRIM25 | PSMD6 | PSMD1, PSMD2, PSMD12, PSMD13, PSMD11, PSMD3, PSMC1, PSMC2, PSMC3, PSMC5, PSMD8, PSMD10, PSMD14, PSMD7, PSMC6, PAAF1, PSMC4, PSMA2, TELO2, PSMB5, PSMD4, UBE3C, UCHL5, USP14, USP20, SLX1B, UBAC1, HDAC5, PCK1, PSMA7, RAD23A, SHFM1, BRCA2, ZFAND5, PSMA6, FKBP8, FBXO25, PSME1, PSME2, PSMA3, PSMB7, PSMA1, PSMA5, PSMB1, PSMB3, PSMB6, PSMB2, PSMB4, PSMA4, PSMB10, PSMA8, PLS3, NUBP2, NOS2, PARK2, RNF11, TP53, HUWE1, UBQLN1, CUL7, AMFR, BUB1B, ZFAND2B, DKK1, CCDC74B, CCDC92, ADRM1, PSMB9, AMBRA1, AHCYL1, PSMB8, ATP1B1, ATP1B3, HNRNPU, MCFD2, PCID2, PEX19, PSMD5, PSMD9, SSRP1, VPS29, SYAP1, NTRK1, MED23, MLH1, TIMM13, PTPN2, UBLCP1, KDELR1, CCDC102B, ATG9A, UBC, RMND5B, DLD, HSD17B10, FAM107A, BRCA1, YAP1 |
| - 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 MITF_PSMD6 |
| 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 MITF_PSMD6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MITF | C3152204 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MITF | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | MITF | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | MITF | C0011053 | Deafness | 1 | CTD_human |
| Hgene | MITF | C0025202 | melanoma | 1 | CTD_human;HPO |
| Hgene | MITF | C0078918 | Albinism, Oculocutaneous | 1 | CTD_human |
| Hgene | MITF | C0151779 | Cutaneous Melanoma | 1 | CTD_human |
| Hgene | MITF | C0391816 | Tietz syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MITF | C0549567 | Pigmentation Disorders | 1 | CTD_human |
| Hgene | MITF | C1860339 | WAARDENBURG SYNDROME, TYPE IIA | 1 | CTD_human;UNIPROT |
| Hgene | MITF | C2700265 | Waardenburg Syndrome Type 2 | 1 | CTD_human;ORPHANET |
| Tgene | PSMD6 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Tgene | PSMD6 | C0019693 | HIV Infections | 1 | CTD_human |
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