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Fusion gene ID: 19006 |
FusionGeneSummary for KLHDC4_MAF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KLHDC4_MAF | Fusion gene ID: 19006 | Hgene | Tgene | Gene symbol | KLHDC4 | MAF | Gene ID | 54758 | 4094 |
| Gene name | kelch domain containing 4 | MAF bZIP transcription factor | |
| Synonyms | - | AYGRP|CCA4|CTRCT21|c-MAF | |
| Cytomap | 16q24.2 | 16q23.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | kelch domain-containing protein 4 | transcription factor MafAvian musculoaponeurotic fibrosarcoma (MAF) protooncogeneT lymphocyte c-maf long formc-maf proto-oncogeneproto-oncogene c-Mafv-maf avian musculoaponeurotic fibrosarcoma oncogene homolog | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8TBB5 | O75444 | |
| Ensembl transtripts involved in fusion gene | ENST00000353170, ENST00000347925, ENST00000566349, ENST00000270583, | ENST00000569649, ENST00000326043, ENST00000393350, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: KLHDC4 [Title/Abstract] AND MAF [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 |
| 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 | PRAD | TCGA-G9-A9S7-01A | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| * 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-intron | ENST00000353170 | ENST00000569649 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| 5CDS-intron | ENST00000353170 | ENST00000326043 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| 5CDS-3UTR | ENST00000353170 | ENST00000393350 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| 5CDS-intron | ENST00000347925 | ENST00000569649 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| 5CDS-intron | ENST00000347925 | ENST00000326043 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| 5CDS-3UTR | ENST00000347925 | ENST00000393350 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| intron-intron | ENST00000566349 | ENST00000569649 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| intron-intron | ENST00000566349 | ENST00000326043 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| intron-3UTR | ENST00000566349 | ENST00000393350 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| 5CDS-intron | ENST00000270583 | ENST00000569649 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| 5CDS-intron | ENST00000270583 | ENST00000326043 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
| 5CDS-3UTR | ENST00000270583 | ENST00000393350 | KLHDC4 | chr16 | 87799398 | - | MAF | chr16 | 79628450 | - |
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FusionProtFeatures for KLHDC4_MAF |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KLHDC4 | MAF |
| Acts as a transcriptional activator or repressor.Involved in embryonic lens fiber cell development. Recruits thetranscriptional coactivators CREBBP and/or EP300 to crystallinpromoters leading to up-regulation of crystallin gene during lensfiber cell differentiation. Activates the expression of IL4 in Thelper 2 (Th2) cells. Increases T-cell susceptibility to apoptosisby interacting with MYB and decreasing BCL2 expression. Togetherwith PAX6, transactivates strongly the glucagon gene promoterthrough the G1 element. Activates transcription of the CD13proximal promoter in endothelial cells. Represses transcription ofthe CD13 promoter in early stages of myelopoiesis by affecting theETS1 and MYB cooperative interaction. Involved in the initialchondrocyte terminal differentiation and the disappearance ofhypertrophic chondrocytes during endochondral bone development.Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7promoter. Binds to the T-MARE (Maf response element) sites oflens-specific alpha- and beta-crystallin gene promoters. Bindselement G1 on the glucagon promoter. Binds an AT-rich regionadjacent to the TGC motif (atypical Maf response element) in theCD13 proximal promoter in endothelial cells (By similarity). Whenoverexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as atumor suppressor, depending on the cell context. Binds to the AREsites of detoxifying enzyme gene promoters. {ECO:0000250,ECO:0000269|PubMed:12149651, ECO:0000269|PubMed:14998494,ECO:0000269|PubMed:15007382, ECO:0000269|PubMed:16247450,ECO:0000269|PubMed:19143053}. |
| 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 KLHDC4_MAF |
| 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 KLHDC4_MAF |
| 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 |
| KLHDC4 | TERF1, KDM1A, SUV39H1, SUV39H2, CEP76, SHMT2, MOV10, NXF1, CROT, RPS19 | MAF | EP300, CREBBP, USF2, SOX9, MYB, ETS1, MAFG, MAF, HOXD12, KDM5B, CEBPA, SMARCA5, HDAC2, SIN3A, FOS, UBE2I, PML, AHR, MAFB, ATF4, FOSL1, NFE2L2 |
| - 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 KLHDC4_MAF |
| 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 KLHDC4_MAF |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MAF | C3888097 | CATARACT 21, MULTIPLE TYPES | 3 | UNIPROT |
| Tgene | MAF | C0008372 | Intrahepatic Cholestasis | 1 | CTD_human |
| Tgene | MAF | C1832812 | Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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