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Fusion gene ID: 10272 |
FusionGeneSummary for DNAJC5_MED1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: DNAJC5_MED1 | Fusion gene ID: 10272 | Hgene | Tgene | Gene symbol | DNAJC5 | MED1 | Gene ID | 80331 | 8930 |
Gene name | DnaJ heat shock protein family (Hsp40) member C5 | methyl-CpG binding domain 4, DNA glycosylase | |
Synonyms | CLN4|CLN4B|CSP|DNAJC5A|NCL|mir-941-2|mir-941-3|mir-941-4|mir-941-5 | MED1 | |
Cytomap | 20q13.33 | 3q21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | dnaJ homolog subfamily C member 5DnaJ (Hsp40) homolog, subfamily C, member 5ceroid-lipofuscinosis neuronal protein 4cysteine string protein alpha | methyl-CpG-binding domain protein 43,N(4)-ethenocytosine glycosylaseG/5-fluorouracil mismatch glycosylase with biphasic kineticsG/T mismatch glycosylaseG/U mismatch glycosylasemethyl-CpG binding domain protein 4methyl-CpG-binding endonuclease 1meth | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9H3Z4 | Q15648 | |
Ensembl transtripts involved in fusion gene | ENST00000369911, ENST00000360864, | ENST00000394287, ENST00000300651, | |
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 7 X 6 X 5=210 |
# samples | 4 | 7 | |
** MAII score | log2(4/32*10)=0.321928094887362 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: DNAJC5 [Title/Abstract] AND MED1 [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 |
ChiTaRS3.1 | BE818200 | DNAJC5 | chr20 | 62565964 | - | MED1 | chr17 | 37563951 | - |
* 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 |
intron-intron | ENST00000369911 | ENST00000394287 | DNAJC5 | chr20 | 62565964 | - | MED1 | chr17 | 37563951 | - |
intron-intron | ENST00000369911 | ENST00000300651 | DNAJC5 | chr20 | 62565964 | - | MED1 | chr17 | 37563951 | - |
3UTR-intron | ENST00000360864 | ENST00000394287 | DNAJC5 | chr20 | 62565964 | - | MED1 | chr17 | 37563951 | - |
3UTR-intron | ENST00000360864 | ENST00000300651 | DNAJC5 | chr20 | 62565964 | - | MED1 | chr17 | 37563951 | - |
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FusionProtFeatures for DNAJC5_MED1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DNAJC5 | MED1 |
Acts as a general chaperone in regulated exocytosis (Bysimilarity). Acts as a co-chaperone for the SNARE protein SNAP-25(By similarity). Involved in the calcium-mediated control of alate stage of exocytosis (By similarity). May have an importantrole in presynaptic function. May be involved in calcium-dependentneurotransmitter release at nerve endings (By similarity).{ECO:0000250|UniProtKB:P60904, ECO:0000250|UniProtKB:Q29455}. | Component of the Mediator complex, a coactivatorinvolved in the regulated transcription of nearly all RNApolymerase II-dependent genes. Mediator functions as a bridge toconvey information from gene-specific regulatory proteins to thebasal RNA polymerase II transcription machinery. Mediator isrecruited to promoters by direct interactions with regulatoryproteins and serves as a scaffold for the assembly of a functionalpreinitiation complex with RNA polymerase II and the generaltranscription factors (PubMed:10406464, PubMed:11867769,PubMed:12037571, PubMed:12218053, PubMed:12556447,PubMed:14636573, PubMed:15340084, PubMed:15471764,PubMed:15989967, PubMed:16574658, PubMed:9653119). Acts as acoactivator for GATA1-mediated transcriptional activation duringerythroid differentiation of K562 erythroleukemia cells(PubMed:24245781). {ECO:0000269|PubMed:10406464,ECO:0000269|PubMed:11867769, ECO:0000269|PubMed:12037571,ECO:0000269|PubMed:12218053, ECO:0000269|PubMed:12556447,ECO:0000269|PubMed:14636573, ECO:0000269|PubMed:15340084,ECO:0000269|PubMed:15471764, ECO:0000269|PubMed:15989967,ECO:0000269|PubMed:16574658, ECO:0000269|PubMed:24245781,ECO:0000269|PubMed:9653119}. |
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 DNAJC5_MED1 |
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 DNAJC5_MED1 |
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 |
- 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 DNAJC5_MED1 |
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 DNAJC5_MED1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DNAJC5 | C1834207 | Ceroid Lipofuscinosis, Neuronal, Parry Type | 1 | ORPHANET;UNIPROT |
Tgene | MED1 | C0014175 | Endometriosis | 1 | CTD_human |
Tgene | MED1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | MED1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |