|
Fusion gene ID: 3168 |
FusionGeneSummary for ATG14_MED6 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ATG14_MED6 | Fusion gene ID: 3168 | Hgene | Tgene | Gene symbol | ATG14 | MED6 | Gene ID | 22863 | 10001 |
Gene name | autophagy related 14 | mediator complex subunit 6 | |
Synonyms | ATG14L|BARKOR|KIAA0831 | ARC33|NY-REN-28 | |
Cytomap | 14q22.3 | 14q24.2 | |
Type of gene | protein-coding | protein-coding | |
Description | beclin 1-associated autophagy-related key regulatorATG14 autophagy related 14 homologBeclin 1-Interacting proteinautophagy-related protein 14-like protein | mediator of RNA polymerase II transcription subunit 6CTD-2540L5.5activator-recruited cofactor 33 kDa componentrenal carcinoma antigen NY-REN-28 | |
Modification date | 20180523 | 20180525 | |
UniProtAcc | Q6ZNE5 | O75586 | |
Ensembl transtripts involved in fusion gene | ENST00000247178, | ENST00000554963, ENST00000256379, ENST00000430055, ENST00000440435, ENST00000556044, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
# samples | 2 | 2 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: ATG14 [Title/Abstract] AND MED6 [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 | ATG14 | GO:0016240 | autophagosome membrane docking | 25686604 |
Hgene | ATG14 | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 21062745 |
Tgene | MED6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12037571 |
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 | BLCA | TCGA-XF-AAMW-01A | ATG14 | chr14 | 55852577 | - | MED6 | chr14 | 71051660 | - |
* 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 | ENST00000247178 | ENST00000554963 | ATG14 | chr14 | 55852577 | - | MED6 | chr14 | 71051660 | - |
Frame-shift | ENST00000247178 | ENST00000256379 | ATG14 | chr14 | 55852577 | - | MED6 | chr14 | 71051660 | - |
Frame-shift | ENST00000247178 | ENST00000430055 | ATG14 | chr14 | 55852577 | - | MED6 | chr14 | 71051660 | - |
Frame-shift | ENST00000247178 | ENST00000440435 | ATG14 | chr14 | 55852577 | - | MED6 | chr14 | 71051660 | - |
5CDS-intron | ENST00000247178 | ENST00000556044 | ATG14 | chr14 | 55852577 | - | MED6 | chr14 | 71051660 | - |
Top |
FusionProtFeatures for ATG14_MED6 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ATG14 | MED6 |
Required for both basal and inducible autophagy.Determines the localization of the autophagy-specific PI3-kinasecomplex PI3KC3-C1 (PubMed:18843052, PubMed:19050071). Plays a rolein autophagosome formation and MAP1LC3/LC3 conjugation tophosphatidylethanolamine (PubMed:19270696, PubMed:20713597).Promotes BECN1 translocation from the trans-Golgi network toautophagosomes (PubMed:20713597). Enhances PIK3C3 activity in aBECN1-dependent manner. Essential for the autophagy-dependentphosphorylation of BECN1 (PubMed:23878393). Stimulates thephosphorylation of BECN1, but suppresses the phosphorylationPIK3C3 by AMPK (PubMed:23878393). Binds to STX17-SNAP29 binary t-SNARE complex on autophagosomes and primes it for VAMP8interaction to promote autophagosome-endolysosome fusion(PubMed:25686604). Modulates the hepatic lipid metabolism (Bysimilarity). {ECO:0000250|UniProtKB:Q8CDJ3,ECO:0000269|PubMed:18843052, ECO:0000269|PubMed:19050071,ECO:0000269|PubMed:19270696, ECO:0000269|PubMed:20713597,ECO:0000269|PubMed:23878393, ECO:0000269|PubMed:25686604}. |
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 ATG14_MED6 |
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 ATG14_MED6 |
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 |
ATG14 | BECN1, PIK3C3, PIK3R4, NRBF2, ELAVL1, EXOC1, EXOC8, EXOC2, RALB, DACT1, RNF2, CHAF1A, USP18, IRGM, DVL2, LRRC58, RAD50, CETN2, MAP4K4, MTFR1, PDLIM5, PCM1 | MED6 | MED10, MED9, MED29, MED19, MED28, MED26, MED25, MED15, CDK8, MED30, MED21, MED14, THRA, VDR, ESR1, ESR2, MED1, EHMT2, PARP1, SMAD1, SMAD2, SMAD3, RARA, SREBF1, MED12, MED18, ZC3H13, OBFC1, TADA2A, CTDP1, SKP1, CUL1, SMARCA4, BCL6, SUZ12, MED4, MED11, MED7, FBXW7, MED23, CCNC, CDK19, TARDBP, MED16, MED17, MED24, MED27, MED13, MED13L, MED20, MED8, CSNK2A2, EGR1, POLR2G, KIF15, BIRC5 |
- 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 ATG14_MED6 |
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 ATG14_MED6 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |