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Fusion gene ID: 16059 |
FusionGeneSummary for HEG1_AKAP8L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HEG1_AKAP8L | Fusion gene ID: 16059 | Hgene | Tgene | Gene symbol | HEG1 | AKAP8L | Gene ID | 57493 | 26993 |
| Gene name | heart development protein with EGF like domains 1 | A-kinase anchoring protein 8 like | |
| Synonyms | HEG|MST112|MSTP112 | HA95|HAP95|NAKAP|NAKAP95 | |
| Cytomap | 3q21.2 | 19p13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein HEG homolog 1HEG homolog 1heart of glass | A-kinase anchor protein 8-likeA kinase (PRKA) anchor protein 8-likeAKAP8-like proteinhelicase A-binding protein 95 kDahomologous to AKAP95 proteinneighbor of A-kinase anchoring protein 95neighbor of AKAP95testis tissue sperm-binding protein Li 90mP | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9ULI3 | Q9ULX6 | |
| Ensembl transtripts involved in fusion gene | ENST00000311127, ENST00000477536, | ENST00000397410, ENST00000595465, ENST00000595879, | |
| Fusion gene scores | * DoF score | 4 X 5 X 6=120 | 6 X 4 X 7=168 |
| # samples | 7 | 7 | |
| ** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HEG1 [Title/Abstract] AND AKAP8L [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 |
| Tgene | AKAP8L | GO:0006397 | mRNA processing | 17594903 |
| Tgene | AKAP8L | GO:0010793 | regulation of mRNA export from nucleus | 11402034 |
| Tgene | AKAP8L | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11884601 |
| 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 | BF993001 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| * 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-3CDS | ENST00000311127 | ENST00000397410 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| intron-3CDS | ENST00000311127 | ENST00000595465 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| intron-5UTR | ENST00000311127 | ENST00000595879 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| intron-3CDS | ENST00000477536 | ENST00000397410 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| intron-3CDS | ENST00000477536 | ENST00000595465 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| intron-5UTR | ENST00000477536 | ENST00000595879 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
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FusionProtFeatures for HEG1_AKAP8L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HEG1 | AKAP8L |
| Receptor component of the CCM signaling pathway which isa crucial regulator of heart and vessel formation and integrityMay act through the stabilization of endothelial cell junctions.{ECO:0000250}. | Could play a role in constitutive transport element(CTE)-mediated gene expression by association with DHX9. IncreasesCTE-dependent nuclear unspliced mRNA export (PubMed:10748171,PubMed:11402034). Proposed to target PRKACA to the nucleus butdoes not seem to be implicated in the binding of regulatorysubunit II of PKA (PubMed:10761695, PubMed:11884601). May beinvolved in nuclear envelope breakdown and chromatin condensation.May be involved in anchoring nuclear membranes to chromatin ininterphase and in releasing membranes from chromating at mitosis(PubMed:11034899). May regulate the initiation phase of DNAreplication when associated with TMPO isoform Beta(PubMed:12538639). Required for cell cycle G2/M transition andhistone deacetylation during mitosis. In mitotic cells recruitsHDAC3 to the vicinity of chromatin leading to deacetylation andsubsequent phosphorylation at 'Ser-10' of histone H3; in thisfunction seems to act redundantly with AKAP8 (PubMed:16980585).May be involved in regulation of pre-mRNA splicing(PubMed:17594903). {ECO:0000269|PubMed:10748171,ECO:0000269|PubMed:11034899, ECO:0000269|PubMed:11402034,ECO:0000269|PubMed:11884601, ECO:0000269|PubMed:12538639,ECO:0000269|PubMed:16980585, ECO:0000305|PubMed:10761695}. (Microbial infection) In case of EBV infection, maytarget PRKACA to EBNA-LP-containing nuclear sites to modulatetranscription from specific promoters.{ECO:0000269|PubMed:11884601}. (Microbial infection) Can synergize with DHX9 toactivate the CTE-mediated gene expression of type D retroviruses.{ECO:0000269|PubMed:11402034}. (Microbial infection) In case of HIV-1 infection,involved in the DHX9-promoted annealing of host tRNA(Lys3) toviral genomic RNA as a primer in reverse transcription; in vitronegatively regulates DHX9 annealing activity.{ECO:0000269|PubMed:25034436}. |
| 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 HEG1_AKAP8L |
| 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 HEG1_AKAP8L |
| 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 HEG1_AKAP8L |
| 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 HEG1_AKAP8L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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