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Fusion gene ID: 38677 |
FusionGeneSummary for TMEM64_HHLA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM64_HHLA1 | Fusion gene ID: 38677 | Hgene | Tgene | Gene symbol | TMEM64 | HHLA1 | Gene ID | 169200 | 10086 |
| Gene name | transmembrane protein 64 | HERV-H LTR-associating 1 | |
| Synonyms | - | PLA2L | |
| Cytomap | 8q21.3 | 8q24.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane protein 64 | HERV-H LTR-associating protein 1 | |
| Modification date | 20180519 | 20180329 | |
| UniProtAcc | Q6YI46 | C9JL84 | |
| Ensembl transtripts involved in fusion gene | ENST00000519519, ENST00000418210, ENST00000458549, ENST00000523902, | ENST00000414222, ENST00000434736, | |
| Fusion gene scores | * DoF score | 5 X 3 X 3=45 | 3 X 3 X 1=9 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/45*10)=-0.169925001442312 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TMEM64 [Title/Abstract] AND HHLA1 [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 | LUAD | TCGA-62-A46S-01A | TMEM64 | chr8 | 91657339 | - | HHLA1 | chr8 | 133078215 | - |
| * 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 | ENST00000519519 | ENST00000414222 | TMEM64 | chr8 | 91657339 | - | HHLA1 | chr8 | 133078215 | - |
| intron-intron | ENST00000519519 | ENST00000434736 | TMEM64 | chr8 | 91657339 | - | HHLA1 | chr8 | 133078215 | - |
| Frame-shift | ENST00000418210 | ENST00000414222 | TMEM64 | chr8 | 91657339 | - | HHLA1 | chr8 | 133078215 | - |
| 5CDS-intron | ENST00000418210 | ENST00000434736 | TMEM64 | chr8 | 91657339 | - | HHLA1 | chr8 | 133078215 | - |
| Frame-shift | ENST00000458549 | ENST00000414222 | TMEM64 | chr8 | 91657339 | - | HHLA1 | chr8 | 133078215 | - |
| 5CDS-intron | ENST00000458549 | ENST00000434736 | TMEM64 | chr8 | 91657339 | - | HHLA1 | chr8 | 133078215 | - |
| intron-3CDS | ENST00000523902 | ENST00000414222 | TMEM64 | chr8 | 91657339 | - | HHLA1 | chr8 | 133078215 | - |
| intron-intron | ENST00000523902 | ENST00000434736 | TMEM64 | chr8 | 91657339 | - | HHLA1 | chr8 | 133078215 | - |
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FusionProtFeatures for TMEM64_HHLA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMEM64 | HHLA1 |
| Positively regulates TNFSF11-induced osteoclastdifferentiation. Acts as a regulator of TNFSF11-mediated Ca(2+)signaling pathways via its interaction with SERCA2 which iscritical for the TNFSF11-induced CREB1 activation andmitochondrial ROS generation necessary for proper osteoclastgeneration. Association between TMEM64 and SERCA2 in the ER leadsto cytosolic Ca (2+) spiking for activation of NFATC1 andproduction of mitochondrial ROS, thereby triggering Ca (2+)signaling cascades that promote osteoclast differentiation andactivation. Negatively regulates osteoblast differentiation andpositively regulates adipocyte differentiation via modulation ofthe canonical Wnt signaling pathway. Mediates the switch inlineage commitment to osteogenesis rather than to adipogenesis inmesenchymal stem cells by negatively regulating the expression,activity and nuclear localization of CTNNB1.{ECO:0000250|UniProtKB:Q3U145}. |
| 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 TMEM64_HHLA1 |
| 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 TMEM64_HHLA1 |
| 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 |
| TMEM64 | AGO2 | HHLA1 |
| - 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 TMEM64_HHLA1 |
| 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 TMEM64_HHLA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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