|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 38367 |
FusionGeneSummary for TMEM117_COL25A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM117_COL25A1 | Fusion gene ID: 38367 | Hgene | Tgene | Gene symbol | TMEM117 | COL25A1 | Gene ID | 84216 | 84570 |
| Gene name | transmembrane protein 117 | collagen type XXV alpha 1 chain | |
| Synonyms | - | AMY|CFEOM5|CLAC|CLAC-P|CLACP | |
| Cytomap | 12q12 | 4q25 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane protein 117 | collagen alpha-1(XXV) chainalzheimer disease amyloid-associated proteincollagen-like Alzheimer amyloid plaque componentcollagenous Alzheimer amyloid plaque component | |
| Modification date | 20180329 | 20180523 | |
| UniProtAcc | Q9H0C3 | Q9BXS0 | |
| Ensembl transtripts involved in fusion gene | ENST00000551577, ENST00000266534, ENST00000536799, ENST00000546978, | ENST00000399132, ENST00000399127, ENST00000399126, | |
| Fusion gene scores | * DoF score | 11 X 6 X 7=462 | 3 X 3 X 3=27 |
| # samples | 11 | 3 | |
| ** MAII score | log2(11/462*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TMEM117 [Title/Abstract] AND COL25A1 [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 | SKCM | TCGA-EE-A20I-06A | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| * 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 | ENST00000551577 | ENST00000399132 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| 5CDS-intron | ENST00000551577 | ENST00000399127 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| 5CDS-intron | ENST00000551577 | ENST00000399126 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| Frame-shift | ENST00000266534 | ENST00000399132 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| 5CDS-intron | ENST00000266534 | ENST00000399127 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| 5CDS-intron | ENST00000266534 | ENST00000399126 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| In-frame | ENST00000536799 | ENST00000399132 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| 5CDS-intron | ENST00000536799 | ENST00000399127 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| 5CDS-intron | ENST00000536799 | ENST00000399126 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| intron-3CDS | ENST00000546978 | ENST00000399132 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| intron-intron | ENST00000546978 | ENST00000399127 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
| intron-intron | ENST00000546978 | ENST00000399126 | TMEM117 | chr12 | 44338145 | + | COL25A1 | chr4 | 109862593 | - |
Top |
FusionProtFeatures for TMEM117_COL25A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMEM117 | COL25A1 |
| Involved in endoplasmic reticulum (ER) stress-inducedcell death pathway. {ECO:0000269|PubMed:28285135}. | Inhibits fibrillization of amyloid-beta peptide duringthe elongation phase. Has also been shown to assemble amyloidfibrils into protease-resistant aggregates. Binds heparin.{ECO:0000269|PubMed:15522881, ECO:0000269|PubMed:15615705,ECO:0000269|PubMed:15853808, ECO:0000269|PubMed:16300410}. |
| 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 TMEM117_COL25A1 |
| 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. |
| >In-frame_TMEM117_ENST00000536799_chr12_44338145_+_COL25A1_ENST00000399132_chr4_109862593_-_557aa MATCHSHRTNSWQISVPSAFVWSVAPIKNVSRRSWVVDDNVLQHNSLSLHIFSHIQHDSSNGWEHGMVFPKINHGFLSADQQLIKRRLIK GDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLGPPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPK GEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESGRPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAG PPGRGERGEPGAPGPKGKQGESGTRGPKGSKGDRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQG LQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGL PGPKGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPGPRGEKGDLGEKGEKGFRGVKGEKGEPGQPGLDGLDAP |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TMEM117_ENST00000536799_chr12_44338145_+_COL25A1_ENST00000399132_chr4_109862593_-_1671nt ATGGCTACTTGCCATTCTCACAGGACTAATAGCTGGCAAATTTCTGTTCCATCAGCGTTTGTTTGGTCAGTTGCTCCGATTAAAAATGTT TCGAGAAGATCATGGGTCGTGGATGACAATGTTCTTCAGCACAATTCTCTTTCTCTTCATATTTTCTCACATATACAACACGATTCTTCT AATGGATGGGAACATGGGATGGTGTTTCCTAAAATCAATCATGGGTTTCTCTCTGCTGATCAGCAGCTCATTAAACGCCGCCTGATTAAG GGTGACCAAGGACAGGCAGGGCCTCCAGGACCCCCTGGCCCTCCAGGCCCAAGAGGGCCACCTGGGGACACAGGGAAAGATGGCCCCCGT GGAATGCCAGGAGTACCCGGTGAACCAGGAAAGCCAGGAGAACAAGGCTTGATGGGTCCTCTAGGGCCTCCGGGACAAAAGGGTTCTATT GGAGCACCTGGAATTCCAGGGATGAATGGGCAAAAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAG GGAGAACCTGGAGAACAAGGTGAAAAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGGTGACCCTGGATCATCT GCTGCAGGAATTAAGGGAGAACCTGGGGAATCTGGTCGTCCAGGGCAAAAGGGTGAACCAGGGCTTCCTGGGCTTCCTGGACTTCCGGGG ATAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGGTGAACGGGGGGAAGCAGGG CCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGGGAAACAAGGTGAATCAGGAACTAGAGGCCCAAAGGGGTCA AAGGGGGATCGTGGAGAAAAAGGGGACTCTGGAGCTCAGGGACCAAGGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATC ATAGACTACAACGGCAACCTCCACGAAGCCTTACAGAGGATTACCACCTTAACTGTCACGGGTCCCCCTGGACCTCCTGGACCTCAAGGA CTACAAGGGCCAAAGGGAGAGCAGGGATCTCCAGGAATCCCAGGAATGGATGGAGAGCAGGGACTCAAAGGCTCAAAGGGAGACATGGGG GACCCAGGTATGACAGGTGAAAAAGGAGGAATTGGACTTCCTGGATTACCGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGA ATGCCGGGTCCACAGGGTCCTTCTATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGGACCTCATGGACTT CCTGGACCAAAGGGTACAGATGGTCCTATGGGACCCCATGGCCCTGCAGGTCCCAAAGGAGAAAGAGGTGAAAAAGGAGCTATGGGAGAG CCTGGACCAAGAGGGCCCTATGGGCTGCCTGGGAAAGATGGAGAGCCTGGTCTTGATGGCTTCCCTGGTCCACGGGGTGAGAAGGGTGAT CTAGGAGAAAAGGGAGAAAAGGGATTCCGTGGCGTTAAGGGGGAAAAAGGGGAGCCAGGCCAGCCTGGCCTGGATGGGCTGGATGCCCCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TMEM117_ENST00000536799_chr12_44338145_+_COL25A1_ENST00000399132_chr4_109862593_-_1899nt ATGGCTACTTGCCATTCTCACAGGACTAATAGCTGGCAAATTTCTGTTCCATCAGCGTTTGTTTGGTCAGTTGCTCCGATTAAAAATGTT TCGAGAAGATCATGGGTCGTGGATGACAATGTTCTTCAGCACAATTCTCTTTCTCTTCATATTTTCTCACATATACAACACGATTCTTCT AATGGATGGGAACATGGGATGGTGTTTCCTAAAATCAATCATGGGTTTCTCTCTGCTGATCAGCAGCTCATTAAACGCCGCCTGATTAAG GGTGACCAAGGACAGGCAGGGCCTCCAGGACCCCCTGGCCCTCCAGGCCCAAGAGGGCCACCTGGGGACACAGGGAAAGATGGCCCCCGT GGAATGCCAGGAGTACCCGGTGAACCAGGAAAGCCAGGAGAACAAGGCTTGATGGGTCCTCTAGGGCCTCCGGGACAAAAGGGTTCTATT GGAGCACCTGGAATTCCAGGGATGAATGGGCAAAAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAG GGAGAACCTGGAGAACAAGGTGAAAAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGGTGACCCTGGATCATCT GCTGCAGGAATTAAGGGAGAACCTGGGGAATCTGGTCGTCCAGGGCAAAAGGGTGAACCAGGGCTTCCTGGGCTTCCTGGACTTCCGGGG ATAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGGTGAACGGGGGGAAGCAGGG CCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGGGAAACAAGGTGAATCAGGAACTAGAGGCCCAAAGGGGTCA AAGGGGGATCGTGGAGAAAAAGGGGACTCTGGAGCTCAGGGACCAAGGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATC ATAGACTACAACGGCAACCTCCACGAAGCCTTACAGAGGATTACCACCTTAACTGTCACGGGTCCCCCTGGACCTCCTGGACCTCAAGGA CTACAAGGGCCAAAGGGAGAGCAGGGATCTCCAGGAATCCCAGGAATGGATGGAGAGCAGGGACTCAAAGGCTCAAAGGGAGACATGGGG GACCCAGGTATGACAGGTGAAAAAGGAGGAATTGGACTTCCTGGATTACCGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGA ATGCCGGGTCCACAGGGTCCTTCTATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGGACCTCATGGACTT CCTGGACCAAAGGGTACAGATGGTCCTATGGGACCCCATGGCCCTGCAGGTCCCAAAGGAGAAAGAGGTGAAAAAGGAGCTATGGGAGAG CCTGGACCAAGAGGGCCCTATGGGCTGCCTGGGAAAGATGGAGAGCCTGGTCTTGATGGCTTCCCTGGTCCACGGGGTGAGAAGGGTGAT CTAGGAGAAAAGGGAGAAAAGGGATTCCGTGGCGTTAAGGGGGAAAAAGGGGAGCCAGGCCAGCCTGGCCTGGATGGGCTGGATGCCCCT TGCCAATTGGGGCCAGATGGCTTACCCATGCCTGGCTGTTGGCAAAAGTGATGAATCTAACCTTTCAAGCATGAAGTTGTGTATATAAGG GTCCATTTTTAATATTTATAGTTGAAAACTGAATTGCAGATTTTACAAGTCTGAGATATGTTTACATAGGGCTGCTTCTTCCTGCTGGCA GTAGTATACATGTCCATTTTTACTCCACTTACATCTGAAATTGGGCAATTTGTGAAACCAGTGAGAATCCTGCAAAAAATATAGATCAGT |
Top |
FusionGenePPI for TMEM117_COL25A1 |
| 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 |
| TMEM117 | COL25A1 | APP, COL25A1, PLOD1 |
| - 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 TMEM117_COL25A1 |
| 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 TMEM117_COL25A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TMEM117 | C0008370 | Cholestasis | 1 | CTD_human |
| Hgene | TMEM117 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Tgene | COL25A1 | C4015552 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|