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Fusion gene ID: 38389 |
FusionGeneSummary for TMEM123_CENPP |
Fusion gene summary |
Fusion gene information | Fusion gene name: TMEM123_CENPP | Fusion gene ID: 38389 | Hgene | Tgene | Gene symbol | TMEM123 | CENPP | Gene ID | 114908 | 401541 |
Gene name | transmembrane protein 123 | centromere protein P | |
Synonyms | KCT3|PORIMIN|PORMIN | CENP-P | |
Cytomap | 11q22.2 | 9q22.31 | |
Type of gene | protein-coding | protein-coding | |
Description | poriminKCT-3keratinocytes associated transmembrane protein 3pro-oncosis receptor inducing membrane injuryserine/threonine-rich receptor | centromere protein P | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q8N131 | Q6IPU0 | |
Ensembl transtripts involved in fusion gene | ENST00000361236, ENST00000398136, ENST00000532161, ENST00000525577, | ENST00000375587, ENST00000375579, ENST00000375576, | |
Fusion gene scores | * DoF score | 7 X 3 X 8=168 | 7 X 6 X 6=252 |
# samples | 9 | 11 | |
** MAII score | log2(9/168*10)=-0.900464326449086 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/252*10)=-1.19592020997526 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TMEM123 [Title/Abstract] AND CENPP [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 | TMEM123 | GO:0070267 | oncosis | 9600958|11481458 |
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 | BLCA | TCGA-E7-A7DV-01A | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
* 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 | ENST00000361236 | ENST00000375587 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
intron-3CDS | ENST00000361236 | ENST00000375579 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
intron-3CDS | ENST00000361236 | ENST00000375576 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
Frame-shift | ENST00000398136 | ENST00000375587 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
Frame-shift | ENST00000398136 | ENST00000375579 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
In-frame | ENST00000398136 | ENST00000375576 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
5UTR-3CDS | ENST00000532161 | ENST00000375587 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
5UTR-3CDS | ENST00000532161 | ENST00000375579 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
5UTR-3CDS | ENST00000532161 | ENST00000375576 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
5UTR-3CDS | ENST00000525577 | ENST00000375587 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
5UTR-3CDS | ENST00000525577 | ENST00000375579 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
5UTR-3CDS | ENST00000525577 | ENST00000375576 | TMEM123 | chr11 | 102319543 | - | CENPP | chr9 | 95373596 | + |
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FusionProtFeatures for TMEM123_CENPP |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TMEM123 | CENPP |
Implicated in oncotic cell death, characterized by cellswelling, organelle swelling, vacuolization and increased membranepermeability. {ECO:0000269|PubMed:11481458}. | Component of the CENPA-CAD (nucleosome distal) complex,a complex recruited to centromeres which is involved in assemblyof kinetochore proteins, mitotic progression and chromosomesegregation. May be involved in incorporation of newly synthesizedCENPA into centromeres via its interaction with the CENPA-NACcomplex. {ECO:0000269|PubMed:16622420}. |
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 TMEM123_CENPP |
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_TMEM123_ENST00000398136_chr11_102319543_-_CENPP_ENST00000375576_chr9_95373596_+_410aa MGLGARGAWAALLLGTLQVLALLGAAHESAAMAASANIENSGLPHNSSANSTGIFIAHGGNQTLPEPQAXKSVRFHLISLLLGGGFXPXN AVSSXSXLSPRXALSLTAVGAAPPLGTVRIPGWAPAHAQDGVWAGHHWGESXGRTGEGRPGSATALTEPQLKGLFRSDAKTVRKQLLSSK EPDASAWGILXPVLSRPSGLXQTRADQGAIPDGKGVGKPVKXEYSCREVMYNVHDGEAAVMGAWRLWRDLQWGGRVXQQGQEGRLAPMDA AQTLGPXFSPDTWNGAPCPSHGPFLPTSGSVYPFLLPMQEKYPDAVYLSEGPSSCSMGIRSASRPGFELVIVWRIQIDEDGKVFPKLDLL |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_TMEM123_ENST00000398136_chr11_102319543_-_CENPP_ENST00000375576_chr9_95373596_+_1230nt ATGGGACTCGGCGCGCGAGGTGCTTGGGCCGCGCTGCTCCTGGGGACGCTGCAGGTGCTAGCGCTGCTGGGGGCCGCCCATGAAAGCGCA GCCATGGCGGCATCTGCAAACATAGAGAATTCTGGGCTTCCACACAACTCCAGTGCTAACTCAACAGGAATTTTCATAGCGCATGGGGGA AACCAGACTCTCCCAGAACCGCAAGCCTAGAAATCTGTGAGATTCCACTTGATTTCCCTGCTTTTGGGAGGAGGCTTTTGACCATAAAAT GCCGTCTCATCATGAAGCTGACTTTCACCAAGGTAGGCCCTTTCCCTTACTGCAGTGGGAGCCGCACCACCACTGGGCACAGTGAGGATA CCAGGGTGGGCTCCTGCCCATGCCCAGGACGGTGTGTGGGCTGGACACCACTGGGGTGAGTCCTGAGGACGGACAGGCGAGGGGCGTCCA GGCTCGGCCACAGCCCTCACGGAGCCTCAGCTCAAAGGGCTTTTCAGGTCAGATGCTAAAACCGTGAGAAAACAGCTGCTTTCCAGCAAA GAGCCTGACGCATCCGCTTGGGGAATCCTCTGACCAGTCCTCTCCAGACCGTCTGGGTTGTGACAGACAAGGGCAGACCAAGGAGCCATC CCAGATGGAAAGGGTGTGGGGAAACCTGTGAAATGAGAATACAGCTGTAGGGAGGTTATGTACAATGTTCATGATGGGGAAGCAGCAGTC ATGGGAGCCTGGAGGCTGTGGAGAGACCTACAGTGGGGCGGACGTGTGTGACAGCAAGGGCAAGAGGGGCGGTTGGCACCCATGGATGCT GCGCAAACACTCGGACCCTGATTTTCGCCAGACACCTGGAACGGTGCCCCGTGCCCCTCCCATGGCCCCTTTCTCCCCACCAGTGGATCT GTCTACCCGTTTCTTCTCCCCATGCAGGAAAAGTACCCAGATGCCGTGTACCTCTCGGAGGGGCCCTCCTCCTGCTCCATGGGGATCCGC AGCGCCAGCCGGCCAGGGTTTGAATTAGTCATTGTTTGGAGGATACAAATAGATGAAGATGGGAAGGTTTTTCCAAAGCTGGATCTTCTC ACCAAAGTCCCACAGCGAGCCCTGGAGCTGGACAAGAACAGAGCCATAGAAACTGCTCCTCTCAGCTTCCGAACCCTGGTAGGACTGCTT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_TMEM123_ENST00000398136_chr11_102319543_-_CENPP_ENST00000375576_chr9_95373596_+_2895nt AAAGGCTTCCTTCCGGGCACCGCGAAGCCAGCGTGCTCAGCATTCAGGGAGGCAGCGGCGCTCGCCTTCATCCAGGACAACAAAACTGCC ATTTCCGAAGAGAAAGGAAACGGCTCGCGGTTTCTGGGGTTCCCAAGCGCGCGCCTGCGAGGGAGGCCGCGAGCCGAGTCGCCACGCCCA GAACCCCGAGCCCGCCCCCGCGCCACCCAGCCCGGCCCCGCCGCCCCGGCTGCGCACGCGACGCCCCCTCCAGGCCCCGCTCCTGCGCCC TATTTGGTCATTCGGGGGGCAAGCGGCGGGAGGGGAAACGTGCGCGGCCGAAGGGGAAGCGGAGCCGGCGCCGGCTGCGCAGAGGAGCCG CTCTCGCCGCCGCCACCTCGGCTGGGAGCCCACGAGGCTGCCGCATCCTGCCCTCGGAACAATGGGACTCGGCGCGCGAGGTGCTTGGGC CGCGCTGCTCCTGGGGACGCTGCAGGTGCTAGCGCTGCTGGGGGCCGCCCATGAAAGCGCAGCCATGGCGGCATCTGCAAACATAGAGAA TTCTGGGCTTCCACACAACTCCAGTGCTAACTCAACAGAAAAGTACCCAGATGCCGTGTACCTCTCGGAGGGGCCCTCCTCCTGCTCCAT GGGGATCCGCAGCGCCAGCCGGCCAGGGTTTGAATTAGTCATTGTTTGGAGGATACAAATAGATGAAGATGGGAAGGTTTTTCCAAAGCT GGATCTTCTCACCAAAGTCCCACAGCGAGCCCTGGAGCTGGACAAGAACAGAGCCATAGAAACTGCTCCTCTCAGCTTCCGAACCCTGGT AGGACTGCTTGGAATCGAAGCTGCTCTGGAAAGCCTGATAAAATCGCTTTGTGCAGAGGAGAACAACTAGTTCCAAAACAGTGAACGTGG AGGATGAAGATGCTGCGTGGAGGAACATGCAATTTTATTCAATATAAACATTTGCTATTTTCTGCTTAGAAACCACACCCTGAAGACGTG CTGTCTATGCAGTTATGGCACATTATATGGAAACTCTCATGACATGAAAAATAAATACAACTAGTTAAGTATAAAATGCCAAATAAAAGT GACACGTACAATGTGGTTTATAAAAATAAGCTTAACATCTGAGAAAATGTACCAAGTGGTTGTGTGTCCTCAGATGTGTGGGGAGGATCC ATCCCCCACCCACTGCAGCCTCACACCGAGTCCACCTTGGACATGGTGGCCACATTACTCAGCTGGGAGAAGCCACCCTTATCCTGGTTC CTGCCTCCTGGGGGCTCTGGAGACGGATGCCTATGGCGCCTCATCTTTAAACTGTCCTTAGTAGCCCAGGGGAGCCACACCCTCACTCCC TGCCTCCCCCCGGTCCGCATGGTGGCACCGTGAGGCAGTCTCAGCAAGTCCTCATGCTGTTCTTGGTCTTCCACAAGAAAGTGAAGCTGT CAGCTTAATAACAAGAATGGCCTAAGACAGCAAAGACAGCACTGTTCCTGGGCTGGGACGCAAGGAATGAGGTCCTTTATGAAAGAAAGA CCCCCCTGCATAGCCTAAGTGCTATATCGATCGTCCCGGATGTGCCTTAAGAACCGTGACCTCATCAGTCGCCCATTTAGCATTGTTAAG ATCTGTGAACGCGTGTTGTCTCAAACCAGTCAGGGCCGTCATGACTACGCAGCAGCAGCAGTTTCCAAGACGGGCCAGAAACGCATCCAC AGCAGTGGCACCCGCGGCTCAGGGGCTCCTCACAGCCCGGGCTGGTGGGAGCCAAGACCAGACAGAGTGGGGGTCTCCATCTGTTTTCTC TTCTCCCTCAAATACAGGCTGTTTTCATCGTGTCTAGTCCAGCCCTGTCTGGGCCCTGTGCTAGGCAATAACTCTTGCAGCCCTGAAGGA CCTAGGGAGCCCAGCCCACCTTCCCACGGACTGGGGTTCCCTCACATGTGCACTTGAACCCAGGACCCAGCATCCTCCACACACCGTGAC AATGGGCAAAATCATCCCAAACCAGGCTGCCCCAGCCCCAGCCCAGCAACAGTGAACTCCCTTGGGTCAAGACAGTACTCAACGGCCACT ACCTCCACGCTTCCCAGAGCCTGCGGCTTGTCCGTGAGCTCCGTGCACTTCACCAAAGCCCCCATCCCAGCACACAGGACCCGTGTGTAT GAGACGGTGTCATTGGAAGTGAGAAGAAAACAGTAAAAGTGTCCAGTTAGATAAGTATCTTTTTGCACCTCTGAGAGTAGAATTAGAAGT AAATATGACAGAATTGAACAATAAATTCTAGAAGAGTTGCCTTGATTCAAACAAGTATAATTCTCAAGTTATCACAAAATTTCCCACAAA AATTTACAATCAGCAAAATAGTTTCCTTATTTCTCATGTATCATTTTCATATAATTCCATGGTTTCACTAATATTATATGTTACAATAAG CCTCCATTAGTCCCTCAAAACGATGATATAAATAAGTCTGTACAACCTAGCATAGAATAAAAAACTGAAACCAAGATTCCCAACGTTTTT CATAGCAGCCGGGCACACTTTGGTGACCCCAACGAGAACCCTCTCGGCAGCAGCCAGGAGCTGTTCACCTTCCAGAAGCAGGGCCTGTGG CAGCCTAACAGGGAGAGGCCACGGGGCCCAAAAACGCAACACGTCTCAAGGCAAACCCGAGGGAGGAACTTGGTCTGGGAGGAAGAGAGA ACTCGCTCCTCAACCACCCCAGACACTGGAGTGTCAGGAAAGCACTGAGCTGTTGGGGCACACTGCCCAGCCCGGCCACAGCAGCTCAGC CAGTCACAGCTCCACCTCCAACTTCTACAGCAGCAATTTTTAGTGGGAAAGAACAGCTCATCTCCCCCTCATGTGAAAGATTAAATTGTA |
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FusionGenePPI for TMEM123_CENPP |
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 |
TMEM123 | MAGEA11, ELAVL1, WDFY1 | CENPP | CENPU, CENPO, CENPH, CENPI, CENPQ, ITGB3BP, CENPM, CENPN, GOLGA2, NHLH1, RPIA, TEX11, CCDC33, USHBP1, ZNF341, KLC3, INA, PEX19, LMNA |
- 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 TMEM123_CENPP |
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 TMEM123_CENPP |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |