|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 33058 |
FusionGeneSummary for SEC24D_PLRG1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEC24D_PLRG1 | Fusion gene ID: 33058 | Hgene | Tgene | Gene symbol | SEC24D | PLRG1 | Gene ID | 9871 | 5356 |
| Gene name | SEC24 homolog D, COPII coat complex component | pleiotropic regulator 1 | |
| Synonyms | CLCRP2 | Cwc1|PRL1|PRP46|PRPF46|TANGO4 | |
| Cytomap | 4q26 | 4q31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein transport protein Sec24DSEC24 related gene family, member DSEC24-related protein D | pleiotropic regulator 1pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)transport and golgi organization 4 homolog | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O94855 | O43660 | |
| Ensembl transtripts involved in fusion gene | ENST00000280551, ENST00000379735, ENST00000429811, ENST00000505134, ENST00000511481, ENST00000419654, | ENST00000499023, ENST00000393905, ENST00000302078, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 1 X 1 X 1=1 |
| # samples | 5 | 1 | |
| ** MAII score | log2(5/18*10)=1.47393118833241 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SEC24D [Title/Abstract] AND PLRG1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | SEC24D | GO:0090110 | cargo loading into COPII-coated vesicle | 17499046|18843296 |
| Tgene | PLRG1 | GO:0000398 | mRNA splicing, via spliceosome | 28076346 |
| 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 | BRCA | TCGA-AO-A1KR-01A | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| * 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 | ENST00000280551 | ENST00000499023 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000280551 | ENST00000393905 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000280551 | ENST00000302078 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000379735 | ENST00000499023 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000379735 | ENST00000393905 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000379735 | ENST00000302078 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000429811 | ENST00000499023 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000429811 | ENST00000393905 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| In-frame | ENST00000429811 | ENST00000302078 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| 5UTR-3CDS | ENST00000505134 | ENST00000499023 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| 5UTR-3CDS | ENST00000505134 | ENST00000393905 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| 5UTR-3CDS | ENST00000505134 | ENST00000302078 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000511481 | ENST00000499023 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000511481 | ENST00000393905 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| In-frame | ENST00000511481 | ENST00000302078 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000419654 | ENST00000499023 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000419654 | ENST00000393905 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
| Frame-shift | ENST00000419654 | ENST00000302078 | SEC24D | chr4 | 119673151 | - | PLRG1 | chr4 | 155457896 | - |
Top |
FusionProtFeatures for SEC24D_PLRG1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEC24D | PLRG1 |
| Component of the coat protein complex II (COPII) whichpromotes the formation of transport vesicles from the endoplasmicreticulum (ER). The coat has two main functions, the physicaldeformation of the endoplasmic reticulum membrane into vesiclesand the selection of cargo molecules for their transport to theGolgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296).Plays a central role in cargo selection within the COPII complexand together with SEC24C may have a different specificity comparedto SEC24A and SEC24B (PubMed:17499046, PubMed:20427317,PubMed:18843296). May more specifically package GPI-anchoredproteins through the cargo receptor TMED10 (PubMed:20427317). Mayalso be specific for IxM motif-containing cargos like the SNAREsGOSR2 and STX5 (PubMed:18843296). {ECO:0000269|PubMed:17499046,ECO:0000269|PubMed:18843296, ECO:0000269|PubMed:20427317}. | Involved in pre-mRNA splicing as component of thespliceosome (PubMed:28502770, PubMed:28076346). Component of thePRP19-CDC5L complex that forms an integral part of the spliceosomeand is required for activating pre-mRNA splicing (PubMed:11101529,PubMed:11544257). {ECO:0000269|PubMed:11101529,ECO:0000269|PubMed:11544257, ECO:0000269|PubMed:28076346,ECO:0000269|PubMed:28502770}. |
| 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 SEC24D_PLRG1 |
| 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_SEC24D_ENST00000429811_chr4_119673151_-_PLRG1_ENST00000302078_chr4_155457896_-_145aa MIDVSYSNIKNGLVKLICEELKTMLEKIPKEEQEETSAIRVGFITYNKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQS >In-frame_SEC24D_ENST00000511481_chr4_119673151_-_PLRG1_ENST00000302078_chr4_155457896_-_220aa MCPFMQFIEGGRRYQCGFCNCVNDVPPFYFQHLDHIGRRLDHYEKPELSLGSYEYVATLDYCRKSKPPNPPAFIFMIDVSYSNIKNGLVK LICEELKTMLEKIPKEEQEETSAIRVGFITYNKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQSVIHNLLDQIPDMFAD |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SEC24D_ENST00000429811_chr4_119673151_-_PLRG1_ENST00000302078_chr4_155457896_-_435nt ATGATTGATGTTTCATATAGTAACATAAAGAATGGACTTGTCAAGCTCATATGTGAAGAACTGAAGACCATGCTGGAAAAAATTCCAAAG GAAGAGCAAGAAGAGACGTCTGCAATTCGAGTGGGTTTTATCACATATAACAAAGTTCTCCATTTCTTTAATGTGAAGAGTAATCTGGCC CAGCCTCAGATGATGGTGGTGACTGATGTTGGAGAAGTCTTTGTTCCTTTGTTGGATGGTTTCCTTGTCAACTATCAAGAATCCCAATCT GTGATTCATAATTTGTTGGACCAGATTCCAGACATGTTTGCAGACTCTAATGAAAATGAGACTGTCTTTGCTCCTGTCATCCAGGCTGGC >In-frame_SEC24D_ENST00000511481_chr4_119673151_-_PLRG1_ENST00000302078_chr4_155457896_-_660nt ATGTGCCCATTTATGCAGTTCATCGAAGGAGGAAGGAGATATCAGTGTGGATTTTGCAACTGTGTGAATGATGTTCCACCATTCTATTTC CAACATCTGGACCACATTGGAAGAAGACTGGACCACTATGAGAAACCAGAGTTATCTCTAGGATCTTATGAATATGTTGCCACTTTGGAT TATTGCAGAAAGAGTAAGCCTCCCAACCCACCAGCCTTTATCTTCATGATTGATGTTTCATATAGTAACATAAAGAATGGACTTGTCAAG CTCATATGTGAAGAACTGAAGACCATGCTGGAAAAAATTCCAAAGGAAGAGCAAGAAGAGACGTCTGCAATTCGAGTGGGTTTTATCACA TATAACAAAGTTCTCCATTTCTTTAATGTGAAGAGTAATCTGGCCCAGCCTCAGATGATGGTGGTGACTGATGTTGGAGAAGTCTTTGTT CCTTTGTTGGATGGTTTCCTTGTCAACTATCAAGAATCCCAATCTGTGATTCATAATTTGTTGGACCAGATTCCAGACATGTTTGCAGAC TCTAATGAAAATGAGACTGTCTTTGCTCCTGTCATCCAGGCTGGCATGGAAGCACTAAAGACAGAAGAAACTCATCCAGTCAGCTGGAAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SEC24D_ENST00000429811_chr4_119673151_-_PLRG1_ENST00000302078_chr4_155457896_-_768nt TTATTCCGTATGTAGGTCACTAAAGTTGTTTGCCTGTGGCTCTCTTTTCTAAATATTTTGTAAGATGCAACTGAAGGATCACTTCCTAAA AGCTGTTTGAACACCAGCCAGTAAAGGGACCAACAACTAAAAAACATGTTCGTAGCAGCTGCTTTATGTCACAGTGATTATTTTAAACAG ATAAAGAAAACGCCTGACGTTCTATGTTACCGCAAATATGTAAAAAACTAGAAGAGTAAGCCTCCCAACCCACCAGCCTTTATCTTCATG ATTGATGTTTCATATAGTAACATAAAGAATGGACTTGTCAAGCTCATATGTGAAGAACTGAAGACCATGCTGGAAAAAATTCCAAAGGAA GAGCAAGAAGAGACGTCTGCAATTCGAGTGGGTTTTATCACATATAACAAAGTTCTCCATTTCTTTAATGTGAAGAGTAATCTGGCCCAG CCTCAGATGATGGTGGTGACTGATGTTGGAGAAGTCTTTGTTCCTTTGTTGGATGGTTTCCTTGTCAACTATCAAGAATCCCAATCTGTG ATTCATAATTTGTTGGACCAGATTCCAGACATGTTTGCAGACTCTAATGAAAATGAGACTGTCTTTGCTCCTGTCATCCAGGCTGGCATG GAAGCACTAAAGACAGAAGAAACTCATCCAGTCAGCTGGAAACCAGAAATTATCAAGAGAAAGAGATTTTAATGAATGTGGAATTTTTTC >In-frame_SEC24D_ENST00000511481_chr4_119673151_-_PLRG1_ENST00000302078_chr4_155457896_-_869nt ACCAGAGCCAGGCCCATGCTGTGGATCAGAAGCGACCATAAACAAGAAAATCCAATCTGTCTTCTGGCTTTCTTGAGAGTCCCCTTTACT TGGTAAATCACGGCGAGAGTGGACCAGTCAGATGCAACAGGTGCAAGGCCTACATGTGCCCATTTATGCAGTTCATCGAAGGAGGAAGGA GATATCAGTGTGGATTTTGCAACTGTGTGAATGATGTTCCACCATTCTATTTCCAACATCTGGACCACATTGGAAGAAGACTGGACCACT ATGAGAAACCAGAGTTATCTCTAGGATCTTATGAATATGTTGCCACTTTGGATTATTGCAGAAAGAGTAAGCCTCCCAACCCACCAGCCT TTATCTTCATGATTGATGTTTCATATAGTAACATAAAGAATGGACTTGTCAAGCTCATATGTGAAGAACTGAAGACCATGCTGGAAAAAA TTCCAAAGGAAGAGCAAGAAGAGACGTCTGCAATTCGAGTGGGTTTTATCACATATAACAAAGTTCTCCATTTCTTTAATGTGAAGAGTA ATCTGGCCCAGCCTCAGATGATGGTGGTGACTGATGTTGGAGAAGTCTTTGTTCCTTTGTTGGATGGTTTCCTTGTCAACTATCAAGAAT CCCAATCTGTGATTCATAATTTGTTGGACCAGATTCCAGACATGTTTGCAGACTCTAATGAAAATGAGACTGTCTTTGCTCCTGTCATCC AGGCTGGCATGGAAGCACTAAAGACAGAAGAAACTCATCCAGTCAGCTGGAAACCAGAAATTATCAAGAGAAAGAGATTTTAATGAATGT |
Top |
FusionGenePPI for SEC24D_PLRG1 |
| 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 |
| SEC24D | SEC23B, SEC24C, SEC24A, PICALM, LMO4, RSU1, CARS, FAM114A1, GTF2E2, HIST1H1C, PXN, THUMPD3, USP48, VPS29, SHMT2, EWSR1, SF3B4, LPPR2, NAAA, ARFIP1, CD2AP, SEC23A, SH3KBP1, NTRK1, WWP2, XPO1, PLEKHO1, SLC13A2, AMTN, TMA16 | PLRG1 | PRPF19, CDC5L, BCAS2, CPVL, USP42, ZSCAN1, SRRM1, CTNNBL1, KPNA2, KPNA1, TADA2A, SF3A2, CUL3, U2AF2, CWC15, USB1, APP, PRPF4, XAB2, RBM39, ISY1, SNRPA1, SF3A1, ZCRB1, RBM14, UCHL5, RPL9, MDC1, EIF4A3, MAGOH, SF3B1, CSNK2A2, SUZ12, BMI1, CCDC94, HNRNPM, NTRK1, AP2M1, ISY1-RAB43, MRPL40, PDIA5, PABPC1, PABPC4, PCF11, PRPF3, PRPF8, SF3A3, SF3B3, SNRPD2, SNW1, MX1, SCARNA22, IFI16, XPO1, BACH1, LINS, CWF19L2, CRNKL1, AQR, DHX35, GPATCH1, SYF2, PPIE, AAR2, CD2BP2, EAPP, TSSC4, DLST, PDHA1, RNF157 |
| - 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 SEC24D_PLRG1 |
| 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 SEC24D_PLRG1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SEC24D | C4225382 | COLE-CARPENTER SYNDROME 2 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|