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Fusion gene ID: 33057 |
FusionGeneSummary for SEC24D_CFI |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEC24D_CFI | Fusion gene ID: 33057 | Hgene | Tgene | Gene symbol | SEC24D | CFI | Gene ID | 9871 | 3426 |
| Gene name | SEC24 homolog D, COPII coat complex component | complement factor I | |
| Synonyms | CLCRP2 | AHUS3|ARMD13|C3BINA|C3b-INA|FI|IF|KAF | |
| Cytomap | 4q26 | 4q25 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein transport protein Sec24DSEC24 related gene family, member DSEC24-related protein D | complement factor IC3B/C4B inactivatorC3b-inactivatorKonglutinogen-activating factorcomplement component Icomplement control protein factor Icomplement factor I heavy chainlight chain of factor I | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | O94855 | P05156 | |
| Ensembl transtripts involved in fusion gene | ENST00000280551, ENST00000379735, ENST00000429811, ENST00000505134, ENST00000511481, ENST00000419654, | ENST00000394635, ENST00000394634, ENST00000512148, ENST00000510800, | |
| 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 CFI [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 | SEC24D | GO:0090110 | cargo loading into COPII-coated vesicle | 17499046|18843296 |
| 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-A2-A3XZ-01A | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| * 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 | ENST00000394635 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| Frame-shift | ENST00000280551 | ENST00000394634 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| Frame-shift | ENST00000280551 | ENST00000512148 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| Frame-shift | ENST00000280551 | ENST00000510800 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| Frame-shift | ENST00000379735 | ENST00000394635 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| Frame-shift | ENST00000379735 | ENST00000394634 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| Frame-shift | ENST00000379735 | ENST00000512148 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| Frame-shift | ENST00000379735 | ENST00000510800 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000429811 | ENST00000394635 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000429811 | ENST00000394634 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000429811 | ENST00000512148 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000429811 | ENST00000510800 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000505134 | ENST00000394635 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000505134 | ENST00000394634 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000505134 | ENST00000512148 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000505134 | ENST00000510800 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000511481 | ENST00000394635 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000511481 | ENST00000394634 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000511481 | ENST00000512148 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| intron-3CDS | ENST00000511481 | ENST00000510800 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| 5UTR-3CDS | ENST00000419654 | ENST00000394635 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| 5UTR-3CDS | ENST00000419654 | ENST00000394634 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| 5UTR-3CDS | ENST00000419654 | ENST00000512148 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
| 5UTR-3CDS | ENST00000419654 | ENST00000510800 | SEC24D | chr4 | 119718838 | - | CFI | chr4 | 110687980 | - |
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FusionProtFeatures for SEC24D_CFI |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEC24D | CFI |
| 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}. | Responsible for cleaving the alpha-chains of C4b and C3bin the presence of the cofactors C4-binding protein and factor Hrespectively. |
| 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 SEC24D_CFI |
| 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 SEC24D_CFI |
| 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 | CFI | C3, GLP1R, ECM1 |
| - 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 SEC24D_CFI |
| 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 |
| Tgene | CFI | P05156 | DB01593 | Zinc | Complement factor I | small molecule | approved|investigational |
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RelatedDiseases for SEC24D_CFI |
| 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 |
| Tgene | CFI | C2752039 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 | 5 | ORPHANET;UNIPROT |
| Tgene | CFI | C0242383 | Age related macular degeneration | 3 | CTD_human |
| Tgene | CFI | C3463916 | Complement Factor I (C3 inactivator) deficiency | 2 | CTD_human;ORPHANET;UNIPROT |
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