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Fusion gene ID: 12202 |
FusionGeneSummary for EVC2_CPM |
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Fusion gene information | Fusion gene name: EVC2_CPM | Fusion gene ID: 12202 | Hgene | Tgene | Gene symbol | EVC2 | CPM | Gene ID | 132884 | 1368 |
Gene name | EvC ciliary complex subunit 2 | carboxypeptidase M | |
Synonyms | LBN|WAD | - | |
Cytomap | 4p16.2 | 12q15 | |
Type of gene | protein-coding | protein-coding | |
Description | limbinEllis van Creveld syndrome 2ellis-van Creveld syndrome protein 2 | carboxypeptidase Mrenal carboxypeptidaseurinary carboxypeptidase B | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q86UK5 | P14384 | |
Ensembl transtripts involved in fusion gene | ENST00000344938, ENST00000344408, ENST00000310917, | ENST00000546373, ENST00000551568, ENST00000338356, ENST00000549691, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 38 X 10 X 8=3040 |
# samples | 4 | 35 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(35/3040*10)=-3.11864449649862 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EVC2 [Title/Abstract] AND CPM [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | SARC | TCGA-HB-A3YV-01A | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5CDS-intron | ENST00000344938 | ENST00000546373 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
5CDS-intron | ENST00000344938 | ENST00000551568 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
5CDS-intron | ENST00000344938 | ENST00000338356 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
5CDS-intron | ENST00000344938 | ENST00000549691 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
5CDS-intron | ENST00000344408 | ENST00000546373 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
5CDS-intron | ENST00000344408 | ENST00000551568 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
5CDS-intron | ENST00000344408 | ENST00000338356 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
5CDS-intron | ENST00000344408 | ENST00000549691 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
intron-intron | ENST00000310917 | ENST00000546373 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
intron-intron | ENST00000310917 | ENST00000551568 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
intron-intron | ENST00000310917 | ENST00000338356 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
intron-intron | ENST00000310917 | ENST00000549691 | EVC2 | chr4 | 5710013 | - | CPM | chr12 | 69236109 | - |
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FusionProtFeatures for EVC2_CPM |
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Hgene | Tgene |
EVC2 | CPM |
Component of the EvC complex that positively regulatesciliary Hedgehog (Hh) signaling. Plays a critical role in boneformation and skeletal development. May be involved in earlyembryonic morphogenesis. {ECO:0000250|UniProtKB:Q8K1G2}. | Specifically removes C-terminal basic residues (Arg orLys) from peptides and proteins. It is believed to play importantroles in the control of peptide hormone and growth factor activityat the cell surface, and in the membrane-localized degradation ofextracellular proteins. {ECO:0000269|PubMed:12457462}. |
![]() * 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 EVC2_CPM |
![]() (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 EVC2_CPM |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
EVC2 | BANF1, SMAD9, ACBD3, ACSL3, AHCY, ALDH3A2, ANKLE2, ATP6AP1, ATP6AP2, BAG2, BCAP31, THEM6, CAMLG, CCDC47, CDKAL1, CKAP4, DDRGK1, DHRS7, EMD, ESYT1, FNDC3A, GLMN, HMOX2, JPH1, LBR, MAGT1, MLXIPL, MOGS, NSDHL, NUDC, NUDCD2, NUDCD3, PGRMC2, PLD3, POR, PREB, RABL3, RPN1, SCFD1, SEC11A, SEC24B, SEC63, SLC33A1, SMPD4, SOAT1, SPCS2, SPCS3, SRPR, SRPRB, STIM1, STT3B, STX5, TMEM199, TMEM57, TMX1, TOR1AIP1, TRIM13, EMC2, UBXN4, VANGL1, VEZT, VMA21, VRK2, ACTR2, CDC37, CLCC1, CYP51A1, DNAJC7, FKBP8, GRM5, GYS1, HSPBP1, ISOC1, LMBR1L, NUP155, PTPN1, ST7, STIP1, STUB1, SUGT1, NDC1, TTC1, UBE2J1, UNC45A, YWHAH | CPM | ELAVL1, CAPZA2, DBN1, FLNA, GAK, MYH9, PPP1CC, RAB7A, PDLIM7, ATP6AP2, SYNPO, MAPRE1, GOLT1B, LIMA1, ANLN, MYO19, ZSCAN12, ULBP1, FTH1, TBC1D22B, GTPBP3 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EVC2_CPM |
![]() (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 EVC2_CPM |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EVC2 | C0013903 | Ellis-Van Creveld Syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | CPM | C0014175 | Endometriosis | 1 | CTD_human |
Tgene | CPM | C0037116 | Silicosis | 1 | CTD_human |