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Fusion gene ID: 12205 |
FusionGeneSummary for EVC2_TMED11P |
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Fusion gene information | Fusion gene name: EVC2_TMED11P | Fusion gene ID: 12205 | Hgene | Tgene | Gene symbol | EVC2 | TMED11P | Gene ID | 132884 | 100379220 |
Gene name | EvC ciliary complex subunit 2 | transmembrane p24 trafficking protein 11, pseudogene | |
Synonyms | LBN|WAD | p24a1|p24alpha1 | |
Cytomap | 4p16.2 | 4p16.3 | |
Type of gene | protein-coding | pseudo | |
Description | limbinEllis van Creveld syndrome 2ellis-van Creveld syndrome protein 2 | transmembrane emp24 protein transport domain containing 11, pseudogene | |
Modification date | 20180519 | 20180329 | |
UniProtAcc | Q86UK5 | ||
Ensembl transtripts involved in fusion gene | ENST00000344938, ENST00000344408, ENST00000310917, | ENST00000502630, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 2 X 2 X 2=8 |
# samples | 4 | 2 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: EVC2 [Title/Abstract] AND TMED11P [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 | LD | SARC | TCGA-X6-A8C5-01A | EVC2 | chr4 | 5664834 | - | TMED11P | chr4 | 1110198 | - |
* 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-5UTR | ENST00000344938 | ENST00000502630 | EVC2 | chr4 | 5664834 | - | TMED11P | chr4 | 1110198 | - |
5CDS-5UTR | ENST00000344408 | ENST00000502630 | EVC2 | chr4 | 5664834 | - | TMED11P | chr4 | 1110198 | - |
5CDS-5UTR | ENST00000310917 | ENST00000502630 | EVC2 | chr4 | 5664834 | - | TMED11P | chr4 | 1110198 | - |
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FusionProtFeatures for EVC2_TMED11P |
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Hgene | Tgene |
EVC2 | TMED11P |
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}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
![]() * 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_TMED11P |
![]() (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_TMED11P |
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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 | TMED11P |
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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_TMED11P |
![]() (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_TMED11P |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EVC2 | C0013903 | Ellis-Van Creveld Syndrome | 2 | CTD_human;ORPHANET;UNIPROT |