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Fusion gene ID: 21107 |
FusionGeneSummary for MARVELD2_WDR19 |
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Fusion gene information | Fusion gene name: MARVELD2_WDR19 | Fusion gene ID: 21107 | Hgene | Tgene | Gene symbol | MARVELD2 | WDR19 | Gene ID | 153562 | 57728 |
Gene name | MARVEL domain containing 2 | WD repeat domain 19 | |
Synonyms | DFNB49|MARVD2|MRVLDC2|Tric | ATD5|CED4|DYF-2|IFT144|NPHP13|ORF26|Oseg6|PWDMP|SRTD5 | |
Cytomap | 5q13.2 | 4p14 | |
Type of gene | protein-coding | protein-coding | |
Description | MARVEL domain-containing protein 2MARVEL (membrane-associating) domain containing 2tricellulin | WD repeat-containing protein 19WD repeat membrane protein PWDMPintraflagellar transport 144 homolog | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | Q8N4S9 | Q8NEZ3 | |
Ensembl transtripts involved in fusion gene | ENST00000325631, ENST00000413223, | ENST00000399820, ENST00000288634, ENST00000506503, ENST00000515631, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 4 X 4 X 4=64 |
# samples | 3 | 4 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MARVELD2 [Title/Abstract] AND WDR19 [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 | LUAD | TCGA-62-A46V-01A | MARVELD2 | chr5 | 68716358 | + | WDR19 | chr4 | 39287107 | + |
* 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-3UTR | ENST00000325631 | ENST00000399820 | MARVELD2 | chr5 | 68716358 | + | WDR19 | chr4 | 39287107 | + |
5CDS-3UTR | ENST00000325631 | ENST00000288634 | MARVELD2 | chr5 | 68716358 | + | WDR19 | chr4 | 39287107 | + |
5CDS-intron | ENST00000325631 | ENST00000506503 | MARVELD2 | chr5 | 68716358 | + | WDR19 | chr4 | 39287107 | + |
5CDS-intron | ENST00000325631 | ENST00000515631 | MARVELD2 | chr5 | 68716358 | + | WDR19 | chr4 | 39287107 | + |
5CDS-3UTR | ENST00000413223 | ENST00000399820 | MARVELD2 | chr5 | 68716358 | + | WDR19 | chr4 | 39287107 | + |
5CDS-3UTR | ENST00000413223 | ENST00000288634 | MARVELD2 | chr5 | 68716358 | + | WDR19 | chr4 | 39287107 | + |
5CDS-intron | ENST00000413223 | ENST00000506503 | MARVELD2 | chr5 | 68716358 | + | WDR19 | chr4 | 39287107 | + |
5CDS-intron | ENST00000413223 | ENST00000515631 | MARVELD2 | chr5 | 68716358 | + | WDR19 | chr4 | 39287107 | + |
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FusionProtFeatures for MARVELD2_WDR19 |
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Hgene | Tgene |
MARVELD2 | WDR19 |
Plays a role in the formation of the epithelialbarriers. The separation of the endolymphatic and perilymphaticspaces of the organ of Corti from one another by epithelialbarriers is required for normal hearing.{ECO:0000269|PubMed:17186462}. | Component of the IFT complex A (IFT-A), a complexrequired for retrograde ciliary transport (PubMed:20889716).Involved in cilia function and/or assembly (By similarity).Associates with the BBSome complex to mediate ciliary transport(By similarity). {ECO:0000250|UniProtKB:Q3UGF1,ECO:0000269|PubMed:20889716}. |
![]() * 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 MARVELD2_WDR19 |
![]() (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 MARVELD2_WDR19 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MARVELD2 | ELAVL1, MOV10, NXF1, TMEM17, TMEM216, CDH1, CTDSPL, STK38, TTL, CTBS, ACAD9, BAIAP2L1, NDUFAF1, RAP2A, ECSIT, GAP43, ITCH | WDR19 | C11orf74, IFT122, DDX39A, IFT43, TULP3, DNAJC7, TULP2, TKT, RAD51D, LRRC27, C6orf141, DOCK5, IFT140, WDR35, PISD, NIPSNAP1, TTC21B, PFKP, NTPCR, SCO1, ACSL3, NEK7 |
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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 MARVELD2_WDR19 |
![]() (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 MARVELD2_WDR19 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | WDR19 | C3280616 | CRANIOECTODERMAL DYSPLASIA 4 | 2 | UNIPROT |
Tgene | WDR19 | C4225376 | SENIOR-LOKEN SYNDROME 8 | 2 | UNIPROT |
Tgene | WDR19 | C3280598 | SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY | 1 | UNIPROT |
Tgene | WDR19 | C3280612 | NEPHRONOPHTHISIS 13 | 1 | UNIPROT |