FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 21107

FusionGeneSummary for MARVELD2_WDR19

check button Fusion gene summary
Fusion gene informationFusion gene name: MARVELD2_WDR19
Fusion gene ID: 21107
HgeneTgene
Gene symbol

MARVELD2

WDR19

Gene ID

153562

57728

Gene nameMARVEL domain containing 2WD repeat domain 19
SynonymsDFNB49|MARVD2|MRVLDC2|TricATD5|CED4|DYF-2|IFT144|NPHP13|ORF26|Oseg6|PWDMP|SRTD5
Cytomap

5q13.2

4p14

Type of geneprotein-codingprotein-coding
DescriptionMARVEL domain-containing protein 2MARVEL (membrane-associating) domain containing 2tricellulinWD repeat-containing protein 19WD repeat membrane protein PWDMPintraflagellar transport 144 homolog
Modification date2018052720180523
UniProtAcc

Q8N4S9

Q8NEZ3

Ensembl transtripts involved in fusion geneENST00000325631, ENST00000413223, 
ENST00000399820, ENST00000288634, 
ENST00000506503, ENST00000515631, 
Fusion gene scores* DoF score3 X 3 X 3=274 X 4 X 4=64
# samples 34
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-62-A46V-01AMARVELD2chr5

68716358

+WDR19chr4

39287107

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000325631ENST00000399820MARVELD2chr5

68716358

+WDR19chr4

39287107

+
5CDS-3UTRENST00000325631ENST00000288634MARVELD2chr5

68716358

+WDR19chr4

39287107

+
5CDS-intronENST00000325631ENST00000506503MARVELD2chr5

68716358

+WDR19chr4

39287107

+
5CDS-intronENST00000325631ENST00000515631MARVELD2chr5

68716358

+WDR19chr4

39287107

+
5CDS-3UTRENST00000413223ENST00000399820MARVELD2chr5

68716358

+WDR19chr4

39287107

+
5CDS-3UTRENST00000413223ENST00000288634MARVELD2chr5

68716358

+WDR19chr4

39287107

+
5CDS-intronENST00000413223ENST00000506503MARVELD2chr5

68716358

+WDR19chr4

39287107

+
5CDS-intronENST00000413223ENST00000515631MARVELD2chr5

68716358

+WDR19chr4

39287107

+

Top

FusionProtFeatures for MARVELD2_WDR19


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MARVELD2

Q8N4S9

WDR19

Q8NEZ3

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for MARVELD2_WDR19


check button 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).

Top

FusionGenePPI for MARVELD2_WDR19


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
MARVELD2ELAVL1, MOV10, NXF1, TMEM17, TMEM216, CDH1, CTDSPL, STK38, TTL, CTBS, ACAD9, BAIAP2L1, NDUFAF1, RAP2A, ECSIT, GAP43, ITCHWDR19C11orf74, IFT122, DDX39A, IFT43, TULP3, DNAJC7, TULP2, TKT, RAD51D, LRRC27, C6orf141, DOCK5, IFT140, WDR35, PISD, NIPSNAP1, TTC21B, PFKP, NTPCR, SCO1, ACSL3, NEK7


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for MARVELD2_WDR19


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for MARVELD2_WDR19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneWDR19C3280616CRANIOECTODERMAL DYSPLASIA 42UNIPROT
TgeneWDR19C4225376SENIOR-LOKEN SYNDROME 82UNIPROT
TgeneWDR19C3280598SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY1UNIPROT
TgeneWDR19C3280612NEPHRONOPHTHISIS 131UNIPROT