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: 1825

FusionGeneSummary for ANKRD27_TDRD12

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKRD27_TDRD12
Fusion gene ID: 1825
HgeneTgene
Gene symbol

ANKRD27

TDRD12

Gene ID

84079

91646

Gene nameankyrin repeat domain 27tudor domain containing 12
SynonymsPP12899|VARPECAT8
Cytomap

19q13.11

19q13.11

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat domain-containing protein 27VPS9 domain-containing proteinVPS9-ankyrin-repeat proteinVps9 domain and ankyrin-repeat-containing proteinankyrin repeat domain 27 (VPS9 domain)putative ATP-dependent RNA helicase TDRD12ES cell associated transcript 8ES cell-associated transcript 8 proteintudor domain-containing protein 12
Modification date2018052320180409
UniProtAcc

Q96NW4

Q587J7

Ensembl transtripts involved in fusion geneENST00000306065, ENST00000587352, 
ENST00000444215, ENST00000421545, 
Fusion gene scores* DoF score9 X 10 X 5=4509 X 6 X 6=324
# samples 129
** MAII scorelog2(12/450*10)=-1.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKRD27 [Title/Abstract] AND TDRD12 [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
HgeneANKRD27

GO:0035544

negative regulation of SNARE complex assembly

24856514

HgeneANKRD27

GO:0045022

early endosome to late endosome transport

16525121


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
TCGARVCESCTCGA-DG-A2KM-01AANKRD27chr19

33106564

-TDRD12chr19

33222631

+
* 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
Frame-shiftENST00000306065ENST00000444215ANKRD27chr19

33106564

-TDRD12chr19

33222631

+
Frame-shiftENST00000306065ENST00000421545ANKRD27chr19

33106564

-TDRD12chr19

33222631

+
intron-3CDSENST00000587352ENST00000444215ANKRD27chr19

33106564

-TDRD12chr19

33222631

+
intron-3CDSENST00000587352ENST00000421545ANKRD27chr19

33106564

-TDRD12chr19

33222631

+

Top

FusionProtFeatures for ANKRD27_TDRD12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANKRD27

Q96NW4

TDRD12

Q587J7

May be a guanine exchange factor (GEF) for Rab21, Rab32and Rab38 and regulate endosome dynamics (PubMed:16525121,PubMed:18477474). May regulate the participation of VAMP7 inmembrane fusion events; in vitro inhibits VAMP7-mediated SNAREcomplex formation by trapping VAMP7 in a closed, fusogenicallyinactive conformation (PubMed:23104059). Involved in peripheralmelanosomal distribution of TYRP1 in melanocytes; the function,which probably is implicating vesicle-trafficking, includescooperation with Rab32, Rab38 and VAMP7 (By similarity). Involvedin the regulation of neurite growth; the function seems to requireits GEF activity, probably towards Rab21, and VAMP7 but notRab32/38 (By similarity). Proposed to be involved in Golgi sortingof VAMP7 and transport of VAMP7 vesicles to the cell surface; thefunction seems to implicate kinesin heavy chain isoform 5proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required forthe colocalization of VAMP7 and Rab21, probably on TGN sites(PubMed:19745841). Involved in GLUT1 endosome-to-plasma membranetrafficking; the function is dependent of association with VPS29(PubMed:24856514). Regulates the proper trafficking of melanogenicenzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (Bysimilarity). {ECO:0000250|UniProtKB:Q3UMR0,ECO:0000269|PubMed:23104059, ECO:0000269|PubMed:24856514,ECO:0000305|PubMed:16525121, ECO:0000305|PubMed:18477474,ECO:0000305|PubMed:22705394}. Probable ATP-binding RNA helicase required duringspermatogenesis to repress transposable elements and preventingtheir mobilization, which is essential for the germline integrity.Acts via the piRNA metabolic process, which mediates therepression of transposable elements during meiosis by formingcomplexes composed of piRNAs and Piwi proteins and governs themethylation and subsequent repression of transposons. Involved inthe secondary piRNAs metabolic process. Acts via the PET complex,a multiprotein complex required during the secondary piRNAsmetabolic process for the PIWIL2 slicing-triggered loading ofPIWIL4 piRNAs. {ECO:0000250|UniProtKB:Q9CWU0}.

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 ANKRD27_TDRD12


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 ANKRD27_TDRD12


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
ANKRD27VAMP7, SMAD1, NFKBIA, DLK1, RAB40A, RAB40B, RAB40C, VPS26A, VPS26B, VPS29, HIF1AN, TPCN2, ZNF669, IKZF1TDRD12


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 ANKRD27_TDRD12


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 ANKRD27_TDRD12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource