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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 41320

FusionGeneSummary for VAC14_HYDIN

check button Fusion gene summary
Fusion gene informationFusion gene name: VAC14_HYDIN
Fusion gene ID: 41320
HgeneTgene
Gene symbol

VAC14

HYDIN

Gene ID

55697

54768

Gene nameVac14, PIKFYVE complex componentHYDIN, axonemal central pair apparatus protein
SynonymsArPIKfyve|TAX1BP2|TRXCILD5|HYDIN1|HYDIN2|PPP1R31
Cytomap

16q22.1-q22.2

16q22.2

Type of geneprotein-codingprotein-coding
Descriptionprotein VAC14 homologTax1 (human T-cell leukemia virus type I) binding proteinhydrocephalus-inducing protein homologprotein phosphatase 1, regulatory subunit 31
Modification date2018052320180519
UniProtAcc

Q08AM6

Q4G0P3

Ensembl transtripts involved in fusion geneENST00000261776, ENST00000571759, 
ENST00000536184, 
ENST00000393567, 
ENST00000448089, ENST00000448691, 
ENST00000321489, ENST00000538248, 
ENST00000541601, ENST00000288168, 
ENST00000393550, ENST00000543639, 
Fusion gene scores* DoF score5 X 4 X 4=803 X 3 X 3=27
# samples 53
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: VAC14 [Title/Abstract] AND HYDIN [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-44-5645-01AVAC14chr16

70834700

-HYDINchr16

70913659

-
* 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
In-frameENST00000261776ENST00000393567VAC14chr16

70834700

-HYDINchr16

70913659

-
5CDS-intronENST00000261776ENST00000448089VAC14chr16

70834700

-HYDINchr16

70913659

-
5CDS-intronENST00000261776ENST00000448691VAC14chr16

70834700

-HYDINchr16

70913659

-
5CDS-intronENST00000261776ENST00000321489VAC14chr16

70834700

-HYDINchr16

70913659

-
5CDS-intronENST00000261776ENST00000538248VAC14chr16

70834700

-HYDINchr16

70913659

-
5CDS-intronENST00000261776ENST00000541601VAC14chr16

70834700

-HYDINchr16

70913659

-
5CDS-intronENST00000261776ENST00000288168VAC14chr16

70834700

-HYDINchr16

70913659

-
5CDS-intronENST00000261776ENST00000393550VAC14chr16

70834700

-HYDINchr16

70913659

-
5CDS-intronENST00000261776ENST00000543639VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-3CDSENST00000571759ENST00000393567VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000571759ENST00000448089VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000571759ENST00000448691VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000571759ENST00000321489VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000571759ENST00000538248VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000571759ENST00000541601VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000571759ENST00000288168VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000571759ENST00000393550VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000571759ENST00000543639VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-3CDSENST00000536184ENST00000393567VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000536184ENST00000448089VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000536184ENST00000448691VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000536184ENST00000321489VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000536184ENST00000538248VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000536184ENST00000541601VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000536184ENST00000288168VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000536184ENST00000393550VAC14chr16

70834700

-HYDINchr16

70913659

-
intron-intronENST00000536184ENST00000543639VAC14chr16

70834700

-HYDINchr16

70913659

-

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FusionProtFeatures for VAC14_HYDIN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VAC14

Q08AM6

HYDIN

Q4G0P3

The PI(3,5)P2 regulatory complex regulates both thesynthesis and turnover of phosphatidylinositol 3,5-bisphosphate(PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinaseactivity. Also required to maintain normal levels ofphosphatidylinositol 3-phosphate (PtdIns(3)P) andphosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in thebiogenesis of endosome carrier vesicles (ECV) / multivesicularbodies (MVB) transport intermediates from early endosomes.{ECO:0000269|PubMed:15542851, ECO:0000269|PubMed:17556371}.

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
TgeneHYDINchr16:70834700chr16:70913659ENST00000321489-0201908_1933-511018Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000321489-0202267_2365-511018Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000321489-0202504_2549-511018Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000448691-0201908_1933-411018Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000448691-0202267_2365-411018Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000448691-0202504_2549-411018Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000538248-0191908_1933-12951Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000538248-0192267_2365-12951Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000538248-0192504_2549-12951Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000541601-0191908_1933-9941Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000541601-0192267_2365-9941Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000541601-0192504_2549-9941Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000321489-0201975_1981-511018Compositional biasNote=Poly-Glu
TgeneHYDINchr16:70834700chr16:70913659ENST00000448691-0201975_1981-411018Compositional biasNote=Poly-Glu
TgeneHYDINchr16:70834700chr16:70913659ENST00000538248-0191975_1981-12951Compositional biasNote=Poly-Glu
TgeneHYDINchr16:70834700chr16:70913659ENST00000541601-0191975_1981-9941Compositional biasNote=Poly-Glu

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneVAC14chr16:70834700chr16:70913659ENST00000261776-119171_20834783RepeatNote=HEAT 3
HgeneVAC14chr16:70834700chr16:70913659ENST00000261776-119212_24934783RepeatNote=HEAT 4
HgeneVAC14chr16:70834700chr16:70913659ENST00000261776-119438_47534783RepeatNote=HEAT 5
HgeneVAC14chr16:70834700chr16:70913659ENST00000261776-119560_59834783RepeatNote=HEAT 6
HgeneVAC14chr16:70834700chr16:70913659ENST00000261776-1195_4234783RepeatNote=HEAT 1
HgeneVAC14chr16:70834700chr16:70913659ENST00000261776-11989_12634783RepeatNote=HEAT 2
TgeneHYDINchr16:70834700chr16:70913659ENST00000393567-59861908_193334055122Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000393567-59862267_236534055122Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000393567-59862504_254934055122Coiled coilOntology_term=ECO:0000255
TgeneHYDINchr16:70834700chr16:70913659ENST00000393567-59861975_198134055122Compositional biasNote=Poly-Glu


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FusionGeneSequence for VAC14_HYDIN


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).

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FusionGenePPI for VAC14_HYDIN


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
VAC14EIF4A2, FIG4, PIKFYVE, VAC14, NEURL4, APP, LSM4, PHKA1, PPIP5K2, PPIP5K1, EGFR, MVP, MPPED2, CASP1, CCBL1, COL8A1, PHF1, PPP2CA, TP53BP1, BHLHE40, SIGLEC5, PDE4DIP, SNF8, RBFOX2, DDAH2, SMUG1, C11orf54, CD209, PRR13, WDYHV1, PCMTD2, PELI1, SPRYD7, NGB, FNDC3B, MTMR9, ASB13, LPAL2, ZNF34, PRADC1, RHOXF2, ACSS1, PHYKPL, PRR20A, C4orf33, MGAT5B, TCEANC, LINC00518, CDRT4, KRTAP19-5, KRTAP19-7, CCDC103, JMJD7, BSG, CD274, PARP16, GNAI2, MICA, ARL13B, PFAS, NTRK1, CRK, SRPK2, XPO1, ERGIC2, ME1, KIAA1715, ZMPSTE24, CLCN7, ANK1, MAVS, RAB21, SLC26A6, MTCH2, ERGIC3, PRAF2, MPZL1, QKI, ATP2B2, ATP2B4, SLMAP, DHODH, VAMP3HYDINUBC, ERRFI1


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


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RelatedDrugs for VAC14_HYDIN


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

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RelatedDiseases for VAC14_HYDIN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHYDINC0020255Hydrocephalus2CTD_human