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: 16420

FusionGeneSummary for HMCN1_ZSWIM4

check button Fusion gene summary
Fusion gene informationFusion gene name: HMCN1_ZSWIM4
Fusion gene ID: 16420
HgeneTgene
Gene symbol

HMCN1

ZSWIM4

Gene ID

83872

65249

Gene namehemicentin 1zinc finger SWIM-type containing 4
SynonymsARMD1|FBLN6|FIBL-6|FIBL6-
Cytomap

1q25.3-q31.1

19p13.13-p13.12

Type of geneprotein-codingprotein-coding
Descriptionhemicentin-1LOC100507250/HMCN1 fusionfibulin-6zinc finger SWIM domain-containing protein 4zinc finger, SWIM domain containing 4
Modification date2018052320180523
UniProtAcc

Q96RW7

Q9H7M6

Ensembl transtripts involved in fusion geneENST00000271588, ENST00000367492, 
ENST00000485744, 
ENST00000254323, 
ENST00000440752, 
Fusion gene scores* DoF score2 X 2 X 3=123 X 5 X 4=60
# samples 35
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HMCN1 [Title/Abstract] AND ZSWIM4 [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
TCGARVSARCTCGA-FX-A2QS-01AHMCN1chr1

186052093

+ZSWIM4chr19

13910534

+
* 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-shiftENST00000271588ENST00000254323HMCN1chr1

186052093

+ZSWIM4chr19

13910534

+
5CDS-intronENST00000271588ENST00000440752HMCN1chr1

186052093

+ZSWIM4chr19

13910534

+
Frame-shiftENST00000367492ENST00000254323HMCN1chr1

186052093

+ZSWIM4chr19

13910534

+
5CDS-intronENST00000367492ENST00000440752HMCN1chr1

186052093

+ZSWIM4chr19

13910534

+
intron-3CDSENST00000485744ENST00000254323HMCN1chr1

186052093

+ZSWIM4chr19

13910534

+
intron-intronENST00000485744ENST00000440752HMCN1chr1

186052093

+ZSWIM4chr19

13910534

+

Top

FusionProtFeatures for HMCN1_ZSWIM4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HMCN1

Q96RW7

ZSWIM4

Q9H7M6

Promotes cleavage furrow maturation during cytokinesisin preimplantation embryos. May play a role in the architecture ofadhesive and flexible epithelial cell junctions. May play a roleduring myocardial remodeling by imparting an effect on cardiacfibroblast migration. {ECO:0000250|UniProtKB:D3YXG0}.

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 HMCN1_ZSWIM4


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 HMCN1_ZSWIM4


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
HMCN1DDX1, RAPGEF2, CLP1, MCM2ZSWIM4


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 HMCN1_ZSWIM4


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 HMCN1_ZSWIM4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHMCN1C1864205Macular Degeneration, Age-Related, 11CTD_human;UNIPROT