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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: 16865

FusionGeneSummary for HSPA4L_DSP

check button Fusion gene summary
Fusion gene informationFusion gene name: HSPA4L_DSP
Fusion gene ID: 16865
HgeneTgene
Gene symbol

HSPA4L

DSP

Gene ID

22824

1832

Gene nameheat shock protein family A (Hsp70) member 4 likedesmoplakin
SynonymsAPG-1|HSPH3|Osp94DCWHKTA|DP
Cytomap

4q28.1

6p24.3

Type of geneprotein-codingprotein-coding
Descriptionheat shock 70 kDa protein 4Lheat shock 70 kDa protein 4-like proteinheat shock 70-related protein APG-1heat shock 70kDa protein 4-likeheat shock protein (hsp110 family)osmotic stress protein 94testis tissue sperm-binding protein Li 64ndesmoplakin250/210 kDa paraneoplastic pemphigus antigen
Modification date2018052320180523
UniProtAcc

O95757

P15924

Ensembl transtripts involved in fusion geneENST00000439123, ENST00000508776, 
ENST00000296464, ENST00000505726, 
ENST00000515262, 
ENST00000379802, 
ENST00000418664, 
Fusion gene scores* DoF score2 X 2 X 1=417 X 15 X 8=2040
# samples 222
** MAII scorelog2(2/4*10)=2.32192809488736log2(22/2040*10)=-3.2129937233342
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSPA4L [Title/Abstract] AND DSP [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
TgeneDSP

GO:0018149

peptide cross-linking

10908733

TgeneDSP

GO:0030216

keratinocyte differentiation

10908733


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
ChiTaRS3.1BF746859HSPA4Lchr4

128753956

-DSPchr6

7586608

+
* 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-3UTRENST00000439123ENST00000379802HSPA4Lchr4

128753956

-DSPchr6

7586608

+
5CDS-3UTRENST00000439123ENST00000418664HSPA4Lchr4

128753956

-DSPchr6

7586608

+
5CDS-3UTRENST00000508776ENST00000379802HSPA4Lchr4

128753956

-DSPchr6

7586608

+
5CDS-3UTRENST00000508776ENST00000418664HSPA4Lchr4

128753956

-DSPchr6

7586608

+
5CDS-3UTRENST00000296464ENST00000379802HSPA4Lchr4

128753956

-DSPchr6

7586608

+
5CDS-3UTRENST00000296464ENST00000418664HSPA4Lchr4

128753956

-DSPchr6

7586608

+
5CDS-3UTRENST00000505726ENST00000379802HSPA4Lchr4

128753956

-DSPchr6

7586608

+
5CDS-3UTRENST00000505726ENST00000418664HSPA4Lchr4

128753956

-DSPchr6

7586608

+
intron-3UTRENST00000515262ENST00000379802HSPA4Lchr4

128753956

-DSPchr6

7586608

+
intron-3UTRENST00000515262ENST00000418664HSPA4Lchr4

128753956

-DSPchr6

7586608

+

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FusionProtFeatures for HSPA4L_DSP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSPA4L

O95757

DSP

P15924

Possesses chaperone activity in vitro where it inhibitsaggregation of citrate synthase. {ECO:0000250}. Major high molecular weight protein of desmosomes.Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and inthe anchoring of intermediate filaments to the desmosomes.

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


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FusionGeneSequence for HSPA4L_DSP


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 HSPA4L_DSP


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


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 HSPA4L_DSP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneDSPP15924DB01593ZincDesmoplakinsmall moleculeapproved|investigational
TgeneDSPP15924DB11638ArtenimolDesmoplakinsmall moleculeapproved|investigational

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RelatedDiseases for HSPA4L_DSP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDSPC1843896Arrhythmogenic Right Ventricular Dysplasia, Familial, 83CTD_human;UNIPROT
TgeneDSPC4014393CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS2UNIPROT
TgeneDSPC0085298Sudden Cardiac Death1CTD_human;HPO
TgeneDSPC1800706Idiopathic Pulmonary Fibrosis1CTD_human;ORPHANET
TgeneDSPC1843292Skin Fragility-Woolly Hair Syndrome1CTD_human;ORPHANET;UNIPROT
TgeneDSPC1854063Cardiomyopathy dilated with Woolly hair and keratoderma1CTD_human;ORPHANET