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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: 10216

FusionGeneSummary for DNAJB2_NAP1L1

check button Fusion gene summary
Fusion gene informationFusion gene name: DNAJB2_NAP1L1
Fusion gene ID: 10216
HgeneTgene
Gene symbol

DNAJB2

NAP1L1

Gene ID

3300

4673

Gene nameDnaJ heat shock protein family (Hsp40) member B2nucleosome assembly protein 1 like 1
SynonymsCMT2T|DSMA5|HSJ-1|HSJ1|HSPF3NAP1|NAP1L|NRP
Cytomap

2q35

12q21.2

Type of geneprotein-codingprotein-coding
DescriptiondnaJ homolog subfamily B member 2DnaJ (Hsp40) homolog, subfamily B, member 2dnaJ protein homolog 1heat shock 40 kDa protein 3heat shock protein J1heat shock protein, neuronal DNAJ-like 1nucleosome assembly protein 1-like 1HSP22-like protein interacting proteinNAP-1-related protein
Modification date2018052320180522
UniProtAcc

P25686

P55209

Ensembl transtripts involved in fusion geneENST00000336576, ENST00000392086, 
ENST00000463463, 		ENST00000261182, 
ENST00000393263, ENST00000431879, 
ENST00000547773, ENST00000544816, 
ENST00000542344, ENST00000535020, 
ENST00000549596, ENST00000547993, 
ENST00000552342, ENST00000548044, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 7 X 2=84
# samples 210
** MAII scorelog2(2/4*10)=2.32192809488736log2(10/84*10)=0.251538766995964
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DNAJB2 [Title/Abstract] AND NAP1L1 [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
HgeneDNAJB2

GO:0032091

negative regulation of protein binding

7957263

HgeneDNAJB2

GO:0032781

positive regulation of ATPase activity

7957263|22219199

HgeneDNAJB2

GO:0042026

protein refolding

21231916

HgeneDNAJB2

GO:0090084

negative regulation of inclusion body assembly

21231916

HgeneDNAJB2

GO:1903644

regulation of chaperone-mediated protein folding

7957263


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
ChiTaRS3.1BF967465DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
* 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-shiftENST00000336576ENST00000261182DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
Frame-shiftENST00000336576ENST00000393263DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-intronENST00000336576ENST00000431879DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-intronENST00000336576ENST00000547773DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-5UTRENST00000336576ENST00000544816DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-5UTRENST00000336576ENST00000542344DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-5UTRENST00000336576ENST00000535020DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-5UTRENST00000336576ENST00000549596DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-intronENST00000336576ENST00000547993DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-intronENST00000336576ENST00000552342DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-intronENST00000336576ENST00000548044DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
Frame-shiftENST00000392086ENST00000261182DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
Frame-shiftENST00000392086ENST00000393263DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-intronENST00000392086ENST00000431879DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-intronENST00000392086ENST00000547773DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-5UTRENST00000392086ENST00000544816DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-5UTRENST00000392086ENST00000542344DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-5UTRENST00000392086ENST00000535020DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-5UTRENST00000392086ENST00000549596DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-intronENST00000392086ENST00000547993DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-intronENST00000392086ENST00000552342DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
5CDS-intronENST00000392086ENST00000548044DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-3CDSENST00000463463ENST00000261182DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-3CDSENST00000463463ENST00000393263DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-intronENST00000463463ENST00000431879DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-intronENST00000463463ENST00000547773DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-5UTRENST00000463463ENST00000544816DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-5UTRENST00000463463ENST00000542344DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-5UTRENST00000463463ENST00000535020DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-5UTRENST00000463463ENST00000549596DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-intronENST00000463463ENST00000547993DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-intronENST00000463463ENST00000552342DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-
3UTR-intronENST00000463463ENST00000548044DNAJB2chr2

220146727

+NAP1L1chr12

76453630

-

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FusionProtFeatures for DNAJB2_NAP1L1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DNAJB2

P25686

NAP1L1

P55209

Functions as a co-chaperone, regulating the substratebinding and activating the ATPase activity of chaperones of theHSP70/heat shock protein 70 family (PubMed:7957263,PubMed:22219199). In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins(PubMed:15936278, PubMed:21625540). Thereby, may regulate theaggregation and promote the functional recovery of misfoldedproteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial formany biological processes (PubMed:12754272, PubMed:20889486,PubMed:21719532, PubMed:22396390, PubMed:24023695). Isoform 1which is localized to the endoplasmic reticulum membranes mayspecifically function in ER-associated protein degradation ofmisfolded proteins (PubMed:15936278).{ECO:0000269|PubMed:12754272, ECO:0000269|PubMed:15936278,ECO:0000269|PubMed:20889486, ECO:0000269|PubMed:21625540,ECO:0000269|PubMed:21719532, ECO:0000269|PubMed:22219199,ECO:0000269|PubMed:22396390, ECO:0000269|PubMed:24023695,ECO:0000269|PubMed:7957263}. May be involved in modulating chromatin formation andcontribute to regulation of cell proliferation.

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 DNAJB2_NAP1L1


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 DNAJB2_NAP1L1


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 DNAJB2_NAP1L1


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 DNAJB2_NAP1L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNAJB2C3553989SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 51ORPHANET;UNIPROT