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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: 34968

FusionGeneSummary for SMPDL3B_DNAJB12

check button Fusion gene summary
Fusion gene informationFusion gene name: SMPDL3B_DNAJB12
Fusion gene ID: 34968
HgeneTgene
Gene symbol

SMPDL3B

DNAJB12

Gene ID

27293

54788

Gene namesphingomyelin phosphodiesterase acid like 3BDnaJ heat shock protein family (Hsp40) member B12
SynonymsASML3BDJ10
Cytomap

1p35.3

10q22.1

Type of geneprotein-codingprotein-coding
Descriptionacid sphingomyelinase-like phosphodiesterase 3bASM-like phosphodiesterase 3bdnaJ homolog subfamily B member 12DnaJ (Hsp40) homolog, subfamily B, member 12
Modification date2018052320180519
UniProtAcc

Q92485

Q9NXW2

Ensembl transtripts involved in fusion geneENST00000373894, ENST00000373888, 
ENST00000466793, ENST00000549094, 
ENST00000394903, ENST00000338820, 
ENST00000444643, ENST00000461919, 
Fusion gene scores* DoF score2 X 2 X 1=45 X 4 X 6=120
# samples 26
** MAII scorelog2(2/4*10)=2.32192809488736log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMPDL3B [Title/Abstract] AND DNAJB12 [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
TgeneDNAJB12

GO:0034622

cellular protein-containing complex assembly

27916661

TgeneDNAJB12

GO:0036503

ERAD pathway

21148293|21150129

TgeneDNAJB12

GO:0051085

chaperone cofactor-dependent protein refolding

27916661

TgeneDNAJB12

GO:0071218

cellular response to misfolded protein

21148293|21150129


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
ChiTaRS3.1AI571080SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
* 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
3UTR-intronENST00000373894ENST00000394903SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
3UTR-intronENST00000373894ENST00000338820SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
3UTR-intronENST00000373894ENST00000444643SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
3UTR-intronENST00000373894ENST00000461919SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
intron-intronENST00000373888ENST00000394903SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
intron-intronENST00000373888ENST00000338820SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
intron-intronENST00000373888ENST00000444643SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
intron-intronENST00000373888ENST00000461919SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
intron-intronENST00000466793ENST00000394903SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
intron-intronENST00000466793ENST00000338820SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
intron-intronENST00000466793ENST00000444643SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
intron-intronENST00000466793ENST00000461919SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
3UTR-intronENST00000549094ENST00000394903SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
3UTR-intronENST00000549094ENST00000338820SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
3UTR-intronENST00000549094ENST00000444643SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+
3UTR-intronENST00000549094ENST00000461919SMPDL3Bchr1

28285524

-DNAJB12chr10

74111618

+

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FusionProtFeatures for SMPDL3B_DNAJB12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMPDL3B

Q92485

DNAJB12

Q9NXW2

Lipid-modulating phosphodiesterase (PubMed:26095358).Active on the surface of macrophages and dendritic cells andstrongly influences macrophage lipid composition and membranefluidity. Acts as a negative regulator of Toll-like receptorsignaling (By similarity). {ECO:0000250|UniProtKB:P58242,ECO:0000269|PubMed:26095358}. Acts as a co-chaperone with HSPA8/Hsc70; required topromote protein folding and trafficking, prevent aggregation ofclient proteins, and promote unfolded proteins to endoplasmicreticulum-associated degradation (ERAD) pathway (PubMed:21150129,PubMed:21148293). Acts by determining HSPA8/Hsc70's ATPase andpolypeptide-binding activities. Can also act independently ofHSPA8/Hsc70: together with DNAJB14, acts as a chaperone thatpromotes maturation of potassium channels KCND2 and KCNH2 bystabilizing nascent channel subunits and assembling them intotetramers (PubMed:27916661). While stabilization of nascentchannel proteins is dependent on HSPA8/Hsc70, the process ofoligomerization of channel subunits is independent of HSPA8/Hsc70(PubMed:27916661). When overexpressed, forms membranous structurestogether with DNAJB14 and HSPA8/Hsc70 within the nucleus; the roleof these structures, named DJANGOs, is still unclear(PubMed:24732912). {ECO:0000269|PubMed:21148293,ECO:0000269|PubMed:21150129, ECO:0000269|PubMed:24732912,ECO:0000269|PubMed:27916661}. (Microbial infection) In case of infection bypolyomavirus, involved in the virus endoplasmic reticulum membranepenetration and infection (PubMed:21673190, PubMed:24675744).{ECO:0000269|PubMed:21673190, ECO:0000269|PubMed:24675744}.

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 SMPDL3B_DNAJB12


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 SMPDL3B_DNAJB12


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 SMPDL3B_DNAJB12


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 SMPDL3B_DNAJB12


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