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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: 32980

FusionGeneSummary for SDHB_PLN

check button Fusion gene summary
Fusion gene informationFusion gene name: SDHB_PLN
Fusion gene ID: 32980
HgeneTgene
Gene symbol

SDHB

PLN

Gene ID

6390

5350

Gene namesuccinate dehydrogenase complex iron sulfur subunit Bphospholamban
SynonymsCWS2|IP|PGL4|SDH|SDH1|SDH2|SDHIPCMD1P|CMH18|PLB
Cytomap

1p36.13

6q22.31

Type of geneprotein-codingprotein-coding
Descriptionsuccinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialiron-sulfur subunit of complex IIsuccinate dehydrogenase complex, subunit B, iron sulfur (Ip)cardiac phospholamban
Modification date2018052320180522
UniProtAcc

P21912

P26678

Ensembl transtripts involved in fusion geneENST00000375499, ENST00000466613, 
ENST00000357525, 
Fusion gene scores* DoF score3 X 4 X 2=243 X 1 X 3=9
# samples 63
** MAII scorelog2(6/24*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SDHB [Title/Abstract] AND PLN [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
TgenePLN

GO:0032780

negative regulation of ATPase activity

19708671

TgenePLN

GO:0051924

regulation of calcium ion transport

22427649

TgenePLN

GO:0051926

negative regulation of calcium ion transport

19708671

TgenePLN

GO:1901020

negative regulation of calcium ion transmembrane transporter activity

19708671

TgenePLN

GO:1901877

negative regulation of calcium ion binding

19708671

TgenePLN

GO:1901894

regulation of calcium-transporting ATPase activity

22427649

TgenePLN

GO:1901895

negative regulation of calcium-transporting ATPase activity

19708671


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-78-7153-01ASDHBchr1

17380443

-PLNchr6

118879988

+
* 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-5UTRENST00000375499ENST00000357525SDHBchr1

17380443

-PLNchr6

118879988

+
5UTR-5UTRENST00000466613ENST00000357525SDHBchr1

17380443

-PLNchr6

118879988

+

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FusionProtFeatures for SDHB_PLN


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

P21912

PLN

P26678

Iron-sulfur protein (IP) subunit of succinatedehydrogenase (SDH) that is involved in complex II of themitochondrial electron transport chain and is responsible fortransferring electrons from succinate to ubiquinone (coenzyme Q). Reversibly inhibits the activity of ATP2A2 in cardiacsarcoplasmic reticulum by decreasing the apparent affinity of theATPase for Ca(2+). Modulates the contractility of the heart musclein response to physiological stimuli via its effects on ATP2A2.Modulates calcium re-uptake during muscle relaxation and plays animportant role in calcium homeostasis in the heart muscle. Thedegree of ATP2A2 inhibition depends on the oligomeric state ofPLN. ATP2A2 inhibition is alleviated by PLN phosphorylation.{ECO:0000269|PubMed:22427649, ECO:0000269|PubMed:22707725}.

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 SDHB_PLN


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 SDHB_PLN


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
SDHBABCA1, GEM, PIK3R5, SPRY2, CUL3, CUL2, CUL1, COPS5, CAND1, SDHA, UQCRFS1, GSN, SLC25A22, RBM14, IWS1, TOMM7, MRPL45, HNRNPUL2, LAMTOR2, TOMM40, NDUFA10, NDUFB6, ATP5B, NDUFB11, NDUFA9, NDUFV2, MRPS10, TMED2, MRPS5, MRPL20, TIMM50, SSBP1, OXA1L, IQGAP1, NDUFS1, NDUFB9, ACAT1, PIGS, MRPL40, OCIAD1, TP53BP1, ITGA4, XRN1, ABCE1, AGL, ATP6AP2, CISD1, COX4I1, DLAT, GPD2, GPI, ILVBL, COX2, NDUFA12, NDUFA2, NDUFA6, NDUFS4, PDHA1, PDHA2, PRDX6, RAB7A, ACLY, CS, DLD, LDHA, MAT2A, MDH2, MRPL48, MTCH2, NDUFS8, NDUFV1, RAB8A, SLC25A3, SUCLG1, UAP1, UAP1L1, SDHC, SUCLA2, TXLNA, UQCRB, UQCRC2, VDAC3, UBXN10, OTUB1, ACN9, COQ9, NDUFA4, CARTPT, DUSP13, TOP3A, D2HGDH, ACAD11, PDPR, POLG, MMADHC, HARS2, PREPL, CLPX, NDUFAB1, ACSF3, RSAD1, SIRT3, NIPSNAP3A, LARS2, PTPDC1PLNSLN, ATP2A1, ATP2A2, PPP1R3A, DVL3, LDLRAD1, TMEM79, EDA, DMPK


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 SDHB_PLN


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 SDHB_PLN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSDHBC0031511Pheochromocytoma7CTD_human;HPO;UNIPROT
HgeneSDHBC1861848PARAGANGLIOMAS 47CTD_human;UNIPROT
HgeneSDHBC0030421Paraganglioma1CTD_human;HPO
TgenePLNC0027051Myocardial Infarction2CTD_human
TgenePLNC1835928CARDIOMYOPATHY, DILATED, 1P2CTD_human;UNIPROT
TgenePLNC0027055Myocardial Reperfusion Injury1CTD_human
TgenePLNC0206146Myocardial Stunning1CTD_human
TgenePLNC0242698Ventricular Dysfunction, Left1CTD_human