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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: 35869

FusionGeneSummary for SPTB_DLAT

check button Fusion gene summary
Fusion gene informationFusion gene name: SPTB_DLAT
Fusion gene ID: 35869
HgeneTgene
Gene symbol

SPTB

DLAT

Gene ID

6710

1737

Gene namespectrin beta, erythrocyticdihydrolipoamide S-acetyltransferase
SynonymsEL3|HS2|HSPTB1|SPH2DLTA|PDC-E2|PDCE2
Cytomap

14q23.3

11q23.1

Type of geneprotein-codingprotein-coding
Descriptionspectrin beta chain, erythrocyticSp betabeta-I spectrinmembrane cytoskeletal proteinspectrin beta Tandilspectrin beta chain, erythrocytedihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial70 kDa mitochondrial autoantigen of primary biliary cirrhosisE2 component of pyruvate dehydrogenase complexM2 antigen complex 70 kDa subunitPBCdih
Modification date2018051920180522
UniProtAcc

P11277

P10515

Ensembl transtripts involved in fusion geneENST00000389722, ENST00000556626, 
ENST00000389721, ENST00000542895, 
ENST00000389720, ENST00000342835, 
ENST00000280346, ENST00000393051, 
ENST00000537636, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 3=48
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPTB [Title/Abstract] AND DLAT [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
ChiTaRS3.1AI022776SPTBchr14

65319074

+DLATchr11

111896173

+
* 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
intron-5UTRENST00000389722ENST00000280346SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000389722ENST00000393051SPTBchr14

65319074

+DLATchr11

111896173

+
intron-intronENST00000389722ENST00000537636SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000556626ENST00000280346SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000556626ENST00000393051SPTBchr14

65319074

+DLATchr11

111896173

+
intron-intronENST00000556626ENST00000537636SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000389721ENST00000280346SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000389721ENST00000393051SPTBchr14

65319074

+DLATchr11

111896173

+
intron-intronENST00000389721ENST00000537636SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000542895ENST00000280346SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000542895ENST00000393051SPTBchr14

65319074

+DLATchr11

111896173

+
intron-intronENST00000542895ENST00000537636SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000389720ENST00000280346SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000389720ENST00000393051SPTBchr14

65319074

+DLATchr11

111896173

+
intron-intronENST00000389720ENST00000537636SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000342835ENST00000280346SPTBchr14

65319074

+DLATchr11

111896173

+
intron-5UTRENST00000342835ENST00000393051SPTBchr14

65319074

+DLATchr11

111896173

+
intron-intronENST00000342835ENST00000537636SPTBchr14

65319074

+DLATchr11

111896173

+

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FusionProtFeatures for SPTB_DLAT


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

P11277

DLAT

P10515

Spectrin is the major constituent of the cytoskeletalnetwork underlying the erythrocyte plasma membrane. It associateswith band 4.1 and actin to form the cytoskeletal superstructure ofthe erythrocyte plasma membrane. The pyruvate dehydrogenase complex catalyzes the overallconversion of pyruvate to acetyl-CoA and CO(2), and thereby linksthe glycolytic pathway to the tricarboxylic cycle.

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 SPTB_DLAT


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 SPTB_DLAT


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 SPTB_DLAT


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 SPTB_DLAT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPTBC0037889Hereditary spherocytosis2CTD_human;ORPHANET
HgeneSPTBC0002878Anemia, Hemolytic1CTD_human;HPO
HgeneSPTBC0002891Anemia, Neonatal1CTD_human
HgeneSPTBC0013902Elliptocytosis, Hereditary1CTD_human;ORPHANET
HgeneSPTBC2674219SPHEROCYTOSIS, HEREDITARY, 21UNIPROT
TgeneDLATC0151744Myocardial Ischemia1CTD_human