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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: 4300

FusionGeneSummary for BOLA2_LDHA

check button Fusion gene summary
Fusion gene informationFusion gene name: BOLA2_LDHA
Fusion gene ID: 4300
HgeneTgene
Gene symbol

BOLA2

LDHA

Gene ID

654483

3939

Gene namebolA family member 2Blactate dehydrogenase A
SynonymsBOLA2GSD11|HEL-S-133P|LDHM|PIG19
Cytomap

16p11.2

11p15.1

Type of geneprotein-codingprotein-coding
DescriptionbolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2BL-lactate dehydrogenase A chainLDH muscle subunitLDH-ALDH-Mcell proliferation-inducing gene 19 proteinepididymis secretory sperm binding protein Li 133Plactate dehydrogenase Mproliferation-inducing gene 19renal carcinoma antigen NY-REN-59
Modification date2018051920180522
UniProtAcc

Q9H3K6

P00338

Ensembl transtripts involved in fusion geneENST00000330978, ENST00000422447, 
ENST00000430553, ENST00000396222, 
ENST00000227157, ENST00000540430, 
ENST00000379412, ENST00000542179, 
Fusion gene scores* DoF score24 X 31 X 3=22324 X 4 X 1=16
# samples 316
** MAII scorelog2(31/2232*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/16*10)=1.90689059560852
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BOLA2 [Title/Abstract] AND LDHA [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
HgeneBOLA2

GO:0044571

[2Fe-2S] cluster assembly

27519415

HgeneBOLA2

GO:0097428

protein maturation by iron-sulfur cluster transfer

27519415


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
ChiTaRS3.1CA424367BOLA2chr16

29821934

-LDHAchr11

18424469

-
* 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-3CDSENST00000330978ENST00000422447BOLA2chr16

29821934

-LDHAchr11

18424469

-
intron-3CDSENST00000330978ENST00000430553BOLA2chr16

29821934

-LDHAchr11

18424469

-
intron-3CDSENST00000330978ENST00000396222BOLA2chr16

29821934

-LDHAchr11

18424469

-
intron-3CDSENST00000330978ENST00000227157BOLA2chr16

29821934

-LDHAchr11

18424469

-
intron-3CDSENST00000330978ENST00000540430BOLA2chr16

29821934

-LDHAchr11

18424469

-
intron-3CDSENST00000330978ENST00000379412BOLA2chr16

29821934

-LDHAchr11

18424469

-
intron-3CDSENST00000330978ENST00000542179BOLA2chr16

29821934

-LDHAchr11

18424469

-

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FusionProtFeatures for BOLA2_LDHA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BOLA2

Q9H3K6

LDHA

P00338

Acts as a cytosolic iron-sulfur (Fe-S) cluster assemblyfactor that facilitates [2Fe-2S] cluster insertion into a subsetof cytosolic proteins (PubMed:26613676, PubMed:27519415). Actstogether with the monothiol glutaredoxin GLRX3 (PubMed:26613676,PubMed:27519415). {ECO:0000269|PubMed:26613676,ECO:0000269|PubMed:27519415}.

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 BOLA2_LDHA


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 BOLA2_LDHA


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 BOLA2_LDHA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneLDHAP00338DB09118StiripentolL-lactate dehydrogenase A chainsmall moleculeapproved
TgeneLDHAP00338DB02701NicotinamideL-lactate dehydrogenase A chainsmall moleculeapproved|investigational
TgeneLDHAP00338DB11638ArtenimolL-lactate dehydrogenase A chainsmall moleculeapproved|investigational

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RelatedDiseases for BOLA2_LDHA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneLDHAC0005586Bipolar Disorder1PSYGENET
TgeneLDHAC0011570Mental Depression1PSYGENET
TgeneLDHAC0027051Myocardial Infarction1CTD_human
TgeneLDHAC0027080Myoglobinuria1CTD_human;HPO
TgeneLDHAC0041696Unipolar Depression1PSYGENET
TgeneLDHAC0525045Mood Disorders1PSYGENET
TgeneLDHAC0878544Cardiomyopathies1CTD_human
TgeneLDHAC1269683Major Depressive Disorder1PSYGENET