FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 19315

FusionGeneSummary for L2HGDH_LMBRD1

check button Fusion gene summary
Fusion gene informationFusion gene name: L2HGDH_LMBRD1
Fusion gene ID: 19315
HgeneTgene
Gene symbol

L2HGDH

LMBRD1

Gene ID

79944

55788

Gene nameL-2-hydroxyglutarate dehydrogenaseLMBR1 domain containing 1
SynonymsC14orf160|L2HGAC6orf209|LMBD1|MAHCF|NESI
Cytomap

14q21.3

6q13

Type of geneprotein-codingprotein-coding
DescriptionL-2-hydroxyglutarate dehydrogenase, mitochondrial2-hydroxyglutarate dehydrogenaseL-alpha-hydroxyglutarate dehydrogenasealpha-hydroxyglutarate oxidoreductasealpha-ketoglutarate reductaseduraninprobable lysosomal cobalamin transporterHDAg-L-interacting protein NESIhepatitis delta antigen-L interacting proteinliver regeneration p-53 related proteinnuclear export signal-interacting protein
Modification date2018052320180522
UniProtAcc

Q9H9P8

Q9NUN5

Ensembl transtripts involved in fusion geneENST00000261699, ENST00000267436, 
ENST00000421284, ENST00000555423, 
ENST00000555610, ENST00000556393, 
ENST00000370577, ENST00000370570, 
Fusion gene scores* DoF score6 X 6 X 3=1085 X 3 X 4=60
# samples 67
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: L2HGDH [Title/Abstract] AND LMBRD1 [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
HgeneL2HGDH

GO:0044267

cellular protein metabolic process

16005139


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
TCGALDBRCATCGA-A2-A0EY-01AL2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
* 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-shitENST00000261699ENST00000370577L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
Frame-shitENST00000261699ENST00000370570L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
Frame-shitENST00000267436ENST00000370577L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
Frame-shitENST00000267436ENST00000370570L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
Frame-shitENST00000421284ENST00000370577L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
Frame-shitENST00000421284ENST00000370570L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
Frame-shitENST00000555423ENST00000370577L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
Frame-shitENST00000555423ENST00000370570L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
Frame-shitENST00000555610ENST00000370577L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
Frame-shitENST00000555610ENST00000370570L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
intron-3CDSENST00000556393ENST00000370577L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-
intron-3CDSENST00000556393ENST00000370570L2HGDHchr14

50760833

-LMBRD1chr6

70386433

-

Top

FusionProtFeatures for L2HGDH_LMBRD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
L2HGDH

Q9H9P8

LMBRD1

Q9NUN5

Probable lysosomal cobalamin transporter. Required toexport cobalamin from lysosomes allowing its conversion tocofactors. {ECO:0000269|PubMed:19136951}. (Microbial infection) Isoform 3: May play a role in theassembly of hepatitis delta virus (HDV).{ECO:0000269|PubMed:15956556}.

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


Top

FusionGeneSequence for L2HGDH_LMBRD1


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).

Top

FusionGenePPI for L2HGDH_LMBRD1


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
L2HGDHA2ML1, TGM1, LCN2, GM2A, CTSV, IVL, KLK10, ATL3, POU5F1, COQ9, COQ5, ITGB8, ACPP, SERPINB4LMBRD1HNRNPC, CSGALNACT2, MBOAT7


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


Top

RelatedDrugs for L2HGDH_LMBRD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for L2HGDH_LMBRD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneL2HGDHC1855995L-2-HYDROXYGLUTARIC ACIDURIA3ORPHANET;UNIPROT
HgeneL2HGDHC2746066Combined D-2- and L-2-hydroxyglutaric aciduria3CTD_human
HgeneL2HGDHC0014544Epilepsy1CTD_human
HgeneL2HGDHC0497552Congenital neurologic anomalies1CTD_human
HgeneL2HGDHC3714756Intellectual Disability1CTD_human