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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: 19317

FusionGeneSummary for L2HGDH_MBP

check button Fusion gene summary
Fusion gene informationFusion gene name: L2HGDH_MBP
Fusion gene ID: 19317
HgeneTgene
Gene symbol

L2HGDH

MBP

Gene ID

79944

5553

Gene nameL-2-hydroxyglutarate dehydrogenaseproteoglycan 2, pro eosinophil major basic protein
SynonymsC14orf160|L2HGABMPG|MBP|MBP1|proMBP
Cytomap

14q21.3

11q12.1

Type of geneprotein-codingprotein-coding
DescriptionL-2-hydroxyglutarate dehydrogenase, mitochondrial2-hydroxyglutarate dehydrogenaseL-alpha-hydroxyglutarate dehydrogenasealpha-hydroxyglutarate oxidoreductasealpha-ketoglutarate reductaseduraninbone marrow proteoglycaneosinophil granule major basic proteineosinophil major basic proteinnatural killer cell activatorproteoglycan 2 preproproteinproteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)
Modification date2018052320180519
UniProtAcc

Q9H9P8

P02686

Ensembl transtripts involved in fusion geneENST00000261699, ENST00000267436, 
ENST00000421284, ENST00000555423, 
ENST00000555610, ENST00000556393, 
ENST00000382582, ENST00000355994, 
ENST00000397875, ENST00000397866, 
ENST00000397865, ENST00000527041, 
ENST00000359645, ENST00000528160, 
ENST00000397869, ENST00000354542, 
ENST00000526111, ENST00000580402, 
ENST00000579129, ENST00000578193, 
ENST00000397863, ENST00000397860, 
ENST00000487778, 
Fusion gene scores* DoF score6 X 6 X 3=10826 X 20 X 3=1560
# samples 627
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/1560*10)=-2.53051471669878
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: L2HGDH [Title/Abstract] AND MBP [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
ChiTaRS3.1DA137061L2HGDHchr14

50712199

-MBPchr18

74729012

-
* 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-5UTRENST00000261699ENST00000382582L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000355994L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000397875L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000397866L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000397865L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000527041L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000261699ENST00000359645L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000261699ENST00000528160L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000261699ENST00000397869L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000354542L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000526111L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000580402L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000579129L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000578193L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000397863L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000397860L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000261699ENST00000487778L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000382582L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000355994L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000397875L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000397866L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000397865L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000527041L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000267436ENST00000359645L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000267436ENST00000528160L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000267436ENST00000397869L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000354542L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000526111L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000580402L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000579129L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000578193L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000397863L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000397860L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000267436ENST00000487778L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000382582L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000355994L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000397875L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000397866L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000397865L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000527041L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000421284ENST00000359645L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000421284ENST00000528160L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000421284ENST00000397869L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000354542L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000526111L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000580402L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000579129L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000578193L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000397863L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000397860L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000421284ENST00000487778L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000382582L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000355994L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000397875L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000397866L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000397865L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000527041L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000555423ENST00000359645L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000555423ENST00000528160L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000555423ENST00000397869L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000354542L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000526111L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000580402L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000579129L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000578193L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000397863L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000397860L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555423ENST00000487778L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000382582L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000355994L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000397875L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000397866L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000397865L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000527041L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000555610ENST00000359645L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000555610ENST00000528160L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000555610ENST00000397869L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000354542L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000526111L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000580402L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000579129L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000578193L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000397863L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000397860L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000555610ENST00000487778L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000382582L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000355994L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000397875L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000397866L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000397865L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000527041L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000556393ENST00000359645L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000556393ENST00000528160L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-intronENST00000556393ENST00000397869L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000354542L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000526111L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000580402L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000579129L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000578193L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000397863L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000397860L2HGDHchr14

50712199

-MBPchr18

74729012

-
intron-5UTRENST00000556393ENST00000487778L2HGDHchr14

50712199

-MBPchr18

74729012

-

Top

FusionProtFeatures for L2HGDH_MBP


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

Q9H9P8

MBP

P02686


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_MBP


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_MBP


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


Top

RelatedDrugs for L2HGDH_MBP


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_MBP


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
TgeneMBPC0036341Schizophrenia4PSYGENET
TgeneMBPC0014072Experimental Autoimmune Encephalomyelitis3CTD_human
TgeneMBPC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneMBPC0011303Demyelinating Diseases1CTD_human
TgeneMBPC0027873Neuromyelitis Optica1CTD_human