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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: 18533

FusionGeneSummary for KHDRBS2_LMBRD1

check button Fusion gene summary
Fusion gene informationFusion gene name: KHDRBS2_LMBRD1
Fusion gene ID: 18533
HgeneTgene
Gene symbol

KHDRBS2

LMBRD1

Gene ID

202559

55788

Gene nameKH RNA binding domain containing, signal transduction associated 2LMBR1 domain containing 1
SynonymsSLM-1|SLM1C6orf209|LMBD1|MAHCF|NESI
Cytomap

6q11.1

6q13

Type of geneprotein-codingprotein-coding
DescriptionKH domain-containing, RNA-binding, signal transduction-associated protein 2KH domain containing, RNA binding, signal transduction associated 2Sam68-like mammalian protein 1probable lysosomal cobalamin transporterHDAg-L-interacting protein NESIhepatitis delta antigen-L interacting proteinliver regeneration p-53 related proteinnuclear export signal-interacting protein
Modification date2018052220180522
UniProtAcc

Q5VWX1

Q9NUN5

Ensembl transtripts involved in fusion geneENST00000281156, ENST00000370577, 
ENST00000370570, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 3 X 4=60
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KHDRBS2 [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

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-55-6978-01AKHDRBS2chr6

62995763

-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-shitENST00000281156ENST00000370577KHDRBS2chr6

62995763

-LMBRD1chr6

70386433

-
Frame-shitENST00000281156ENST00000370570KHDRBS2chr6

62995763

-LMBRD1chr6

70386433

-

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FusionProtFeatures for KHDRBS2_LMBRD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KHDRBS2

Q5VWX1

LMBRD1

Q9NUN5

RNA-binding protein that plays a role in the regulationof alternative splicing and influences mRNA splice site selectionand exon inclusion. Binds both poly(A) and poly(U) homopolymers.Phosphorylation by PTK6 inhibits its RNA-binding ability (Bysimilarity). Induces an increased concentration-dependentincorporation of exon in CD44 pre-mRNA by direct binding topurine-rich exonic enhancer. Can regulate alternative splicing ofNRXN1 in the laminin G-like domain 6 containing the evolutionaryconserved neurexin alternative spliced segment 4 (AS4) involved inneurexin selective targeting to postsynaptic partners. Regulatescell-type specific alternative splicing of NRXN1 at AS4 and actssynergystically with SAM68 in exon skipping. In contrast actsantagonistically with SAM68 in NRXN3 exon skipping at AS4. Itsphosphorylation by FYN inhibits its ability to regulate splicesite selection. May function as an adapter protein for Src kinasesduring mitosis. {ECO:0000250|UniProtKB:Q920F3,ECO:0000250|UniProtKB:Q9WU01}. 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


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FusionGeneSequence for KHDRBS2_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).

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FusionGenePPI for KHDRBS2_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
KHDRBS2EWSR1, RBMX, HNRNPK, KHDRBS3, RPAP2, DDX17, DDX5, HNRNPA1, HNRNPA2B1, HNRNPH1, HNRNPR, SYNCRIP, HNRNPC, IGF2BP1, PRMT1, ILF2, KHDRBS1, HNRNPDL, EHBP1, ARID2, TAF3, DSG1, HNRNPA0, IGF2BP3, HNRNPL, HNRNPUL2, RBM39, ILF3, HNRNPH3, PRMT5, RPS3, FGA, YBX1, FGG, HNRNPD, MRPS27, TARDBP, NUSAP1, SAFB, WDR77, MOV10, HRNR, FGB, DEK, FBXW11, LRRC15, HSP90AB1, LYN, CIRBP, DOCK2, HBZ, PTK6, RBM3, SDCBP, SPG7, SULT1A3, TYK2, MTA1, CHTOP, PRPF31, NPDC1, NCOA5, AEN, NABP1, PRR3, YTHDC1, CATSPER1, ZFC3H1, KHDRBS2, LINC01018, TYMSOS, ATXN2, DDX43, TMEM14B, BTRC, ATG7, WDR45B, YRDC, CRBN, PLCG1, PTER, ACOX1, CAPG, RFWD2, CUL1, SUPT5H, KLHL42, USP7, CTC1, SUZ12, ACAD11, NAGK, FOXA3, ACAA1, MAPK3, AURKA, MVKLMBRD1HNRNPC, 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


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RelatedDrugs for KHDRBS2_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

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RelatedDiseases for KHDRBS2_LMBRD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKHDRBS2C0025202melanoma1CTD_human