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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: 15237

FusionGeneSummary for GPNMB_KLHL7

check button Fusion gene summary
Fusion gene informationFusion gene name: GPNMB_KLHL7
Fusion gene ID: 15237
HgeneTgene
Gene symbol

GPNMB

KLHL7

Gene ID

10457

55975

Gene nameglycoprotein nmbkelch like family member 7
SynonymsHGFIN|NMB|PLCA3CISS3|KLHL6|SBBI26
Cytomap

7p15.3

7p15.3

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane glycoprotein NMBglycoprotein (transmembrane) nmbglycoprotein nmb-like proteinglycoprotein nonmetastatic melanoma protein Bhematopoietic growth factor inducible neurokinin-1osteoactivintransmembrane glycoprotein HGFINkelch-like protein 7kelch-like 6kelch-like 7kelch/BTB
Modification date2018052320180522
UniProtAcc

Q14956

Q8IXQ5

Ensembl transtripts involved in fusion geneENST00000258733, ENST00000381990, 
ENST00000409458, ENST00000539136, 
ENST00000453162, ENST00000478451, 
ENST00000322231, ENST00000339077, 
ENST00000539124, ENST00000542558, 
ENST00000409689, ENST00000545443, 
ENST00000479288, ENST00000322275, 
ENST00000410047, ENST00000545771, 
Fusion gene scores* DoF score4 X 3 X 4=483 X 2 X 3=18
# samples 43
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GPNMB [Title/Abstract] AND KLHL7 [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
HgeneGPNMB

GO:0001818

negative regulation of cytokine production

19350579

HgeneGPNMB

GO:0001934

positive regulation of protein phosphorylation

22891158

HgeneGPNMB

GO:0030335

positive regulation of cell migration

20711474

HgeneGPNMB

GO:0031954

positive regulation of protein autophosphorylation

19350579

HgeneGPNMB

GO:0034103

regulation of tissue remodeling

25010402

HgeneGPNMB

GO:0042130

negative regulation of T cell proliferation

19350579

HgeneGPNMB

GO:2000134

negative regulation of G1/S transition of mitotic cell cycle

19350579

TgeneKLHL7

GO:0016567

protein ubiquitination

21828050


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
TCGARVCESCTCGA-DS-A7WI-01AGPNMBchr7

23293931

+KLHL7chr7

23195610

+
* 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
5CDS-intronENST00000258733ENST00000322231GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000258733ENST00000339077GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000258733ENST00000539124GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000258733ENST00000542558GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000258733ENST00000409689GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000258733ENST00000545443GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000258733ENST00000479288GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000258733ENST00000322275GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000258733ENST00000410047GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000258733ENST00000545771GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000381990ENST00000322231GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000381990ENST00000339077GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000381990ENST00000539124GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000381990ENST00000542558GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000381990ENST00000409689GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000381990ENST00000545443GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000381990ENST00000479288GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000381990ENST00000322275GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000381990ENST00000410047GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000381990ENST00000545771GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000409458ENST00000322231GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000409458ENST00000339077GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000409458ENST00000539124GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000409458ENST00000542558GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000409458ENST00000409689GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000409458ENST00000545443GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000409458ENST00000479288GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000409458ENST00000322275GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000409458ENST00000410047GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000409458ENST00000545771GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000539136ENST00000322231GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000539136ENST00000339077GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000539136ENST00000539124GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000539136ENST00000542558GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000539136ENST00000409689GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000539136ENST00000545443GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000539136ENST00000479288GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000539136ENST00000322275GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000539136ENST00000410047GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000539136ENST00000545771GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000453162ENST00000322231GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000453162ENST00000339077GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000453162ENST00000539124GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000453162ENST00000542558GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000453162ENST00000409689GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000453162ENST00000545443GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000453162ENST00000479288GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000453162ENST00000322275GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000453162ENST00000410047GPNMBchr7

23293931

+KLHL7chr7

23195610

+
5CDS-intronENST00000453162ENST00000545771GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000478451ENST00000322231GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000478451ENST00000339077GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000478451ENST00000539124GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000478451ENST00000542558GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000478451ENST00000409689GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000478451ENST00000545443GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000478451ENST00000479288GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000478451ENST00000322275GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000478451ENST00000410047GPNMBchr7

23293931

+KLHL7chr7

23195610

+
intron-intronENST00000478451ENST00000545771GPNMBchr7

23293931

+KLHL7chr7

23195610

+

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FusionProtFeatures for GPNMB_KLHL7


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

Q14956

KLHL7

Q8IXQ5

Could be a melanogenic enzyme. {ECO:0000250}. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediatingubiquitination and subsequent degradation of substrate proteins.Probably mediates 'Lys-48'-linked ubiquitination.{ECO:0000269|PubMed:21828050}.

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 GPNMB_KLHL7


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 GPNMB_KLHL7


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
GPNMBITSN2, SMAD4, IL31RA, TFEB, FBXL4, LINC01139, EGFRKLHL7CUL3, RBX1, KLHL7, UBC, MOV10, NXF1, NUP50, C9orf41, NR2C2, YWHAZ, CKAP5, NUP153, FERMT3, BOD1L1, MSRB3, KLHL6, ARIH1, SDC2, STAT5A, CEP44, GLI3


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 GPNMB_KLHL7


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 GPNMB_KLHL7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGPNMBC0009404Colorectal Neoplasms2CTD_human
HgeneGPNMBC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneGPNMBC0162557Liver Failure, Acute1CTD_human
HgeneGPNMBC1458155Mammary Neoplasms1CTD_human
HgeneGPNMBC2609414Acute kidney injury1CTD_human
TgeneKLHL7C2751986RETINITIS PIGMENTOSA 421CTD_human;UNIPROT