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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: 41209

FusionGeneSummary for USP8_CLPTM1L

check button Fusion gene summary
Fusion gene informationFusion gene name: USP8_CLPTM1L
Fusion gene ID: 41209
HgeneTgene
Gene symbol

USP8

CLPTM1L

Gene ID

9101

81037

Gene nameubiquitin specific peptidase 8CLPTM1 like
SynonymsHumORF8|PITA4|SPG59|UBPYCRR9
Cytomap

15q21.2

5p15.33

Type of geneprotein-codingprotein-coding
Descriptionubiquitin carboxyl-terminal hydrolase 8deubiquitinating enzyme 8ubiquitin isopeptidase Yubiquitin thiolesterase 8ubiquitin-specific-processing protease 8cleft lip and palate transmembrane protein 1-like proteinCLPTM1-like proteincisplatin resistance related protein CRR9pcisplatin resistance-related protein 9
Modification date2018052720180519
UniProtAcc

P40818

Q96KA5

Ensembl transtripts involved in fusion geneENST00000307179, ENST00000433963, 
ENST00000396444, ENST00000425032, 
ENST00000558892, 		ENST00000320895, 
ENST00000507807, ENST00000320927, 
ENST00000506641, 
Fusion gene scores* DoF score8 X 8 X 7=44812 X 8 X 6=576
# samples 912
** MAII scorelog2(9/448*10)=-2.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: USP8 [Title/Abstract] AND CLPTM1L [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
HgeneUSP8

GO:0070536

protein K63-linked deubiquitination

16520378

HgeneUSP8

GO:0071108

protein K48-linked deubiquitination

16520378


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
TCGALDLIHCTCGA-GJ-A6C0-01AUSP8chr15

50791295

+CLPTM1Lchr5

1325931

-
* 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
3UTR-3CDSENST00000307179ENST00000320895USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000307179ENST00000507807USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000307179ENST00000320927USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-5UTRENST00000307179ENST00000506641USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000433963ENST00000320895USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000433963ENST00000507807USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000433963ENST00000320927USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-5UTRENST00000433963ENST00000506641USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000396444ENST00000320895USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000396444ENST00000507807USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000396444ENST00000320927USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-5UTRENST00000396444ENST00000506641USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000425032ENST00000320895USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000425032ENST00000507807USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-3CDSENST00000425032ENST00000320927USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
3UTR-5UTRENST00000425032ENST00000506641USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
intron-3CDSENST00000558892ENST00000320895USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
intron-3CDSENST00000558892ENST00000507807USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
intron-3CDSENST00000558892ENST00000320927USP8chr15

50791295

+CLPTM1Lchr5

1325931

-
intron-5UTRENST00000558892ENST00000506641USP8chr15

50791295

+CLPTM1Lchr5

1325931

-

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FusionProtFeatures for USP8_CLPTM1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
USP8

P40818

CLPTM1L

Q96KA5

Hydrolase that can remove conjugated ubiquitin fromproteins and therefore plays an important regulatory role at thelevel of protein turnover by preventing degradation. Converts both'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activityis enhanced in the M phase. Involved in cell proliferation.Required to enter into S phase in response to serum stimulation.May regulate T-cell anergy mediated by RNF128 via the formation ofa complex containing RNF128 and OTUB1. Probably regulates thestability of STAM2 and RASGRF1. Regulates endosomal ubiquitindynamics, cargo sorting, membrane traffic at early endosomes, andmaintenance of ESCRT-0 stability. The level of proteinubiquitination on endosomes is essential for maintaining themorphology of the organelle. Deubiquitinates EPS15 and controlestyrosine kinase stability. Removes conjugated ubiquitin from EGFRthus regulating EGFR degradation and downstream MAPK signaling.Involved in acrosome biogenesis through interaction with thespermatid ESCRT-0 complex and microtubules. DeubiquitinatesBIRC6/bruce and KIF23/MKLP1. {ECO:0000269|PubMed:16520378,ECO:0000269|PubMed:17711858, ECO:0000269|PubMed:18329369,ECO:0000269|PubMed:9628861}. Enhances cisplatin-mediated apoptosis, whenoverexpressed. {ECO:0000269|PubMed:11162647}.

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 USP8_CLPTM1L


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 USP8_CLPTM1L


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
USP8YWHAB, YWHAZ, YWHAQ, SFN, RNF41, OTUB1, RNF128, STAM2, STAM, GRB2, KIF23, BIRC6, KRT31, KRT85, KRT36, USP22, RPL6P1, AKT1, EPS15, EGFR, CHMP1B, CHMP1A, CHMP4C, CHMP7, KCNN4, YWHAG, SPP1, NBR1, USP8, UBC, CHMP2A, CHMP2B, GRAP2, PJA1, TRIM63, TRIM55, TRIM54, USP21, USP15, USP28, UBE2I, UBE2G1, FARSB, VPS4B, SRC, ERBB4, YWHAE, PTPN23, HTT, POLD3, STAT6, TSEN2, PTEN, LRIG1, TARDBP, VAMP8, PLA2G2A, SCNN1A, SCNN1B, SCNN1G, MCPH1, ACAA2, TATDN1, UBE2E1, NTRK1, HIST2H2AC, HIST2H2BE, C10orf76, PTAR1, BACE1, SNCA, CFLAR, CDH1, CD83, CBY1, RAB3IP, MAGEL2CLPTM1LPIK3C3, TMEM173, UNC93B1, SPTAN1, MRPL47, UQCRQ, GK, EMC7, NTRK1, TCTN2, TCTN3, TUBG1, ZBTB33, NCSTN, NDE1, NCDN


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 USP8_CLPTM1L


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 USP8_CLPTM1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUSP8C0221406Pituitary-dependent Cushing's disease1CTD_human;ORPHANET
HgeneUSP8C1306214ACTH-Secreting Pituitary Adenoma1CTD_human
TgeneCLPTM1LC0024121Lung Neoplasms3CTD_human
TgeneCLPTM1LC0005695Bladder Neoplasm1CTD_human
TgeneCLPTM1LC0007117Basal cell carcinoma1CTD_human
TgeneCLPTM1LC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneCLPTM1LC0007873Uterine Cervical Neoplasm1CTD_human
TgeneCLPTM1LC0023448Lymphoid leukemia1CTD_human
TgeneCLPTM1LC0026640Mouth Neoplasms1CTD_human
TgeneCLPTM1LC0033578Prostatic Neoplasms1CTD_human
TgeneCLPTM1LC0152013Adenocarcinoma of lung (disorder)1CTD_human