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: 41200

FusionGeneSummary for USP6NL_SPIN1

check button Fusion gene summary
Fusion gene informationFusion gene name: USP6NL_SPIN1
Fusion gene ID: 41200
HgeneTgene
Gene symbol

USP6NL

SPIN1

Gene ID

9712

83985

Gene nameUSP6 N-terminal likesphingolipid transporter 1 (putative)
SynonymsRNTRE|TRE2NL|USP6NL-IT1HSpin1|LAT|PP2030|SPIN1|SPINL|nrs
Cytomap

10p14

16p11.2

Type of geneprotein-codingprotein-coding
DescriptionUSP6 N-terminal-like proteinrelated to the N-terminus of treprotein spinster homolog 1SPNS sphingolipid transporter 1 (putative)spinster homolog 1spinster-like protein 1
Modification date2018052320180522
UniProtAcc

Q92738

Q9Y657

Ensembl transtripts involved in fusion geneENST00000609104, ENST00000277575, 
ENST00000379237, ENST00000443016, 
ENST00000609853, 		ENST00000375859, 
ENST00000541629, ENST00000469017, 
Fusion gene scores* DoF score17 X 12 X 9=18365 X 6 X 1=30
# samples 186
** MAII scorelog2(18/1836*10)=-3.35049724708413
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/30*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: USP6NL [Title/Abstract] AND SPIN1 [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
HgeneUSP6NL

GO:0043547

positive regulation of GTPase activity

17562788


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
ChiTaRS3.1BE702115USP6NLchr10

11606478

-SPIN1chr9

91092902

+
* 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-3UTRENST00000609104ENST00000375859USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-intronENST00000609104ENST00000541629USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-intronENST00000609104ENST00000469017USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-3UTRENST00000277575ENST00000375859USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-intronENST00000277575ENST00000541629USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-intronENST00000277575ENST00000469017USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-3UTRENST00000379237ENST00000375859USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-intronENST00000379237ENST00000541629USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-intronENST00000379237ENST00000469017USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-3UTRENST00000443016ENST00000375859USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-intronENST00000443016ENST00000541629USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-intronENST00000443016ENST00000469017USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-3UTRENST00000609853ENST00000375859USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-intronENST00000609853ENST00000541629USP6NLchr10

11606478

-SPIN1chr9

91092902

+
intron-intronENST00000609853ENST00000469017USP6NLchr10

11606478

-SPIN1chr9

91092902

+

Top

FusionProtFeatures for USP6NL_SPIN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
USP6NL

Q92738

SPIN1

Q9Y657

Acts as a GTPase-activating protein for RAB5A and RAB43.Involved in receptor trafficking. In complex with EPS8 inhibitsinternalization of EGFR. Involved in retrograde transport from theendocytic pathway to the Golgi apparatus. Involved in thetransport of Shiga toxin from early and recycling endosomes to thetrans-Golgi network. Required for structural integrity of theGolgi complex. {ECO:0000269|PubMed:11099046,ECO:0000269|PubMed:17562788, ECO:0000269|PubMed:17684057}. Chromatin reader that specifically recognizes and bindshistone H3 both trimethylated at 'Lys-4' and asymmetricallydimethylated at 'Arg-8' (H3K4me3 and H3R8me2a) and acts as anactivator of Wnt signaling pathway downstream of PRMT2. In case ofcancer, promotes cell cancer proliferation via activation of theWnt signaling pathway (PubMed:24589551). Overexpression inducesmetaphase arrest and chromosomal instability. Localizes to activerDNA loci and promotes the expression of rRNA genes(PubMed:21960006). May play a role in cell-cycle regulation duringthe transition from gamete to embryo. Involved in oocyte meioticresumption, a process that takes place before ovulation to resumemeiosis of oocytes blocked in prophase I: may act by regulatingmaternal transcripts to control meiotic resumption.{ECO:0000269|PubMed:21960006, ECO:0000269|PubMed:22258766,ECO:0000269|PubMed:24589551, ECO:0000269|PubMed:29061846}.

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 USP6NL_SPIN1


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 USP6NL_SPIN1


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 USP6NL_SPIN1


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 USP6NL_SPIN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUSP6NLC0025202melanoma1CTD_human