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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: 35715

FusionGeneSummary for SPIRE1_CUBN

check button Fusion gene summary
Fusion gene informationFusion gene name: SPIRE1_CUBN
Fusion gene ID: 35715
HgeneTgene
Gene symbol

SPIRE1

CUBN

Gene ID

56907

8029

Gene namespire type actin nucleation factor 1cubilin
SynonymsSpir-1IFCR|MGA1|gp280
Cytomap

18p11.21

10p13

Type of geneprotein-codingprotein-coding
Descriptionprotein spire homolog 1spire actin nucleation factor 1spire family actin nucleation factor 1spire homolog 1cubilin460 kDa receptorcubilin (intrinsic factor-cobalamin receptor)cubilin precursor variant 1cubilin precursor variant 2cubilin precursor variant 3intestinal intrinsic factor receptorintrinsic factor-vitamin B12 receptor
Modification date2018051920180519
UniProtAcc

Q08AE8

O60494

Ensembl transtripts involved in fusion geneENST00000409402, ENST00000410092, 
ENST00000309836, ENST00000453447, 
ENST00000383356, ENST00000464481, 
ENST00000377833, ENST00000377823, 
Fusion gene scores* DoF score5 X 5 X 4=1004 X 4 X 3=48
# samples 54
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPIRE1 [Title/Abstract] AND CUBN [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
TCGALDBRCATCGA-A7-A6VX-01ASPIRE1chr18

12449244

-CUBNchr10

16878381

-
* 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-3CDSENST00000409402ENST00000377833SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-intronENST00000409402ENST00000377823SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-3CDSENST00000410092ENST00000377833SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-intronENST00000410092ENST00000377823SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-3CDSENST00000309836ENST00000377833SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-intronENST00000309836ENST00000377823SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-3CDSENST00000453447ENST00000377833SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-intronENST00000453447ENST00000377823SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-3CDSENST00000383356ENST00000377833SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-intronENST00000383356ENST00000377823SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-3CDSENST00000464481ENST00000377833SPIRE1chr18

12449244

-CUBNchr10

16878381

-
intron-intronENST00000464481ENST00000377823SPIRE1chr18

12449244

-CUBNchr10

16878381

-

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FusionProtFeatures for SPIRE1_CUBN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPIRE1

Q08AE8

CUBN

O60494

Acts as an actin nucleation factor, remains associatedwith the slow-growing pointed end of the new filament. Involved inintracellular vesicle transport along actin fibers, providing anovel link between actin cytoskeleton dynamics and intracellulartransport. Required for asymmetric spindle positioning andasymmetric cell division during meiosis. Required for normalformation of the cleavage furrow and for polar body extrusionduring female germ cell meiosis. {ECO:0000269|PubMed:11747823,ECO:0000269|PubMed:21620703}. Cotransporter which plays a role in lipoprotein, vitaminand iron metabolism, by facilitating their uptake. Binds to ALB,MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1,APOA1, high density lipoprotein, and the GIF-cobalamin complex.The binding of all ligands requires calcium. Serves as importanttransporter in several absorptive epithelia, including intestine,renal proximal tubules and embryonic yolk sac. Interaction withLRP2 mediates its trafficking throughout vesicles and facilitatesthe uptake of specific ligands like GC, hemoglobin, ALB, TF andSCGB1A1. Interaction with AMN controls its trafficking to theplasma membrane and facilitates endocytosis of ligands. May playan important role in the development of the peri-implantationembryo through internalization of APOA1 and cholesterol. Binds toLGALS3 at the maternal-fetal interface.{ECO:0000269|PubMed:10371504, ECO:0000269|PubMed:11606717,ECO:0000269|PubMed:11717447, ECO:0000269|PubMed:14576052,ECO:0000269|PubMed:9572993}.

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 SPIRE1_CUBN


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 SPIRE1_CUBN


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
SPIRE1YWHAQ, SFN, FBXW11, BCL7A, BCL7C, TMOD3, CBY1, TRIM25CUBNGC, GIF, SCGB1A1, RRP1B, CUBN, CBL, LRP1, PID1, BRCA1


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 SPIRE1_CUBN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCUBNO60494DB00200HydroxocobalaminCubilinsmall moleculeapproved

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RelatedDiseases for SPIRE1_CUBN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCUBNC0025202melanoma1CTD_human
TgeneCUBNC0236733Amphetamine-Related Disorders1CTD_human
TgeneCUBNC1306856Megaloblastic anemia due to inborn errors of metabolism1CTD_human;ORPHANET;UNIPROT