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: 35661

FusionGeneSummary for SPG11_ITGA9

check button Fusion gene summary
Fusion gene informationFusion gene name: SPG11_ITGA9
Fusion gene ID: 35661
HgeneTgene
Gene symbol

SPG11

ITGA9

Gene ID

80208

3680

Gene nameSPG11, spatacsin vesicle trafficking associatedintegrin subunit alpha 9
SynonymsALS5|CMT2X|KIAA1840ALPHA-RLC|ITGA4L|RLC
Cytomap

15q21.1

3p22.2

Type of geneprotein-codingprotein-coding
Descriptionspatacsincolorectal carcinoma-associated proteinspastic paraplegia 11 (autosomal recessive)spastic paraplegia 11 proteinintegrin alpha-9integrin alpha-RLC
Modification date2018051920180519
UniProtAcc

Q96JI7

Q13797

Ensembl transtripts involved in fusion geneENST00000261866, ENST00000535302, 
ENST00000427534, ENST00000558319, 
ENST00000558253, ENST00000559193, 
ENST00000264741, ENST00000422441, 
Fusion gene scores* DoF score5 X 5 X 3=756 X 6 X 4=144
# samples 66
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPG11 [Title/Abstract] AND ITGA9 [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
ChiTaRS3.1BF842317SPG11chr15

44876087

-ITGA9chr3

37756466

-
* 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-intronENST00000261866ENST00000264741SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000261866ENST00000422441SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000535302ENST00000264741SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000535302ENST00000422441SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000427534ENST00000264741SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000427534ENST00000422441SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000558319ENST00000264741SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000558319ENST00000422441SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000558253ENST00000264741SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000558253ENST00000422441SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000559193ENST00000264741SPG11chr15

44876087

-ITGA9chr3

37756466

-
intron-intronENST00000559193ENST00000422441SPG11chr15

44876087

-ITGA9chr3

37756466

-

Top

FusionProtFeatures for SPG11_ITGA9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPG11

Q96JI7

ITGA9

Q13797

Integrin alpha-9/beta-1 (ITGA9:ITGB1) is a receptor forVCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D-G-I-E-L in cytotactin. {ECO:0000250}.

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 SPG11_ITGA9


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 SPG11_ITGA9


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 SPG11_ITGA9


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 SPG11_ITGA9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPG11C1858479Spastic paraplegia 11, autosomal recessive1CTD_human;ORPHANET;UNIPROT
TgeneITGA9C0005586Bipolar Disorder1PSYGENET
TgeneITGA9C1839839MAJOR AFFECTIVE DISORDER 21PSYGENET