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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: 12393

FusionGeneSummary for F11R_SPTA1

check button Fusion gene summary
Fusion gene informationFusion gene name: F11R_SPTA1
Fusion gene ID: 12393
HgeneTgene
Gene symbol

F11R

SPTA1

Gene ID

50848

6708

Gene nameF11 receptorspectrin alpha, erythrocytic 1
SynonymsCD321|JAM|JAM1|JAMA|JCAM|KAT|PAM-1EL2|HPP|HS3|SPH3|SPTA
Cytomap

1q23.3

1q23.1

Type of geneprotein-codingprotein-coding
Descriptionjunctional adhesion molecule Ajunctional adhesion molecule 1platelet F11 receptorplatelet adhesion molecule 1spectrin alpha chain, erythrocytic 1alpha-I spectrinelliptocytosis 2erythroid alpha-spectrinspectrin alpha chain, erythrocyte
Modification date2018052320180519
UniProtAcc

Q9Y624

P02549

Ensembl transtripts involved in fusion geneENST00000368026, ENST00000289779, 
ENST00000537746, ENST00000472573, 
ENST00000368147, ENST00000485680, 
Fusion gene scores* DoF score8 X 6 X 5=2403 X 3 X 3=27
# samples 103
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: F11R [Title/Abstract] AND SPTA1 [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
TCGALDLUSCTCGA-L3-A524-01AF11Rchr1

160990800

-SPTA1chr1

158631199

-
* 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
Frame-shiftENST00000368026ENST00000368147F11Rchr1

160990800

-SPTA1chr1

158631199

-
5CDS-intronENST00000368026ENST00000485680F11Rchr1

160990800

-SPTA1chr1

158631199

-
3UTR-3CDSENST00000289779ENST00000368147F11Rchr1

160990800

-SPTA1chr1

158631199

-
3UTR-intronENST00000289779ENST00000485680F11Rchr1

160990800

-SPTA1chr1

158631199

-
Frame-shiftENST00000537746ENST00000368147F11Rchr1

160990800

-SPTA1chr1

158631199

-
5CDS-intronENST00000537746ENST00000485680F11Rchr1

160990800

-SPTA1chr1

158631199

-
intron-3CDSENST00000472573ENST00000368147F11Rchr1

160990800

-SPTA1chr1

158631199

-
intron-intronENST00000472573ENST00000485680F11Rchr1

160990800

-SPTA1chr1

158631199

-

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FusionProtFeatures for F11R_SPTA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
F11R

Q9Y624

SPTA1

P02549

Seems to play a role in epithelial tight junctionformation. Appears early in primordial forms of cell junctions andrecruits PARD3 (PubMed:11489913). The association of the PARD6-PARD3 complex may prevent the interaction of PARD3 with JAM1,thereby preventing tight junction assembly (By similarity). Playsa role in regulating monocyte transmigration involved in integrityof epithelial barrier (By similarity). Ligand for integrin alpha-L/beta-2 involved in memory T-cell and neutrophil transmigration(PubMed:11812992). Involved in platelet activation(PubMed:10753840). {ECO:0000250|UniProtKB:O88792,ECO:0000269|PubMed:10753840, ECO:0000269|PubMed:11489913,ECO:0000269|PubMed:11812992}. (Microbial infection) Acts as a receptor for Mammalianreovirus sigma-1. {ECO:0000269|PubMed:11239401}. (Microbial infection) Acts as a receptor for HumanRotavirus strain Wa. {ECO:0000269|PubMed:25481868}. Spectrin is the major constituent of the cytoskeletalnetwork underlying the erythrocyte plasma membrane. It associateswith band 4.1 and actin to form the cytoskeletal superstructure ofthe erythrocyte plasma membrane.

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 F11R_SPTA1


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 F11R_SPTA1


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
F11RTJP1, SGTA, PARD3, CASK, MLLT4, ELAVL1, PEX19, BDNF, CCDC8, PICK1, TMEM216, PRKCZ, CDH1, IL12A, MBLAC2SPTA1FANCA, ERCC4, EZR, SLC9A2, ABL1, ANK1, SPTB, PLEC, NCOA3, FASLG, CBL, UBASH3B, SHC1, BTK, PTPN22, MYBL2, YWHAQ, PTPRO, GAN, SPTA1, USP11, SMARCA4, HNRNPA2B1, SMARCA2, ERCC5, ERCC6, FANCD2, RAD50, BRIP1, ERCC3, MRE11A, XRCC5, ERCC2, SPTBN4, XRCC6, RPA1, LMNA, PML, FANCG, FANCC, RAD23B, FANCF, XPA, RPSA, RAD51, ERCC1, EMD, XRCC2, RPA2, EPB41L3, ACTA1, UBE2A


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 F11R_SPTA1


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 F11R_SPTA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSPTA1C1851741ELLIPTOCYTOSIS 2 (disorder)12CTD_human;UNIPROT
TgeneSPTA1C0520739Hereditary pyropoikilocytosis1CTD_human;HPO;UNIPROT