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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: 35273

FusionGeneSummary for SNX22_FXN

check button Fusion gene summary
Fusion gene informationFusion gene name: SNX22_FXN
Fusion gene ID: 35273
HgeneTgene
Gene symbol

SNX22

FXN

Gene ID

79856

2395

Gene namesorting nexin 22frataxin
Synonyms-CyaY|FA|FARR|FRDA|X25
Cytomap

15q22.31

9q21.11

Type of geneprotein-codingprotein-coding
Descriptionsorting nexin-22frataxin, mitochondrialFriedreich ataxia protein
Modification date2018051920180523
UniProtAcc

Q96L94

Q16595

Ensembl transtripts involved in fusion geneENST00000325881, ENST00000396364, 
ENST00000377270, ENST00000396366, 
ENST00000498653, 
Fusion gene scores* DoF score4 X 4 X 1=165 X 5 X 5=125
# samples 47
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/125*10)=-0.836501267717121
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SNX22 [Title/Abstract] AND FXN [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
TgeneFXN

GO:0010722

regulation of ferrochelatase activity

15123683

TgeneFXN

GO:0016540

protein autoprocessing

12785837

TgeneFXN

GO:0018283

iron incorporation into metallo-sulfur cluster

12785837

TgeneFXN

GO:0051349

positive regulation of lyase activity

20053667

TgeneFXN

GO:0070301

cellular response to hydrogen peroxide

15641778


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
ChiTaRS3.1BF752849SNX22chr15

64448323

+FXNchr9

71679561

-
* 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-intronENST00000325881ENST00000396364SNX22chr15

64448323

+FXNchr9

71679561

-
3UTR-intronENST00000325881ENST00000377270SNX22chr15

64448323

+FXNchr9

71679561

-
3UTR-intronENST00000325881ENST00000396366SNX22chr15

64448323

+FXNchr9

71679561

-
3UTR-intronENST00000325881ENST00000498653SNX22chr15

64448323

+FXNchr9

71679561

-

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FusionProtFeatures for SNX22_FXN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SNX22

Q96L94

FXN

Q16595

May be involved in several stages of intracellulartrafficking (By similarity). Interacts with membranes containingphosphatidylinositol 3-phosphate (PtdIns(3P)). {ECO:0000250}. Promotes the biosynthesis of heme and assembly andrepair of iron-sulfur clusters by delivering Fe(2+) to proteinsinvolved in these pathways. May play a role in the protectionagainst iron-catalyzed oxidative stress through its ability tocatalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric formbut not the monomeric form has in vitro ferroxidase activity. Maybe able to store large amounts of iron in the form of aferrihydrite mineral by oligomerization; however, thephysiological relevance is unsure as reports are conflicting andthe function has only been shown using heterologous overexpressionsystems. Modulates the RNA-binding activity of ACO1.{ECO:0000269|PubMed:12785837, ECO:0000269|PubMed:15247478,ECO:0000269|PubMed:15641778, ECO:0000269|PubMed:16239244,ECO:0000269|PubMed:16608849, ECO:0000269|PubMed:20053667}.

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 SNX22_FXN


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 SNX22_FXN


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


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RelatedDrugs for SNX22_FXN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFXNQ16595DB01592IronFrataxin, mitochondrialsmall moleculeapproved

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RelatedDiseases for SNX22_FXN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFXNC0016719Friedreich Ataxia8CTD_human;ORPHANET
TgeneFXNC1856689FRIEDREICH ATAXIA 16CTD_human;UNIPROT