|
Fusion gene ID: 35273 |
FusionGeneSummary for SNX22_FXN |
Fusion gene summary |
Fusion gene information | Fusion gene name: SNX22_FXN | Fusion gene ID: 35273 | Hgene | Tgene | Gene symbol | SNX22 | FXN | Gene ID | 79856 | 2395 |
Gene name | sorting nexin 22 | frataxin | |
Synonyms | - | CyaY|FA|FARR|FRDA|X25 | |
Cytomap | 15q22.31 | 9q21.11 | |
Type of gene | protein-coding | protein-coding | |
Description | sorting nexin-22 | frataxin, mitochondrialFriedreich ataxia protein | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q96L94 | Q16595 | |
Ensembl transtripts involved in fusion gene | ENST00000325881, | ENST00000396364, ENST00000377270, ENST00000396366, ENST00000498653, | |
Fusion gene scores | * DoF score | 4 X 4 X 1=16 | 5 X 5 X 5=125 |
# samples | 4 | 7 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | FXN | GO:0010722 | regulation of ferrochelatase activity | 15123683 |
Tgene | FXN | GO:0016540 | protein autoprocessing | 12785837 |
Tgene | FXN | GO:0018283 | iron incorporation into metallo-sulfur cluster | 12785837 |
Tgene | FXN | GO:0051349 | positive regulation of lyase activity | 20053667 |
Tgene | FXN | GO:0070301 | cellular response to hydrogen peroxide | 15641778 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF752849 | SNX22 | chr15 | 64448323 | + | FXN | chr9 | 71679561 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-intron | ENST00000325881 | ENST00000396364 | SNX22 | chr15 | 64448323 | + | FXN | chr9 | 71679561 | - |
3UTR-intron | ENST00000325881 | ENST00000377270 | SNX22 | chr15 | 64448323 | + | FXN | chr9 | 71679561 | - |
3UTR-intron | ENST00000325881 | ENST00000396366 | SNX22 | chr15 | 64448323 | + | FXN | chr9 | 71679561 | - |
3UTR-intron | ENST00000325881 | ENST00000498653 | SNX22 | chr15 | 64448323 | + | FXN | chr9 | 71679561 | - |
Top |
FusionProtFeatures for SNX22_FXN |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SNX22 | FXN |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for SNX22_FXN |
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 SNX22_FXN |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for SNX22_FXN |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | FXN | Q16595 | DB01592 | Iron | Frataxin, mitochondrial | small molecule | approved |
Top |
RelatedDiseases for SNX22_FXN |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | FXN | C0016719 | Friedreich Ataxia | 8 | CTD_human;ORPHANET |
Tgene | FXN | C1856689 | FRIEDREICH ATAXIA 1 | 6 | CTD_human;UNIPROT |