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Fusion gene ID: 35833 |
FusionGeneSummary for SPTAN1_FPGS |
Fusion gene summary |
Fusion gene information | Fusion gene name: SPTAN1_FPGS | Fusion gene ID: 35833 | Hgene | Tgene | Gene symbol | SPTAN1 | FPGS | Gene ID | 6709 | 2356 |
Gene name | spectrin alpha, non-erythrocytic 1 | folylpolyglutamate synthase | |
Synonyms | EIEE5|NEAS|SPTA2 | - | |
Cytomap | 9q34.11 | 9q34.11 | |
Type of gene | protein-coding | protein-coding | |
Description | spectrin alpha chain, non-erythrocytic 1alpha-II spectrinalpha-fodrinfodrin alpha chainspectrin, non-erythroid alpha chainspectrin, non-erythroid alpha subunit | folylpolyglutamate synthase, mitochondrialfolylpoly-gamma-glutamate synthetasetetrahydrofolate synthasetetrahydrofolylpolyglutamate synthase | |
Modification date | 20180529 | 20180523 | |
UniProtAcc | Q13813 | Q05932 | |
Ensembl transtripts involved in fusion gene | ENST00000358161, ENST00000372739, ENST00000372731, ENST00000475367, | ENST00000373247, ENST00000373245, ENST00000393706, ENST00000460181, ENST00000373225, | |
Fusion gene scores | * DoF score | 17 X 15 X 10=2550 | 3 X 4 X 2=24 |
# samples | 21 | 4 | |
** MAII score | log2(21/2550*10)=-3.6020360140801 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SPTAN1 [Title/Abstract] AND FPGS [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 | FPGS | GO:0006536 | glutamate metabolic process | 3619447 |
Tgene | FPGS | GO:0006760 | folic acid-containing compound metabolic process | 3619447 |
Tgene | FPGS | GO:0046901 | tetrahydrofolylpolyglutamate biosynthetic process | 3619447 |
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 |
TCGA | RV | STAD | TCGA-IN-A6RN-01A | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
* 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 |
5UTR-3CDS | ENST00000358161 | ENST00000373247 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3CDS | ENST00000358161 | ENST00000373245 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3CDS | ENST00000358161 | ENST00000393706 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3UTR | ENST00000358161 | ENST00000460181 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-5UTR | ENST00000358161 | ENST00000373225 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3CDS | ENST00000372739 | ENST00000373247 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3CDS | ENST00000372739 | ENST00000373245 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3CDS | ENST00000372739 | ENST00000393706 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3UTR | ENST00000372739 | ENST00000460181 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-5UTR | ENST00000372739 | ENST00000373225 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3CDS | ENST00000372731 | ENST00000373247 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3CDS | ENST00000372731 | ENST00000373245 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3CDS | ENST00000372731 | ENST00000393706 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-3UTR | ENST00000372731 | ENST00000460181 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
5UTR-5UTR | ENST00000372731 | ENST00000373225 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
intron-3CDS | ENST00000475367 | ENST00000373247 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
intron-3CDS | ENST00000475367 | ENST00000373245 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
intron-3CDS | ENST00000475367 | ENST00000393706 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
intron-3UTR | ENST00000475367 | ENST00000460181 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
intron-5UTR | ENST00000475367 | ENST00000373225 | SPTAN1 | chr9 | 131314975 | + | FPGS | chr9 | 130566564 | + |
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FusionProtFeatures for SPTAN1_FPGS |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SPTAN1 | FPGS |
Catalyzes conversion of folates to polyglutamatederivatives allowing concentration of folate compounds in the celland the intracellular retention of these cofactors, which areimportant substrates for most of the folate-dependent enzymes thatare involved in one-carbon transfer reactions involved in purine,pyrimidine and amino acid synthesis. Unsubstituted reduced folatesare the preferred substrates. Metabolizes methotrexate (MTX) topolyglutamates. {ECO:0000269|PubMed:8408018,ECO:0000269|PubMed:8408019, ECO:0000269|PubMed:8408021,ECO:0000269|PubMed:8662720}. |
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 |
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FusionGeneSequence for SPTAN1_FPGS |
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 SPTAN1_FPGS |
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 |
SPTAN1 | FANCA, FANCC, FANCG, ERCC4, PTOV1, PIN4, DDX24, TSSC4, DES, ABL1, NEFL, SHANK3, SHANK1, EPB41, SPTB, GRIA2, EPB42, PLEC, VIM, LMNB1, ACTA1, MSN, TAF10, SOS1, STAT1, PLEKHA5, EMD, FANCF, HES1, TERF1, POT1, AGO3, TJP1, DISC1, CEP63, EXOC1, MAPK6, ARRB1, ARRB2, SIRT7, ERG, CUL3, CDK2, CUL1, COPS5, NEDD8, GRK5, CBL, UBASH3B, SHC1, SPTBN1, MYH9, SPTBN2, SARS2, PRKCDBP, PPT2, ILF2, GSPT1, RABL2A, HNRNPR, STRIP1, SFXN3, KIAA0368, MCAT, DNAJA1, HSPA5, HNRNPK, CLPTM1L, MAPRE1, DBN1, ACTA2, NENF, DDX19A, ESR1, EIF4A3, MAGOH, SMURF1, EVL, TES, HSP90AA1, HSP90AB1, MLH1, GRIN1, GRIN2A, GRIN2B, UBL4A, SVIL, PAN2, CAPN1, CASP3, CASP7, MAPK9, SAV1, CRYZ, EHBP1L1, NUP188, PLS1, PPFIA1, PPP4R1, RPS24, FAU, GPHN, PTBP1, RPA3, RPA2, RPA1, ZBTB1, STAU1, CEP57, CEP76, VCP, CANX, DHX9, NCAPD3, NUCB2, PXDN, PXDNL, RPN2, SF3B3, SPTBN5, NTRK1, PDE4D, PTEN, MED4, MED20, EWSR1, HIST1H3E, ADD1, CAPZA2, CENPE, FLNA, GAK, MYH7, MYO1C, PPP1CB, VCL, IQGAP1, PDLIM7, SYNPO, LIMA1, ANLN, MYO5C, MYO19, MYO18A, ZSCAN26, GAN, SNW1, CDC5L, U2AF2, CDH1, PDP1, PPM1B, PTP4A2, STYXL1, SPTBN4, KALRN, KARS, AKIP1, TAF1, ZNF333, FANCD2, CYLD, LASP1, TRIM25, BRCA1 | FPGS | HMGCL, PALM2, LIPH, THEM4, LAMP2, TOR1AIP2, NIT1, TRIM25 |
- 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 |
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RelatedDrugs for SPTAN1_FPGS |
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 | FPGS | Q05932 | DB00293 | Raltitrexed | Folylpolyglutamate synthase, mitochondrial | small molecule | approved|investigational |
Tgene | FPGS | Q05932 | DB00142 | Glutamic Acid | Folylpolyglutamate synthase, mitochondrial | small molecule | approved|nutraceutical |
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RelatedDiseases for SPTAN1_FPGS |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SPTAN1 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
Tgene | FPGS | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
Tgene | FPGS | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | FPGS | C0024305 | Lymphoma, Non-Hodgkin | 1 | CTD_human |
Tgene | FPGS | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |