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Fusion gene ID: 35785 |
FusionGeneSummary for SPPL3_CPS1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SPPL3_CPS1 | Fusion gene ID: 35785 | Hgene | Tgene | Gene symbol | SPPL3 | CPS1 | Gene ID | 121665 | 1373 |
Gene name | signal peptide peptidase like 3 | carbamoyl-phosphate synthase 1 | |
Synonyms | IMP2|MDHV1887|PRO4332|PSH1|PSL4 | CPSASE1|PHN | |
Cytomap | 12q24.31 | 2q34 | |
Type of gene | protein-coding | protein-coding | |
Description | signal peptide peptidase-like 3SPP-like 3intramembrane protease 2presenilin homologous protein 1presenilin-like protein 4 | carbamoyl-phosphate synthase [ammonia], mitochondrialcarbamoyl-phosphate synthase (ammonia)carbamoyl-phosphate synthase 1, mitochondrialcarbamoylphosphate synthetase I | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q8TCT6 | P31327 | |
Ensembl transtripts involved in fusion gene | ENST00000353487, | ENST00000430249, ENST00000233072, ENST00000451903, ENST00000497121, | |
Fusion gene scores | * DoF score | 12 X 4 X 7=336 | 4 X 3 X 4=48 |
# samples | 11 | 4 | |
** MAII score | log2(11/336*10)=-1.6109577092541 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SPPL3 [Title/Abstract] AND CPS1 [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 |
Hgene | SPPL3 | GO:0033619 | membrane protein proteolysis | 2313285 |
Tgene | CPS1 | GO:0032496 | response to lipopolysaccharide | 15897806 |
Tgene | CPS1 | GO:0050667 | homocysteine metabolic process | 20031578 |
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 | LD | STAD | TCGA-CD-8526-01A | SPPL3 | chr12 | 121341648 | - | CPS1 | chr2 | 211421443 | + |
* 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 |
In-frame | ENST00000353487 | ENST00000430249 | SPPL3 | chr12 | 121341648 | - | CPS1 | chr2 | 211421443 | + |
5CDS-5UTR | ENST00000353487 | ENST00000233072 | SPPL3 | chr12 | 121341648 | - | CPS1 | chr2 | 211421443 | + |
5CDS-intron | ENST00000353487 | ENST00000451903 | SPPL3 | chr12 | 121341648 | - | CPS1 | chr2 | 211421443 | + |
5CDS-intron | ENST00000353487 | ENST00000497121 | SPPL3 | chr12 | 121341648 | - | CPS1 | chr2 | 211421443 | + |
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FusionProtFeatures for SPPL3_CPS1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SPPL3 | CPS1 |
Intramembrane-cleaving aspartic protease (I-CLiP) thatcleaves type II membrane protein substrates in or close to theirluminal transmembrane domain boundaries (PubMed:16873890,PubMed:25354954, PubMed:25827571). Acts like a sheddase bymediating the proteolytic release and secretion of active site-containing ectodomains of glycan-modifiying glycosidase andglycosyltransferase enzymes such as MGAT5, B4GAT1 and B4GALT1(PubMed:25354954, PubMed:25827571). Catalyzes the intramembranecleavage of the envelope glycoprotein gp130 and/or the leaderpeptide gp18LP of the simian foamy virus independent of priorectodomain shedding by furin or furin-like proprotein convertase(PC)-mediated cleavage proteolysis (PubMed:23132852). May alsohave the ability to serve as a shedding protease for subsequentintramembrane proteolysis by SPPL2A and SPPL2B of the envelopeglycoprotein gp130 (PubMed:23132852). Plays a role in theregulation of cellular glycosylation processes (PubMed:25354954).Required to link T-cell antigen receptor (TCR) and calcineurin-NFAT signaling cascades in lymphocytes by promoting theassociation of STIM1 and ORAI1 during store-operated calcium entry(SOCE) in a protease-independent manner (PubMed:25384971).{ECO:0000269|PubMed:16873890, ECO:0000269|PubMed:23132852,ECO:0000269|PubMed:25354954, ECO:0000269|PubMed:25384971,ECO:0000269|PubMed:25827571}. | Involved in the urea cycle of ureotelic animals wherethe enzyme plays an important role in removing excess ammonia fromthe cell. |
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 |
Hgene | SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 1_8 | 7 | 385 | Topological domain | Lumenal |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000233072 | + | 0 | 38 | 1093_1284 | -66 | 1501 | Domain | Note=ATP-grasp 2 |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000233072 | + | 0 | 38 | 1355_1500 | -66 | 1501 | Domain | MGS-like |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000233072 | + | 0 | 38 | 219_404 | -66 | 1501 | Domain | Note=Glutamine amidotransferase type-1 |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000233072 | + | 0 | 38 | 551_743 | -66 | 1501 | Domain | Note=ATP-grasp 1 |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000430249 | + | 0 | 39 | 1093_1284 | 1 | 1507 | Domain | Note=ATP-grasp 2 |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000430249 | + | 0 | 39 | 1355_1500 | 1 | 1507 | Domain | MGS-like |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000430249 | + | 0 | 39 | 219_404 | 1 | 1507 | Domain | Note=Glutamine amidotransferase type-1 |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000430249 | + | 0 | 39 | 551_743 | 1 | 1507 | Domain | Note=ATP-grasp 1 |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000451903 | + | 0 | 28 | 1093_1284 | -166 | 1050 | Domain | Note=ATP-grasp 2 |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000451903 | + | 0 | 28 | 1355_1500 | -166 | 1050 | Domain | MGS-like |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000451903 | + | 0 | 28 | 219_404 | -166 | 1050 | Domain | Note=Glutamine amidotransferase type-1 |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000451903 | + | 0 | 28 | 551_743 | -166 | 1050 | Domain | Note=ATP-grasp 1 |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000233072 | + | 0 | 38 | 39_218 | -66 | 1501 | Region | Note=Anthranilate phosphoribosyltransferase homolog |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000430249 | + | 0 | 39 | 39_218 | 1 | 1507 | Region | Note=Anthranilate phosphoribosyltransferase homolog |
Tgene | >CPS1 | chr12:121341648 | chr2:211421443 | ENST00000451903 | + | 0 | 28 | 39_218 | -166 | 1050 | Region | Note=Anthranilate phosphoribosyltransferase homolog |
- 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 |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 374_379 | 7 | 385 | Compositional bias | Note=Poly-Ser |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 341_343 | 7 | 385 | Motif | Note=PAL |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 119_136 | 7 | 385 | Topological domain | Cytoplasmic |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 160_164 | 7 | 385 | Topological domain | Lumenal |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 186_190 | 7 | 385 | Topological domain | Cytoplasmic |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 212_262 | 7 | 385 | Topological domain | Lumenal |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 284_311 | 7 | 385 | Topological domain | Cytoplasmic |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 30_74 | 7 | 385 | Topological domain | Cytoplasmic |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 333_339 | 7 | 385 | Topological domain | Lumenal |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 361_384 | 7 | 385 | Topological domain | Cytoplasmic |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 96_97 | 7 | 385 | Topological domain | Lumenal |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 137_159 | 7 | 385 | Transmembrane | Helical |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 165_185 | 7 | 385 | Transmembrane | Helical |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 191_211 | 7 | 385 | Transmembrane | Helical |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 263_283 | 7 | 385 | Transmembrane | Helical |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 312_332 | 7 | 385 | Transmembrane | Helical |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 340_360 | 7 | 385 | Transmembrane | Helical |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 75_95 | 7 | 385 | Transmembrane | Helical |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 98_118 | 7 | 385 | Transmembrane | Helical |
Hgene | >SPPL3 | chr12:121341648 | chr2:211421443 | ENST00000353487 | - | 1 | 11 | 9_29 | 7 | 385 | Transmembrane | Helical |
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FusionGeneSequence for SPPL3_CPS1 |
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. |
>In-frame_SPPL3_ENST00000353487_chr12_121341648_-_CPS1_ENST00000430249_chr2_211421443_+_1513aa MAEQTYSCHKSSKXRGFXQLSKWXGHXRLVLALPMXLHTKNGNFQDLASGSFLSRHRQHTLSWKMELRXKVTPLAIHPLLLVKWFLILAW EGTQKLLLTLPTKDRFSQWPTLLLGMVELLILLLWMNWDLANIWSLMESRFQVCWCWIIVKTTTTGWLPRVXGNGYRKKRFLQFMEWTQE CXLKXFGIRVPCLGRLNLKVSLWILWIQINRIXLLRFQPRMSKCTAKETPQKWXLXTVGLKTMXSACXXSEELKCTXFPGTMISPRWSMM GFXSREDRGTQLLQNHXFRMSERFWRVIARSHCLESVQETXXQDWLLVPKPTRCPWPTEGRISLFXISQTNRLSLLLRIMAMPWTTPSLL AGNHFLXMSTIKQMRGLCMRANPSSLCSSTQRSPRGQXTLSTCLIPFSHXXRKEKLPPLHQSYRSQHXLHLGLRFPKSLFXDQEVCPLVR LENLITQDLKLXKPXRKKMSKLFXXTQTLHQSRPMRWAXSKRILSTFFPSPLSLSQRSSRQNSQMGXFWAWVARQLXTVEWNYSREVCSR NMVXKSWELQLSPLWLRKTGSCFQINXMRSMKRLLQVLQWNRLRMHXRQQTPLATQXXSVPPMHWVGXAQASVPTERLXWTSAQRPLLXP TKFWWRSQXQVGKKXNMKWFEMLMTIVSLSVTWKMLMPWVFTQVTQLLWLLPRHSPMPSFRCXDVLQSMLFATWALWVNATFSLPFILPQ WNTASLKXMPDCPEALLWPQKPLATHWHSLLQRLPXESHFQKLRTSYPGRHQPVLNLAWITWSPRFPAGILTVFMEHLAELVALXKVXER SWLLVVPLRRVSRKLYGCATHLXKVSLPVSQXTKNGHLIXILEKSCLNQAARVSMPLPRPLMTTCPLMRLRSSHTLTSGFCIRCVIFXTW KRHXKASTVSPXQKKPXKGQRRLGSQISRFQNALGSLRPRQGSXGXRKTSTLGLNRLIHWLQNTHQXQTISMLPTMVRSMMSILMTMEXW CXAVVHITLAAVWNLIGVLSLVSAHCVNLARRRWWXIAILRLXAQTLMSVTNCTLKSCPWRESXTSTIRRHVVAASYQLEARFQTTWQFL YTRMVSRSWAQAPCRSTGLRIAPSSQLSWMSXRWLRHLGKLLILXMKHWNLQSLWTTPACXGLPMFXVGLLXMWYSLRMRXKNSXKRRLE FLRSTQWCXQNLLKGPEKXKWTLLAKMEGLSLMPSLNMLKMQVSTREMPLXCCPHKPSAKGPLKRXRMLPGRLQRLLPSLVHSTSNFLSK EMMSWXLSVTXELLDPSPLFPRLLGLTSLMWPPRXXLERMLMRNIFQHWTIPXFLLTMLQLRLPCFPGPGXGMLTPFXDVRWLPLERWLA LVKVFIQPSXRQCFPQDLRYPRKASXXASSNHSGQDSLVWLNNYTMKVSSCLPRKPHQTGSTPTMSLPPQWHGRLKKDRIPASLPSENXL |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_SPPL3_ENST00000353487_chr12_121341648_-_CPS1_ENST00000430249_chr2_211421443_+_4541nt ATGGCGGAGCAGACCTACTCGTGCCACAAATCATCAAAATGACGAGGATTTTGACAGCTTTCAAAGTGGTGAGGACACTGAAGACTGGTT TTGGCTTTACCAATGTGACTGCACACCAAAAATGGAAATTTTCAAGACCTGGCATCAGGCTCCTTTCTGTCAAGGCACAGACAGCACACA TTGTCCTGGAAGATGGAACTAAGATGAAAGGTTACTCCTTTGGCCATCCATCCTCTGTTGCTGGTGAAGTGGTTTTTAATACTGGCCTGG GAGGGTACCCAGAAGCTATTACTGACCCTGCCTACAAAGGACAGATTCTCACAATGGCCAACCCTATTATTGGGAATGGTGGAGCTCCTG ATACTACTGCTCTGGATGAACTGGGACTTAGCAAATATTTGGAGTCTAATGGAATCAAGGTTTCAGGTTTGCTGGTGCTGGATTATAGTA AAGACTACAACCACTGGCTGGCTACCAAGAGTTTAGGGCAATGGCTACAGGAAGAAAAGGTTCCTGCAATTTATGGAGTGGACACAAGAA TGCTGACTAAAATAATTCGGGATAAGGGTACCATGCTTGGGAAGATTGAATTTGAAGGTCAGCCTGTGGATTTTGTGGATCCAAATAAAC AGAATTTGATTGCTGAGGTTTCAACCAAGGATGTCAAAGTGTACGGCAAAGGAAACCCCACAAAAGTGGTAGCTGTAGACTGTGGGATTA AAAACAATGTAATCCGCCTGCTAGTAAAGCGAGGAGCTGAAGTGCACTTAGTTCCCTGGAACCATGATTTCACCAAGATGGAGTATGATG GGATTTTGATCGCGGGAGGACCGGGGAACCCAGCTCTTGCAGAACCACTAATTCAGAATGTCAGAAAGATTTTGGAGAGTGATCGCAAGG AGCCATTGTTTGGAATCAGTACAGGAAACTTAATAACAGGATTGGCTGCTGGTGCCAAAACCTACAAGATGTCCATGGCCAACAGAGGGC AGAATCAGCCTGTTTTGAATATCACAAACAAACAGGCTTTCATTACTGCTCAGAATCATGGCTATGCCTTGGACAACACCCTCCCTGCTG GCTGGAAACCACTTTTTGTGAATGTCAACGATCAAACAAATGAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACC CAGAGGTCACCCCGGGGCCAATAGACACTGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACCATTACAT CAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATTGGTCAGG CTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAACATTGCAT CAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTCATCAAGG CAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTGCTCAAGG AATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAATGAGATCA ATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATGATCCGTT CCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCTATGACCA ACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTCACTGTCT GTAACATGGAAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCCGAGTTTC AGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCTACCTCAA TGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCATTCATTG CTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGCCTGGATT ACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTAGGAGAGG TCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCC CAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGGCCA TTGATGACAACATGTCCCTTGATGAGATTGAGAAGCTCACATACATTGACAAGTGGTTTTTGTATAAGATGCGTGATATTTTAAACATGG AAAAGACACTGAAAGGCCTCAACAGTGAGTCCATGACAGAAGAAACCCTGAAAAGGGCAAAGGAGATTGGGTTCTCAGATAAGCAGATTT CAAAATGCCTTGGGCTCACTGAGGCCCAGACAAGGGAGCTGAGGTTAAAGAAAAACATCCACCCTTGGGTTAAACAGATTGATACACTGG CTGCAGAATACCCATCAGTAACAAACTATCTCTATGTTACCTACAATGGTCAGGAGCATGATGTCAATTTTGATGACCATGGAATGATGG TGCTAGGCTGTGGTCCATATCACATTGGCAGCAGTGTGGAATTTGATTGGTGTGCTGTCTCTAGTATCCGCACACTGCGTCAACTTGGCA AGAAGACGGTGGTGGTGAATTGCAATCCTGAGACTGTGAGCACAGACTTTGATGAGTGTGACAAACTGTACTTTGAAGAGTTGTCCTTGG AGAGAATCCTAGACATCTACCATCAGGAGGCATGTGGTGGCTGCATCATATCAGTTGGAGGCCAGATTCCAAACAACCTGGCAGTTCCTC TATACAAGAATGGTGTCAAGATCATGGGCACAAGCCCCCTGCAGATCGACAGGGCTGAGGATCGCTCCATCTTCTCAGCTGTCTTGGATG AGCTGAAGGTGGCTCAGGCACCTTGGAAAGCTGTTAATACTTTGAATGAAGCACTGGAATTTGCAAAGTCTGTGGACTACCCCTGCTTGT TGAGGCCTTCCTATGTTTTGAGTGGGTCTGCTATGAATGTGGTATTCTCTGAGGATGAGATGAAAAAATTCCTAGAAGAGGCGACTAGAG TTTCTCAGGAGCACCCAGTGGTGCTGACAAAATTTGTTGAAGGGGCCCGAGAAGTAGAAATGGACGCTGTTGGCAAAGATGGAAGGGTTA TCTCTCATGCCATCTCTGAACATGTTGAAGATGCAGGTGTCCACTCGGGAGATGCCACTCTGATGCTGCCCACACAAACCATCAGCCAAG GGGCCATTGAAAAGGTGAAGGATGCTACCCGGAAGATTGCAAAGGCTTTTGCCATCTCTGGTCCATTCAACGTCCAATTTCTTGTCAAAG GAAATGATGTCTTGGTGATTGAGTGTAACTTGAGAGCTTCTCGATCCTTCCCCTTTGTTTCCAAGACTCTTGGGGTTGACTTCATTGATG TGGCCACCAAGGTGATGATTGGAGAGAATGTTGATGAGAAACATCTTCCAACATTGGACCATCCCATAATTCCTGCTGACTATGTTGCAA TTAAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTGGCTTGCT TTGGTGAAGGTATTCATACAGCCTTCCTAAAGGCAATGCTTTCCACAGGATTTAAGATACCCCAGAAAGGCATCCTGATAGGCATCCAGC AATCATTCCGGCCAAGATTCCTTGGTGTGGCTGAACAATTACACAATGAAGGTTTCAAGCTGTTTGCCACGGAAGCCACATCAGACTGGC TCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAATTGATTA GAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTCGGAGGACAGCTGTTG ATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTC |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_SPPL3_ENST00000353487_chr12_121341648_-_CPS1_ENST00000430249_chr2_211421443_+_6167nt GCCCCCGCCCCTCCTCCCCTCGGCGGGTGTGATCGAGTGGCCTCGCCTCATCGCCTAGCGCCCCCCTCAGTCGCCGCCGCCTCCGCCCGC CGGCCATGTCCCCCGGCCGCCGCCGCCGCCGCCCGAGCGCGGCGCTCCCGCGGCCCCGCGCGCAGTGAGCGCGGGCCCGTCTTGCCGTTC GCCCGCCCCAGGGCCCCCTTGTTCTCCGCGCCGCCGCCGCCGCCATGTTGGGTTTGGAGCTGCAGCGGAGCCGCCGCCGCCGCCGCGGGT GAGGGAGGCCGAGAGCGGAGCCCGCCCCGCCCCGGGGCCCAGGGAGCGGGGCCGCTTCGGAGCCCGGCCTCTCCCCGCCAGCCGCCTTCC CGGCCCGCCGTGCAGCCAGCGAGCCAGCGAGCGAGCAAGCAAGCAAGCACCGGACCCCGGCCGCGCCTTCAGCTACGGCCCGAGCGAGCC CGCCGCCGCCGGGCCCGGCCACAGCCTGCAGCGGAGCCCACGAGAGGCAGCGCCATGGCGGAGCAGACCTACTCGTGCCACAAATCATCA AAATGACGAGGATTTTGACAGCTTTCAAAGTGGTGAGGACACTGAAGACTGGTTTTGGCTTTACCAATGTGACTGCACACCAAAAATGGA AATTTTCAAGACCTGGCATCAGGCTCCTTTCTGTCAAGGCACAGACAGCACACATTGTCCTGGAAGATGGAACTAAGATGAAAGGTTACT CCTTTGGCCATCCATCCTCTGTTGCTGGTGAAGTGGTTTTTAATACTGGCCTGGGAGGGTACCCAGAAGCTATTACTGACCCTGCCTACA AAGGACAGATTCTCACAATGGCCAACCCTATTATTGGGAATGGTGGAGCTCCTGATACTACTGCTCTGGATGAACTGGGACTTAGCAAAT ATTTGGAGTCTAATGGAATCAAGGTTTCAGGTTTGCTGGTGCTGGATTATAGTAAAGACTACAACCACTGGCTGGCTACCAAGAGTTTAG GGCAATGGCTACAGGAAGAAAAGGTTCCTGCAATTTATGGAGTGGACACAAGAATGCTGACTAAAATAATTCGGGATAAGGGTACCATGC TTGGGAAGATTGAATTTGAAGGTCAGCCTGTGGATTTTGTGGATCCAAATAAACAGAATTTGATTGCTGAGGTTTCAACCAAGGATGTCA AAGTGTACGGCAAAGGAAACCCCACAAAAGTGGTAGCTGTAGACTGTGGGATTAAAAACAATGTAATCCGCCTGCTAGTAAAGCGAGGAG CTGAAGTGCACTTAGTTCCCTGGAACCATGATTTCACCAAGATGGAGTATGATGGGATTTTGATCGCGGGAGGACCGGGGAACCCAGCTC TTGCAGAACCACTAATTCAGAATGTCAGAAAGATTTTGGAGAGTGATCGCAAGGAGCCATTGTTTGGAATCAGTACAGGAAACTTAATAA CAGGATTGGCTGCTGGTGCCAAAACCTACAAGATGTCCATGGCCAACAGAGGGCAGAATCAGCCTGTTTTGAATATCACAAACAAACAGG CTTTCATTACTGCTCAGAATCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAACCACTTTTTGTGAATGTCAACGATCAAA CAAATGAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGTACC TGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACCATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGG TTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATTGGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAA AAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAACATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGG ATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTCATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTG GCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTGCTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGT CCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAATGAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGA TTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATGATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCT GTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCTATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGA AAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTCACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACA CAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCCGAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCC ACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCTACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGT CCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCATTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAA TTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGCCTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACC GTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTAGGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCC AGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTA GAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGGCCATTGATGACAACATGTCCCTTGATGAGATTGAGAAGC TCACATACATTGACAAGTGGTTTTTGTATAAGATGCGTGATATTTTAAACATGGAAAAGACACTGAAAGGCCTCAACAGTGAGTCCATGA CAGAAGAAACCCTGAAAAGGGCAAAGGAGATTGGGTTCTCAGATAAGCAGATTTCAAAATGCCTTGGGCTCACTGAGGCCCAGACAAGGG AGCTGAGGTTAAAGAAAAACATCCACCCTTGGGTTAAACAGATTGATACACTGGCTGCAGAATACCCATCAGTAACAAACTATCTCTATG TTACCTACAATGGTCAGGAGCATGATGTCAATTTTGATGACCATGGAATGATGGTGCTAGGCTGTGGTCCATATCACATTGGCAGCAGTG TGGAATTTGATTGGTGTGCTGTCTCTAGTATCCGCACACTGCGTCAACTTGGCAAGAAGACGGTGGTGGTGAATTGCAATCCTGAGACTG TGAGCACAGACTTTGATGAGTGTGACAAACTGTACTTTGAAGAGTTGTCCTTGGAGAGAATCCTAGACATCTACCATCAGGAGGCATGTG GTGGCTGCATCATATCAGTTGGAGGCCAGATTCCAAACAACCTGGCAGTTCCTCTATACAAGAATGGTGTCAAGATCATGGGCACAAGCC CCCTGCAGATCGACAGGGCTGAGGATCGCTCCATCTTCTCAGCTGTCTTGGATGAGCTGAAGGTGGCTCAGGCACCTTGGAAAGCTGTTA ATACTTTGAATGAAGCACTGGAATTTGCAAAGTCTGTGGACTACCCCTGCTTGTTGAGGCCTTCCTATGTTTTGAGTGGGTCTGCTATGA ATGTGGTATTCTCTGAGGATGAGATGAAAAAATTCCTAGAAGAGGCGACTAGAGTTTCTCAGGAGCACCCAGTGGTGCTGACAAAATTTG TTGAAGGGGCCCGAGAAGTAGAAATGGACGCTGTTGGCAAAGATGGAAGGGTTATCTCTCATGCCATCTCTGAACATGTTGAAGATGCAG GTGTCCACTCGGGAGATGCCACTCTGATGCTGCCCACACAAACCATCAGCCAAGGGGCCATTGAAAAGGTGAAGGATGCTACCCGGAAGA TTGCAAAGGCTTTTGCCATCTCTGGTCCATTCAACGTCCAATTTCTTGTCAAAGGAAATGATGTCTTGGTGATTGAGTGTAACTTGAGAG CTTCTCGATCCTTCCCCTTTGTTTCCAAGACTCTTGGGGTTGACTTCATTGATGTGGCCACCAAGGTGATGATTGGAGAGAATGTTGATG AGAAACATCTTCCAACATTGGACCATCCCATAATTCCTGCTGACTATGTTGCAATTAAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGG ATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTGGCTTGCTTTGGTGAAGGTATTCATACAGCCTTCCTAAAGGCAA TGCTTTCCACAGGATTTAAGATACCCCAGAAAGGCATCCTGATAGGCATCCAGCAATCATTCCGGCCAAGATTCCTTGGTGTGGCTGAAC AATTACACAATGAAGGTTTCAAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCAT GGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCA ACAACAACACTAAATTTGTCCATGATAATTATGTGATTCGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTGA CCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAG CATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATG AATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAA AACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCT TATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATACT TTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATA GATTTAATTTATGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATT GTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTC TTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTC TCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTTATG TAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGG AATAACTTGGAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGT AAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTAC |
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FusionGenePPI for SPPL3_CPS1 |
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 |
SPPL3 | ELAVL1, CHRND, YIPF3, SLC2A12, SPPL2B, SLC6A15, GPR114, P2RX2, HTR3A, SLC15A1, TPRA1, PDCD1, SLC39A8, SLC22A16, SLC1A5, C3AR1, SLC18A1 | CPS1 | H2AFX, YWHAQ, RICTOR, RAD21, ELAVL1, MYC, FH, SEC22B, CPT1A, MRPS26, HSPA9, LRPPRC, TOMM70A, PCBP1, HSPA1A, ARAF, FBXO6, ASB1, AGO2, ARHGEF26, KIRREL2, RARS2, THBS3, HNRNPH1, HSPA4, HSPA8, HSPH1, HSPA5, DNAJC7, TUBG1, XRCC3, AP1S2, TUBA1C, ARMC6, TCF4, FOXF1, FOXG1, HSD17B10, C2orf47, UBC, KRT1, ALB, LMO2, DEFB121, BPNT1, YBEY, NDUFS7, ACSM5, TMEM70, FOXRED1, DKKL1, OTC, TES |
- 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 SPPL3_CPS1 |
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 | CPS1 | P31327 | DB06775 | Carglumic Acid | Carbamoyl-phosphate synthase [ammonia], mitochondrial | small molecule | approved |
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RelatedDiseases for SPPL3_CPS1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CPS1 | C4082171 | Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency | 10 | ORPHANET;UNIPROT |
Tgene | CPS1 | C0220994 | Hyperammonemia | 2 | CTD_human;HPO |
Tgene | CPS1 | C0751753 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 2 | CTD_human;ORPHANET |
Tgene | CPS1 | C0009421 | Comatose | 1 | CTD_human;HPO |
Tgene | CPS1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | CPS1 | C0031190 | Persistent Fetal Circulation Syndrome | 1 | CTD_human |
Tgene | CPS1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Tgene | CPS1 | C0376618 | Endotoxemia | 1 | CTD_human |