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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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RelatedDiseases

Fusion gene ID: 35785

FusionGeneSummary for SPPL3_CPS1

check button Fusion gene summary
Fusion gene informationFusion gene name: SPPL3_CPS1
Fusion gene ID: 35785
HgeneTgene
Gene symbol

SPPL3

CPS1

Gene ID

121665

1373

Gene namesignal peptide peptidase like 3carbamoyl-phosphate synthase 1
SynonymsIMP2|MDHV1887|PRO4332|PSH1|PSL4CPSASE1|PHN
Cytomap

12q24.31

2q34

Type of geneprotein-codingprotein-coding
Descriptionsignal peptide peptidase-like 3SPP-like 3intramembrane protease 2presenilin homologous protein 1presenilin-like protein 4carbamoyl-phosphate synthase [ammonia], mitochondrialcarbamoyl-phosphate synthase (ammonia)carbamoyl-phosphate synthase 1, mitochondrialcarbamoylphosphate synthetase I
Modification date2018052320180523
UniProtAcc

Q8TCT6

P31327

Ensembl transtripts involved in fusion geneENST00000353487, ENST00000430249, 
ENST00000233072, ENST00000451903, 
ENST00000497121, 
Fusion gene scores* DoF score12 X 4 X 7=3364 X 3 X 4=48
# samples 114
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSPPL3

GO:0033619

membrane protein proteolysis

2313285

TgeneCPS1

GO:0032496

response to lipopolysaccharide

15897806

TgeneCPS1

GO:0050667

homocysteine metabolic process

20031578


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
TCGALDSTADTCGA-CD-8526-01ASPPL3chr12

121341648

-CPS1chr2

211421443

+
* 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
In-frameENST00000353487ENST00000430249SPPL3chr12

121341648

-CPS1chr2

211421443

+
5CDS-5UTRENST00000353487ENST00000233072SPPL3chr12

121341648

-CPS1chr2

211421443

+
5CDS-intronENST00000353487ENST00000451903SPPL3chr12

121341648

-CPS1chr2

211421443

+
5CDS-intronENST00000353487ENST00000497121SPPL3chr12

121341648

-CPS1chr2

211421443

+

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FusionProtFeatures for SPPL3_CPS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPPL3

Q8TCT6

CPS1

P31327

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.

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
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-1111_87385Topological domainLumenal
TgeneCPS1chr12:121341648chr2:211421443ENST00000233072+0381093_1284-661501DomainNote=ATP-grasp 2
TgeneCPS1chr12:121341648chr2:211421443ENST00000233072+0381355_1500-661501DomainMGS-like
TgeneCPS1chr12:121341648chr2:211421443ENST00000233072+038219_404-661501DomainNote=Glutamine amidotransferase type-1
TgeneCPS1chr12:121341648chr2:211421443ENST00000233072+038551_743-661501DomainNote=ATP-grasp 1
TgeneCPS1chr12:121341648chr2:211421443ENST00000430249+0391093_128411507DomainNote=ATP-grasp 2
TgeneCPS1chr12:121341648chr2:211421443ENST00000430249+0391355_150011507DomainMGS-like
TgeneCPS1chr12:121341648chr2:211421443ENST00000430249+039219_40411507DomainNote=Glutamine amidotransferase type-1
TgeneCPS1chr12:121341648chr2:211421443ENST00000430249+039551_74311507DomainNote=ATP-grasp 1
TgeneCPS1chr12:121341648chr2:211421443ENST00000451903+0281093_1284-1661050DomainNote=ATP-grasp 2
TgeneCPS1chr12:121341648chr2:211421443ENST00000451903+0281355_1500-1661050DomainMGS-like
TgeneCPS1chr12:121341648chr2:211421443ENST00000451903+028219_404-1661050DomainNote=Glutamine amidotransferase type-1
TgeneCPS1chr12:121341648chr2:211421443ENST00000451903+028551_743-1661050DomainNote=ATP-grasp 1
TgeneCPS1chr12:121341648chr2:211421443ENST00000233072+03839_218-661501RegionNote=Anthranilate phosphoribosyltransferase homolog
TgeneCPS1chr12:121341648chr2:211421443ENST00000430249+03939_21811507RegionNote=Anthranilate phosphoribosyltransferase homolog
TgeneCPS1chr12:121341648chr2:211421443ENST00000451903+02839_218-1661050RegionNote=Anthranilate phosphoribosyltransferase homolog

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111374_3797385Compositional biasNote=Poly-Ser
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111341_3437385MotifNote=PAL
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111119_1367385Topological domainCytoplasmic
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111160_1647385Topological domainLumenal
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111186_1907385Topological domainCytoplasmic
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111212_2627385Topological domainLumenal
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111284_3117385Topological domainCytoplasmic
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-11130_747385Topological domainCytoplasmic
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111333_3397385Topological domainLumenal
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111361_3847385Topological domainCytoplasmic
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-11196_977385Topological domainLumenal
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111137_1597385TransmembraneHelical
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111165_1857385TransmembraneHelical
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111191_2117385TransmembraneHelical
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111263_2837385TransmembraneHelical
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111312_3327385TransmembraneHelical
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-111340_3607385TransmembraneHelical
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-11175_957385TransmembraneHelical
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-11198_1187385TransmembraneHelical
HgeneSPPL3chr12:121341648chr2:211421443ENST00000353487-1119_297385TransmembraneHelical


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FusionGeneSequence for SPPL3_CPS1


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.
>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


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
SPPL3ELAVL1, CHRND, YIPF3, SLC2A12, SPPL2B, SLC6A15, GPR114, P2RX2, HTR3A, SLC15A1, TPRA1, PDCD1, SLC39A8, SLC22A16, SLC1A5, C3AR1, SLC18A1CPS1H2AFX, 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


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 SPPL3_CPS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCPS1P31327DB06775Carglumic AcidCarbamoyl-phosphate synthase [ammonia], mitochondrialsmall moleculeapproved

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RelatedDiseases for SPPL3_CPS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCPS1C4082171Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency10ORPHANET;UNIPROT
TgeneCPS1C0220994Hyperammonemia2CTD_human;HPO
TgeneCPS1C0751753Carbamoyl-Phosphate Synthase I Deficiency Disease2CTD_human;ORPHANET
TgeneCPS1C0009421Comatose1CTD_human;HPO
TgeneCPS1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCPS1C0031190Persistent Fetal Circulation Syndrome1CTD_human
TgeneCPS1C0032927Precancerous Conditions1CTD_human
TgeneCPS1C0376618Endotoxemia1CTD_human