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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: 4834

FusionGeneSummary for C1S_PTPRO

check button Fusion gene summary
Fusion gene informationFusion gene name: C1S_PTPRO
Fusion gene ID: 4834
HgeneTgene
Gene symbol

C1S

PTPRO

Gene ID

716

10076

Gene namecomplement C1sprotein tyrosine phosphatase, receptor type U
SynonymsEDSPD2FMI|PCP-2|PTP|PTP-J|PTP-PI|PTP-RO|PTPPSI|PTPRO|PTPU2|R-PTP-PSI|R-PTP-U|hPTP-J
Cytomap

12p13.31

1p35.3

Type of geneprotein-codingprotein-coding
Descriptioncomplement C1s subcomponentC1 esterasebasic proline-rich peptide IB-1complement component 1 subcomponent scomplement component 1, s subcomponentreceptor-type tyrosine-protein phosphatase UPTP piReceptor protein tyrosine phosphatase hPTP-Jpancreatic carcinoma phosphatase 2pi R-PTP-Psiprotein-tyrosine phosphatase Jprotein-tyrosine phosphatase piprotein-tyrosine phosphatase receptor omicronr
Modification date2018052320180522
UniProtAcc

P09871

Q16827

Ensembl transtripts involved in fusion geneENST00000406697, ENST00000328916, 
ENST00000360817, ENST00000402681, 
ENST00000495061, 
ENST00000281171, 
ENST00000348962, ENST00000542557, 
ENST00000544244, ENST00000445537, 
ENST00000442921, ENST00000543886, 
ENST00000544706, 
Fusion gene scores* DoF score7 X 6 X 5=2105 X 5 X 5=125
# samples 75
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C1S [Title/Abstract] AND PTPRO [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
TgenePTPRO

GO:0006470

protein dephosphorylation

12501215

TgenePTPRO

GO:0008285

negative regulation of cell proliferation

16574648

TgenePTPRO

GO:0030336

negative regulation of cell migration

12501215|16574648

TgenePTPRO

GO:0034394

protein localization to cell surface

16574648

TgenePTPRO

GO:0060070

canonical Wnt signaling pathway

16574648

TgenePTPRO

GO:0098609

cell-cell adhesion

16574648


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
TCGALDHNSCTCGA-D6-A4ZB-01AC1Schr12

7170371

+PTPROchr12

15563214

+
* 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
5CDS-intronENST00000406697ENST00000281171C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000406697ENST00000348962C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000406697ENST00000542557C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000406697ENST00000544244C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000406697ENST00000445537C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000406697ENST00000442921C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000406697ENST00000543886C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000406697ENST00000544706C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000328916ENST00000281171C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000328916ENST00000348962C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000328916ENST00000542557C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000328916ENST00000544244C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000328916ENST00000445537C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000328916ENST00000442921C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000328916ENST00000543886C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000328916ENST00000544706C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000360817ENST00000281171C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000360817ENST00000348962C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000360817ENST00000542557C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000360817ENST00000544244C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000360817ENST00000445537C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000360817ENST00000442921C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000360817ENST00000543886C1Schr12

7170371

+PTPROchr12

15563214

+
5CDS-intronENST00000360817ENST00000544706C1Schr12

7170371

+PTPROchr12

15563214

+
5UTR-intronENST00000402681ENST00000281171C1Schr12

7170371

+PTPROchr12

15563214

+
5UTR-intronENST00000402681ENST00000348962C1Schr12

7170371

+PTPROchr12

15563214

+
5UTR-intronENST00000402681ENST00000542557C1Schr12

7170371

+PTPROchr12

15563214

+
5UTR-intronENST00000402681ENST00000544244C1Schr12

7170371

+PTPROchr12

15563214

+
5UTR-intronENST00000402681ENST00000445537C1Schr12

7170371

+PTPROchr12

15563214

+
5UTR-intronENST00000402681ENST00000442921C1Schr12

7170371

+PTPROchr12

15563214

+
5UTR-intronENST00000402681ENST00000543886C1Schr12

7170371

+PTPROchr12

15563214

+
5UTR-intronENST00000402681ENST00000544706C1Schr12

7170371

+PTPROchr12

15563214

+
intron-intronENST00000495061ENST00000281171C1Schr12

7170371

+PTPROchr12

15563214

+
intron-intronENST00000495061ENST00000348962C1Schr12

7170371

+PTPROchr12

15563214

+
intron-intronENST00000495061ENST00000542557C1Schr12

7170371

+PTPROchr12

15563214

+
intron-intronENST00000495061ENST00000544244C1Schr12

7170371

+PTPROchr12

15563214

+
intron-intronENST00000495061ENST00000445537C1Schr12

7170371

+PTPROchr12

15563214

+
intron-intronENST00000495061ENST00000442921C1Schr12

7170371

+PTPROchr12

15563214

+
intron-intronENST00000495061ENST00000543886C1Schr12

7170371

+PTPROchr12

15563214

+
intron-intronENST00000495061ENST00000544706C1Schr12

7170371

+PTPROchr12

15563214

+

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FusionProtFeatures for C1S_PTPRO


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C1S

P09871

PTPRO

Q16827

Possesses tyrosine phosphatase activity. Plays a role inregulating the glomerular pressure/filtration rate relationshipthrough an effect on podocyte structure and function (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:19167335}.

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 C1S_PTPRO


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 C1S_PTPRO


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
C1SSERPING1, C1R, C1QA, VKORC1, FN1, CCDC6, PPP4R1PTPROKIT, YWHAZ, SH3GL3, DPYSL4, DPPA4, SH3GL1, APP, VCP, VIL1, SPTA1, SYK, PTPRO, SDF2, ERLEC1, NGLY1, SDF2L1, DNAJC30, GOLIM4, TMEM246, LGALS3, TXNDC12, PDIA4, PDIA3, SEL1L, CALR, OS9, PPIB, ERP44, GPX8, B3GAT3, SIL1, CNIH4, SPCS3, DNAJB11, HYOU1, TMX1, RAB29, TMED2, UGGT1, GANAB, P4HB, NOMO1, SEP15, TMX4, UBE2G2, PDIA6, MAN1B1, NUP210L, CYP51A1, PRKCSH, HLA-C, HLA-G, MAD2L1BP, CANX, DNAJC16, RAB34, SEC61A2, AUP1, DNAJB12, PGRMC1, SDF4, C2orf47, ATP6AP1, CLN6, FKBP10, HLA-H, LMAN1, MAN1A2, SRPRB, HLA-B, ARL1, TMED10, CNNM4, HLA-A


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 C1S_PTPRO


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneC1SP09871DB00002CetuximabComplement C1s subcomponentbiotechapproved
HgeneC1SP09871DB00051AdalimumabComplement C1s subcomponentbiotechapproved
HgeneC1SP09871DB00054AbciximabComplement C1s subcomponentbiotechapproved
HgeneC1SP09871DB00073RituximabComplement C1s subcomponentbiotechapproved
HgeneC1SP09871DB06404Human C1-esterase inhibitorComplement C1s subcomponentbiotechapproved
HgeneC1SP09871DB00005EtanerceptComplement C1s subcomponentbiotechapproved|investigational
HgeneC1SP09871DB00056Gemtuzumab ozogamicinComplement C1s subcomponentbiotechapproved|investigational
HgeneC1SP09871DB00072TrastuzumabComplement C1s subcomponentbiotechapproved|investigational
HgeneC1SP09871DB00074BasiliximabComplement C1s subcomponentbiotechapproved|investigational
HgeneC1SP09871DB00075MuromonabComplement C1s subcomponentbiotechapproved|investigational
HgeneC1SP09871DB00078Ibritumomab tiuxetanComplement C1s subcomponentbiotechapproved|investigational
HgeneC1SP09871DB01593ZincComplement C1s subcomponentsmall moleculeapproved|investigational
HgeneC1SP09871DB09228Conestat alfaComplement C1s subcomponentbiotechapproved|investigational

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RelatedDiseases for C1S_PTPRO


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC1SC0004364Autoimmune Diseases1CTD_human
HgeneC1SC0241910Hepatitis, Autoimmune1CTD_human
HgeneC1SC0677607Hashimoto Disease1CTD_human;HPO
HgeneC1SC2717905Hereditary Angioedema Types I and II1CTD_human
TgenePTPROC0023903Liver neoplasms2CTD_human
TgenePTPROC0023893Liver Cirrhosis, Experimental1CTD_human
TgenePTPROC0025202melanoma1CTD_human