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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: 5001

FusionGeneSummary for C3orf72_PROS1

check button Fusion gene summary
Fusion gene informationFusion gene name: C3orf72_PROS1
Fusion gene ID: 5001
HgeneTgene
Gene symbol

C3orf72

PROS1

Gene ID

401089

5627

Gene nameFOXL2 neighborprotein S
SynonymsC3orf72PROS|PS21|PS22|PS23|PS24|PS25|PSA|THPH5|THPH6
Cytomap

3q22.3

3q11.1

Type of geneprotein-codingprotein-coding
DescriptionFOXL2 neighbor proteinFLJ43329 proteinvitamin K-dependent protein Sprotein S (alpha)protein Savitamin K-dependent plasma protein S
Modification date2018033120180522
UniProtAcc

P07225

Ensembl transtripts involved in fusion geneENST00000383165, ENST00000394236, 
ENST00000407433, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C3orf72 [Title/Abstract] AND PROS1 [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

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
TCGARVSKCMTCGA-FS-A1ZJ-06AC3orf72chr3

138666306

+PROS1chr3

93646251

-
* 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-frameENST00000383165ENST00000394236C3orf72chr3

138666306

+PROS1chr3

93646251

-
5CDS-5UTRENST00000383165ENST00000407433C3orf72chr3

138666306

+PROS1chr3

93646251

-

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FusionProtFeatures for C3orf72_PROS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C3orf72

PROS1

P07225

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Anticoagulant plasma protein; it is a cofactor toactivated protein C in the degradation of coagulation factors Vaand VIIIa. It helps to prevent coagulation and stimulatingfibrinolysis.

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
TgenePROS1chr3:138666306chr3:93646251ENST00000394236-015117_15525677DomainEGF-like 1
TgenePROS1chr3:138666306chr3:93646251ENST00000394236-015157_20025677DomainEGF-like 2%3B calcium-binding
TgenePROS1chr3:138666306chr3:93646251ENST00000394236-015201_24225677DomainEGF-like 3%3B calcium-binding
TgenePROS1chr3:138666306chr3:93646251ENST00000394236-015243_28325677DomainEGF-like 4%3B calcium-binding
TgenePROS1chr3:138666306chr3:93646251ENST00000394236-015299_47525677DomainLaminin G-like 1
TgenePROS1chr3:138666306chr3:93646251ENST00000394236-01542_8725677DomainGla
TgenePROS1chr3:138666306chr3:93646251ENST00000394236-015484_66625677DomainLaminin G-like 2
TgenePROS1chr3:138666306chr3:93646251ENST00000394236-01588_11625677RegionNote=Thrombin-sensitive

- 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 C3orf72_PROS1


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_C3orf72_ENST00000383165_chr3_138666306_+_PROS1_ENST00000394236_chr3_93646251_-_685aa
MTRTPVGSARTRPKPRKLGPQRGKALQASSRLSVLSKQQASQVLVRKRRANSLLEETKQGNLERECIEELCNKEEAREVFENDPETDTFT
PKYLVCLRSFQTGLFTAARQSTNATPDLRSCVNAIPDQCSPLPCNEDGTMSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCS
QICDNTPGSYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCKNIPGDFECECPEGYRTNLKSKSCEDIDECSENMCAQLCVNYPGG
YTCTCDGKKGFKLAQDQKSCEVVSVCLPLNLDTKTELLYLAEQFAGVVLTLKFRLPEISRFSAEFDFRTTDSEGVILYAESIDHSAWLLI
ALRGGKIEVQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKIAKEAVMDINKPGPLFKPENGLLETKVYFAGFPRKVESELIKPI
NPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVEKGSYTPGSGIAQFHIDTNNVSSAEGWHVNVTLNIRPSTGTGVMLALVSGNNT
VPFAVSLVDSTSEKSQDILLSVENTVITRIQALSLCSDQQSHLEFRVNRNNLELSTPLKIETISHEDLQRQLAVLDKAMKAKVATYLGGL


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_C3orf72_ENST00000383165_chr3_138666306_+_PROS1_ENST00000394236_chr3_93646251_-_2055nt
ATGACGAGGACCCCGGTGGGGTCTGCCCGCACCCGGCCAAAGCCCAGGAAGCTCGGGCCCCAGCGAGGAAAGGCGCTCCAAGCCTCCTCG
CGGCTTTCAGTTTTGTCAAAGCAACAGGCTTCACAAGTCCTGGTTAGGAAGCGTCGTGCAAATTCTTTACTTGAAGAAACCAAACAGGGT
AATCTTGAAAGAGAATGCATCGAAGAACTGTGCAATAAAGAAGAAGCCAGGGAGGTCTTTGAAAATGACCCGGAAACGGATTATTTTTAT
CCAAAATACTTAGTTTGTCTTCGCTCTTTTCAAACTGGGTTATTCACTGCTGCACGTCAGTCAACTAATGCTTATCCTGACCTAAGAAGC
TGTGTCAATGCCATTCCAGACCAGTGTAGTCCTCTGCCATGCAATGAAGATGGATATATGAGCTGCAAAGATGGAAAAGCTTCTTTTACT
TGCACTTGTAAACCAGGTTGGCAAGGAGAAAAGTGTGAATTTGACATAAATGAATGCAAAGATCCCTCAAATATAAATGGAGGTTGCAGT
CAAATTTGTGATAATACACCTGGAAGTTACCACTGTTCCTGTAAAAATGGTTTTGTTATGCTTTCAAATAAGAAAGATTGTAAAGATGTG
GATGAATGCTCTTTGAAGCCAAGCATTTGTGGCACAGCTGTGTGCAAGAACATCCCAGGAGATTTTGAATGTGAATGCCCCGAAGGCTAC
AGATATAATCTCAAATCAAAGTCTTGTGAAGATATAGATGAATGCTCTGAGAACATGTGTGCTCAGCTTTGTGTCAATTACCCTGGAGGT
TACACTTGCTATTGTGATGGGAAGAAAGGATTCAAACTTGCCCAAGATCAGAAGAGTTGTGAGGTTGTTTCAGTGTGCCTTCCCTTGAAC
CTTGACACAAAGTATGAATTACTTTACTTGGCGGAGCAGTTTGCAGGGGTTGTTTTATATTTAAAATTTCGTTTGCCAGAAATCAGCAGA
TTTTCAGCAGAATTTGATTTCCGGACATATGATTCAGAAGGCGTGATACTGTACGCAGAATCTATCGATCACTCAGCGTGGCTCCTGATT
GCACTTCGTGGTGGAAAGATTGAAGTTCAGCTTAAGAATGAACATACATCCAAAATCACAACTGGAGGTGATGTTATTAATAATGGTCTA
TGGAATATGGTGTCTGTGGAAGAATTAGAACATAGTATTAGCATTAAAATAGCTAAAGAAGCTGTGATGGATATAAATAAACCTGGACCC
CTTTTTAAGCCGGAAAATGGATTGCTGGAAACCAAAGTATACTTTGCAGGATTCCCTCGGAAAGTGGAAAGTGAACTCATTAAACCGATT
AACCCTCGTCTAGATGGATGTATACGAAGCTGGAATTTGATGAAGCAAGGAGCTTCTGGAATAAAGGAAATTATTCAAGAAAAACAAAAT
AAGCATTGCCTGGTTACTGTGGAGAAGGGCTCCTACTATCCTGGTTCTGGAATTGCTCAATTTCACATAGATTATAATAATGTATCCAGT
GCTGAGGGTTGGCATGTAAATGTGACCTTGAATATTCGTCCATCCACGGGCACTGGTGTTATGCTTGCCTTGGTTTCTGGTAACAACACA
GTGCCCTTTGCTGTGTCCTTGGTGGACTCCACCTCTGAAAAATCACAGGATATTCTGTTATCTGTTGAAAATACTGTAATATATCGGATA
CAGGCCCTAAGTCTATGTTCCGATCAACAATCTCATCTGGAATTTAGAGTCAACAGAAACAATCTGGAGTTGTCGACACCACTTAAAATA
GAAACCATCTCCCATGAAGACCTTCAAAGACAACTTGCCGTCTTGGACAAAGCAATGAAAGCAAAAGTGGCCACATACCTGGGTGGCCTT
CCAGATGTTCCATTCAGTGCCACACCAGTGAATGCCTTTTATAATGGCTGCATGGAAGTGAATATTAATGGTGTACAGTTGGATCTGGAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_C3orf72_ENST00000383165_chr3_138666306_+_PROS1_ENST00000394236_chr3_93646251_-_3394nt
ACTTTTTGTAAACGCCCCGCACAGCCTGGACCGGCCTGCCCCCGCCCAGCGAGCCTCAGGGGCCCAGCCGACAGCCAGGCTCACGCGCCC
TTGAAATCTGCCGGTACTCGCTCTGCGGGCTGGGCTGGGAGATGACGAGGACCCCGGTGGGGTCTGCCCGCACCCGGCCAAAGCCCAGGA
AGCTCGGGCCCCAGCGAGGAAAGGCGCTCCAAGCCTCCTCGCGGCTTTCAGTTTTGTCAAAGCAACAGGCTTCACAAGTCCTGGTTAGGA
AGCGTCGTGCAAATTCTTTACTTGAAGAAACCAAACAGGGTAATCTTGAAAGAGAATGCATCGAAGAACTGTGCAATAAAGAAGAAGCCA
GGGAGGTCTTTGAAAATGACCCGGAAACGGATTATTTTTATCCAAAATACTTAGTTTGTCTTCGCTCTTTTCAAACTGGGTTATTCACTG
CTGCACGTCAGTCAACTAATGCTTATCCTGACCTAAGAAGCTGTGTCAATGCCATTCCAGACCAGTGTAGTCCTCTGCCATGCAATGAAG
ATGGATATATGAGCTGCAAAGATGGAAAAGCTTCTTTTACTTGCACTTGTAAACCAGGTTGGCAAGGAGAAAAGTGTGAATTTGACATAA
ATGAATGCAAAGATCCCTCAAATATAAATGGAGGTTGCAGTCAAATTTGTGATAATACACCTGGAAGTTACCACTGTTCCTGTAAAAATG
GTTTTGTTATGCTTTCAAATAAGAAAGATTGTAAAGATGTGGATGAATGCTCTTTGAAGCCAAGCATTTGTGGCACAGCTGTGTGCAAGA
ACATCCCAGGAGATTTTGAATGTGAATGCCCCGAAGGCTACAGATATAATCTCAAATCAAAGTCTTGTGAAGATATAGATGAATGCTCTG
AGAACATGTGTGCTCAGCTTTGTGTCAATTACCCTGGAGGTTACACTTGCTATTGTGATGGGAAGAAAGGATTCAAACTTGCCCAAGATC
AGAAGAGTTGTGAGGTTGTTTCAGTGTGCCTTCCCTTGAACCTTGACACAAAGTATGAATTACTTTACTTGGCGGAGCAGTTTGCAGGGG
TTGTTTTATATTTAAAATTTCGTTTGCCAGAAATCAGCAGATTTTCAGCAGAATTTGATTTCCGGACATATGATTCAGAAGGCGTGATAC
TGTACGCAGAATCTATCGATCACTCAGCGTGGCTCCTGATTGCACTTCGTGGTGGAAAGATTGAAGTTCAGCTTAAGAATGAACATACAT
CCAAAATCACAACTGGAGGTGATGTTATTAATAATGGTCTATGGAATATGGTGTCTGTGGAAGAATTAGAACATAGTATTAGCATTAAAA
TAGCTAAAGAAGCTGTGATGGATATAAATAAACCTGGACCCCTTTTTAAGCCGGAAAATGGATTGCTGGAAACCAAAGTATACTTTGCAG
GATTCCCTCGGAAAGTGGAAAGTGAACTCATTAAACCGATTAACCCTCGTCTAGATGGATGTATACGAAGCTGGAATTTGATGAAGCAAG
GAGCTTCTGGAATAAAGGAAATTATTCAAGAAAAACAAAATAAGCATTGCCTGGTTACTGTGGAGAAGGGCTCCTACTATCCTGGTTCTG
GAATTGCTCAATTTCACATAGATTATAATAATGTATCCAGTGCTGAGGGTTGGCATGTAAATGTGACCTTGAATATTCGTCCATCCACGG
GCACTGGTGTTATGCTTGCCTTGGTTTCTGGTAACAACACAGTGCCCTTTGCTGTGTCCTTGGTGGACTCCACCTCTGAAAAATCACAGG
ATATTCTGTTATCTGTTGAAAATACTGTAATATATCGGATACAGGCCCTAAGTCTATGTTCCGATCAACAATCTCATCTGGAATTTAGAG
TCAACAGAAACAATCTGGAGTTGTCGACACCACTTAAAATAGAAACCATCTCCCATGAAGACCTTCAAAGACAACTTGCCGTCTTGGACA
AAGCAATGAAAGCAAAAGTGGCCACATACCTGGGTGGCCTTCCAGATGTTCCATTCAGTGCCACACCAGTGAATGCCTTTTATAATGGCT
GCATGGAAGTGAATATTAATGGTGTACAGTTGGATCTGGATGAAGCCATTTCTAAACATAATGATATTAGAGCTCACTCATGTCCATCAG
TTTGGAAAAAGACAAAGAATTCTTAAGGCATCTTTTCTCTGCTTATAATACCTTTTCCTTGTGTGTAATTATACTTATGTTTCAATAACA
GCTGAAGGGTTTTATTTACAATGTGCAGTCTTTGATTATTTTGTGGTCCTTTCCTGGGATTTTTAAAAGGTCCTTTGTCAAGGAAAAAAA
TTCTGTTGTGATATAAATCACAGTAAAGAAATTCTTACTTCTCTTGCTATCTAAGAATAGTGAAAAATAACAATTTTAAATTTGAATTTT
TTTCCTACAAATGACAGTTTCAATTTTTGTTTGTAAAACTAAATTTTAATTTTATCATCATGAACTAGTGTCTAAATACCTATGTTTTTT
TCAGAAAGCAAGGAAGTAAACTCAAACAAAAGTGCGTGTAATTAAATACTATTAATCATAGGCAGATACTATTTTGTTTATGTTTTTGTT
TTTTTCCTGATGAAGGCAGAAGAGATGGTGGTCTATTAAATATGAATTGAATGGAGGGTCCTAATGCCTTATTTCAAAACAATTCCTCAG
GGGGAACAGCTTTGGCTTCATCTTTCTCTTGTGTGGCTTCACATTTAAACCAGTATCTTTATTGAATTAGAAAACAAGTGGGACATATTT
TCCTGAGAGCAGCACAGGAATCTTCTTCTTGGCAGCTGCAGTCTGTCAGGATGAGATATCAGATTAGGTTGGATAGGTGGGGAAATCTGA
AGTGGGTACATTTTTTAAATTTTGCTGTGTGGGTCACACAAGGTCTACATTACAAAAGACAGAATTCAGGGATGGAAAGGAGAATGAACA
AATGTGGGAGTTCATAGTTTTCCTTGAATCCAACTTTTAATTACCAGAGTAAGTTGCCAAAATGTGATTGTTGAAGTACAAAAGGAACTA
TGAAAACCAGAACAAATTTTAACAAAAGGACAACCACAGAGGGATATAGTGAATATCGTATCATTGTAATCAAAGAAGTAAGGAGGTAAG
ATTGCCACGTGCCTGCTGGTACTGTGATGCATTTCAAGTGGCAGTTTTATCACGTTTGAATCTACCATTCATAGCCAGATGTGTATCAGA
TGTTTCACTGACAGTTTTTAACAATAAATTCTTTTCACTGTATTTTATATCACTTATAATAAATCGGTGTATAATTTTAAAATGCATGTG


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FusionGenePPI for C3orf72_PROS1


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
C3orf72PROS1F8, F5, NPM1, RPSA, TBK1, FBXO6, C4BPB, ZPBP2, LYZL2, TCTN2, PROC, BMP4


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 C3orf72_PROS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePROS1P07225DB00464Sodium Tetradecyl SulfateVitamin K-dependent protein Ssmall moleculeapproved|investigational
TgenePROS1P07225DB00055Drotrecogin alfaVitamin K-dependent protein Sbiotechapproved|investigational|withdrawn
TgenePROS1P07225DB00170MenadioneVitamin K-dependent protein Ssmall moleculeapproved|nutraceutical

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RelatedDiseases for C3orf72_PROS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePROS1C3278211THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT26CTD_human;UNIPROT
TgenePROS1C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgenePROS1C0040038Thromboembolism1CTD_human
TgenePROS1C0040053Thrombosis1CTD_human
TgenePROS1C0338575Sagittal Sinus Thrombosis1CTD_human
TgenePROS1C0600433Activated Protein C Resistance1CTD_human
TgenePROS1C3281092THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE1UNIPROT
TgenePROS1C3495559Juvenile arthritis1CTD_human