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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: 4838

FusionGeneSummary for C1orf111_SRC

check button Fusion gene summary
Fusion gene informationFusion gene name: C1orf111_SRC
Fusion gene ID: 4838
HgeneTgene
Gene symbol

C1orf111

SRC

Gene ID

284680

6714

Gene namespermatogenesis associated 46SRC proto-oncogene, non-receptor tyrosine kinase
SynonymsC1orf111|HSD20ASV|SRC1|THC6|c-SRC|p60-Src
Cytomap

1q23.3

20q11.23

Type of geneprotein-codingprotein-coding
Descriptionspermatogenesis-associated protein 46uncharacterized protein C1orf111proto-oncogene tyrosine-protein kinase Srcproto-oncogene c-Srcprotooncogene SRC, Rous sarcomatyrosine kinase pp60c-srctyrosine-protein kinase SRC-1v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog
Modification date2018052320180527
UniProtAcc

P12931

Ensembl transtripts involved in fusion geneENST00000367935, ENST00000445403, 
ENST00000373578, ENST00000360723, 
ENST00000358208, ENST00000373567, 
ENST00000373558, ENST00000477066, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 4 X 3=60
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/60*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C1orf111 [Title/Abstract] AND SRC [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
TgeneSRC

GO:0018108

peptidyl-tyrosine phosphorylation

12051764|22732588

TgeneSRC

GO:0035556

intracellular signal transduction

15248232

TgeneSRC

GO:0046777

protein autophosphorylation

16441665

TgeneSRC

GO:0071902

positive regulation of protein serine/threonine kinase activity

19059439


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
ChiTaRS3.1BF515508C1orf111chr1

162345154

+SRCchr20

35976957

+
* 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
intron-intronENST00000367935ENST00000445403C1orf111chr1

162345154

+SRCchr20

35976957

+
intron-intronENST00000367935ENST00000373578C1orf111chr1

162345154

+SRCchr20

35976957

+
intron-intronENST00000367935ENST00000360723C1orf111chr1

162345154

+SRCchr20

35976957

+
intron-intronENST00000367935ENST00000358208C1orf111chr1

162345154

+SRCchr20

35976957

+
intron-intronENST00000367935ENST00000373567C1orf111chr1

162345154

+SRCchr20

35976957

+
intron-intronENST00000367935ENST00000373558C1orf111chr1

162345154

+SRCchr20

35976957

+
intron-intronENST00000367935ENST00000477066C1orf111chr1

162345154

+SRCchr20

35976957

+

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FusionProtFeatures for C1orf111_SRC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C1orf111

SRC

P12931

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}. Non-receptor protein tyrosine kinase which is activatedfollowing engagement of many different classes of cellularreceptors including immune response receptors, integrins and otheradhesion receptors, receptor protein tyrosine kinases, G protein-coupled receptors as well as cytokine receptors. Participates insignaling pathways that control a diverse spectrum of biologicalactivities including gene transcription, immune response, celladhesion, cell cycle progression, apoptosis, migration, andtransformation. Due to functional redundancy between members ofthe SRC kinase family, identification of the specific role of eachSRC kinase is very difficult. SRC appears to be one of the primarykinases activated following engagement of receptors and plays arole in the activation of other protein tyrosine kinase (PTK)families. Receptor clustering or dimerization leads to recruitmentof SRC to the receptor complexes where it phosphorylates thetyrosine residues within the receptor cytoplasmic domains. Playsan important role in the regulation of cytoskeletal organizationthrough phosphorylation of specific substrates such as AFAP1.Phosphorylation of AFAP1 allows the SRC SH2 domain to bind AFAP1and to localize to actin filaments. Cytoskeletal reorganization isalso controlled through the phosphorylation of cortactin (CTTN)(Probable). When cells adhere via focal adhesions to theextracellular matrix, signals are transmitted by integrins intothe cell resulting in tyrosine phosphorylation of a number offocal adhesion proteins, including PTK2/FAK1 and paxillin (PXN)(PubMed:21411625). In addition to phosphorylating focal adhesionproteins, SRC is also active at the sites of cell-cell contactadherens junctions and phosphorylates substrates such as beta-catenin (CTNNB1), delta-catenin (CTNND1), and plakoglobin (JUP).Another type of cell-cell junction, the gap junction, is also atarget for SRC, which phosphorylates connexin-43 (GJA1). SRC isimplicated in regulation of pre-mRNA-processing and phosphorylatesRNA-binding proteins such as KHDRBS1 (Probable). Also plays a rolein PDGF-mediated tyrosine phosphorylation of both STAT1 and STAT3,leading to increased DNA binding activity of these transcriptionfactors (By similarity). Involved in the RAS pathway throughphosphorylation of RASA1 and RASGRF1 (PubMed:11389730). Plays arole in EGF-mediated calcium-activated chloride channel activation(PubMed:18586953). Required for epidermal growth factor receptor(EGFR) internalization through phosphorylation of clathrin heavychain (CLTC and CLTCL1) at 'Tyr-1477'. Involved in beta-arrestin(ARRB1 and ARRB2) desensitization through phosphorylation andactivation of GRK2, leading to beta-arrestin phosphorylation andinternalization. Has a critical role in the stimulation of theCDK20/MAPK3 mitogen-activated protein kinase cascade by epidermalgrowth factor (Probable). Might be involved not only in mediatingthe transduction of mitogenic signals at the level of the plasmamembrane but also in controlling progression through the cellcycle via interaction with regulatory proteins in the nucleus(PubMed:7853507). Plays an important role in osteoclastic boneresorption in conjunction with PTK2B/PYK2. Both the formation of aSRC-PTK2B/PYK2 complex and SRC kinase activity are necessary forthis function. Recruited to activated integrins by PTK2B/PYK2,thereby phosphorylating CBL, which in turn induces the activationand recruitment of phosphatidylinositol 3-kinase to the cellmembrane in a signaling pathway that is critical for osteoclastfunction (PubMed:8755529, PubMed:14585963). Promotes energyproduction in osteoclasts by activating mitochondrial cytochrome Coxidase (PubMed:12615910). Phosphorylates DDR2 on tyrosineresidues, thereby promoting its subsequent autophosphorylation(PubMed:16186108). Phosphorylates RUNX3 and COX2 on tyrosineresidues, TNK2 on 'Tyr-284' and CBL on 'Tyr-731' (PubMed:20100835,PubMed:21309750). Enhances DDX58/RIG-I-elicited antiviralsignaling (PubMed:19419966). Phosphorylates PDPK1 at 'Tyr-9','Tyr-373' and 'Tyr-376' (PubMed:14585963). Phosphorylates BCAR1 at'Tyr-128' (PubMed:22710723). Phosphorylates CBLC at multipletyrosine residues, phosphorylation at 'Tyr-341' activates CBLC E3activity (PubMed:20525694). Involved in anchorage-independent cellgrowth (PubMed:19307596). Required for podosome formation (Bysimilarity). {ECO:0000250|UniProtKB:P05480,ECO:0000269|PubMed:11389730, ECO:0000269|PubMed:12615910,ECO:0000269|PubMed:14585963, ECO:0000269|PubMed:16186108,ECO:0000269|PubMed:18586953, ECO:0000269|PubMed:19307596,ECO:0000269|PubMed:19419966, ECO:0000269|PubMed:20100835,ECO:0000269|PubMed:20525694, ECO:0000269|PubMed:21309750,ECO:0000269|PubMed:21411625, ECO:0000269|PubMed:22710723,ECO:0000269|PubMed:7853507, ECO:0000269|PubMed:8755529,ECO:0000269|PubMed:8759729, ECO:0000305|PubMed:11964124,ECO:0000305|PubMed:8672527, ECO:0000305|PubMed:9442882}.

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 C1orf111_SRC


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 C1orf111_SRC


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


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 C1orf111_SRC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSRCP12931DB06616BosutinibProto-oncogene tyrosine-protein kinase Srcsmall moleculeapproved
TgeneSRCP12931DB09079NintedanibProto-oncogene tyrosine-protein kinase Srcsmall moleculeapproved
TgeneSRCP12931DB01254DasatinibProto-oncogene tyrosine-protein kinase Srcsmall moleculeapproved|investigational
TgeneSRCP12931DB08901PonatinibProto-oncogene tyrosine-protein kinase Srcsmall moleculeapproved|investigational
TgeneSRCP12931DB04272Citric AcidProto-oncogene tyrosine-protein kinase Srcsmall moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for C1orf111_SRC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSRCC0005695Bladder Neoplasm2CTD_human
TgeneSRCC0027626Neoplasm Invasiveness2CTD_human
TgeneSRCC0009319Colitis1CTD_human
TgeneSRCC0009375Colonic Neoplasms1CTD_human
TgeneSRCC0018800Cardiomegaly1CTD_human
TgeneSRCC0038220Status Epilepticus1CTD_human
TgeneSRCC0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
TgeneSRCC1458155Mammary Neoplasms1CTD_human