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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: 31723

FusionGeneSummary for RORC_S100A7

check button Fusion gene summary
Fusion gene informationFusion gene name: RORC_S100A7
Fusion gene ID: 31723
HgeneTgene
Gene symbol

RORC

S100A7

Gene ID

6097

6278

Gene nameRAR related orphan receptor CS100 calcium binding protein A7
SynonymsIMD42|NR1F3|RORG|RZR-GAMMA|RZRG|TORPSOR1|S100A7c
Cytomap

1q21.3

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionnuclear receptor ROR-gammaRAR-related orphan nuclear receptor variant 2RAR-related orphan receptor Cnuclear receptor RZR-gammanuclear receptor subfamily 1 group F member 3retinoic acid-binding receptor gammaretinoid-related orphan receptor gammaprotein S100-A7psoriasin 1
Modification date2018052320180527
UniProtAcc

P51449

P31151

Ensembl transtripts involved in fusion geneENST00000356728, ENST00000392697, 
ENST00000318247, ENST00000480719, 
ENST00000368722, ENST00000368723, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 1 X 2=4
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/4*10)=2.32192809488736
Context

PubMed: RORC [Title/Abstract] AND S100A7 [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
HgeneRORC

GO:0000122

negative regulation of transcription by RNA polymerase II

20427770

HgeneRORC

GO:0036315

cellular response to sterol

19965867

TgeneS100A7

GO:0000302

response to reactive oxygen species

16082188

TgeneS100A7

GO:0010820

positive regulation of T cell chemotaxis

18606705

TgeneS100A7

GO:0051238

sequestering of metal ion

15568027

TgeneS100A7

GO:0070374

positive regulation of ERK1 and ERK2 cascade

18606705

TgeneS100A7

GO:0071624

positive regulation of granulocyte chemotaxis

18606705

TgeneS100A7

GO:0090026

positive regulation of monocyte chemotaxis

18606705


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
TCGALDLIHCTCGA-KR-A7K8-01ARORCchr1

151801905

-S100A7chr1

153431506

-
* 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-5UTRENST00000356728ENST00000368722RORCchr1

151801905

-S100A7chr1

153431506

-
intron-5UTRENST00000356728ENST00000368723RORCchr1

151801905

-S100A7chr1

153431506

-
5CDS-5UTRENST00000392697ENST00000368722RORCchr1

151801905

-S100A7chr1

153431506

-
5CDS-5UTRENST00000392697ENST00000368723RORCchr1

151801905

-S100A7chr1

153431506

-
5CDS-5UTRENST00000318247ENST00000368722RORCchr1

151801905

-S100A7chr1

153431506

-
5CDS-5UTRENST00000318247ENST00000368723RORCchr1

151801905

-S100A7chr1

153431506

-
intron-5UTRENST00000480719ENST00000368722RORCchr1

151801905

-S100A7chr1

153431506

-
intron-5UTRENST00000480719ENST00000368723RORCchr1

151801905

-S100A7chr1

153431506

-

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FusionProtFeatures for RORC_S100A7


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

P51449

S100A7

P31151

Nuclear receptor that binds DNA as a monomer to RORresponse elements (RORE) containing a single core motif half-site5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulatorof cellular differentiation, immunity, peripheral circadian rhythmas well as lipid, steroid, xenobiotics and glucose metabolism(PubMed:19381306, PubMed:19965867, PubMed:22789990,PubMed:26160376, PubMed:20203100). Considered to have intrinsictranscriptional activity, have some natural ligands likeoxysterols that act as agonists (25-hydroxycholesterol) or inverseagonists (7-oxygenated sterols), enhancing or repressing thetranscriptional activity, respectively (PubMed:19965867,PubMed:22789990). Recruits distinct combinations of cofactors totarget gene regulatory regions to modulate their transcriptionalexpression, depending on the tissue, time and promoter contexts.Regulates the circadian expression of clock genes such as CRY1,ARNTL/BMAL1 and NR1D1 in peripheral tissues and in a tissue-selective manner. Competes with NR1D1 for binding to their sharedDNA response element on some clock genes such as ARNTL/BMAL1, CRY1and NR1D1 itself, resulting in NR1D1-mediated repression or RORC-mediated activation of the expression, leading to the circadianpattern of clock genes expression. Therefore influences the periodlength and stability of the clock. Involved in the regulation ofthe rhythmic expression of genes involved in glucose and lipidmetabolism, including PLIN2 and AVPR1A (PubMed:19965867). Negativeregulator of adipocyte differentiation through the regulation ofearly phase genes expression, such as MMP3. Controls adipogenesisas well as adipocyte size and modulates insulin sensitivity inobesity. In liver, has specific and redundant functions with RORAas positive or negative modulator of expression of genes encodingphase I and Phase II proteins involved in the metabolism oflipids, steroids and xenobiotics, such as SULT1E1. Also plays alsoa role in the regulation of hepatocyte glucose metabolism throughthe regulation of G6PC and PCK1 (PubMed:19965867). Regulates therhythmic expression of PROX1 and promotes its nuclear localization(PubMed:19381306, PubMed:19965867, PubMed:22789990,PubMed:26160376, PubMed:20203100). Plays an indispensable role inthe induction of IFN-gamma dependent anti-mycobacterial systemicimmunity (PubMed:26160376). {ECO:0000250|UniProtKB:P51450,ECO:0000269|PubMed:19381306, ECO:0000269|PubMed:19965867,ECO:0000269|PubMed:20203100, ECO:0000269|PubMed:22789990,ECO:0000269|PubMed:26160376}. Isoform 2: Essential for thymopoiesis and thedevelopment of several secondary lymphoid tissues, including lymphnodes and Peyer's patches. Required for the generation of LTi(lymphoid tissue inducer) cells. Regulates thymocyte survivalthrough DNA-binding on ROREs of target gene promoter regions andrecruitment of coactivaros via the AF-2. Also plays a key role,downstream of IL6 and TGFB and synergistically with RORA, forlineage specification of uncommitted CD4(+) T-helper (T(H)) cellsinto T(H)17 cells, antagonizing the T(H)1 program. Probablyregulates IL17 and IL17F expression on T(H) by binding to theessential enhancer conserved non-coding sequence 2 (CNS2) in theIL17-IL17F locus. May also play a role in the pre-TCR activationcascade leading to the maturation of alpha/beta T-cells and mayparticipate in the regulation of DNA accessibility in the TCR-J(alpha) locus. {ECO:0000269|PubMed:21499262}.

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 RORC_S100A7


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 RORC_S100A7


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
RORCNCOA6, EVI2A, CIPC, CSNK1E, DEC1, BHLHE41, NPAS2, NR1D2, PPP1CA, PPP1CC, PPP2R1B, PPP2R5D, PPP2R5E, PER2, RORB, ARNTL, PPP2R1A, ARNTL2, CLOCK, FBXL15, PPP1CB, PPP2CA, PSMC5, USP4, TRAF5, EP300, HDAC1, SRC, USP15, SCGB1D2, ANKHD1-EIF4EBP3, CTSA, TP53, GLB1S100A7RANBP9, PAK7, FABP5, COPS5, TERF1, TERF2, POT1, UCHL5, CUL4B, CUL5, DCUN1D1, SHC1, ESR1, IFIT1, METTL23, CFTR, EGFR, SUSD3, CA8, MMRN1, DDX19B, HOXD10, KIR3DS1, ELMOD3, TFG, KCNIP2, C16orf70, WIPI1, RASSF7, RASSF9, RASSF10, XPO1, ZIC1, TBC1D22B, PDE4DIP, MRPL38, FAM60A, ZNF354C, RNF25, CDK15, KIAA0907, CD22, AIRE, STARD13, TRIM25


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 RORC_S100A7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneS100A7P31151DB01593ZincProtein S100-A7small moleculeapproved|investigational

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RelatedDiseases for RORC_S100A7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRORCC0021368Inflammation1CTD_human
HgeneRORCC0877792Sleep Disorders, Circadian Rhythm1CTD_human
HgeneRORCC4225266IMMUNODEFICIENCY 421UNIPROT
TgeneS100A7C0033860Psoriasis1CTD_human