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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:RNF216-ST14 (FusionGDB2 ID:74558)

Fusion Gene Summary for RNF216-ST14

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF216-ST14
Fusion gene ID: 74558
HgeneTgene
Gene symbol

RNF216

ST14

Gene ID

54476

6768

Gene namering finger protein 216suppression of tumorigenicity 14
SynonymsCAHH|TRIAD3|U7I1|UBCE7IP1|ZINARCI11|HAI|MT-SP1|MTSP1|PRSS14|SNC19|TADG15|TMPRSS14
Cytomap

7p22.1

11q24.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF216RING-type E3 ubiquitin transferase RNF216triad domain-containing protein 3ubiquitin-conjugating enzyme 7-interacting protein 1zinc finger protein inhibiting NF-kappa-Bsuppressor of tumorigenicity 14 proteinmembrane-type serine protease 1prostaminserine protease 14serine protease TADG-15suppression of tumorigenicity 14 (colon carcinoma)suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin)tumor a
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000425013, ENST00000389902, 
ENST00000469375, 
ENST00000278742, 
Fusion gene scores* DoF score12 X 13 X 9=14048 X 6 X 5=240
# samples 158
** MAII scorelog2(15/1404*10)=-3.22650852980868
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RNF216 [Title/Abstract] AND ST14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRNF216(5751392)-ST14(130058009), # samples:3
Anticipated loss of major functional domain due to fusion event.RNF216-ST14 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgeneRNF216

GO:0032648

regulation of interferon-beta production

19893624

HgeneRNF216

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

19893624

HgeneRNF216

GO:0050691

regulation of defense response to virus by host

19893624

HgeneRNF216

GO:0070936

protein K48-linked ubiquitination

19893624

TgeneST14

GO:0006508

proteolysis

19911255


check buttonFusion gene breakpoints across RNF216 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ST14 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-B6-A0IM-01ARNF216chr7

5751392

-ST14chr11

130058009

+
ChimerDB4BRCATCGA-B6-A0IM-01ARNF216chr7

5751392

-ST14chr11

130058009

+
ChimerDB4BRCATCGA-B6-A0IM-01ARNF216chr7

5751392

-ST14chr11

130058009

+


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Fusion Gene ORF analysis for RNF216-ST14

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
Frame-shiftENST00000425013ENST00000278742RNF216chr7

5751392

-ST14chr11

130058009

+
Frame-shiftENST00000389902ENST00000278742RNF216chr7

5751392

-ST14chr11

130058009

+
intron-3CDSENST00000469375ENST00000278742RNF216chr7

5751392

-ST14chr11

130058009

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for RNF216-ST14


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
RNF216chr75751391-ST14chr11130058008+3.81E-060.9999962
RNF216chr75751391-ST14chr11130058008+3.81E-060.9999962

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for RNF216-ST14


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for RNF216-ST14


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for RNF216-ST14


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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Related Drugs for RNF216-ST14


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for RNF216-ST14


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRNF216C1859305Cerebellar Ataxia and Hypogonadotropic Hypogonadism2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneST14C1835851Ichthyosis with hypotrichosis, autosomal recessive3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneST14C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneST14C0033578Prostatic Neoplasms1CTD_human
TgeneST14C0265962Ichthyosis linearis circumflexa1CTD_human
TgeneST14C0376358Malignant neoplasm of prostate1CTD_human