FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 31501

FusionGeneSummary for RNF19A_KB-1562D12.1

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF19A_KB-1562D12.1
Fusion gene ID: 31501
HgeneTgene
Gene symbol

RNF19A

KB-1562D12.1

Gene ID

25897

Gene namering finger protein 19A, RBR E3 ubiquitin protein ligase
SynonymsRNF19
Cytomap

8q22.2

Type of geneprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF19Adouble ring-finger proteinprotein p38 interacting with transcription factor Sp1ring finger protein 19ring finger protein 19A, E3 ubiquitin protein ligasering-IBR-ring domain containing protein Dorfin
Modification date20180523
UniProtAcc

Q9NV58

Ensembl transtripts involved in fusion geneENST00000341084, ENST00000519449, 
ENST00000523255, 
ENST00000520268, 
Fusion gene scores* DoF score15 X 11 X 8=13205 X 1 X 4=20
# samples 195
** MAII scorelog2(19/1320*10)=-2.79646660591487
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RNF19A [Title/Abstract] AND KB-1562D12.1 [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
TCGALDSTADTCGA-VQ-A922-01ARNF19Achr8

101322095

-KB-1562D12.1chr8

102473845

-
* 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
5UTR-5UTRENST00000341084ENST00000520268RNF19Achr8

101322095

-KB-1562D12.1chr8

102473845

-
intron-5UTRENST00000519449ENST00000520268RNF19Achr8

101322095

-KB-1562D12.1chr8

102473845

-
intron-5UTRENST00000523255ENST00000520268RNF19Achr8

101322095

-KB-1562D12.1chr8

102473845

-

Top

FusionProtFeatures for RNF19A_KB-1562D12.1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF19A

Q9NV58

KB-1562D12.1

E3 ubiquitin-protein ligase which accepts ubiquitin fromE2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form ofa thioester and then directly transfers the ubiquitin to targetedsubstrates, such as SNCAIP or CASR. Specifically ubiquitinatespathogenic SOD1 variants, which leads to their proteasomaldegradation and to neuronal protection.{ECO:0000269|PubMed:11237715, ECO:0000269|PubMed:12145308,ECO:0000269|PubMed:12750386, ECO:0000269|PubMed:15456787,ECO:0000269|PubMed:16513638}. 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}.

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


Top

FusionGeneSequence for RNF19A_KB-1562D12.1


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).

Top

FusionGenePPI for RNF19A_KB-1562D12.1


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
RNF19AUBE2L3, UBE2L6, SOD1, CASR, VCP, SNCAIP, NUDT21, ILK, RPS6KA5, MAP3K7, C11orf58, ZAKKB-1562D12.1


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


Top

RelatedDrugs for RNF19A_KB-1562D12.1


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

Top

RelatedDiseases for RNF19A_KB-1562D12.1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource