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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:ARMC8-RNF13 (FusionGDB2 ID:6777)

Fusion Gene Summary for ARMC8-RNF13

check button Fusion gene summary
Fusion gene informationFusion gene name: ARMC8-RNF13
Fusion gene ID: 6777
HgeneTgene
Gene symbol

ARMC8

RNF13

Gene ID

25852

11342

Gene namearmadillo repeat containing 8ring finger protein 13
SynonymsGID5|HSPC056|S863-2|VID28EIEE73|RZF
Cytomap

3q22.3

3q25.1

Type of geneprotein-codingprotein-coding
Descriptionarmadillo repeat-containing protein 8GID complex subunit 5, VID28 homologE3 ubiquitin-protein ligase RNF13RING zinc finger proteinRING-type E3 ubiquitin transferase RNF13
Modification date2020031320200313
UniProtAcc

Q8IUR7

Q8WVD3

Ensembl transtripts involved in fusion geneENST00000481646, ENST00000469044, 
ENST00000491704, ENST00000358441, 
ENST00000489213, ENST00000461822, 
ENST00000485396, ENST00000471453, 
ENST00000470821, ENST00000393058, 
ENST00000538260, 		ENST00000392894, 
ENST00000344229, ENST00000361785, 
Fusion gene scores* DoF score11 X 11 X 5=60517 X 12 X 8=1632
# samples 1317
** MAII scorelog2(13/605*10)=-2.2184235191335
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/1632*10)=-3.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARMC8 [Title/Abstract] AND RNF13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARMC8(137972604)-RNF13(149678577), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across ARMC8 (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 RNF13 (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
ChiTaRS5.0N/ADT219226ARMC8chr3

137972604

+RNF13chr3

149678577

+


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Fusion Gene ORF analysis for ARMC8-RNF13

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-3CDSENST00000481646ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000481646ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000481646ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000469044ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000469044ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000469044ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000491704ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000491704ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000491704ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000358441ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000358441ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000358441ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000489213ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000489213ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000489213ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000461822ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000461822ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000461822ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000485396ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000485396ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000485396ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000471453ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000471453ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000471453ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000470821ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000470821ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000470821ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000393058ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000393058ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000393058ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000538260ENST00000392894ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000538260ENST00000344229ARMC8chr3

137972604

+RNF13chr3

149678577

+
intron-3CDSENST00000538260ENST00000361785ARMC8chr3

137972604

+RNF13chr3

149678577

+

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 ARMC8-RNF13


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)

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 ARMC8-RNF13


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
ARMC8

Q8IUR7

RNF13

Q8WVD3

FUNCTION: Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. {ECO:0000269|PubMed:29911972}.FUNCTION: E3 ubiquitin-protein ligase involved in DNA damage response by promoting DNA resection and homologous recombination (PubMed:26502055, PubMed:26502057). Recruited to sites of double-strand breaks following DNA damage and specifically promotes double-strand break repair via homologous recombination (PubMed:26502055, PubMed:26502057). Two different, non-exclusive, mechanisms have been proposed. According to a report, regulates the choice of double-strand break repair by favoring homologous recombination over non-homologous end joining (NHEJ): acts by mediating ubiquitination of XRCC5/Ku80, leading to remove the Ku complex from DNA breaks, thereby promoting homologous recombination (PubMed:26502055). According to another report, cooperates with UBE2Ds E2 ubiquitin ligases (UBE2D1, UBE2D2, UBE2D3 or UBE2D4) to promote homologous recombination by mediating ubiquitination of RBBP8/CtIP (PubMed:26502057). Together with NLK, involved in the ubiquitination and degradation of TCF/LEF (PubMed:16714285). Also exhibits auto-ubiquitination activity in combination with UBE2K (PubMed:16714285). May act as a negative regulator in the Wnt/beta-catenin-mediated signaling pathway (PubMed:16714285). {ECO:0000269|PubMed:16714285, ECO:0000269|PubMed:26502055, ECO:0000269|PubMed:26502057}.

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 ARMC8-RNF13


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 ARMC8-RNF13


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 ARMC8-RNF13


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 ARMC8-RNF13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRNF13C0015544Failure to Thrive1GENOMICS_ENGLAND
TgeneRNF13C0018784Sensorineural Hearing Loss (disorder)1GENOMICS_ENGLAND
TgeneRNF13C0036572Seizures1GENOMICS_ENGLAND
TgeneRNF13C0232466Feeding difficulties1GENOMICS_ENGLAND
TgeneRNF13C0234398Visual Cortex Disorder1GENOMICS_ENGLAND
TgeneRNF13C0557874Global developmental delay1GENOMICS_ENGLAND
TgeneRNF13C0852413Abnormal muscle tone1GENOMICS_ENGLAND
TgeneRNF13C2677180Congenital microcephaly1GENOMICS_ENGLAND
TgeneRNF13C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneRNF13C4048268Cortical visual impairment1GENOMICS_ENGLAND