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: 31513

FusionGeneSummary for RNF213_AKAP8L

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF213_AKAP8L
Fusion gene ID: 31513
HgeneTgene
Gene symbol

RNF213

AKAP8L

Gene ID

57674

26993

Gene namering finger protein 213A-kinase anchoring protein 8 like
SynonymsALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57HA95|HAP95|NAKAP|NAKAP95
Cytomap

17q25.3

19p13.12

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterinA-kinase anchor protein 8-likeA kinase (PRKA) anchor protein 8-likeAKAP8-like proteinhelicase A-binding protein 95 kDahomologous to AKAP95 proteinneighbor of A-kinase anchoring protein 95neighbor of AKAP95testis tissue sperm-binding protein Li 90mP
Modification date2018052720180523
UniProtAcc

Q63HN8

Q9ULX6

Ensembl transtripts involved in fusion geneENST00000508628, ENST00000456466, 
ENST00000582970, ENST00000319921, 
ENST00000336301, ENST00000427003, 
ENST00000397410, ENST00000595465, 
ENST00000595879, 
Fusion gene scores* DoF score22 X 22 X 12=58086 X 4 X 7=168
# samples 307
** MAII scorelog2(30/5808*10)=-4.27500704749987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RNF213 [Title/Abstract] AND AKAP8L [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
HgeneRNF213

GO:0016567

protein ubiquitination

21799892

HgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

HgeneRNF213

GO:0051865

protein autoubiquitination

21799892

TgeneAKAP8L

GO:0006397

mRNA processing

17594903

TgeneAKAP8L

GO:0010793

regulation of mRNA export from nucleus

11402034

TgeneAKAP8L

GO:0045944

positive regulation of transcription by RNA polymerase II

11884601


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
TCGALDUCECTCGA-EY-A4KR-01ARNF213chr17

78332279

+AKAP8Lchr19

15521405

-
* 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
Frame-shitENST00000508628ENST00000397410RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
Frame-shitENST00000508628ENST00000595465RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
5CDS-intronENST00000508628ENST00000595879RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
intron-3CDSENST00000456466ENST00000397410RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
intron-3CDSENST00000456466ENST00000595465RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
intron-intronENST00000456466ENST00000595879RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
Frame-shitENST00000582970ENST00000397410RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
Frame-shitENST00000582970ENST00000595465RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
5CDS-intronENST00000582970ENST00000595879RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
intron-3CDSENST00000319921ENST00000397410RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
intron-3CDSENST00000319921ENST00000595465RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
intron-intronENST00000319921ENST00000595879RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
Frame-shitENST00000336301ENST00000397410RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
Frame-shitENST00000336301ENST00000595465RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
5CDS-intronENST00000336301ENST00000595879RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
intron-3CDSENST00000427003ENST00000397410RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
intron-3CDSENST00000427003ENST00000595465RNF213chr17

78332279

+AKAP8Lchr19

15521405

-
intron-intronENST00000427003ENST00000595879RNF213chr17

78332279

+AKAP8Lchr19

15521405

-

Top

FusionProtFeatures for RNF213_AKAP8L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF213

Q63HN8

AKAP8L

Q9ULX6

Could play a role in constitutive transport element(CTE)-mediated gene expression by association with DHX9. IncreasesCTE-dependent nuclear unspliced mRNA export (PubMed:10748171,PubMed:11402034). Proposed to target PRKACA to the nucleus butdoes not seem to be implicated in the binding of regulatorysubunit II of PKA (PubMed:10761695, PubMed:11884601). May beinvolved in nuclear envelope breakdown and chromatin condensation.May be involved in anchoring nuclear membranes to chromatin ininterphase and in releasing membranes from chromating at mitosis(PubMed:11034899). May regulate the initiation phase of DNAreplication when associated with TMPO isoform Beta(PubMed:12538639). Required for cell cycle G2/M transition andhistone deacetylation during mitosis. In mitotic cells recruitsHDAC3 to the vicinity of chromatin leading to deacetylation andsubsequent phosphorylation at 'Ser-10' of histone H3; in thisfunction seems to act redundantly with AKAP8 (PubMed:16980585).May be involved in regulation of pre-mRNA splicing(PubMed:17594903). {ECO:0000269|PubMed:10748171,ECO:0000269|PubMed:11034899, ECO:0000269|PubMed:11402034,ECO:0000269|PubMed:11884601, ECO:0000269|PubMed:12538639,ECO:0000269|PubMed:16980585, ECO:0000305|PubMed:10761695}. (Microbial infection) In case of EBV infection, maytarget PRKACA to EBNA-LP-containing nuclear sites to modulatetranscription from specific promoters.{ECO:0000269|PubMed:11884601}. (Microbial infection) Can synergize with DHX9 toactivate the CTE-mediated gene expression of type D retroviruses.{ECO:0000269|PubMed:11402034}. (Microbial infection) In case of HIV-1 infection,involved in the DHX9-promoted annealing of host tRNA(Lys3) toviral genomic RNA as a primer in reverse transcription; in vitronegatively regulates DHX9 annealing activity.{ECO:0000269|PubMed:25034436}.

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 RNF213_AKAP8L


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 RNF213_AKAP8L


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
RNF213UBC, CBX2, CBX4, CBX6, EGFR, PLAC9, RNF213, TRIM23, GOLGA2, REL, TRIM27, TRIP6, UBXN11, KRT40, CD244, SCN2B, IFI16, PTPN1, MRPL50, RNASEH2B, GAN, MCM2, ATOH1, DLK2, SIGLECL1, SDC2, LAMP3, CYLDAKAP8LMAGED1, RELA, DHX9, LBR, EMD, TMPO, CDC6, RNF43, MYC, CUL3, CUL2, CUL1, CAND1, BARD1, EPAS1, HDAC11, ANKRD28, RNF31, ILK, IRS4, SHMT2, MOV10, SUZ12, RNF2, BMI1, FBXW11, NTRK1, XPO1, MATR3, SEC16A, NF2, NANOG, RC3H1, ZNF746, PPEF2, 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


Top

RelatedDrugs for RNF213_AKAP8L


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 RNF213_AKAP8L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRNF213C1846689MOYAMOYA DISEASE 23UNIPROT