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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: 1746

FusionGeneSummary for ANKLE2_RNF180

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKLE2_RNF180
Fusion gene ID: 1746
HgeneTgene
Gene symbol

ANKLE2

RNF180

Gene ID

23141

285671

Gene nameankyrin repeat and LEM domain containing 2ring finger protein 180
SynonymsKIAA0692|LEMD7|Lem4|MCPH16RINES
Cytomap

12q24.33

5q12.3

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and LEM domain-containing protein 2LEM domain containing 7LEM domain-containing protein 4E3 ubiquitin-protein ligase RNF180RING-type E3 ubiquitin transferase RNF180
Modification date2018052320180523
UniProtAcc

Q86XL3

Q86T96

Ensembl transtripts involved in fusion geneENST00000539605, ENST00000357997, 
ENST00000542282, ENST00000542657, 
ENST00000542374, ENST00000337516, 
ENST00000389100, ENST00000296615, 
ENST00000381081, 
Fusion gene scores* DoF score8 X 5 X 7=2805 X 4 X 4=80
# samples 85
** MAII scorelog2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKLE2 [Title/Abstract] AND RNF180 [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
HgeneANKLE2

GO:0007417

central nervous system development

25259927

HgeneANKLE2

GO:0035307

positive regulation of protein dephosphorylation

22770216

HgeneANKLE2

GO:0042326

negative regulation of phosphorylation

22770216

HgeneANKLE2

GO:0043066

negative regulation of apoptotic process

25259927


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-H5-A2HR-01AANKLE2chr12

133311992

-RNF180chr5

63513188

+
* 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-shiftENST00000539605ENST00000389100ANKLE2chr12

133311992

-RNF180chr5

63513188

+
Frame-shiftENST00000539605ENST00000296615ANKLE2chr12

133311992

-RNF180chr5

63513188

+
Frame-shiftENST00000539605ENST00000381081ANKLE2chr12

133311992

-RNF180chr5

63513188

+
Frame-shiftENST00000357997ENST00000389100ANKLE2chr12

133311992

-RNF180chr5

63513188

+
Frame-shiftENST00000357997ENST00000296615ANKLE2chr12

133311992

-RNF180chr5

63513188

+
Frame-shiftENST00000357997ENST00000381081ANKLE2chr12

133311992

-RNF180chr5

63513188

+
intron-3CDSENST00000542282ENST00000389100ANKLE2chr12

133311992

-RNF180chr5

63513188

+
intron-3CDSENST00000542282ENST00000296615ANKLE2chr12

133311992

-RNF180chr5

63513188

+
intron-3CDSENST00000542282ENST00000381081ANKLE2chr12

133311992

-RNF180chr5

63513188

+
intron-3CDSENST00000542657ENST00000389100ANKLE2chr12

133311992

-RNF180chr5

63513188

+
intron-3CDSENST00000542657ENST00000296615ANKLE2chr12

133311992

-RNF180chr5

63513188

+
intron-3CDSENST00000542657ENST00000381081ANKLE2chr12

133311992

-RNF180chr5

63513188

+
5UTR-3CDSENST00000542374ENST00000389100ANKLE2chr12

133311992

-RNF180chr5

63513188

+
5UTR-3CDSENST00000542374ENST00000296615ANKLE2chr12

133311992

-RNF180chr5

63513188

+
5UTR-3CDSENST00000542374ENST00000381081ANKLE2chr12

133311992

-RNF180chr5

63513188

+
Frame-shiftENST00000337516ENST00000389100ANKLE2chr12

133311992

-RNF180chr5

63513188

+
Frame-shiftENST00000337516ENST00000296615ANKLE2chr12

133311992

-RNF180chr5

63513188

+
Frame-shiftENST00000337516ENST00000381081ANKLE2chr12

133311992

-RNF180chr5

63513188

+

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FusionProtFeatures for ANKLE2_RNF180


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANKLE2

Q86XL3

RNF180

Q86T96

Involved in mitotic nuclear envelope reassembly bypromoting dephosphorylation of BAF/BANF1 during mitotic exit.Coordinates the control of BAF/BANF1 dephosphorylation byinhibiting VRK1 kinase and promoting dephosphorylation ofBAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitatingnuclear envelope assembly. It is unclear whether it acts as a realPP2A regulatory subunit or whether it is involved in recruitmentof the PP2A complex. Involved in brain development(PubMed:25259927). {ECO:0000269|PubMed:22770216,ECO:0000269|PubMed:25259927}. E3 ubiquitin-protein ligase which promotespolyubiquitination and degradation by the proteasome pathway ofZIC2. {ECO:0000250|UniProtKB:Q3U827}.

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 ANKLE2_RNF180


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 ANKLE2_RNF180


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
ANKLE2PPP2CA, PPP2CB, PPP2R1A, MAPK13, ZFYVE9, ZNF512B, VCP, FGL1, STAC3, STAC, BCL2L11, NTRK1, TCTN3, EVC2, TMEM17, TMEM216, HSF2, KIF11, FAN1, ASF1A, RTEL1, MPHOSPH8, KIF26B, PTPRN2, GHITM, GLMN, PDGFRB, IL4R, ATP6V0A2, KCNA5, CNGA3, OSMR, IL17RB, TRIM25RNF180ZIC2, LYN


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 ANKLE2_RNF180


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

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RelatedDiseases for ANKLE2_RNF180


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANKLE2C4225249MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE1UNIPROT