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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: 1807

FusionGeneSummary for ANKRD17_RPRD1B

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKRD17_RPRD1B
Fusion gene ID: 1807
HgeneTgene
Gene symbol

ANKRD17

RPRD1B

Gene ID

26057

58490

Gene nameankyrin repeat domain 17regulation of nuclear pre-mRNA domain containing 1B
SynonymsGTAR|MASK2|NY-BR-16C20orf77|CREPT|K-H|Kub5-Hera|NET60|dJ1057B20.2
Cytomap

4q13.3

20q11.23

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat domain-containing protein 17gene trap ankyrin repeat proteinserologically defined breast cancer antigen NY-BR-16regulation of nuclear pre-mRNA domain-containing protein 1BKu70-binding protein 5-Heracell-cycle related and expression-elevated protein in tumor
Modification date2018052320180519
UniProtAcc

O75179

Q9NQG5

Ensembl transtripts involved in fusion geneENST00000358602, ENST00000509867, 
ENST00000330838, ENST00000514252, 
ENST00000373433, ENST00000471511, 
Fusion gene scores* DoF score8 X 13 X 4=4165 X 3 X 4=60
# samples 175
** MAII scorelog2(17/416*10)=-1.29104878200339
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKRD17 [Title/Abstract] AND RPRD1B [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
HgeneANKRD17

GO:0042742

defense response to bacterium

23711367

HgeneANKRD17

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

22328336

HgeneANKRD17

GO:0045087

innate immune response

23711367

HgeneANKRD17

GO:1900245

positive regulation of MDA-5 signaling pathway

22328336

HgeneANKRD17

GO:1900246

positive regulation of RIG-I signaling pathway

22328336

TgeneRPRD1B

GO:0008284

positive regulation of cell proliferation

22264791

TgeneRPRD1B

GO:0010564

regulation of cell cycle process

22264791

TgeneRPRD1B

GO:0045944

positive regulation of transcription by RNA polymerase II

22264791


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
TCGARVBRCATCGA-C8-A1HN-01AANKRD17chr4

73979509

-RPRD1Bchr20

36694483

+
* 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-shiftENST00000358602ENST00000373433ANKRD17chr4

73979509

-RPRD1Bchr20

36694483

+
5CDS-intronENST00000358602ENST00000471511ANKRD17chr4

73979509

-RPRD1Bchr20

36694483

+
Frame-shiftENST00000509867ENST00000373433ANKRD17chr4

73979509

-RPRD1Bchr20

36694483

+
5CDS-intronENST00000509867ENST00000471511ANKRD17chr4

73979509

-RPRD1Bchr20

36694483

+
Frame-shiftENST00000330838ENST00000373433ANKRD17chr4

73979509

-RPRD1Bchr20

36694483

+
5CDS-intronENST00000330838ENST00000471511ANKRD17chr4

73979509

-RPRD1Bchr20

36694483

+
5UTR-3CDSENST00000514252ENST00000373433ANKRD17chr4

73979509

-RPRD1Bchr20

36694483

+
5UTR-intronENST00000514252ENST00000471511ANKRD17chr4

73979509

-RPRD1Bchr20

36694483

+

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FusionProtFeatures for ANKRD17_RPRD1B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANKRD17

O75179

RPRD1B

Q9NQG5

Interacts with phosphorylated C-terminal heptapeptiderepeat domain (CTD) of the largest RNA polymerase II subunitPOLR2A, and participates in dephosphorylation of the CTD by RPAP2.Transcriptional regulator which enhances expression of CCND1.Promotes binding of RNA polymerase II to the CCDN1 promoter and tothe termination region before the poly-A site but decreases itsbinding after the poly-A site. Prevents RNA polymerase II fromreading through the 3' end termination site and may allow it to berecruited back to the promoter through promotion of the formationof a chromatin loop. Also enhances the transcription of a numberof other cell cycle-related genes including CDK2, CDK4, CDK6 andcyclin-E but not CDKN1A, CDKN1B or cyclin-A. Promotes cellproliferation. {ECO:0000269|PubMed:22231121,ECO:0000269|PubMed:22264791, ECO:0000269|PubMed:24399136,ECO:0000269|PubMed:24997600}.

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 ANKRD17_RPRD1B


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 ANKRD17_RPRD1B


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
ANKRD17BAP1, APC, ITSN2, SIRT7, KIAA0368, ITGA4, ADH6, MDM2, AURKB, CDKN1A, HOXC4, MAGEA1, ZC3H3, FOSL2, SFRP4, LHX9, RBM23, MSH6, NTRK1, FGFR1OP, CAPN1, RPL10, CREB1, FOS, AKAP17A, FGF3, FGF8, STX11, TRIM41, TCEANC2, TGIF2LY, ZNF263, IRF9, CDX1, SIX2, ZNF414, TRMT2A, HOXD4RPRD1BTUBGCP4, TERF2, BRCA1, AARSD1, ARPC4, BAG1, FUBP1, GRPEL1, LPP, NIF3L1, NPLOC4, OGT, OSGEP, PFDN5, PPP1R12A, RANGAP1, RPA1, ACTR2, ACTR3, ALAD, CALU, DPP9, DUS3L, EFTUD1, PPME1, PPP1R7, SURF2, TES, TOM1L1, ZPR1, SAE1, STAT5B, TP53RK, TTLL12, RPA3, RPA2, WWOX, HUWE1, ABCE1, SLC25A41, POLR2E, POLR2G, CTDP1, RPAP2, POLR2A, POLR2M, RPRD1A, POLR2D, RPRD2, RECQL5, POLR2B, POLR2J, SUPT6H, POLR2I, POLR2C, GPN3, POLR2L, POLR2F, ACTL6A, ATP6V1B2, KPNB1, SRM, EWSR1, NEFM, RB1, SUPT5H, RNF168, CEP170P1, LMO2, STRAP, USP47, SNRNP27, ASB6, KLHL20, FGB, GPN1, TRIM25, URI1


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 ANKRD17_RPRD1B


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 ANKRD17_RPRD1B


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