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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: 30634

FusionGeneSummary for RBBP8_ANXA4

check button Fusion gene summary
Fusion gene informationFusion gene name: RBBP8_ANXA4
Fusion gene ID: 30634
HgeneTgene
Gene symbol

RBBP8

ANXA4

Gene ID

5932

307

Gene nameRB binding protein 8, endonucleaseannexin A4
SynonymsCOM1|CTIP|JWDS|RIM|SAE2|SCKL2ANX4|HEL-S-274|P32.5|PAP-II|PIG28|PP4-X|ZAP36
Cytomap

18q11.2

2p13.3

Type of geneprotein-codingprotein-coding
DescriptionDNA endonuclease RBBP8CTBP-interacting proteinRBBP-8retinoblastoma binding protein 8sporulation in the absence of SPO11 protein 2 homologannexin A435-beta calcimedinannexin IV (placental anticoagulant protein II)annexin-4carbohydrate-binding protein p33/p41chromobindin-4endonexin Iepididymis secretory protein Li 274lipocortin IVplacental anticoagulant protein IIproliferation-indu
Modification date2018052320180519
UniProtAcc

Q99708

P09525

Ensembl transtripts involved in fusion geneENST00000327155, ENST00000399722, 
ENST00000399725, ENST00000360790, 
ENST00000581687, 
ENST00000418066, 
ENST00000409920, ENST00000394295, 
ENST00000536030, 
Fusion gene scores* DoF score6 X 6 X 5=1808 X 3 X 7=168
# samples 610
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/168*10)=-0.748461233004036
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBBP8 [Title/Abstract] AND ANXA4 [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
HgeneRBBP8

GO:0000724

double-strand break repair via homologous recombination

20829486

TgeneANXA4

GO:0006357

regulation of transcription by RNA polymerase II

20237821

TgeneANXA4

GO:0032088

negative regulation of NF-kappaB transcription factor activity

20237821


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
TCGARVLUSCTCGA-60-2715-01ARBBP8chr18

20529676

+ANXA4chr2

70008652

+
* 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
5CDS-3UTRENST00000327155ENST00000418066RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000327155ENST00000409920RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000327155ENST00000394295RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000327155ENST00000536030RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-3UTRENST00000399722ENST00000418066RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000399722ENST00000409920RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000399722ENST00000394295RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000399722ENST00000536030RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-3UTRENST00000399725ENST00000418066RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000399725ENST00000409920RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000399725ENST00000394295RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000399725ENST00000536030RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-3UTRENST00000360790ENST00000418066RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000360790ENST00000409920RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000360790ENST00000394295RBBP8chr18

20529676

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000360790ENST00000536030RBBP8chr18

20529676

+ANXA4chr2

70008652

+
intron-3UTRENST00000581687ENST00000418066RBBP8chr18

20529676

+ANXA4chr2

70008652

+
intron-5UTRENST00000581687ENST00000409920RBBP8chr18

20529676

+ANXA4chr2

70008652

+
intron-5UTRENST00000581687ENST00000394295RBBP8chr18

20529676

+ANXA4chr2

70008652

+
intron-5UTRENST00000581687ENST00000536030RBBP8chr18

20529676

+ANXA4chr2

70008652

+

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FusionProtFeatures for RBBP8_ANXA4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RBBP8

Q99708

ANXA4

P09525

Endonuclease that cooperates with the MRE11-RAD50-NBN(MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination(HR) pathway. HR is restricted to S and G2 phases of the cellcycle and preferentially repairs DSBs resulting from replicationfork collapse. Key determinant of DSB repair pathway choice, as itcommits cells to HR by preventing classical non-homologous end-joining (NHEJ). Functions downstream of the MRN complex and ATM,promotes ATR activation and its recruitment to DSBs in the S/G2phase facilitating the generation of ssDNA. Component of theBRCA1-RBBP8 complex that regulates CHEK1 activation and controlscell cycle G2/M checkpoints on DNA damage (PubMed:10764811,PubMed:10910365, PubMed:15485915, PubMed:16581787,PubMed:16818604, PubMed:17965729, PubMed:19202191,PubMed:19759395, PubMed:20064462, PubMed:20829486). Duringimmunoglobulin heavy chain class-switch recombination, promotesmicrohomology-mediated alternative end joining (A-NHEJ) and playsan essential role in chromosomal translocations (By similarity).{ECO:0000250|UniProtKB:Q80YR6, ECO:0000269|PubMed:10764811,ECO:0000269|PubMed:10910365, ECO:0000269|PubMed:15485915,ECO:0000269|PubMed:16581787, ECO:0000269|PubMed:16818604,ECO:0000269|PubMed:17965729, ECO:0000269|PubMed:19202191,ECO:0000269|PubMed:19759395, ECO:0000269|PubMed:20064462,ECO:0000269|PubMed:20829486}. Calcium/phospholipid-binding protein which promotesmembrane fusion and is involved in exocytosis. {ECO:0000250}.

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 RBBP8_ANXA4


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 RBBP8_ANXA4


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
RBBP8RBL1, LMO4, LIMS1, HID1, FXR2, PIN1, WDYHV1, ATM, BRCA1, CTBP1, RBBP8, RB1, PRKDC, SIAH1, SIAH2, IKZF1, RBL2, BARD1, RAD50, SPEN, PALB2, UIMC1, ZNF350, NBN, PCNA, CTBP2, EEF1A1, CLU, IGFBP7, RAF1, MAP2K4, IKBKG, RGS17, PRRG4, TMEM54, MDM2, LMO1, FZR1, MRE11A, FANCD2, PLK1, THOC2, KIF7, USP4, DNA2, EXD2, EXO1, BRIX1, DEFA1, XRCC1, SCOC, ERP44, UBC, KLHL15, CUL3, POLNANXA4NFKB1, H2AFX, UCHL5, SMPD1, NMT2, TINF2, POT1, DNAJB11, ANXA7, MPST, ANXA3, ANXA1, PADI4, EZH2, RAB8A, RHOU, CDH1, SF3A3


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 RBBP8_ANXA4


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 RBBP8_ANXA4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRBBP8C1847572SECKEL SYNDROME 21UNIPROT
TgeneANXA4C0007134Renal Cell Carcinoma1CTD_human
TgeneANXA4C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneANXA4C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneANXA4C0023903Liver neoplasms1CTD_human
TgeneANXA4C0024667Animal Mammary Neoplasms1CTD_human
TgeneANXA4C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneANXA4C0027627Neoplasm Metastasis1CTD_human
TgeneANXA4C0032927Precancerous Conditions1CTD_human
TgeneANXA4C0033578Prostatic Neoplasms1CTD_human
TgeneANXA4C2239176Liver carcinoma1CTD_human