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: 30635

FusionGeneSummary for RBBP8_FAM126A

check button Fusion gene summary
Fusion gene informationFusion gene name: RBBP8_FAM126A
Fusion gene ID: 30635
HgeneTgene
Gene symbol

RBBP8

FAM126A

Gene ID

5932

84668

Gene nameRB binding protein 8, endonucleasefamily with sequence similarity 126 member A
SynonymsCOM1|CTIP|JWDS|RIM|SAE2|SCKL2DRCTNNB1A|HCC|HLD5|HYCC1
Cytomap

18q11.2

7p15.3

Type of geneprotein-codingprotein-coding
DescriptionDNA endonuclease RBBP8CTBP-interacting proteinRBBP-8retinoblastoma binding protein 8sporulation in the absence of SPO11 protein 2 homologhyccindown regulated by Ctnnb1, adown-regulated by CTNNB1 protein A
Modification date2018052320180519
UniProtAcc

Q99708

Q9BYI3

Ensembl transtripts involved in fusion geneENST00000327155, ENST00000399722, 
ENST00000399725, ENST00000360790, 
ENST00000581687, 
ENST00000432176, 
ENST00000409923, ENST00000498833, 
ENST00000409763, 
Fusion gene scores* DoF score6 X 6 X 5=1803 X 3 X 2=18
# samples 64
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RBBP8 [Title/Abstract] AND FAM126A [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

TgeneFAM126A

GO:0046854

phosphatidylinositol phosphorylation

26571211

TgeneFAM126A

GO:0072659

protein localization to plasma membrane

26571211


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
TCGARVLGGTCGA-HT-7477-01BRBBP8chr18

20564953

+FAM126Achr7

23030758

-
* 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-5UTRENST00000327155ENST00000432176RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000327155ENST00000409923RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-intronENST00000327155ENST00000498833RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000327155ENST00000409763RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000399722ENST00000432176RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000399722ENST00000409923RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-intronENST00000399722ENST00000498833RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000399722ENST00000409763RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000399725ENST00000432176RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000399725ENST00000409923RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-intronENST00000399725ENST00000498833RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000399725ENST00000409763RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000360790ENST00000432176RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000360790ENST00000409923RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-intronENST00000360790ENST00000498833RBBP8chr18

20564953

+FAM126Achr7

23030758

-
5CDS-5UTRENST00000360790ENST00000409763RBBP8chr18

20564953

+FAM126Achr7

23030758

-
intron-5UTRENST00000581687ENST00000432176RBBP8chr18

20564953

+FAM126Achr7

23030758

-
intron-5UTRENST00000581687ENST00000409923RBBP8chr18

20564953

+FAM126Achr7

23030758

-
intron-intronENST00000581687ENST00000498833RBBP8chr18

20564953

+FAM126Achr7

23030758

-
intron-5UTRENST00000581687ENST00000409763RBBP8chr18

20564953

+FAM126Achr7

23030758

-

Top

FusionProtFeatures for RBBP8_FAM126A


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

Q99708

FAM126A

Q9BYI3

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}.

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 RBBP8_FAM126A


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 RBBP8_FAM126A


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, POLNFAM126ALPAR6, P2RY8, GAN, CDH1, RGS20, GC, RPGR, P2RX5, SHPK, NR2F2


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 RBBP8_FAM126A


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 RBBP8_FAM126A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRBBP8C1847572SECKEL SYNDROME 21UNIPROT
TgeneFAM126AC1864663HYPOMYELINATION AND CONGENITAL CATARACT2CTD_human;ORPHANET;UNIPROT
TgeneFAM126AC0236969Substance-Related Disorders1CTD_human
TgeneFAM126AC3714756Intellectual Disability1CTD_human