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Fusion gene ID: 30635 |
FusionGeneSummary for RBBP8_FAM126A |
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Fusion gene information | Fusion gene name: RBBP8_FAM126A | Fusion gene ID: 30635 | Hgene | Tgene | Gene symbol | RBBP8 | FAM126A | Gene ID | 5932 | 84668 |
Gene name | RB binding protein 8, endonuclease | family with sequence similarity 126 member A | |
Synonyms | COM1|CTIP|JWDS|RIM|SAE2|SCKL2 | DRCTNNB1A|HCC|HLD5|HYCC1 | |
Cytomap | 18q11.2 | 7p15.3 | |
Type of gene | protein-coding | protein-coding | |
Description | DNA endonuclease RBBP8CTBP-interacting proteinRBBP-8retinoblastoma binding protein 8sporulation in the absence of SPO11 protein 2 homolog | hyccindown regulated by Ctnnb1, adown-regulated by CTNNB1 protein A | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q99708 | Q9BYI3 | |
Ensembl transtripts involved in fusion gene | ENST00000327155, ENST00000399722, ENST00000399725, ENST00000360790, ENST00000581687, | ENST00000432176, ENST00000409923, ENST00000498833, ENST00000409763, | |
Fusion gene scores | * DoF score | 6 X 6 X 5=180 | 3 X 3 X 2=18 |
# samples | 6 | 4 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | RBBP8 | GO:0000724 | double-strand break repair via homologous recombination | 20829486 |
Tgene | FAM126A | GO:0046854 | phosphatidylinositol phosphorylation | 26571211 |
Tgene | FAM126A | GO:0072659 | protein localization to plasma membrane | 26571211 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LGG | TCGA-HT-7477-01B | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000327155 | ENST00000432176 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000327155 | ENST00000409923 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-intron | ENST00000327155 | ENST00000498833 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000327155 | ENST00000409763 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000399722 | ENST00000432176 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000399722 | ENST00000409923 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-intron | ENST00000399722 | ENST00000498833 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000399722 | ENST00000409763 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000399725 | ENST00000432176 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000399725 | ENST00000409923 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-intron | ENST00000399725 | ENST00000498833 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000399725 | ENST00000409763 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000360790 | ENST00000432176 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000360790 | ENST00000409923 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-intron | ENST00000360790 | ENST00000498833 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
5CDS-5UTR | ENST00000360790 | ENST00000409763 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
intron-5UTR | ENST00000581687 | ENST00000432176 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
intron-5UTR | ENST00000581687 | ENST00000409923 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
intron-intron | ENST00000581687 | ENST00000498833 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
intron-5UTR | ENST00000581687 | ENST00000409763 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
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FusionProtFeatures for RBBP8_FAM126A |
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Hgene | Tgene |
RBBP8 | FAM126A |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RBBP8_FAM126A |
![]() (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_FAM126A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RBBP8 | RBL1, 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, POLN | FAM126A | LPAR6, P2RY8, GAN, CDH1, RGS20, GC, RPGR, P2RX5, SHPK, NR2F2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RBBP8_FAM126A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RBBP8_FAM126A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RBBP8 | C1847572 | SECKEL SYNDROME 2 | 1 | UNIPROT |
Tgene | FAM126A | C1864663 | HYPOMYELINATION AND CONGENITAL CATARACT | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | FAM126A | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Tgene | FAM126A | C3714756 | Intellectual Disability | 1 | CTD_human |