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Fusion gene ID: 5777 |
FusionGeneSummary for CCDC120_PPP1R13L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CCDC120_PPP1R13L | Fusion gene ID: 5777 | Hgene | Tgene | Gene symbol | CCDC120 | PPP1R13L | Gene ID | 90060 | 10848 |
| Gene name | coiled-coil domain containing 120 | protein phosphatase 1 regulatory subunit 13 like | |
| Synonyms | JM11 | IASPP|NKIP1|RAI|RAI4 | |
| Cytomap | Xp11.23 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | coiled-coil domain-containing protein 120 | relA-associated inhibitorNFkB interacting protein 1PPP1R13B-like proteininhibitor of ASPP proteininhibitor of apoptosis stimulating protein of p53protein iASPPprotein phosphatase 1, regulatory (inhibitor) subunit 13 likeretinoic acid induced 4 | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q96HB5 | Q8WUF5 | |
| Ensembl transtripts involved in fusion gene | ENST00000597275, ENST00000496529, ENST00000376396, ENST00000422185, ENST00000603986, ENST00000536628, | ENST00000360957, ENST00000418234, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 5 X 5 X 3=75 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CCDC120 [Title/Abstract] AND PPP1R13L [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BF915897 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000597275 | ENST00000360957 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000597275 | ENST00000418234 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000496529 | ENST00000360957 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000496529 | ENST00000418234 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000376396 | ENST00000360957 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000376396 | ENST00000418234 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000422185 | ENST00000360957 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000422185 | ENST00000418234 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000603986 | ENST00000360957 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000603986 | ENST00000418234 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000536628 | ENST00000360957 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
| intron-3CDS | ENST00000536628 | ENST00000418234 | CCDC120 | chrX | 48922399 | - | PPP1R13L | chr19 | 45885921 | - |
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FusionProtFeatures for CCDC120_PPP1R13L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CCDC120 | PPP1R13L |
| Centriolar protein required for centriole subdistalappendage assembly and microtubule anchoring in interphase cells(PubMed:28422092). Together with CCDC68, cooperate with subdistalappendage components ODF2, NIN and CEP170 for hierarchicalsubdistal appendage assembly (PubMed:28422092). Recruits NIN andCEP170 to centrosomes (PubMed:28422092). Also required for neuritegrowth. Localizes CYTH2 to vesicles to allow its transport alongneurites, and subsequent ARF6 activation and neurite growth.{ECO:0000269|PubMed:25326380}. | Regulator that plays a central role in regulation ofapoptosis and transcription via its interaction with NF-kappa-Band p53/TP53 proteins. Blocks transcription of HIV-1 virus byinhibiting the action of both NF-kappa-B and SP1. Also inhibitsp53/TP53 function, possibly by preventing the association betweenp53/TP53 and ASPP1 or ASPP2, and therefore suppressing thesubsequent activation of apoptosis. {ECO:0000269|PubMed:10336463,ECO:0000269|PubMed:12134007, ECO:0000269|PubMed:12524540,ECO:0000269|PubMed:15489900}. |
| Retention 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 . * 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 CCDC120_PPP1R13L |
| 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 CCDC120_PPP1R13L |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CCDC120_PPP1R13L |
| Drugs targeting genes involved in this fusion gene. (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 CCDC120_PPP1R13L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PPP1R13L | C0023418 | leukemia | 1 | CTD_human |
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