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Fusion gene ID: 5832 |
FusionGeneSummary for CCDC22_PSPH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CCDC22_PSPH | Fusion gene ID: 5832 | Hgene | Tgene | Gene symbol | CCDC22 | PSPH | Gene ID | 28952 | 5723 |
| Gene name | coiled-coil domain containing 22 | phosphoserine phosphatase | |
| Synonyms | CXorf37|JM1|RTSC2 | PSP|PSPHD | |
| Cytomap | Xp11.23 | 7p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | coiled-coil domain-containing protein 22 | phosphoserine phosphataseL-3-phosphoserine phosphataseO-phosphoserine phosphohydrolasePSPase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O60826 | P78330 | |
| Ensembl transtripts involved in fusion gene | ENST00000376227, ENST00000496651, | ENST00000275605, ENST00000395471, ENST00000459834, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 12 X 13 X 4=624 |
| # samples | 2 | 14 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(14/624*10)=-2.15611920191728 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CCDC22 [Title/Abstract] AND PSPH [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 |
| Tgene | PSPH | GO:0006563 | L-serine metabolic process | 15291819 |
| 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 | CA442113 | CCDC22 | chrX | 49107333 | + | PSPH | chr7 | 56131594 | + |
| * 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-intron | ENST00000376227 | ENST00000275605 | CCDC22 | chrX | 49107333 | + | PSPH | chr7 | 56131594 | + |
| intron-intron | ENST00000376227 | ENST00000395471 | CCDC22 | chrX | 49107333 | + | PSPH | chr7 | 56131594 | + |
| intron-intron | ENST00000376227 | ENST00000459834 | CCDC22 | chrX | 49107333 | + | PSPH | chr7 | 56131594 | + |
| intron-intron | ENST00000496651 | ENST00000275605 | CCDC22 | chrX | 49107333 | + | PSPH | chr7 | 56131594 | + |
| intron-intron | ENST00000496651 | ENST00000395471 | CCDC22 | chrX | 49107333 | + | PSPH | chr7 | 56131594 | + |
| intron-intron | ENST00000496651 | ENST00000459834 | CCDC22 | chrX | 49107333 | + | PSPH | chr7 | 56131594 | + |
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FusionProtFeatures for CCDC22_PSPH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CCDC22 | PSPH |
| Involved in regulation of NF-kappa-B signaling. Promotesubiquitination of I-kappa-B-kinase subunit IKBKB and itssubsequent proteasomal degradation leading to NF-kappa-Bactivation; the function may involve association with COMMD8 and aCUL1-dependent E3 ubiquitin ligase complex. May down-regulate NF-kappa-B activity via association with COMMD1 and involving a CUL2-dependent E3 ubiquitin ligase complex. Regulates the cellularlocalization of COMM domain-containing proteins, such as COMMD1and COMMD10 (PubMed:23563313). Plays a role in copper ionhomeostasis. Involved in copper-dependent ATP7A traffickingbetween the trans-Golgi network and vesicles in the cellperiphery; the function is proposed to depend on its associationwithin the CCC complex and cooperation with the WASH complex onearly endosomes (PubMed:25355947). {ECO:0000269|PubMed:23563313,ECO:0000269|PubMed:25355947}. | Catalyzes the last step in the biosynthesis of serinefrom carbohydrates. The reaction mechanism proceeds via theformation of a phosphoryl-enzyme intermediates.{ECO:0000269|PubMed:12777757}. |
| 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 CCDC22_PSPH |
| 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 CCDC22_PSPH |
| 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 CCDC22_PSPH |
| 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 |
| Tgene | PSPH | P78330 | DB01593 | Zinc | Phosphoserine phosphatase | small molecule | approved|investigational |
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RelatedDiseases for CCDC22_PSPH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CCDC22 | C4225419 | RITSCHER-SCHINZEL SYNDROME 2 | 2 | UNIPROT |
| Tgene | PSPH | C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
| Tgene | PSPH | C1291463 | Deficiency of phosphoserine phosphatase | 1 | ORPHANET;UNIPROT |
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