|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 5731 |
FusionGeneSummary for CC2D1A_C19orf57 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CC2D1A_C19orf57 | Fusion gene ID: 5731 | Hgene | Tgene | Gene symbol | CC2D1A | C19orf57 | Gene ID | 54862 | 79173 |
| Gene name | coiled-coil and C2 domain containing 1A | chromosome 19 open reading frame 57 | |
| Synonyms | FREUD-1|Freud-1/Aki1|MRT3 | - | |
| Cytomap | 19p13.12 | 19p13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | coiled-coil and C2 domain-containing protein 1AAkt kinase-interacting protein 1FRE under dual repression-binding protein 1five prime repressor element under dual repression-binding protein 1five repressor element under dual repression-binding protein | uncharacterized protein C19orf57pre-T/NK cell associated protein (3B3) | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q6P1N0 | Q0VDD7 | |
| Ensembl transtripts involved in fusion gene | ENST00000318003, ENST00000589606, | ENST00000586783, ENST00000454313, ENST00000346736, ENST00000591586, | |
| Fusion gene scores | * DoF score | 10 X 10 X 7=700 | 7 X 6 X 4=168 |
| # samples | 10 | 7 | |
| ** MAII score | log2(10/700*10)=-2.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CC2D1A [Title/Abstract] AND C19orf57 [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 |
| TCGA | RV | UCEC | TCGA-B5-A1MS-01B | CC2D1A | chr19 | 14017314 | + | C19orf57 | chr19 | 13996868 | - |
| * 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 |
| In-frame | ENST00000318003 | ENST00000586783 | CC2D1A | chr19 | 14017314 | + | C19orf57 | chr19 | 13996868 | - |
| In-frame | ENST00000318003 | ENST00000454313 | CC2D1A | chr19 | 14017314 | + | C19orf57 | chr19 | 13996868 | - |
| In-frame | ENST00000318003 | ENST00000346736 | CC2D1A | chr19 | 14017314 | + | C19orf57 | chr19 | 13996868 | - |
| In-frame | ENST00000318003 | ENST00000591586 | CC2D1A | chr19 | 14017314 | + | C19orf57 | chr19 | 13996868 | - |
| In-frame | ENST00000589606 | ENST00000586783 | CC2D1A | chr19 | 14017314 | + | C19orf57 | chr19 | 13996868 | - |
| In-frame | ENST00000589606 | ENST00000454313 | CC2D1A | chr19 | 14017314 | + | C19orf57 | chr19 | 13996868 | - |
| In-frame | ENST00000589606 | ENST00000346736 | CC2D1A | chr19 | 14017314 | + | C19orf57 | chr19 | 13996868 | - |
| In-frame | ENST00000589606 | ENST00000591586 | CC2D1A | chr19 | 14017314 | + | C19orf57 | chr19 | 13996868 | - |
Top |
FusionProtFeatures for CC2D1A_C19orf57 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CC2D1A | C19orf57 |
| Transcription factor that binds specifically to the DRE(dual repressor element) and represses HTR1A gene transcription inneuronal cells. The combination of calcium and ATP specificallyinactivates the binding with FRE. May play a role in the alteredregulation of HTR1A associated with anxiety and major depression.Mediates HDAC-independent repression of HTR1A promoter in neuronalcell. Performs essential function in controlling functionalmaturation of synapses (By similarity). Plays distinct rolesdepending on its localization. When cytoplasmic, acts as ascaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1Awhen nuclear. In the centrosome, regulates spindle polelocalization of the cohesin subunit SCC1/RAD21, thereby mediatingcentriole cohesion during mitosis. {ECO:0000250,ECO:0000269|PubMed:20171170}. |
| 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 |
| Hgene | >CC2D1A | chr19:14017314 | chr19:13996868 | ENST00000318003 | + | 1 | 29 | 346_392 | 20 | 952 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >CC2D1A | chr19:14017314 | chr19:13996868 | ENST00000318003 | + | 1 | 29 | 484_517 | 20 | 952 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >CC2D1A | chr19:14017314 | chr19:13996868 | ENST00000589606 | + | 1 | 29 | 346_392 | 20 | 951 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >CC2D1A | chr19:14017314 | chr19:13996868 | ENST00000589606 | + | 1 | 29 | 484_517 | 20 | 951 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >CC2D1A | chr19:14017314 | chr19:13996868 | ENST00000318003 | + | 1 | 29 | 192_345 | 20 | 952 | Compositional bias | Note=Pro-rich |
| Hgene | >CC2D1A | chr19:14017314 | chr19:13996868 | ENST00000589606 | + | 1 | 29 | 192_345 | 20 | 951 | Compositional bias | Note=Pro-rich |
| Hgene | >CC2D1A | chr19:14017314 | chr19:13996868 | ENST00000318003 | + | 1 | 29 | 642_755 | 20 | 952 | Domain | Note=C2 |
| Hgene | >CC2D1A | chr19:14017314 | chr19:13996868 | ENST00000589606 | + | 1 | 29 | 642_755 | 20 | 951 | Domain | Note=C2 |
Top |
FusionGeneSequence for CC2D1A_C19orf57 |
| 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 CC2D1A_C19orf57 |
| 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 |
| CC2D1A | NCOA2, CDC37, LRP1, CHMP4A, CHMP4C, TSPAN3, CRYAB, LRWD1, OFD1, PCM1, MKS1, CEP170, CEP104, CEP162, CEP152, FGFR1OP, SPICE1, CEP128, CEP135, CEP44, CEP89, CNTRL, FBF1, NINL, NIN, DCTN1, CEP19, STIL, XPO1, CHMP4B, CDH1, SLC1A1, MRAP2 | C19orf57 | C19orf25, RABL6, GPS2, TRIM23, VCL, RUNX1T1, EWSR1, COPS4, C19orf57, AIMP2, IKBKG, APP, CENPQ, FBXO25, TSC22D3, PSMA6, KRT38, CTNNAL1, HOMER1, HAUS3, KRT40, FAM9B, KRTAP10-7, KRTAP10-9, KRTAP10-3, NCOA1, PRCC, PPP2R5E |
| - 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 |
Top |
RelatedDrugs for CC2D1A_C19orf57 |
| 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 |
Top |
RelatedDiseases for CC2D1A_C19orf57 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CC2D1A | C0041696 | Unipolar Depression | 2 | PSYGENET |
| Hgene | CC2D1A | C1269683 | Major Depressive Disorder | 2 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|