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Fusion gene ID: 13246 |
FusionGeneSummary for FCHO2_CSH1 |
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Fusion gene information | Fusion gene name: FCHO2_CSH1 | Fusion gene ID: 13246 | Hgene | Tgene | Gene symbol | FCHO2 | CSH1 | Gene ID | 115548 | 1442 |
Gene name | FCH domain only 2 | chorionic somatomammotropin hormone 1 | |
Synonyms | - | CS-1|CSA|CSMT|GHB3|PL|hCS-1|hCS-A | |
Cytomap | 5q13.2 | 17q23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | F-BAR domain only protein 2FCH domain only protein 2 | chorionic somatomammotropin hormone 1choriomammotropinchorionic somatomammotropin Achorionic somatomammotropin-1growth hormone B3placental lactogen | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q0JRZ9 | ||
Ensembl transtripts involved in fusion gene | ENST00000341845, ENST00000430046, ENST00000512348, ENST00000287761, | ENST00000453363, ENST00000316193, ENST00000329882, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 7 X 7 X 1=49 |
# samples | 4 | 7 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/49*10)=0.514573172829758 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: FCHO2 [Title/Abstract] AND CSH1 [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 |
![]() (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 | AK056770 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
* 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-intron | ENST00000341845 | ENST00000453363 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
5CDS-intron | ENST00000341845 | ENST00000316193 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
5CDS-intron | ENST00000341845 | ENST00000329882 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
5CDS-intron | ENST00000430046 | ENST00000453363 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
5CDS-intron | ENST00000430046 | ENST00000316193 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
5CDS-intron | ENST00000430046 | ENST00000329882 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
5CDS-intron | ENST00000512348 | ENST00000453363 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
5CDS-intron | ENST00000512348 | ENST00000316193 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
5CDS-intron | ENST00000512348 | ENST00000329882 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
intron-intron | ENST00000287761 | ENST00000453363 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
intron-intron | ENST00000287761 | ENST00000316193 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
intron-intron | ENST00000287761 | ENST00000329882 | FCHO2 | chr5 | 72377774 | + | CSH1 | chr17 | 61973114 | - |
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FusionProtFeatures for FCHO2_CSH1 |
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Hgene | Tgene |
FCHO2 | CSH1 |
Functions in an early step of clathrin-mediatedendocytosis. Has both a membrane binding/bending activity and theability to recruit proteins essential to the formation offunctional clathrin-coated pits. Has a lipid-binding activity witha preference for membranes enriched in phosphatidylserine andphosphoinositides (Pi(4,5) biphosphate) like the plasma membrane.Its membrane-bending activity might be important for thesubsequent action of clathrin and adaptors in the formation ofclathrin-coated vesicles. Involved in adaptor protein complex AP-2-dependent endocytosis of the transferrin receptor, it alsofunctions in the AP-2-independent endocytosis of the LDL receptor.{ECO:0000269|PubMed:17540576, ECO:0000269|PubMed:20448150,ECO:0000269|PubMed:21762413, ECO:0000269|PubMed:22323290}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
![]() * 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 FCHO2_CSH1 |
![]() (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 FCHO2_CSH1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 FCHO2_CSH1 |
![]() (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 FCHO2_CSH1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CSH1 | C0175693 | Russell-Silver syndrome | 1 | CTD_human |