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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 13246

FusionGeneSummary for FCHO2_CSH1

check button Fusion gene summary
Fusion gene informationFusion gene name: FCHO2_CSH1
Fusion gene ID: 13246
HgeneTgene
Gene symbol

FCHO2

CSH1

Gene ID

115548

1442

Gene nameFCH domain only 2chorionic somatomammotropin hormone 1
Synonyms-CS-1|CSA|CSMT|GHB3|PL|hCS-1|hCS-A
Cytomap

5q13.2

17q23.3

Type of geneprotein-codingprotein-coding
DescriptionF-BAR domain only protein 2FCH domain only protein 2chorionic somatomammotropin hormone 1choriomammotropinchorionic somatomammotropin Achorionic somatomammotropin-1growth hormone B3placental lactogen
Modification date2018052320180523
UniProtAcc

Q0JRZ9

Ensembl transtripts involved in fusion geneENST00000341845, ENST00000430046, 
ENST00000512348, ENST00000287761, 
ENST00000453363, ENST00000316193, 
ENST00000329882, 
Fusion gene scores* DoF score4 X 4 X 3=487 X 7 X 1=49
# samples 47
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AK056770FCHO2chr5

72377774

+CSH1chr17

61973114

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000341845ENST00000453363FCHO2chr5

72377774

+CSH1chr17

61973114

-
5CDS-intronENST00000341845ENST00000316193FCHO2chr5

72377774

+CSH1chr17

61973114

-
5CDS-intronENST00000341845ENST00000329882FCHO2chr5

72377774

+CSH1chr17

61973114

-
5CDS-intronENST00000430046ENST00000453363FCHO2chr5

72377774

+CSH1chr17

61973114

-
5CDS-intronENST00000430046ENST00000316193FCHO2chr5

72377774

+CSH1chr17

61973114

-
5CDS-intronENST00000430046ENST00000329882FCHO2chr5

72377774

+CSH1chr17

61973114

-
5CDS-intronENST00000512348ENST00000453363FCHO2chr5

72377774

+CSH1chr17

61973114

-
5CDS-intronENST00000512348ENST00000316193FCHO2chr5

72377774

+CSH1chr17

61973114

-
5CDS-intronENST00000512348ENST00000329882FCHO2chr5

72377774

+CSH1chr17

61973114

-
intron-intronENST00000287761ENST00000453363FCHO2chr5

72377774

+CSH1chr17

61973114

-
intron-intronENST00000287761ENST00000316193FCHO2chr5

72377774

+CSH1chr17

61973114

-
intron-intronENST00000287761ENST00000329882FCHO2chr5

72377774

+CSH1chr17

61973114

-

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FusionProtFeatures for FCHO2_CSH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FCHO2

Q0JRZ9

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for FCHO2_CSH1


check button 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 FCHO2_CSH1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for FCHO2_CSH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FCHO2_CSH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCSH1C0175693Russell-Silver syndrome1CTD_human