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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: 14785

FusionGeneSummary for GMDS-AS1_PROM1

check button Fusion gene summary
Fusion gene informationFusion gene name: GMDS-AS1_PROM1
Fusion gene ID: 14785
HgeneTgene
Gene symbol

GMDS-AS1

PROM1

Gene ID

8842

Gene nameprominin 1
SynonymsAC133|CD133|CORD12|MCDR2|MSTP061|PROML1|RP41|STGD4
Cytomap

4p15.32

Type of geneprotein-coding
Descriptionprominin-1antigen AC133hPromininhematopoietic stem cell antigenprominin-like protein 1
Modification date20180523
UniProtAcc

O43490

Ensembl transtripts involved in fusion geneENST00000505870, ENST00000540805, 
ENST00000539194, ENST00000447510, 
ENST00000505450, ENST00000508167, 
ENST00000510224, ENST00000543373, 
ENST00000502943, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 1=4
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/4*10)=2.32192809488736
Context

PubMed: GMDS-AS1 [Title/Abstract] AND PROM1 [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
ChiTaRS3.1BG004548GMDS-AS1chr6

2254126

+PROM1chr4

15970152

+
* 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
intron-3UTRENST00000505870ENST00000540805GMDS-AS1chr6

2254126

+PROM1chr4

15970152

+
intron-3UTRENST00000505870ENST00000539194GMDS-AS1chr6

2254126

+PROM1chr4

15970152

+
intron-3UTRENST00000505870ENST00000447510GMDS-AS1chr6

2254126

+PROM1chr4

15970152

+
intron-3UTRENST00000505870ENST00000505450GMDS-AS1chr6

2254126

+PROM1chr4

15970152

+
intron-3UTRENST00000505870ENST00000508167GMDS-AS1chr6

2254126

+PROM1chr4

15970152

+
intron-3UTRENST00000505870ENST00000510224GMDS-AS1chr6

2254126

+PROM1chr4

15970152

+
intron-intronENST00000505870ENST00000543373GMDS-AS1chr6

2254126

+PROM1chr4

15970152

+
intron-intronENST00000505870ENST00000502943GMDS-AS1chr6

2254126

+PROM1chr4

15970152

+

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FusionProtFeatures for GMDS-AS1_PROM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GMDS-AS1

PROM1

O43490

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}. May play a role in cell differentiation, proliferationand apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in theorganization of the apical plasma membrane in epithelial cells.During early retinal development acts as a key regulator of diskmorphogenesis. Involved in regulation of MAPK and Akt signalingpathways. In neuroblastoma cells suppresses cell differentiationsuch as neurite outgrowth in a RET-dependent manner(PubMed:20818439). {ECO:0000269|PubMed:20818439,ECO:0000269|PubMed:24556617}.

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 GMDS-AS1_PROM1


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 GMDS-AS1_PROM1


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 GMDS-AS1_PROM1


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 GMDS-AS1_PROM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePROM1C0017636Glioblastoma3CTD_human
TgenePROM1C0009375Colonic Neoplasms1CTD_human
TgenePROM1C0009404Colorectal Neoplasms1CTD_human
TgenePROM1C0041696Unipolar Depression1PSYGENET
TgenePROM1C0042138Uterine Neoplasms1CTD_human
TgenePROM1C0206627Mixed Tumor, Mullerian1CTD_human
TgenePROM1C1269683Major Depressive Disorder1PSYGENET
TgenePROM1C2675210CONE-ROD DYSTROPHY 12 (disorder)1CTD_human;UNIPROT