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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: 31319

FusionGeneSummary for RMI2_AGPS

check button Fusion gene summary
Fusion gene informationFusion gene name: RMI2_AGPS
Fusion gene ID: 31319
HgeneTgene
Gene symbol

RMI2

AGPS

Gene ID

116028

8540

Gene nameRecQ mediated genome instability 2alkylglycerone phosphate synthase
SynonymsBLAP18|C16orf75ADAP-S|ADAS|ADHAPS|ADPS|ALDHPSY|RCDP3
Cytomap

16p13.13

2q31.2

Type of geneprotein-codingprotein-coding
DescriptionrecQ-mediated genome instability protein 2BLM-associated protein of 18 kDaRMI2, RecQ mediated genome instability 2, homologalkyldihydroxyacetonephosphate synthase, peroxisomalaging-associated gene 5 proteinaging-associated protein 5alkyl-DHAP synthase
Modification date2018052320180522
UniProtAcc

Q96E14

O00116

Ensembl transtripts involved in fusion geneENST00000572173, ENST00000572992, 
ENST00000381820, ENST00000312499, 
ENST00000576027, 
ENST00000264167, 
ENST00000409888, 
Fusion gene scores* DoF score8 X 8 X 2=1286 X 5 X 5=150
# samples 86
** MAII scorelog2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RMI2 [Title/Abstract] AND AGPS [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
TgeneAGPS

GO:0008610

lipid biosynthetic process

9553082


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
ChiTaRS3.1DB074890RMI2chr16

11374744

-AGPSchr2

178257504

+
* 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-5UTRENST00000572173ENST00000264167RMI2chr16

11374744

-AGPSchr2

178257504

+
intron-5UTRENST00000572173ENST00000409888RMI2chr16

11374744

-AGPSchr2

178257504

+
intron-5UTRENST00000572992ENST00000264167RMI2chr16

11374744

-AGPSchr2

178257504

+
intron-5UTRENST00000572992ENST00000409888RMI2chr16

11374744

-AGPSchr2

178257504

+
intron-5UTRENST00000381820ENST00000264167RMI2chr16

11374744

-AGPSchr2

178257504

+
intron-5UTRENST00000381820ENST00000409888RMI2chr16

11374744

-AGPSchr2

178257504

+
intron-5UTRENST00000312499ENST00000264167RMI2chr16

11374744

-AGPSchr2

178257504

+
intron-5UTRENST00000312499ENST00000409888RMI2chr16

11374744

-AGPSchr2

178257504

+
intron-5UTRENST00000576027ENST00000264167RMI2chr16

11374744

-AGPSchr2

178257504

+
intron-5UTRENST00000576027ENST00000409888RMI2chr16

11374744

-AGPSchr2

178257504

+

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FusionProtFeatures for RMI2_AGPS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RMI2

Q96E14

AGPS

O00116

Essential component of the RMI complex, a complex thatplays an important role in the processing of homologousrecombination intermediates. It is required to regulate sisterchromatid segregation and to limit DNA crossover. Essential forthe stability, localization, and function of BLM, TOP3A, andcomplexes containing BLM. In the RMI complex, it is required totarget BLM to chromatin and stress-induced nuclear foci andmitotic phosphorylation of BLM. {ECO:0000269|PubMed:18923082,ECO:0000269|PubMed:18923083, ECO:0000269|PubMed:27977684}. Catalyzes the exchange of an acyl for a long-chain alkylgroup and the formation of the ether bond in the biosynthesis ofether phospholipids. {ECO:0000250}.

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 RMI2_AGPS


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 RMI2_AGPS


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 RMI2_AGPS


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 RMI2_AGPS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAGPSC1838612Rhizomelic chondrodysplasia punctata, type 33CTD_human;ORPHANET;UNIPROT