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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: 31315

FusionGeneSummary for RMDN3_SMIM14

check button Fusion gene summary
Fusion gene informationFusion gene name: RMDN3_SMIM14
Fusion gene ID: 31315
HgeneTgene
Gene symbol

RMDN3

SMIM14

Gene ID

55177

201895

Gene nameregulator of microtubule dynamics 3small integral membrane protein 14
SynonymsFAM82A2|FAM82C|RMD-3|RMD3|ptpip51C4orf34
Cytomap

15q15.1

4p14

Type of geneprotein-codingprotein-coding
Descriptionregulator of microtubule dynamics protein 3TCPTP-interacting protein 51cerebral protein 10family with sequence similarity 82, member A2family with sequence similarity 82, member Cmicrotubule-associated proteinprotein tyrosine phosphatase-interactingsmall integral membrane protein 14
Modification date2018052220180519
UniProtAcc

Q96TC7

Q96QK8

Ensembl transtripts involved in fusion geneENST00000260385, ENST00000338376, 
ENST00000558560, 
ENST00000295958, 
ENST00000511809, ENST00000510628, 
Fusion gene scores* DoF score4 X 3 X 3=364 X 2 X 4=32
# samples 44
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RMDN3 [Title/Abstract] AND SMIM14 [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
TCGALDUCECTCGA-AX-A3GI-01ARMDN3chr15

41043624

-SMIM14chr4

39574083

-
* 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
Frame-shiftENST00000260385ENST00000295958RMDN3chr15

41043624

-SMIM14chr4

39574083

-
Frame-shiftENST00000260385ENST00000511809RMDN3chr15

41043624

-SMIM14chr4

39574083

-
5CDS-5UTRENST00000260385ENST00000510628RMDN3chr15

41043624

-SMIM14chr4

39574083

-
Frame-shiftENST00000338376ENST00000295958RMDN3chr15

41043624

-SMIM14chr4

39574083

-
Frame-shiftENST00000338376ENST00000511809RMDN3chr15

41043624

-SMIM14chr4

39574083

-
5CDS-5UTRENST00000338376ENST00000510628RMDN3chr15

41043624

-SMIM14chr4

39574083

-
5UTR-3CDSENST00000558560ENST00000295958RMDN3chr15

41043624

-SMIM14chr4

39574083

-
5UTR-3CDSENST00000558560ENST00000511809RMDN3chr15

41043624

-SMIM14chr4

39574083

-
5UTR-5UTRENST00000558560ENST00000510628RMDN3chr15

41043624

-SMIM14chr4

39574083

-

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FusionProtFeatures for RMDN3_SMIM14


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RMDN3

Q96TC7

SMIM14

Q96QK8

Involved in cellular calcium homeostasis regulation. Mayparticipate in differentiation and apoptosis of keratinocytes.Overexpression induces apoptosis. {ECO:0000269|PubMed:16820967,ECO:0000269|PubMed:22131369}.

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 RMDN3_SMIM14


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 RMDN3_SMIM14


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
RMDN3YWHAB, YWHAG, YWHAZ, VAPA, PSEN1, FAM3C, ATP6V1H, ATP6V1A, HNRNPD, HNRNPDL, FAM162A, ELAVL1, ILF3, TOMM40, HSPA5, GORASP2, TIMM17B, CYSRT1, MDC1, YWHAQ, EGFL8, HLA-DPA1, GPM6A, RMDN2, VAPB, PFKFB2, RAB5C, FOXA3, FOXL1, APOOL, NEUROG3, RAF1, MAPK1, PTPN1SMIM14ELAVL1, LSM4, FATE1


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 RMDN3_SMIM14


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 RMDN3_SMIM14


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