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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: 29924

FusionGeneSummary for RAB1B_MTMR2

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB1B_MTMR2
Fusion gene ID: 29924
HgeneTgene
Gene symbol

RAB1B

MTMR2

Gene ID

81876

8898

Gene nameRAB1B, member RAS oncogene familymyotubularin related protein 2
Synonyms-CMT4B|CMT4B1
Cytomap

11q13.2

11q21

Type of geneprotein-codingprotein-coding
Descriptionras-related protein Rab-1Bsmall GTP-binding proteinmyotubularin-related protein 2phosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphatasephosphatidylinositol-3-phosphate phosphatasephosphoinositide-3-phosphatase
Modification date2018052320180519
UniProtAcc

Q9H0U4

Q13614

Ensembl transtripts involved in fusion geneENST00000311481, ENST00000527397, 
ENST00000393223, ENST00000346299, 
ENST00000409459, ENST00000352297, 
ENST00000484818, 
Fusion gene scores* DoF score5 X 5 X 3=753 X 3 X 2=18
# samples 53
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RAB1B [Title/Abstract] AND MTMR2 [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
TgeneMTMR2

GO:0046856

phosphatidylinositol dephosphorylation

12668758

TgeneMTMR2

GO:0060304

regulation of phosphatidylinositol dephosphorylation

16787938


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
TCGARVLUADTCGA-55-8615-01ARAB1Bchr11

66036164

+MTMR2chr11

95598840

-
* 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-5UTRENST00000311481ENST00000393223RAB1Bchr11

66036164

+MTMR2chr11

95598840

-
5CDS-5UTRENST00000311481ENST00000346299RAB1Bchr11

66036164

+MTMR2chr11

95598840

-
5CDS-5UTRENST00000311481ENST00000409459RAB1Bchr11

66036164

+MTMR2chr11

95598840

-
5CDS-5UTRENST00000311481ENST00000352297RAB1Bchr11

66036164

+MTMR2chr11

95598840

-
5CDS-5UTRENST00000311481ENST00000484818RAB1Bchr11

66036164

+MTMR2chr11

95598840

-
5CDS-5UTRENST00000527397ENST00000393223RAB1Bchr11

66036164

+MTMR2chr11

95598840

-
5CDS-5UTRENST00000527397ENST00000346299RAB1Bchr11

66036164

+MTMR2chr11

95598840

-
5CDS-5UTRENST00000527397ENST00000409459RAB1Bchr11

66036164

+MTMR2chr11

95598840

-
5CDS-5UTRENST00000527397ENST00000352297RAB1Bchr11

66036164

+MTMR2chr11

95598840

-
5CDS-5UTRENST00000527397ENST00000484818RAB1Bchr11

66036164

+MTMR2chr11

95598840

-

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FusionProtFeatures for RAB1B_MTMR2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAB1B

Q9H0U4

MTMR2

Q13614

The small GTPases Rab are key regulators ofintracellular membrane trafficking, from the formation oftransport vesicles to their fusion with membranes. Rabs cyclebetween an inactive GDP-bound form and an active GTP-bound formthat is able to recruit to membranes different set of downstreameffectors directly responsible for vesicle formation, movement,tethering and fusion. RAB1B regulates vesicular transport betweenthe endoplasmic reticulum and successive Golgi compartments. Playsa role in the initial events of the autophagic vacuole developmentwhich take place at specialized regions of the endoplasmicreticulum. {ECO:0000269|PubMed:20545908,ECO:0000269|PubMed:9437002}. Phosphatase that acts on lipids with a phosphoinositolheadgroup. Has phosphatase activity towards phosphatidylinositol3-phosphate and phosphatidylinositol 3,5-bisphosphate.{ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758,ECO:0000269|PubMed:21372139}.

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 RAB1B_MTMR2


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 RAB1B_MTMR2


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
RAB1BVHL, GDI1, CHM, GOLGA2, APP, RAB11B, RAB8A, RAB11A, UBL4A, BAG3, SMARCC2, TOMM40L, HSPD1, LSM2, RNH1, EED, GDI2, RAB1A, RAB8B, CHML, BZW2, RABGGTA, RAB33B, RAP1GDS1, ACTL6A, RNF26, ATP1A1, ATP1A3, CCDC47, CYC1, DHRS7B, DNAJA3, ETFA, KDSR, LDHA, LDHB, LDHC, COX2, PDCD6, PHB, AHSA1, ARF1, ATP1B1, ATP1B3, CANX, CDC42, DUT, HSD17B12, NDUFS8, PLIN3, RAB5A, RAB5B, RAB5C, RAP2C, SSRP1, TECR, TMCO1, TOMM40, UQCRC2, UQCRQ, RAB2A, RAB6A, RAB6B, RAB7A, RDH13, RPN1, RPN2, STX12, STX7, TMED2, VAPA, RAB18, VPS52, TRAPPC12, RIC1, COG3, COG7, TRAPPC13, VPS54, CDC73, RAB2B, RABIF, DLST, PDHA1MTMR2SBF1, MTMR2, ELAVL1, RFC5, SNTA1, HSF1, SZRD1, CTPS2, EHD4, LRSAM1, PLIN3, XPNPEP1, UNK, MTMR11, CCDC22, MTMR1, MTMR10, MTMR12, NFKB1, SBF2, TUBA1B, MTMR9, EYA3, SEPSECS, NUDT16, GADD45GIP1, RPS19BP1, MRTO4, EBNA1BP2, RPL3L, ERBB4, ERBB3, ROR2


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 RAB1B_MTMR2


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 RAB1B_MTMR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAB1BC0151744Myocardial Ischemia1CTD_human
TgeneMTMR2C1832399Charcot-Marie-Tooth disease, Type 4B11CTD_human;ORPHANET;UNIPROT