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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: 14539

FusionGeneSummary for GDI1_TMEM181

check button Fusion gene summary
Fusion gene informationFusion gene name: GDI1_TMEM181
Fusion gene ID: 14539
HgeneTgene
Gene symbol

GDI1

TMEM181

Gene ID

2664

57583

Gene nameGDP dissociation inhibitor 1transmembrane protein 181
Synonyms1A|GDIL|MRX41|MRX48|OPHN2|RABGD1A|RABGDIA|XAP-4GPR178|KIAA1423
Cytomap

Xq28

6q25.3

Type of geneprotein-codingprotein-coding
Descriptionrab GDP dissociation inhibitor alphaGDI-1guanosine diphosphate dissociation inhibitor 1mental retardation, X-linked 48oligophrenin-2protein XAP-4rab GDI alpharab GDP-dissociation inhibitor, alphatestis secretory sperm-binding protein Li 208atransmembrane protein 181G protein-coupled receptor 178
Modification date2018051920180523
UniProtAcc

P31150

Q9P2C4

Ensembl transtripts involved in fusion geneENST00000447750, ENST00000465640, 
ENST00000367090, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 3 X 1=9
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GDI1 [Title/Abstract] AND TMEM181 [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
ChiTaRS3.1BI859574GDI1chrX

153670075

+TMEM181chr6

159056334

+
* 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-3UTRENST00000447750ENST00000367090GDI1chrX

153670075

+TMEM181chr6

159056334

+
intron-3UTRENST00000465640ENST00000367090GDI1chrX

153670075

+TMEM181chr6

159056334

+

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FusionProtFeatures for GDI1_TMEM181


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GDI1

P31150

TMEM181

Q9P2C4

Regulates the GDP/GTP exchange reaction of most Rabproteins by inhibiting the dissociation of GDP from them, and thesubsequent binding of GTP to them. Promotes the dissociation ofGDP-bound Rab proteins from the membrane and inhibits theiractivation. Promotes the dissociation of RAB1A, RAB3A, RAB5A andRAB10 from membranes. {ECO:0000269|PubMed:23815289}. Mediates action of cytolethal distending toxins (CDT),which are secreted by many pathogenic bacteria. Expression levelof TMEM181 is rate-limiting for intoxication.{ECO:0000269|PubMed:19965467}.

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 GDI1_TMEM181


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 GDI1_TMEM181


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 GDI1_TMEM181


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 GDI1_TMEM181


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGDI1C1136249Mental Retardation, X-Linked2CTD_human
HgeneGDI1C3887939MENTAL RETARDATION, X-LINKED 412UNIPROT
HgeneGDI1C1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human