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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: 37985

FusionGeneSummary for THG1L_PLEKHA1

check button Fusion gene summary
Fusion gene informationFusion gene name: THG1L_PLEKHA1
Fusion gene ID: 37985
HgeneTgene
Gene symbol

THG1L

PLEKHA1

Gene ID

54974

59338

Gene nametRNA-histidine guanylyltransferase 1 likepleckstrin homology domain containing A1
SynonymsICF45|IHG-1|hTHG1TAPP1
Cytomap

5q33.3

10q26.13

Type of geneprotein-codingprotein-coding
Descriptionprobable tRNA(His) guanylyltransferaseinduced by high glucose-1interphase cytoplasmic foci protein 45pleckstrin homology domain-containing family A member 1pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1tandem PH domain-containing protein 1
Modification date2018052320180523
UniProtAcc

Q9NWX6

Q9HB21

Ensembl transtripts involved in fusion geneENST00000231198, ENST00000494222, 
ENST00000368990, ENST00000368988, 
ENST00000368989, ENST00000538022, 
ENST00000433307, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: THG1L [Title/Abstract] AND PLEKHA1 [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
HgeneTHG1L

GO:0008033

tRNA processing

21059936

HgeneTHG1L

GO:0051289

protein homotetramerization

21059936

TgenePLEKHA1

GO:0014065

phosphatidylinositol 3-kinase signaling

12101241

TgenePLEKHA1

GO:0031529

ruffle organization

15485858

TgenePLEKHA1

GO:0045184

establishment of protein localization

14516276

TgenePLEKHA1

GO:0050853

B cell receptor signaling pathway

12101241

TgenePLEKHA1

GO:0070301

cellular response to hydrogen peroxide

14516276


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
ChiTaRS3.1BF668228THG1Lchr5

157164961

+PLEKHA1chr10

124190917

+
* 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-intronENST00000231198ENST00000494222THG1Lchr5

157164961

+PLEKHA1chr10

124190917

+
5CDS-3UTRENST00000231198ENST00000368990THG1Lchr5

157164961

+PLEKHA1chr10

124190917

+
5CDS-3UTRENST00000231198ENST00000368988THG1Lchr5

157164961

+PLEKHA1chr10

124190917

+
5CDS-3UTRENST00000231198ENST00000368989THG1Lchr5

157164961

+PLEKHA1chr10

124190917

+
5CDS-intronENST00000231198ENST00000538022THG1Lchr5

157164961

+PLEKHA1chr10

124190917

+
5CDS-3UTRENST00000231198ENST00000433307THG1Lchr5

157164961

+PLEKHA1chr10

124190917

+

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FusionProtFeatures for THG1L_PLEKHA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
THG1L

Q9NWX6

PLEKHA1

Q9HB21

Adds a GMP to the 5'-end of tRNA(His) aftertranscription and RNase P cleavage. This step is essential forproper recognition of the tRNA and for the fidelity of proteinsynthesis. {ECO:0000269|PubMed:21059936}. Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. Mayrecruit other proteins to the plasma membrane.{ECO:0000269|PubMed:11001876, ECO:0000269|PubMed:11513726,ECO:0000269|PubMed:14516276}.

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 THG1L_PLEKHA1


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 THG1L_PLEKHA1


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 THG1L_PLEKHA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePLEKHA1Q9HB21DB04272Citric AcidPleckstrin homology domain-containing family A member 1small moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for THG1L_PLEKHA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTHG1LC0016059Fibrosis1CTD_human
HgeneTHG1LC0022658Kidney Diseases1CTD_human