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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: 14513

FusionGeneSummary for GCSH_PKD1L2

check button Fusion gene summary
Fusion gene informationFusion gene name: GCSH_PKD1L2
Fusion gene ID: 14513
HgeneTgene
Gene symbol

GCSH

PKD1L2

Gene ID

2653

114780

Gene nameglycine cleavage system protein Hpolycystin 1 like 2 (gene/pseudogene)
SynonymsGCE|NKHPC1L2
Cytomap

16q23.2

16q23.2

Type of geneprotein-codingprotein-coding
Descriptionglycine cleavage system H protein, mitochondrialglycine cleavage system protein H (aminomethyl carrier)lipoic acid-containing proteinmitochondrial glycine cleavage system H-proteinpolycystic kidney disease protein 1-like 2PC1-like 2 proteinpolycystic kidney disease 1-like 2polycystin-1L2
Modification date2018052220180523
UniProtAcc

P23434

Q7Z442

Ensembl transtripts involved in fusion geneENST00000315467, ENST00000566566, 
ENST00000534142, ENST00000533478, 
ENST00000525539, ENST00000531391, 
ENST00000337114, ENST00000527937, 
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: GCSH [Title/Abstract] AND PKD1L2 [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
HgeneGCSH

GO:0009249

protein lipoylation

1671321


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
TCGALDLUSCTCGA-94-8490-01AGCSHchr16

81129736

-PKD1L2chr16

81157389

-
* 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-5UTRENST00000315467ENST00000534142GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-5UTRENST00000315467ENST00000533478GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-5UTRENST00000315467ENST00000525539GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-intronENST00000315467ENST00000531391GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-intronENST00000315467ENST00000337114GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-intronENST00000315467ENST00000527937GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-5UTRENST00000566566ENST00000534142GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-5UTRENST00000566566ENST00000533478GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-5UTRENST00000566566ENST00000525539GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-intronENST00000566566ENST00000531391GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-intronENST00000566566ENST00000337114GCSHchr16

81129736

-PKD1L2chr16

81157389

-
5CDS-intronENST00000566566ENST00000527937GCSHchr16

81129736

-PKD1L2chr16

81157389

-

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FusionProtFeatures for GCSH_PKD1L2


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

P23434

PKD1L2

Q7Z442

The glycine cleavage system catalyzes the degradation ofglycine. The H protein (GCSH) shuttles the methylamine group ofglycine from the P protein (GLDC) to the T protein (GCST).{ECO:0000269|PubMed:1671321}. May function as an ion-channel regulator. May functionas a G-protein-coupled receptor. {ECO:0000269|PubMed:15203210}.

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 GCSH_PKD1L2


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 GCSH_PKD1L2


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
GCSHNMI, ING5, ZBTB16, SFI1, PSMA1, PSMD5, XPOT, PSMB5PKD1L2SRPK2, MTNR1A


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 GCSH_PKD1L2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGCSHP23434DB00145GlycineGlycine cleavage system H protein, mitochondrial {ECO:0000303|PubMed:1671321}small moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for GCSH_PKD1L2


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