FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 27846

FusionGeneSummary for PNPLA1_KCTD10

check button Fusion gene summary
Fusion gene informationFusion gene name: PNPLA1_KCTD10
Fusion gene ID: 27846
HgeneTgene
Gene symbol

PNPLA1

KCTD10

Gene ID

285848

83892

Gene namepatatin like phospholipase domain containing 1potassium channel tetramerization domain containing 10
SynonymsARCI10|dJ50J22.1BTBD28|MSTP028|ULRO61|hBACURD3
Cytomap

6p21.31

12q24.11

Type of geneprotein-codingprotein-coding
Descriptionpatatin-like phospholipase domain-containing protein 1BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3BTB/POZ domain-containing protein KCTD10potassium channel tetramerisation domain containing 10potassium channel tetramerization domain-containing protein 10
Modification date2018052720180519
UniProtAcc

Q8N8W4

Q9H3F6

Ensembl transtripts involved in fusion geneENST00000312917, ENST00000388715, 
ENST00000394571, 
ENST00000228495, 
ENST00000540089, ENST00000424763, 
ENST00000538161, ENST00000540411, 
Fusion gene scores* DoF score3 X 2 X 1=63 X 3 X 1=9
# samples 33
** MAII scorelog2(3/6*10)=2.32192809488736log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PNPLA1 [Title/Abstract] AND KCTD10 [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
TgeneKCTD10

GO:0006511

ubiquitin-dependent protein catabolic process

25401743


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
ChiTaRS3.1BG218677PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
* 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-3UTRENST00000312917ENST00000228495PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000312917ENST00000540089PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000312917ENST00000424763PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000312917ENST00000538161PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000312917ENST00000540411PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-3UTRENST00000388715ENST00000228495PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000388715ENST00000540089PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000388715ENST00000424763PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000388715ENST00000538161PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000388715ENST00000540411PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-3UTRENST00000394571ENST00000228495PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000394571ENST00000540089PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000394571ENST00000424763PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000394571ENST00000538161PNPLA1chr6

36275488

+KCTD10chr12

109887290

-
5CDS-intronENST00000394571ENST00000540411PNPLA1chr6

36275488

+KCTD10chr12

109887290

-

Top

FusionProtFeatures for PNPLA1_KCTD10


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PNPLA1

Q8N8W4

KCTD10

Q9H3F6

Lipid hydrolase. Important in the formation of theepidermal lipid barrier. Plays a role in glycerophospholipidmetabolism. {ECO:0000269|PubMed:22246504}. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3ubiquitin-protein ligase complex. The BCR(BACURD3) E3 ubiquitinligase complex mediates the ubiquitination of target proteins,leading to their degradation by the proteasome (By similarity).{ECO:0000250|UniProtKB:Q8WZ19}.

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


Top

FusionGeneSequence for PNPLA1_KCTD10


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).

Top

FusionGenePPI for PNPLA1_KCTD10


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


Top

RelatedDrugs for PNPLA1_KCTD10


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for PNPLA1_KCTD10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePNPLA1C0020757Ichthyoses1CTD_human
HgenePNPLA1C3554355ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 101UNIPROT