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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: 8148

FusionGeneSummary for COTL1_G6PC3

check button Fusion gene summary
Fusion gene informationFusion gene name: COTL1_G6PC3
Fusion gene ID: 8148
HgeneTgene
Gene symbol

COTL1

G6PC3

Gene ID

23406

92579

Gene namecoactosin like F-actin binding protein 1glucose-6-phosphatase catalytic subunit 3
SynonymsCLPSCN4|UGRP
Cytomap

16q24.1

17q21.31

Type of geneprotein-codingprotein-coding
Descriptioncoactosin-like proteincoactosin-like 1glucose-6-phosphatase 3G-6-Pase 3G6Pase 3G6Pase-betaglucose 6 phosphatase, catalytic, 3ubiquitous glucose-6-phosphatase catalytic subunit-related proteinubiquitously expressed G6Pase catalytic subunit-related protein
Modification date2018051920180523
UniProtAcc

Q14019

Q9BUM1

Ensembl transtripts involved in fusion geneENST00000262428, ENST00000567278, 
ENST00000564057, 
ENST00000269097, 
Fusion gene scores* DoF score5 X 5 X 2=502 X 2 X 2=8
# samples 52
** MAII scorelog2(5/50*10)=0log2(2/8*10)=1.32192809488736
Context

PubMed: COTL1 [Title/Abstract] AND G6PC3 [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
ChiTaRS3.1BP430643COTL1chr16

84599590

-G6PC3chr17

42153420

+
* 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
intron-3UTRENST00000262428ENST00000269097COTL1chr16

84599590

-G6PC3chr17

42153420

+
intron-3UTRENST00000567278ENST00000269097COTL1chr16

84599590

-G6PC3chr17

42153420

+
intron-3UTRENST00000564057ENST00000269097COTL1chr16

84599590

-G6PC3chr17

42153420

+

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FusionProtFeatures for COTL1_G6PC3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COTL1

Q14019

G6PC3

Q9BUM1

Binds to F-actin in a calcium-independent manner. Has nodirect effect on actin depolymerization. Acts as a chaperone forALOX5 (5LO), influencing both its stability and activity inleukotrienes synthesis. {ECO:0000269|PubMed:11583571,ECO:0000269|PubMed:19807693}. Hydrolyzes glucose-6-phosphate to glucose in theendoplasmic reticulum. May form with the glucose-6-phosphatetransporter (SLC37A4/G6PT) a ubiquitously expressed complexresponsible for glucose production through glycogenolysis andgluconeogenesis. Probably required for normal neutrophil function.{ECO:0000269|PubMed:12370122, ECO:0000269|PubMed:12965222,ECO:0000269|PubMed:13129915}.

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 COTL1_G6PC3


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 COTL1_G6PC3


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 COTL1_G6PC3


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 COTL1_G6PC3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOTL1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOTL1C1458155Mammary Neoplasms1CTD_human
TgeneG6PC3C2675526Neutropenia, Severe Congenital, Autosomal Recessive 45CTD_human;ORPHANET;UNIPROT