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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: 4806

FusionGeneSummary for C19orf57_ASXL2

check button Fusion gene summary
Fusion gene informationFusion gene name: C19orf57_ASXL2
Fusion gene ID: 4806
HgeneTgene
Gene symbol

C19orf57

ASXL2

Gene ID

79173

55252

Gene namechromosome 19 open reading frame 57ASXL transcriptional regulator 2
Synonyms-ASXH2|SHAPNS
Cytomap

19p13.12

2p23.3

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C19orf57pre-T/NK cell associated protein (3B3)putative Polycomb group protein ASXL2additional sex combs like 2, transcriptional regulatoradditional sex combs-like protein 2polycomb group protein ASXH2
Modification date2018052220180523
UniProtAcc

Q0VDD7

Q76L83

Ensembl transtripts involved in fusion geneENST00000586783, ENST00000454313, 
ENST00000346736, ENST00000591586, 
ENST00000435504, ENST00000336112, 
ENST00000272341, ENST00000404843, 
ENST00000497092, 
Fusion gene scores* DoF score1 X 1 X 1=17 X 10 X 5=350
# samples 110
** MAII scorelog2(1/1*10)=3.32192809488736log2(10/350*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C19orf57 [Title/Abstract] AND ASXL2 [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
TgeneASXL2

GO:0035360

positive regulation of peroxisome proliferator activated receptor signaling pathway

21047783

TgeneASXL2

GO:0045600

positive regulation of fat cell differentiation

21047783

TgeneASXL2

GO:0045944

positive regulation of transcription by RNA polymerase II

21047783


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
ChiTaRS3.1AK172757C19orf57chr19

14012708

+ASXL2chr2

25971264

-
* 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-intronENST00000586783ENST00000435504C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000586783ENST00000336112C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000586783ENST00000272341C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000586783ENST00000404843C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000586783ENST00000497092C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000454313ENST00000435504C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000454313ENST00000336112C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000454313ENST00000272341C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000454313ENST00000404843C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000454313ENST00000497092C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000346736ENST00000435504C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000346736ENST00000336112C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000346736ENST00000272341C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000346736ENST00000404843C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000346736ENST00000497092C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000591586ENST00000435504C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000591586ENST00000336112C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000591586ENST00000272341C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000591586ENST00000404843C19orf57chr19

14012708

+ASXL2chr2

25971264

-
intron-intronENST00000591586ENST00000497092C19orf57chr19

14012708

+ASXL2chr2

25971264

-

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FusionProtFeatures for C19orf57_ASXL2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C19orf57

Q0VDD7

ASXL2

Q76L83

Putative Polycomb group (PcG) protein. PcG proteins actby forming multiprotein complexes, which are required to maintainthe transcriptionally repressive state of homeotic genesthroughout development. PcG proteins are not required to initiaterepression, but to maintain it during later stages of development.They probably act via methylation of histones, rendering chromatinheritably changed in its expressibility (By similarity). Involvedin transcriptional regulation mediated by ligand-bound nuclearhormone receptors, such as peroxisome proliferator-activatedreceptor gamma (PPARG). Acts as coactivator for PPARG and enhancesits adipocyte differentiation-inducing activity; the functionseems to involve differential recruitment of acetylated andmethylated histone H3. {ECO:0000250, ECO:0000269|PubMed:21047783}.

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 C19orf57_ASXL2


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 C19orf57_ASXL2


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 C19orf57_ASXL2


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 C19orf57_ASXL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneASXL2C0005695Bladder Neoplasm1CTD_human
TgeneASXL2C0023467Leukemia, Myelocytic, Acute1CTD_human