	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 17041

FusionGeneSummary for IDS_PUM2

Fusion gene summary

Fusion gene information	Fusion gene name: IDS_PUM2
	Fusion gene ID: 17041
		Hgene	Tgene
	Gene symbol	IDS	PUM2
	Gene ID	3423	23369
	Gene name	iduronate 2-sulfatase	pumilio RNA binding family member 2
	Synonyms	MPS2\|SIDS	PUMH2\|PUML2
	Cytomap	Xq28	2p24.1
	Type of gene	protein-coding	protein-coding
	Description	iduronate 2-sulfatasealpha-L-iduronate sulfate sulfataseiduronate 2-sulfatase 14 kDa chainiduronate 2-sulfatase 42 kDa chainidursulfase	pumilio homolog 2pumilio-2
	Modification date	20180523	20180522
	UniProtAcc	P22304	Q8TB72
	Ensembl transtripts involved in fusion gene	ENST00000340855, ENST00000537071, ENST00000541269, ENST00000422081, ENST00000370441, ENST00000490775, ENST00000370443, ENST00000427113, ENST00000428056,	ENST00000338086, ENST00000319801, ENST00000361078, ENST00000536417, ENST00000403432, ENST00000420234,
Fusion gene scores	* DoF score	7 X 9 X 2=126	8 X 7 X 5=280
	# samples	9	10
	** MAII score	log2(9/126*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/280*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: IDS [Title/Abstract] AND PUM2 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	PUM2	GO:0010608	posttranscriptional regulation of gene expression	25100735
Tgene	PUM2	GO:0043488	regulation of mRNA stability	26724866
Tgene	PUM2	GO:0051983	regulation of chromosome segregation	26724866
Tgene	PUM2	GO:1900246	positive regulation of RIG-I signaling pathway	25340845

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BF059161	IDS	chrX	148560598	+	PUM2	chr2	20493460	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-intron	ENST00000340855	ENST00000338086	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000340855	ENST00000319801	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000340855	ENST00000361078	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000340855	ENST00000536417	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000340855	ENST00000403432	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000340855	ENST00000420234	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000537071	ENST00000338086	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000537071	ENST00000319801	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000537071	ENST00000361078	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000537071	ENST00000536417	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000537071	ENST00000403432	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000537071	ENST00000420234	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000541269	ENST00000338086	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000541269	ENST00000319801	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000541269	ENST00000361078	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000541269	ENST00000536417	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000541269	ENST00000403432	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000541269	ENST00000420234	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000422081	ENST00000338086	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000422081	ENST00000319801	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000422081	ENST00000361078	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000422081	ENST00000536417	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000422081	ENST00000403432	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000422081	ENST00000420234	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370441	ENST00000338086	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370441	ENST00000319801	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370441	ENST00000361078	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370441	ENST00000536417	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370441	ENST00000403432	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370441	ENST00000420234	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000490775	ENST00000338086	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000490775	ENST00000319801	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000490775	ENST00000361078	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000490775	ENST00000536417	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000490775	ENST00000403432	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000490775	ENST00000420234	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370443	ENST00000338086	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370443	ENST00000319801	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370443	ENST00000361078	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370443	ENST00000536417	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370443	ENST00000403432	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000370443	ENST00000420234	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000427113	ENST00000338086	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000427113	ENST00000319801	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000427113	ENST00000361078	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000427113	ENST00000536417	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000427113	ENST00000403432	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000427113	ENST00000420234	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000428056	ENST00000338086	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000428056	ENST00000319801	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000428056	ENST00000361078	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000428056	ENST00000536417	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000428056	ENST00000403432	IDS	chrX	148560598	+	PUM2	chr2	20493460	+
intron-intron	ENST00000428056	ENST00000420234	IDS	chrX	148560598	+	PUM2	chr2	20493460	+

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FusionProtFeatures for IDS_PUM2

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
IDS P22304	PUM2 Q8TB72
Required for the lysosomal degradation of heparansulfate and dermatan sulfate.	Sequence-specific RNA-binding protein that acts as apost-transcriptional repressor by binding the 3'-UTR of mRNAtargets. Binds to an RNA consensus sequence, the Pumilio ResponseElement (PRE), 5'-UGUANAUA-3', that is related to the NanosResponse Element (NRE) (, PubMed:21397187). Mediates post-transcriptional repression of transcripts via differentmechanisms: acts via direct recruitment of the CCR4-POP2-NOTdeadenylase leading to translational inhibition and mRNAdegradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs(PubMed:18776931, PubMed:22345517). Acts as a post-transcriptionalrepressor of E2F3 mRNAs by binding to its 3'-UTR and facilitatingmiRNA regulation (PubMed:22345517). Plays a role in cytoplasmicsensing of viral infection (PubMed:25340845). Represses a programof genes necessary to maintain genomic stability such as keymitotic, DNA repair and DNA replication factors. Its ability torepress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its highabundance and multitude of PUMILIO binding sites, is able tosequester a significant fraction of PUM1 and PUM2 in the cytoplasm(PubMed:26724866). May regulate DCUN1D3 mRNA levels(PubMed:25349211). May support proliferation and self-renewal ofstem cells. Binds specifically to miRNA MIR199A precursor, withPUM1, regulates miRNA MIR199A expression at a postranscriptionallevel (PubMed:28431233). {ECO:0000269\|PubMed:18776931,ECO:0000269\|PubMed:21397187, ECO:0000269\|PubMed:22345517,ECO:0000269\|PubMed:22955276, ECO:0000269\|PubMed:25340845,ECO:0000269\|PubMed:25349211, ECO:0000269\|PubMed:26724866,ECO:0000269\|PubMed:28431233}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for IDS_PUM2

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 IDS_PUM2

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for IDS_PUM2

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for IDS_PUM2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	IDS	C0026705	Mucopolysaccharidosis II	28	CTD_human;UNIPROT

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Fusion gene ID: 17041

FusionGeneSummary for IDS_PUM2

FusionProtFeatures for IDS_PUM2

FusionGeneSequence for IDS_PUM2

FusionGenePPI for IDS_PUM2

RelatedDrugs for IDS_PUM2

RelatedDiseases for IDS_PUM2