	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 32326

FusionGeneSummary for RTEL1_RTEL1

Fusion gene summary

Fusion gene information	Fusion gene name: RTEL1_RTEL1
	Fusion gene ID: 32326
		Hgene	Tgene
	Gene symbol	RTEL1	RTEL1
	Gene ID	51750	51750
	Gene name	regulator of telomere elongation helicase 1	regulator of telomere elongation helicase 1
	Synonyms	C20orf41\|DKCA4\|DKCB5\|NHL\|PFBMFT3\|RTEL	C20orf41\|DKCA4\|DKCB5\|NHL\|PFBMFT3\|RTEL
	Cytomap	20q13.33	20q13.33
	Type of gene	protein-coding	protein-coding
	Description	regulator of telomere elongation helicase 1regulator of telomere length	regulator of telomere elongation helicase 1regulator of telomere length
	Modification date	20180523	20180523
	UniProtAcc	Q9NZ71	Q9NZ71
	Ensembl transtripts involved in fusion gene	ENST00000370018, ENST00000318100, ENST00000508582, ENST00000360203, ENST00000488316, ENST00000370003,	ENST00000370018, ENST00000318100, ENST00000508582, ENST00000360203, ENST00000488316, ENST00000370003,
Fusion gene scores	* DoF score	3 X 3 X 2=18	1 X 1 X 1=1
	# samples	3	1
	** MAII score	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(1/1*10)=3.32192809488736
Context	PubMed: RTEL1 [Title/Abstract] AND RTEL1 [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

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			BE879166	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+

* 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	ENST00000370018	ENST00000370018	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370018	ENST00000318100	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370018	ENST00000508582	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370018	ENST00000360203	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370018	ENST00000488316	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370018	ENST00000370003	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000318100	ENST00000370018	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000318100	ENST00000318100	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000318100	ENST00000508582	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000318100	ENST00000360203	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000318100	ENST00000488316	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000318100	ENST00000370003	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000508582	ENST00000370018	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000508582	ENST00000318100	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000508582	ENST00000508582	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000508582	ENST00000360203	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000508582	ENST00000488316	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000508582	ENST00000370003	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000360203	ENST00000370018	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000360203	ENST00000318100	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000360203	ENST00000508582	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000360203	ENST00000360203	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000360203	ENST00000488316	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000360203	ENST00000370003	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000488316	ENST00000370018	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000488316	ENST00000318100	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000488316	ENST00000508582	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000488316	ENST00000360203	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000488316	ENST00000488316	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000488316	ENST00000370003	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370003	ENST00000370018	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370003	ENST00000318100	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370003	ENST00000508582	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370003	ENST00000360203	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370003	ENST00000488316	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+
intron-intron	ENST00000370003	ENST00000370003	RTEL1	chr20	62328501	-	RTEL1	chr20	62328711	+

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FusionProtFeatures for RTEL1_RTEL1

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

Hgene	Tgene
RTEL1 Q9NZ71	RTEL1 Q9NZ71

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 RTEL1_RTEL1

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 RTEL1_RTEL1

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 RTEL1_RTEL1

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 RTEL1_RTEL1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	RTEL1	C3554656	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5	4	UNIPROT
Hgene	RTEL1	C0017638	Glioma	2	CTD_human
Hgene	RTEL1	C1800706	Idiopathic Pulmonary Fibrosis	1	CTD_human;ORPHANET
Hgene	RTEL1	C4225346	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3	1	UNIPROT
Tgene	RTEL1	C3554656	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5	4	UNIPROT
Tgene	RTEL1	C0017638	Glioma	2	CTD_human
Tgene	RTEL1	C1800706	Idiopathic Pulmonary Fibrosis	1	CTD_human;ORPHANET
Tgene	RTEL1	C4225346	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3	1	UNIPROT

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Fusion gene ID: 32326

FusionGeneSummary for RTEL1_RTEL1

FusionProtFeatures for RTEL1_RTEL1

FusionGeneSequence for RTEL1_RTEL1

FusionGenePPI for RTEL1_RTEL1

RelatedDrugs for RTEL1_RTEL1

RelatedDiseases for RTEL1_RTEL1