UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level1

	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:SPEN-DOK7

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: SPEN-DOK7
	FusionPDB ID: 85717
	FusionGDB2.0 ID: 85717
		Hgene	Tgene
	Gene symbol	SPEN	DOK7
	Gene ID	64783	285489
	Gene name	RNA binding motif protein 15	docking protein 7
	Synonyms	OTT\|OTT1\|SPEN	C4orf25\|CMS10\|CMS1B\|FADS3
	Cytomap	1p13.3	4p16.3
	Type of gene	protein-coding	protein-coding
	Description	RNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1putative RNA-binding protein 15	protein Dok-7downstream of tyrosine kinase 7
	Modification date	20200313	20200313
	UniProtAcc	.	Q18PE1
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000375759, ENST00000471538,	ENST00000512714, ENST00000340083, ENST00000389653, ENST00000507039,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	20 X 12 X 15=3600	3 X 3 X 2=18
	# samples	31	3
	** MAII score	log2(31/3600*10)=-3.5376567859428 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: SPEN [Title/Abstract] AND DOK7 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	SPEN(16174645)-DOK7(3487265), # samples:1
Anticipated loss of major functional domain due to fusion event.	SPEN-DOK7 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SPEN-DOK7 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SPEN-DOK7 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. SPEN-DOK7 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. SPEN-DOK7 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. SPEN-DOK7 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. SPEN-DOK7 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. SPEN-DOK7 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.

* 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
Hgene	SPEN	GO:0000381	regulation of alternative mRNA splicing, via spliceosome	26575292
Hgene	SPEN	GO:0001510	RNA methylation	27602518
Hgene	SPEN	GO:0009048	dosage compensation by inactivation of X chromosome	27602518
Hgene	SPEN	GO:0045652	regulation of megakaryocyte differentiation	26575292
Hgene	SPEN	GO:0045892	negative regulation of transcription, DNA-templated	16129689
Tgene	DOK7	GO:0061098	positive regulation of protein tyrosine kinase activity	20603078

Fusion gene breakpoints across SPEN (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across DOK7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	Non-Cancer	TCGA-AC-A2FB-11A	SPEN	chr1	16174645	+	DOK7	chr4	3487265	+

Top

Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

ENST00000375759

SPEN

chr1

16174645

ENST00000507039

DOK7

chr4

3487265

2252

287

304

1269

321

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000375759	ENST00000507039	SPEN	chr1	16174645	+	DOK7	chr4	3487265	+	0.6164294	0.38357055

Top

Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>85717_85717_1_SPEN-DOK7_SPEN_chr1_16174645_ENST00000375759_DOK7_chr4_3487265_ENST00000507039_length(amino acids)=321AA_BP=
MSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHL
DVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVW
RATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRG

--------------------------------------------------------------

Top

Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:16174645/chr4:3487265)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
.	DOK7 Q18PE1
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.	FUNCTION: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. {ECO:0000269\|PubMed:20603078}.

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.

- 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

Tgene

DOK7

chr1:16174645

chr4:3487265

ENST00000340083

262_359

177.33333333333334

505.0

Compositional bias

Note=Ser-rich

Tgene

DOK7

chr1:16174645

chr4:3487265

ENST00000389653

262_359

177.33333333333334

609.0

Compositional bias

Note=Ser-rich

Tgene

DOK7

chr1:16174645

chr4:3487265

ENST00000507039

262_359

173.66666666666666

256.0

Compositional bias

Note=Ser-rich

- 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

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

1170_1191

27.666666666666668

3665.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

1408_1428

27.666666666666668

3665.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

1496_1529

27.666666666666668

3665.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

1592_1612

27.666666666666668

3665.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

1928_1944

27.666666666666668

3665.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

688_715

27.666666666666668

3665.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

977_1004

27.666666666666668

3665.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

125_277

27.666666666666668

3665.0

Compositional bias

Note=Arg-rich

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

240_325

27.666666666666668

3665.0

Compositional bias

Note=Ser-rich

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

2428_2520

27.666666666666668

3665.0

Compositional bias

Note=Pro-rich

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

3220_3482

27.666666666666668

3665.0

Compositional bias

Note=Pro-rich

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

616_810

27.666666666666668

3665.0

Compositional bias

Note=Arg-rich

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

624_697

27.666666666666668

3665.0

Compositional bias

Note=Tyr-rich

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

1_573

27.666666666666668

3665.0

DNA binding

Ontology_term=ECO:0000250

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

2201_2707

27.666666666666668

3665.0

Domain

Note=RID

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

335_415

27.666666666666668

3665.0

Domain

RRM 2

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

3498_3664

27.666666666666668

3665.0

Domain

SPOC

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

438_513

27.666666666666668

3665.0

Domain

RRM 3

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

517_589

27.666666666666668

3665.0

Domain

RRM 4

Hgene

SPEN

chr1:16174645

chr4:3487265

ENST00000375759

6_81

27.666666666666668

3665.0

Domain

RRM 1

Tgene

DOK7

chr1:16174645

chr4:3487265

ENST00000340083

105_210

177.33333333333334

505.0

Domain

IRS-type PTB

Tgene

DOK7

chr1:16174645

chr4:3487265

ENST00000340083

4_109

177.33333333333334

505.0

Domain

Tgene

DOK7

chr1:16174645

chr4:3487265

ENST00000389653

105_210

177.33333333333334

609.0

Domain

IRS-type PTB

Tgene

DOK7

chr1:16174645

chr4:3487265

ENST00000389653

4_109

177.33333333333334

609.0

Domain

Tgene

DOK7

chr1:16174645

chr4:3487265

ENST00000507039

105_210

173.66666666666666

256.0

Domain

IRS-type PTB

Tgene

DOK7

chr1:16174645

chr4:3487265

ENST00000507039

4_109

173.66666666666666

256.0

Domain

Top

Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
SPEN
DOK7

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	SPEN	chr1:16174645	chr4:3487265	ENST00000375759	+	1	15	2130_2464	27.666666666666668	3665.0	MSX2
Hgene	SPEN	chr1:16174645	chr4:3487265	ENST00000375759	+	1	15	2709_2870	27.666666666666668	3665.0	RBPSUH

Top

Related Drugs to SPEN-DOK7

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to SPEN-DOK7

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source