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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SORD-SQRDL (FusionGDB2 ID:84639)

Fusion Gene Summary for SORD-SQRDL

check button Fusion gene summary
Fusion gene informationFusion gene name: SORD-SQRDL
Fusion gene ID: 84639
HgeneTgene
Gene symbol

SORD

SQRDL

Gene ID

6652

58472

Gene namesorbitol dehydrogenasesulfide quinone oxidoreductase
SynonymsHEL-S-95n|RDH|SDH|SORD1|XDHCGI-44|PRO1975|SQR|SQRDL
Cytomap

15q21.1

15q21.1

Type of geneprotein-codingprotein-coding
Descriptionsorbitol dehydrogenase(R,R)-butanediol dehydrogenaseL-iditol 2-dehydrogenaseepididymis secretory sperm binding protein Li 95npolyol dehydrogenaseribitol dehydrogenasexylitol dehydrogenasesulfide:quinone oxidoreductase, mitochondrialsulfide dehydrogenase likesulfide quinone reductase-like
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000267814, ENST00000558580, 
ENST00000559562, 
ENST00000568606, 
ENST00000260324, 
Fusion gene scores* DoF score7 X 4 X 4=1127 X 8 X 6=336
# samples 98
** MAII scorelog2(9/112*10)=-0.315501825727929
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SORD [Title/Abstract] AND SQRDL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSORD(45315547)-SQRDL(45974676), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneSORD

GO:0006062

sorbitol catabolic process

3365415|6870831|8487505|12962626

HgeneSORD

GO:0046370

fructose biosynthetic process

3365415|6870831|8487505

HgeneSORD

GO:0051160

L-xylitol catabolic process

8487505

HgeneSORD

GO:0051164

L-xylitol metabolic process

3365415

TgeneSQRDL

GO:0070221

sulfide oxidation, using sulfide:quinone oxidoreductase

22852582

TgeneSQRDL

GO:0070813

hydrogen sulfide metabolic process

22852582


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

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

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-7722-01ASORDchr15

45315547

+SQRDLchr15

45974676

+


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Fusion Gene ORF analysis for SORD-SQRDL

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
In-frameENST00000267814ENST00000568606SORDchr15

45315547

+SQRDLchr15

45974676

+
In-frameENST00000267814ENST00000260324SORDchr15

45315547

+SQRDLchr15

45974676

+
intron-3CDSENST00000558580ENST00000568606SORDchr15

45315547

+SQRDLchr15

45974676

+
intron-3CDSENST00000558580ENST00000260324SORDchr15

45315547

+SQRDLchr15

45974676

+
intron-3CDSENST00000559562ENST00000568606SORDchr15

45315547

+SQRDLchr15

45974676

+
intron-3CDSENST00000559562ENST00000260324SORDchr15

45315547

+SQRDLchr15

45974676

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000267814SORDchr1545315547+ENST00000568606SQRDLchr1545974676+985246180734184
ENST00000267814SORDchr1545315547+ENST00000260324SQRDLchr1545974676+999246180734184

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000267814ENST00000568606SORDchr1545315547+SQRDLchr1545974676+0.0030144870.9969855
ENST00000267814ENST00000260324SORDchr1545315547+SQRDLchr1545974676+0.0029067380.9970932

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Fusion Genomic Features for SORD-SQRDL


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
SORDchr1545315547+SQRDLchr1545974675+1.91E-081
SORDchr1545315547+SQRDLchr1545974675+1.91E-081

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SORD-SQRDL


check button Go to

FGviewer for the breakpoints of chr15:45315547-chr15:45974676

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

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
TgeneSQRDLchr15:45315547chr15:45974676ENST00000260324510344_347288.0451.0Nucleotide bindingFAD
TgeneSQRDLchr15:45315547chr15:45974676ENST00000568606611344_347288.0451.0Nucleotide bindingFAD

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSORDchr15:45315547chr15:45974676ENST00000267814+19273_27522.0358.0Nucleotide bindingNAD
HgeneSORDchr15:45315547chr15:45974676ENST00000267814+19297_29922.0358.0Nucleotide bindingNAD
TgeneSQRDLchr15:45315547chr15:45974676ENST0000026032451053_54288.0451.0Nucleotide bindingFAD
TgeneSQRDLchr15:45315547chr15:45974676ENST0000056860661153_54288.0451.0Nucleotide bindingFAD


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Fusion Gene Sequence for SORD-SQRDL


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000267814_ENST00000568606_TCGA-BR-7722-01A_SORD_chr15_45315547_+_SQRDL_chr15_45974676_length(transcript)=985nt_BP=246nt
CTCCACGCTAGCGCCGCCCAGGCTGGCACAAAGGAGGAAGCCTAGTCCCGCCCCTGCGTGCGGCGCTTCTCCCAGGCCCCACCTTCCATC
CAGTGCCCTGGACCCTCGGCTGGGTAGCGCCACCAGAGCGACCAAACGTCCCGCGCCTTCCAGGCCGCACTCCAGAGCCAAAAGAGCTCC
ATGGCGGCGGCGGCCAAGCCCAACAACCTTTCCCTGGTGGTGCACGGACCGGGGGACTTGCGCCTGTATGAAATGCTTCATGTCACACCT
CCAATGAGCCCACCAGATGTCCTCAAGACCAGTCCTGTGGCTGATGCTGCTGGTTGGGTGGATGTGGATAAAGAAACTCTGCAACACAGG
AGGTACCCAAATGTGTTTGGGATTGGGGACTGCACCAACCTTCCTACGTCAAAGACCGCTGCTGCAGTAGCTGCCCAGTCAGGAATACTT
GATAGGACAATTTCTGTAATTATGAAGAATCAAACACCAACAAAGAAGTATGATGGCTACACATCATGTCCACTGGTGACCGGCTACAAC
CGTGTGATTCTTGCTGAGTTTGACTACAAAGCAGAGCCGCTAGAAACCTTCCCCTTTGATCAAAGCAAAGAGCGCCTTTCCATGTATCTC
ATGAAAGCTGACCTGATGCCTTTCCTGTATTGGAATATGATGCTAAGGGGTTACTGGGGAGGACCAGCGTTTCTGCGCAAGTTGTTTCAT
CTAGGTATGAGTTAAGGATGGCTCAGCACTTGCTCATCTTGGATGGCTTCTGGGCCAAAACTGCAGTCACTGAATGACCAAGAGCAGCAC
GAAGGACTTGGAACCTATCCTTGTAAAGAGTTCCTTGATGGGTAATGGTGACCAAATGCCTCCCTTTTCAGTACCTTTGAACAGCAACCA

>In-frame_ENST00000267814_ENST00000568606_TCGA-BR-7722-01A_SORD_chr15_45315547_+_SQRDL_chr15_45974676_length(amino acids)=184AA_start in transcript=180_stop in transcript=734
MAAAAKPNNLSLVVHGPGDLRLYEMLHVTPPMSPPDVLKTSPVADAAGWVDVDKETLQHRRYPNVFGIGDCTNLPTSKTAAAVAAQSGIL
DRTISVIMKNQTPTKKYDGYTSCPLVTGYNRVILAEFDYKAEPLETFPFDQSKERLSMYLMKADLMPFLYWNMMLRGYWGGPAFLRKLFH

--------------------------------------------------------------
>In-frame_ENST00000267814_ENST00000260324_TCGA-BR-7722-01A_SORD_chr15_45315547_+_SQRDL_chr15_45974676_length(transcript)=999nt_BP=246nt
CTCCACGCTAGCGCCGCCCAGGCTGGCACAAAGGAGGAAGCCTAGTCCCGCCCCTGCGTGCGGCGCTTCTCCCAGGCCCCACCTTCCATC
CAGTGCCCTGGACCCTCGGCTGGGTAGCGCCACCAGAGCGACCAAACGTCCCGCGCCTTCCAGGCCGCACTCCAGAGCCAAAAGAGCTCC
ATGGCGGCGGCGGCCAAGCCCAACAACCTTTCCCTGGTGGTGCACGGACCGGGGGACTTGCGCCTGTATGAAATGCTTCATGTCACACCT
CCAATGAGCCCACCAGATGTCCTCAAGACCAGTCCTGTGGCTGATGCTGCTGGTTGGGTGGATGTGGATAAAGAAACTCTGCAACACAGG
AGGTACCCAAATGTGTTTGGGATTGGGGACTGCACCAACCTTCCTACGTCAAAGACCGCTGCTGCAGTAGCTGCCCAGTCAGGAATACTT
GATAGGACAATTTCTGTAATTATGAAGAATCAAACACCAACAAAGAAGTATGATGGCTACACATCATGTCCACTGGTGACCGGCTACAAC
CGTGTGATTCTTGCTGAGTTTGACTACAAAGCAGAGCCGCTAGAAACCTTCCCCTTTGATCAAAGCAAAGAGCGCCTTTCCATGTATCTC
ATGAAAGCTGACCTGATGCCTTTCCTGTATTGGAATATGATGCTAAGGGGTTACTGGGGAGGACCAGCGTTTCTGCGCAAGTTGTTTCAT
CTAGGTATGAGTTAAGGATGGCTCAGCACTTGCTCATCTTGGATGGCTTCTGGGCCAAAACTGCAGTCACTGAATGACCAAGAGCAGCAC
GAAGGACTTGGAACCTATCCTTGTAAAGAGTTCCTTGATGGGTAATGGTGACCAAATGCCTCCCTTTTCAGTACCTTTGAACAGCAACCA
TGTGGGCTACTCATGATGGGCTTGATTCTTTGGGAATAATAAAATGAAATAATACTTTTATTTTCTGAATAAAAGTTTGTCACTGATTGT

>In-frame_ENST00000267814_ENST00000260324_TCGA-BR-7722-01A_SORD_chr15_45315547_+_SQRDL_chr15_45974676_length(amino acids)=184AA_start in transcript=180_stop in transcript=734
MAAAAKPNNLSLVVHGPGDLRLYEMLHVTPPMSPPDVLKTSPVADAAGWVDVDKETLQHRRYPNVFGIGDCTNLPTSKTAAAVAAQSGIL
DRTISVIMKNQTPTKKYDGYTSCPLVTGYNRVILAEFDYKAEPLETFPFDQSKERLSMYLMKADLMPFLYWNMMLRGYWGGPAFLRKLFH

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

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Fusion Gene PPI Analysis for SORD-SQRDL


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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Related Drugs for SORD-SQRDL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SORD-SQRDL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSORDC0019193Hepatitis, Toxic1CTD_human
HgeneSORDC0027055Myocardial Reperfusion Injury1CTD_human
HgeneSORDC0520459Necrotizing Enterocolitis1CTD_human
HgeneSORDC0860207Drug-Induced Liver Disease1CTD_human
HgeneSORDC1262760Hepatitis, Drug-Induced1CTD_human
HgeneSORDC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneSORDC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneSORDC4279912Chemically-Induced Liver Toxicity1CTD_human