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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:SORD-RAB27A (FusionGDB2 ID:84637)

Fusion Gene Summary for SORD-RAB27A

Fusion gene summary

Fusion gene information	Fusion gene name: SORD-RAB27A
	Fusion gene ID: 84637
		Hgene	Tgene
	Gene symbol	SORD	RAB27A
	Gene ID	6652	5873
	Gene name	sorbitol dehydrogenase	RAB27A, member RAS oncogene family
	Synonyms	HEL-S-95n\|RDH\|SDH\|SORD1\|XDH	GS2\|HsT18676\|RAB27\|RAM
	Cytomap	15q21.1	15q21.3
	Type of gene	protein-coding	protein-coding
	Description	sorbitol dehydrogenase(R,R)-butanediol dehydrogenaseL-iditol 2-dehydrogenaseepididymis secretory sperm binding protein Li 95npolyol dehydrogenaseribitol dehydrogenasexylitol dehydrogenase	ras-related protein Rab-27AGTP-binding protein Rammutant Ras-related protein Rab-27Arab-27
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000267814, ENST00000558580, ENST00000559562,	ENST00000336787, ENST00000396307, ENST00000564609, ENST00000569493, ENST00000561545,
Fusion gene scores	* DoF score	7 X 4 X 4=112	6 X 5 X 6=180
	# samples	9	7
	** MAII score	log2(9/112*10)=-0.315501825727929 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/180*10)=-1.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SORD [Title/Abstract] AND RAB27A [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	SORD(45315547)-RAB27A(55497903), # samples:1
Anticipated loss of major functional domain due to fusion event.	SORD-RAB27A seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. SORD-RAB27A seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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	SORD	GO:0006062	sorbitol catabolic process	3365415\|6870831\|8487505\|12962626
Hgene	SORD	GO:0046370	fructose biosynthetic process	3365415\|6870831\|8487505
Hgene	SORD	GO:0051160	L-xylitol catabolic process	8487505
Hgene	SORD	GO:0051164	L-xylitol metabolic process	3365415
Tgene	RAB27A	GO:0006887	exocytosis	18812475

Fusion 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.

Fusion gene breakpoints across RAB27A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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	KICH	TCGA-KL-8341-01A	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-

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Fusion Gene ORF analysis for SORD-RAB27A

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
In-frame	ENST00000267814	ENST00000336787	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
Frame-shift	ENST00000267814	ENST00000396307	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
Frame-shift	ENST00000267814	ENST00000564609	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
In-frame	ENST00000267814	ENST00000569493	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
5CDS-intron	ENST00000267814	ENST00000561545	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
intron-3CDS	ENST00000558580	ENST00000336787	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
intron-3CDS	ENST00000558580	ENST00000396307	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
intron-3CDS	ENST00000558580	ENST00000564609	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
intron-3CDS	ENST00000558580	ENST00000569493	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
intron-intron	ENST00000558580	ENST00000561545	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
intron-3CDS	ENST00000559562	ENST00000336787	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
intron-3CDS	ENST00000559562	ENST00000396307	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
intron-3CDS	ENST00000559562	ENST00000564609	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
intron-3CDS	ENST00000559562	ENST00000569493	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-
intron-intron	ENST00000559562	ENST00000561545	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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)

ENST00000267814

SORD

chr15

45315547

ENST00000336787

RAB27A

chr15

55497903

2348

246

536

838

100

ENST00000267814

SORD

chr15

45315547

ENST00000569493

RAB27A

chr15

55497903

599

246

294

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
ENST00000267814	ENST00000336787	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-	0.863208	0.136792
ENST00000267814	ENST00000569493	SORD	chr15	45315547	+	RAB27A	chr15	55497903	-	0.63116455	0.36883545

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Fusion Genomic Features for SORD-RAB27A

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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-RAB27A

Go to
FGviewer for the breakpoints of chr15:45315547-chr15:55497903
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

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

Hgene	Tgene
.	.
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.

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

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000336787

163_165

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000396307

163_165

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000564609

163_165

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000569493

163_165

155.66666666666666

222.0

Nucleotide binding

GTP

- 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

Hgene

SORD

chr15:45315547

chr15:55497903

ENST00000267814

273_275

22.0

358.0

Nucleotide binding

NAD

Hgene

SORD

chr15:45315547

chr15:55497903

ENST00000267814

297_299

22.0

358.0

Nucleotide binding

NAD

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000336787

38_46

155.66666666666666

222.0

Motif

Effector region

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000396307

38_46

155.66666666666666

222.0

Motif

Effector region

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000564609

38_46

155.66666666666666

222.0

Motif

Effector region

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000569493

38_46

155.66666666666666

222.0

Motif

Effector region

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000336787

133_136

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000336787

16_24

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000336787

74_78

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000396307

133_136

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000396307

16_24

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000396307

74_78

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000564609

133_136

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000564609

16_24

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000564609

74_78

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000569493

133_136

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000569493

16_24

155.66666666666666

222.0

Nucleotide binding

GTP

Tgene

RAB27A

chr15:45315547

chr15:55497903

ENST00000569493

74_78

155.66666666666666

222.0

Nucleotide binding

GTP

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Fusion Gene Sequence for SORD-RAB27A

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_ENST00000336787_TCGA-KL-8341-01A_SORD_chr15_45315547_+_RAB27A_chr15_55497903_length(transcript)=2348nt_BP=246nt
CTCCACGCTAGCGCCGCCCAGGCTGGCACAAAGGAGGAAGCCTAGTCCCGCCCCTGCGTGCGGCGCTTCTCCCAGGCCCCACCTTCCATC
CAGTGCCCTGGACCCTCGGCTGGGTAGCGCCACCAGAGCGACCAAACGTCCCGCGCCTTCCAGGCCGCACTCCAGAGCCAAAAGAGCTCC
ATGGCGGCGGCGGCCAAGCCCAACAACCTTTCCCTGGTGGTGCACGGACCGGGGGACTTGCGCCTGAATCCCCTACTTTGAAACTAGTGC
TGCCAATGGGACAAACATAAGCCAAGCAATTGAGATGCTTCTGGACCTGATAATGAAGCGAATGGAACGGTGTGTGGACAAGTCCTGGAT
TCCTGAAGGAGTGGTGCGATCAAATGGTCATGCCTCTACGGATCAGTTAAGTGAAGAAAAGGAGAAAGGGGCATGTGGCTGTTGAGAAGT
CAAGTAAGCGACATAGTAGTTCAGGTGGCCCATGCCTGGGATCTTCTCTATGATTGATACATGGCACAGTGAGAGATTAATGGGCATTGT
GTACAAATTGCTTCTCACCATCCCCATTAGACCTACGAATAAAGCATCCGGTTCTAAAATTAATTTGTTGCAGCTTTGTAAATATTTCTT
TAAGATTCAGCCTGAGAGTTAGGAGAAATATTTCAGAGCCAAAAGTGCCTTATACAACCTTAGCCTATTATAGTAAATCATTCAAGGATT
CAGAATTTTGCAGTCACAGAAGAGTGTATTTATTATGTAGAATGAATGAGGGTACTGTCACCTGCCTTAATGTAGGTAGGCCCAGAGTCT
TACATTTAAGATCTTACATGCAGTTATAAAACCGCCACAGTCTTCAATCCAGATTTGAAGACTCATGCCATAGGTGACATTCTAAAATAC
CATTAAAGCCACTTAAATGTTAAATAAGAATATACATGCACATCAGCTCAATGTCTTTGAGTATTAATTTTATGTAAGCATTCTATTTAA
CATGAATATAGGACAAATCATGGCTATATCTATAGACCTTGGATAAACTGGATTGACCAATTATACACTCACGGTGACTTTTTTATTGGT
GGGAAGGGGATTGGGGTGGGGCAGGCTGGCTTAATGTAATATGAGCAACCAAAGTGGGACTTCTGTCTCCCCGCTATATTCCCATTGCTC
TGAATGGTTGATTGAAGGGTCAGGGAACTAGATTTTATGGCTTTAGTTCACTGTGATTGTACATTTATACTTGGCCTATGTGCTGGCCGC
ACCTGAACATAGCTGGTGCTTATGCCGAGTTATTTGCGATGAGTAAATATTTAGTTTCTTTTTCTTCATATTTATAATGTTGATCTGGCA
TCCTCAGGCTGCAGCTTTATTAGCTTATAACTTACTCATCTCTATCTTTACCAGCAGGCTCTGTATTGTTGATATTTGCAACTTGTTTTG
CTTTTCCATTGGTGGAATTGAAATAATTAGTTTTTAATTACATAAGATGCCTGTTTGCTATTTGGTGGAAGATAGATGTTCATATTGAAG
CAGTCACATTTGTACTGTAGTTCAATAAAAGAAAAATGAAGTATTCTGTAGCCTATATTTTTCATAGAGCTCATGAGCATTTACTGTACT
TGCTGGGTCTTGCCAAGATCATTTATTCCGCTGCATTGCCAAAGTGTCTTCATACCAAATTAAAGGTGGTTTTAATATATGTTTCATGGA
AGTTGTTTATAAAATTCAAAGGTATTTCATTTAGGTGAAAAGTCTTATTTATTAAAGTGGTTTGAATAAAGTAGATCAAAACTTCCAGAG
ATCTTAATGGCTATATAGGAAGAAATATCACTCACCATAATTTAAATAAAGAATAAAAATACTTGTATTTTGTGGTGGCAAATGTTTGGT
AGAACTGTAATTAGAAAAATACAAGTATATTTGCGTGATGGTTACACTAGAAGCCCAGACTTTACGACTACACAATATATTCATGTATCT
AAACTGTACTTGTACCCCCTAAATTTATTTTTAAAAAAGGAAAAATAAAAGTATCATGAAAAAACCTATTTTTTTTTCCACTGTCCTTCC
ACTACTCCCATAACAAACTTATCCATGGTTGGTAAAATTTTACATATTTCTATCCTTGAAATGAAGGCTTCTTTTAAATTCCAAAGAAGT
CATGGAGGCCTGTGCATTTGAATTGTATATGCTAGTGAGGAAAAGATTTAGACATTTCAAGAGCAGGGTTGGCCAGGCGCGGTGGCTCAC
ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCA

>In-frame_ENST00000267814_ENST00000336787_TCGA-KL-8341-01A_SORD_chr15_45315547_+_RAB27A_chr15_55497903_length(amino acids)=100AA_start in transcript=536_stop in transcript=838
MCTNCFSPSPLDLRIKHPVLKLICCSFVNISLRFSLRVRRNISEPKVPYTTLAYYSKSFKDSEFCSHRRVYLLCRMNEGTVTCLNVGRPR

--------------------------------------------------------------
>In-frame_ENST00000267814_ENST00000569493_TCGA-KL-8341-01A_SORD_chr15_45315547_+_RAB27A_chr15_55497903_length(transcript)=599nt_BP=246nt
CTCCACGCTAGCGCCGCCCAGGCTGGCACAAAGGAGGAAGCCTAGTCCCGCCCCTGCGTGCGGCGCTTCTCCCAGGCCCCACCTTCCATC
CAGTGCCCTGGACCCTCGGCTGGGTAGCGCCACCAGAGCGACCAAACGTCCCGCGCCTTCCAGGCCGCACTCCAGAGCCAAAAGAGCTCC
ATGGCGGCGGCGGCCAAGCCCAACAACCTTTCCCTGGTGGTGCACGGACCGGGGGACTTGCGCCTGAATCCCCTACTTTGAAACTAGTGC
TGCCAATGGGACAAACATAAGCCAAGCAATTGAGATGCTTCTGGACCTGATAATGAAGCGAATGGAACGGTGTGTGGACAAGTCCTGGAT
TCCTGAAGGAGTGGTGCGATCAAATGGTCATGCCTCTACGGATCAGTTAAGTGAAGAAAAGGAGAAAGGGGCATGTGGCTGTTGAGAAGT
CAAGTAAGCGACATAGTAGTTCAGGTGGCCCATGCCTGGGATCTTCTCTATGATTGATACATGGCACAGTGAGAGATTAATGGGCATTGT

>In-frame_ENST00000267814_ENST00000569493_TCGA-KL-8341-01A_SORD_chr15_45315547_+_RAB27A_chr15_55497903_length(amino acids)=95AA_start in transcript=294_stop in transcript=7
MAYVCPIGSTSFKVGDSGASPPVRAPPGKGCWAWPPPPWSSFGSGVRPGRRGTFGRSGGATQPRVQGTGWKVGPGRSAARRGGTRLPPLC

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

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Fusion Gene PPI Analysis for SORD-RAB27A

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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Related Drugs for SORD-RAB27A

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for SORD-RAB27A

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	SORD	C0019193	Hepatitis, Toxic	1	CTD_human
Hgene	SORD	C0027055	Myocardial Reperfusion Injury	1	CTD_human
Hgene	SORD	C0520459	Necrotizing Enterocolitis	1	CTD_human
Hgene	SORD	C0860207	Drug-Induced Liver Disease	1	CTD_human
Hgene	SORD	C1262760	Hepatitis, Drug-Induced	1	CTD_human
Hgene	SORD	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
Hgene	SORD	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
Hgene	SORD	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
Tgene	RAB27A	C1868679	GRISCELLI SYNDROME, TYPE 2	5	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	RAB27A	C0398794	Hypopigmentation-immunodeficiency disease	1	GENOMICS_ENGLAND
Tgene	RAB27A	C3495588	Acrocephalopolydactylous Dysplasia	1	GENOMICS_ENGLAND