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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:STEAP2-COL6A2 (FusionGDB2 ID:86761)

Fusion Gene Summary for STEAP2-COL6A2

check button Fusion gene summary
Fusion gene informationFusion gene name: STEAP2-COL6A2
Fusion gene ID: 86761
HgeneTgene
Gene symbol

STEAP2

COL6A2

Gene ID

261729

1292

Gene nameSTEAP2 metalloreductasecollagen type VI alpha 2 chain
SynonymsIPCA1|PCANAP1|PUMPCn|STAMP1|STMPBTHLM1|PP3610|UCMD1
Cytomap

7q21.13

21q22.3

Type of geneprotein-codingprotein-coding
Descriptionmetalloreductase STEAP2STEAP family member 2, metalloreductaseSixTransMembrane Protein of Prostate 1prostate cancer-associated protein 1protein up-regulated in metastatic prostate cancerprotein upregulated in metastatic prostate cancersix transmembrcollagen alpha-2(VI) chaincollagen VI, alpha-2 polypeptidecollagen, type VI, alpha 2epididymis secretory sperm binding proteinhuman mRNA for collagen VI alpha-2 C-terminal globular domain
Modification date2020031320200328
UniProtAcc.

P12110

Ensembl transtripts involved in fusion geneENST00000287908, ENST00000394626, 
ENST00000394622, ENST00000394632, 
ENST00000394621, ENST00000402625, 
ENST00000394629, 		ENST00000300527, 
ENST00000310645, ENST00000357838, 
ENST00000409416, ENST00000397763, 
ENST00000460886, 
Fusion gene scores* DoF score8 X 8 X 2=12812 X 11 X 7=924
# samples 813
** MAII scorelog2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/924*10)=-2.8293812283876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: STEAP2 [Title/Abstract] AND COL6A2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSTEAP2(89865111)-COL6A2(47545844), # 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
HgeneSTEAP2

GO:0006893

Golgi to plasma membrane transport

12095985

HgeneSTEAP2

GO:0006897

endocytosis

12095985

HgeneSTEAP2

GO:0009725

response to hormone

12095985

HgeneSTEAP2

GO:0045055

regulated exocytosis

12095985


check buttonFusion gene breakpoints across STEAP2 (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 COL6A2 (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
ChiTaRS5.0N/ADA568273STEAP2chr7

89865111

+COL6A2chr21

47545844

+


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Fusion Gene ORF analysis for STEAP2-COL6A2

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
3UTR-3CDSENST00000287908ENST00000300527STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-3CDSENST00000287908ENST00000310645STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-3CDSENST00000287908ENST00000357838STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-3CDSENST00000287908ENST00000409416STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-3CDSENST00000287908ENST00000397763STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-intronENST00000287908ENST00000460886STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394626ENST00000300527STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394626ENST00000310645STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394626ENST00000357838STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394626ENST00000409416STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394626ENST00000397763STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-intronENST00000394626ENST00000460886STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-3CDSENST00000394622ENST00000300527STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-3CDSENST00000394622ENST00000310645STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-3CDSENST00000394622ENST00000357838STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-3CDSENST00000394622ENST00000409416STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-3CDSENST00000394622ENST00000397763STEAP2chr7

89865111

+COL6A2chr21

47545844

+
3UTR-intronENST00000394622ENST00000460886STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394632ENST00000300527STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394632ENST00000310645STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394632ENST00000357838STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394632ENST00000409416STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394632ENST00000397763STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-intronENST00000394632ENST00000460886STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394621ENST00000300527STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394621ENST00000310645STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394621ENST00000357838STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394621ENST00000409416STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394621ENST00000397763STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-intronENST00000394621ENST00000460886STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000402625ENST00000300527STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000402625ENST00000310645STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000402625ENST00000357838STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000402625ENST00000409416STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000402625ENST00000397763STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-intronENST00000402625ENST00000460886STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394629ENST00000300527STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394629ENST00000310645STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394629ENST00000357838STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394629ENST00000409416STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-3CDSENST00000394629ENST00000397763STEAP2chr7

89865111

+COL6A2chr21

47545844

+
intron-intronENST00000394629ENST00000460886STEAP2chr7

89865111

+COL6A2chr21

47545844

+

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)

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

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Fusion Genomic Features for STEAP2-COL6A2


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)

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 STEAP2-COL6A2


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.COL6A2

P12110

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: Collagen VI acts as a cell-binding protein.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for STEAP2-COL6A2


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.

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Fusion Gene PPI Analysis for STEAP2-COL6A2


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 STEAP2-COL6A2


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 STEAP2-COL6A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL6A2C0410179Ullrich congenital muscular dystrophy 15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOL6A2C1834674BETHLEM MYOPATHY 15CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneCOL6A2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOL6A2C0029408Degenerative polyarthritis1CTD_human
TgeneCOL6A2C0086743Osteoarthrosis Deformans1CTD_human
TgeneCOL6A2C1611706Myosclerosis1ORPHANET
TgeneCOL6A2C1850671Myosclerosis, Autosomal Recessive1CTD_human;GENOMICS_ENGLAND