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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:SCNN1G-COL27A1 (FusionGDB2 ID:79716)

Fusion Gene Summary for SCNN1G-COL27A1

check button Fusion gene summary
Fusion gene informationFusion gene name: SCNN1G-COL27A1
Fusion gene ID: 79716
HgeneTgene
Gene symbol

SCNN1G

COL27A1

Gene ID

6340

85301

Gene namesodium channel epithelial 1 subunit gammacollagen type XXVII alpha 1 chain
SynonymsBESC3|ENaCg|ENaCgamma|LDLS2|PHA1|SCNEGSTLS
Cytomap

16p12.2

9q32

Type of geneprotein-codingprotein-coding
Descriptionamiloride-sensitive sodium channel subunit gammaENaC gamma subunitamiloride-sensitive epithelial sodium channel gamma subunitamiloride-sensitive sodium channel gamma-subunitepithelial Na(+) channel subunit gammagamma-ENaCgamma-NaCHnonvoltage-gated collagen alpha-1(XXVII) chaincollagen, type XXVII, alpha 1
Modification date2020031320200313
UniProtAcc.

Q8IZC6

Ensembl transtripts involved in fusion geneENST00000300061, ENST00000477421, 
ENST00000356083, 
Fusion gene scores* DoF score2 X 3 X 2=127 X 8 X 5=280
# samples 28
** MAII scorelog2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SCNN1G [Title/Abstract] AND COL27A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSCNN1G(23208748)-COL27A1(116924995), # samples:2
SCNN1G(23224484)-COL27A1(116924995), # samples:2
Anticipated loss of major functional domain due to fusion event.SCNN1G-COL27A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SCNN1G-COL27A1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
SCNN1G-COL27A1 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSCNN1G

GO:0035725

sodium ion transmembrane transport

24124190

HgeneSCNN1G

GO:0050891

multicellular organismal water homeostasis

24124190

HgeneSCNN1G

GO:0055078

sodium ion homeostasis

24124190


check buttonFusion gene breakpoints across SCNN1G (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across COL27A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4BRCATCGA-A2-A04T-01ASCNN1Gchr16

23208748

+COL27A1chr9

116924995

+
ChimerDB4BRCATCGA-A2-A04T-01ASCNN1Gchr16

23224484

-COL27A1chr9

116924995

+
ChimerDB4BRCATCGA-A2-A04T-01ASCNN1Gchr16

23224484

+COL27A1chr9

116924995

+


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Fusion Gene ORF analysis for SCNN1G-COL27A1

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
5CDS-intronENST00000300061ENST00000477421SCNN1Gchr16

23208748

+COL27A1chr9

116924995

+
5CDS-intronENST00000300061ENST00000477421SCNN1Gchr16

23224484

+COL27A1chr9

116924995

+
Frame-shiftENST00000300061ENST00000356083SCNN1Gchr16

23208748

+COL27A1chr9

116924995

+
In-frameENST00000300061ENST00000356083SCNN1Gchr16

23224484

+COL27A1chr9

116924995

+

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)
ENST00000300061SCNN1Gchr1623224484+ENST00000356083COL27A1chr9116924995+897316367771562359

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
ENST00000300061ENST00000356083SCNN1Gchr1623224484+COL27A1chr9116924995+0.003215520.99678445

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Fusion Genomic Features for SCNN1G-COL27A1


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)
SCNN1Gchr1623224484+COL27A1chr9116924994+0.0002106810.9997893
SCNN1Gchr1623208748+COL27A1chr9116924994+0.0001501350.9998498
SCNN1Gchr1623224484+COL27A1chr9116924994+0.0002106810.9997893
SCNN1Gchr1623208748+COL27A1chr9116924994+0.0001501350.9998498

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for SCNN1G-COL27A1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:23208748/chr9:116924995)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.COL27A1

Q8IZC6

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Plays a role during the calcification of cartilage and the transition of cartilage to bone. {ECO:0000269|PubMed:17693149}.

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
HgeneSCNN1Gchr16:23224484chr9:116924995ENST00000300061+11131_55497650.0Topological domainCytoplasmic
HgeneSCNN1Gchr16:23224484chr9:116924995ENST00000300061+111356_76497650.0TransmembraneHelical%3B Name%3D1
TgeneCOL27A1chr16:23224484chr9:116924995ENST00000356083061283_1621201861.0Compositional biasNote=Pro-rich
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611003_1062201861.0DomainNote=Collagen-like 7
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611066_1125201861.0DomainNote=Collagen-like 8
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611126_1185201861.0DomainNote=Collagen-like 9
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611192_1251201861.0DomainNote=Collagen-like 10
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611258_1317201861.0DomainNote=Collagen-like 11
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611318_1378201861.0DomainNote=Collagen-like 12
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611382_1441201861.0DomainNote=Collagen-like 13
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611442_1501201861.0DomainNote=Collagen-like 14
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611502_1561201861.0DomainNote=Collagen-like 15
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611562_1621201861.0DomainNote=Collagen-like 16
TgeneCOL27A1chr16:23224484chr9:116924995ENST000003560830611660_1860201861.0DomainFibrillar collagen NC1
TgeneCOL27A1chr16:23224484chr9:116924995ENST00000356083061625_679201861.0DomainNote=Collagen-like 1
TgeneCOL27A1chr16:23224484chr9:116924995ENST00000356083061688_747201861.0DomainNote=Collagen-like 2
TgeneCOL27A1chr16:23224484chr9:116924995ENST0000035608306171_236201861.0DomainNote=Laminin G-like
TgeneCOL27A1chr16:23224484chr9:116924995ENST00000356083061748_807201861.0DomainNote=Collagen-like 3
TgeneCOL27A1chr16:23224484chr9:116924995ENST00000356083061808_867201861.0DomainNote=Collagen-like 4
TgeneCOL27A1chr16:23224484chr9:116924995ENST00000356083061871_930201861.0DomainNote=Collagen-like 5
TgeneCOL27A1chr16:23224484chr9:116924995ENST00000356083061931_990201861.0DomainNote=Collagen-like 6
TgeneCOL27A1chr16:23224484chr9:116924995ENST00000356083061625_1618201861.0RegionNote=Triple-helical region

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSCNN1Gchr16:23224484chr9:116924995ENST00000300061+1113563_649497650.0Topological domainCytoplasmic
HgeneSCNN1Gchr16:23224484chr9:116924995ENST00000300061+111377_541497650.0Topological domainExtracellular
HgeneSCNN1Gchr16:23224484chr9:116924995ENST00000300061+1113542_562497650.0TransmembraneHelical%3B Name%3D2


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Fusion Gene Sequence for SCNN1G-COL27A1


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.
>79716_79716_1_SCNN1G-COL27A1_SCNN1G_chr16_23224484_ENST00000300061_COL27A1_chr9_116924995_ENST00000356083_length(transcript)=8973nt_BP=1636nt
CCACAAGAGCCCGCGGTGGCGCTGCCAGGGGATGCTAGCCCGAGAGCGAGCAGAGGAGCAGCGCACCCGCACGAGCCTTGGACCCTTTGG
AACCGAAAGCACGCCCGTCCTCAGAGTCCCGTCCTCAAAGTCCCATCCTCGCCATGGCACCCGGAGAGAAGATCAAAGCCAAAATCAAGA
AGAATCTGCCCGTGACGGGCCCTCAGGCGCCGACCATTAAAGAGCTGATGCGGTGGTACTGCCTCAACACCAACACCCATGGCTGTCGCC
GCATCGTGGTGTCCCGCGGCCGTCTGCGCCGCCTCCTCTGGATCGGGTTCACACTGACTGCCGTGGCCCTCATCCTCTGGCAGTGCGCCC
TCCTCGTCTTCTCCTTCTATACTGTCTCAGTTTCCATCAAAGTCCACTTCCGGAAGCTGGATTTTCCTGCAGTCACCATCTGCAACATCA
ACCCCTACAAGTACAGCACCGTTCGCCACCTTCTAGCTGACTTGGAACAGGAGACCAGAGAGGCCCTGAAGTCCCTGTATGGCTTTCCAG
AGTCCCGGAAGCGCCGAGAGGCGGAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGATTCCGCTGCTGATCT
TTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGGAAAGTCGGCGGTAGCATCATTCACAAGGCTTCAAATG
TCATGCACATCGAGTCCAAGCAAGTGGTGGGATTCCAACTGTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCAGCTCGGGAA
TCAATGCCATTCAGGAGTGGTATAAGCTACACTACATGAACATCATGGCACAGGTGCCTCTGGAGAAGAAAATCAACATGAGCTATTCTG
CTGAGGAGCTGCTGGTGACCTGCTTCTTTGATGGAGTGTCCTGTGATGCCAGGAATTTCACGCTTTTCCACCACCCGATGCATGGGAATT
GCTATACTTTCAACAACAGAGAAAATGAGACCATTCTCAGCACCTCCATGGGGGGCAGCGAATATGGGCTGCAAGTCATTTTGTACATAA
ACGAAGAGGAATACAACCCATTCCTCGTGTCCTCCACTGGAGCTAAGGTGATCATCCATCGGCAGGATGAGTATCCCTTCGTCGAAGATG
TGGGAACAGAGATTGAGACAGCAATGGTCACCTCTATAGGAATGCACCTGACAGAGTCCTTCAAGCTGAGTGAGCCCTACAGTCAGTGCA
CGGAGGACGGGAGTGACGTGCCAATCAGGAACATCTACAACGCTGCCTACTCGCTCCAGATCTGCCTTCATTCATGCTTCCAGACAAAGA
TGGTGGAGAAATGTGGGTGTGCCCAGTACAGCCAGCCTCTACCTCCTGCAGCCAACTACTGCAACTACCAGCAGCACCCCAACTGGATGT
ATTGTTACTACCAACTGCATCGAGCCTTTGTCCAGGAAGAGCTGGGCTGCCAGTCTGTGTGCAAGGAAGCCTGCAGCTTTAAAGAGTGGA
CACTAACCACAAGCCTGGCACAATGGCCATCTGTGGTTTCGGAGAAGTGGTTGCTGCCTGTTCTCACTTGGGACCAAGGCCGGCAAGTAA
ACAAAAAGCTCAACAAGGGGTTTCTCTTCTCCTGGATCTTAGTCTCGTTTGCCTGTCACCTGGCCTCCACCCAAGGAGCTCCTGAAGATG
TGGACATCCTCCAGCGGCTGGGCCTCAGCTGGACGAAGGCCGGGAGCCCTGCACCCCCGGGAGTCATTCCTTTCCAGTCGGGCTTCATCT
TTACGCAGCGGGCCCGGCTCCAGGCTCCCACGGGCACCGTCATTCCTGCCGCCTTGGGCACAGAGCTGGCACTGGTGCTGAGCCTCTGCT
CCCACCGGGTGAACCATGCCTTCCTCTTCGCTGTCCGCAGCCAGAAACGCAAGCTGCAGCTGGGCCTGCAGTTCCTCCCCGGCAAGACGG
TCGTCCACCTCGGGTCCCGGCGCTCAGTGGCCTTCGACCTCGACATGCACGACGGGCGCTGGCACCACCTGGCCCTCGAGCTCCGAGGCC
GCACAGTCACTCTGGTGACTGCCTGCGGGCAGCGCCGGGTGCCTGTCCTGCTGCCTTTCCACAGGGACCCTGCACTCGACCCTGGGGGCT
CCTTCCTCTTTGGGAAGATGAACCCGCATGCAGTCCAGTTTGAAGGTGCTCTCTGCCAGTTCAGTATCTACCCTGTGACGCAGGTCGCTC
ACAATTACTGTACCCACCTGAGGAAGCAGTGTGGACAGGCTGACACGTACCAGTCCCCACTGGGACCTCTCTTCTCCCAAGACTCTGGCA
GACCTTTTACCTTCCAGTCCGACCTCGCCCTGCTAGGCCTGGAGAACTTGACCACTGCCACACCAGCCCTGGGGTCACTGCCAGCAGGCA
GGGGACCCAGGGGGACTGTGGCACCCGCCACGCCCACCAAGCCCCAAAGGACTAGCCCCACAAACCCTCACCAGCATATGGCGGTGGGAG
GCCCAGCCCAAACCCCGCTGCTACCTGCCAAGCTGTCAGCCAGTAACGCACTTGATCCCATGCTCCCAGCCTCTGTTGGCGGCTCTACCA
GAACGCCTCGCCCTGCGGCCGCTCAACCATCACAGAAGATCACAGCCACCAAAATCCCCAAAAGCCTCCCTACCAAGCCTTCGGCCCCTT
CTACTTCAATTGTGCCCATCAAAAGCCCCCATCCTACCCAGAAAACAGCTCCATCTTCATTTACAAAGTCAGCCCTACCCACTCAGAAGC
AAGTGCCACCTACTTCCCGTCCAGTTCCTGCCAGAGTCTCCCGTCCCGCAGAGAAGCCCATCCAGAGGAACCCGGGAATGCCCAGGCCCC
CACCGCCCAGCACCCGGCCCCTACCTCCTACCACCAGCTCCTCTAAAAAACCCATTCCCACACTAGCTCGGACTGAGGCCAAGATAACCA
GCCATGCCAGTAAGCCGGCCTCTGCCCGCACCAGCACCCACAAACCTCCCCCATTTACTGCTTTATCCTCATCTCCTGCCCCTACTCCTG
GTTCTACCAGGAGTACTCGGCCACCAGCCACGATGGTACCTCCAACTTCGGGCACCAGCACTCCCAGAACAGCACCTGCCGTCCCCACTC
CTGGCTCAGCTCCCACTGGAAGCAAGAAGCCCATTGGATCGGAAGCCTCAAAGAAAGCCGGACCCAAGAGCAGCCCCCGGAAGCCTGTCC
CCCTCAGACCTGGGAAGGCAGCCAGGGATGTCCCCTTGAGCGATCTGACAACCAGGCCTAGCCCCAGACAGCCCCAGCCCAGTCAGCAGA
CCACCCCGGCCCTGGTATTGGCCCCGGCGCAATTCCTGTCCTCCAGCCCCCGGCCCACGAGCAGTGGCTATTCGATCTTCCACCTGGCAG
GATCTACGCCTTTCCCTCTGCTGATGGGGCCTCCGGGACCCAAGGGAGACTGTGGCTTGCCGGGTCCCCCTGGGCTACCTGGGCTACCTG
GAATCCCTGGTGCACGTGGGCCTCGGGGTCCTCCTGGGCCTTATGGAAATCCAGGTCTCCCCGGCCCTCCTGGAGCCAAAGGACAGAAAG
GGGACCCAGGGCTCTCACCAGGAAAGGCCCACGATGGGGCAAAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGG
GACGAAAGGGACACAAGGGCTATCCTGGACCGGCAGGGCACCCCGGAGAACAGGGGCAGCCAGGACCTGAGGGCAGCCCAGGGGCCAAAG
GTTACCCTGGCAGGCAGGGGTTACCTGGACCGGTAGGAGATCCCGGCCCCAAAGGCAGCAGGGGCTACATTGGGCTCCCAGGGCTCTTCG
GCCTGCCAGGGTCTGATGGAGAACGAGGCCTGCCTGGCGTTCCTGGCAAGAGGGGCAAGATGGGTATGCCGGGGTTTCCTGGAGTCTTTG
GGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGGTGACTTAG
GAGTGTTGGGTCCGATTGGCTACCCGGGACCCAAGGGCATGAAGGGACTGATGGGCAGCGTGGGGGAGCCCGGACTGAAAGGTGATAAGG
GTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGGGAGCCAGGGGTTGCCAGGGTTCCCCGGTGCACGGG
GGAAGCCAGGGCCTCTGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGGATTCCCAGGAGACATCG
GCCCCCCTGGCGACAATGGCCCAGAAGGCATGAAGGGTAAGCCTGGAGCCCGAGGCCTGCCGGGACCCCGTGGGCAGCTGGGGCCCGAGG
GAGATGAGGGACCCATGGGGCCGCCAGGGGCCCCTGGCTTGGAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATG
GCGTGAAGGGGGAACCAGGGGATCCTGGTCGGCCGGGGCCTGTGGGAGAGCAGGGATTTATGGGATTCATTGGTCTGGTCGGGGAGCCAG
GAATCGTGGGAGAAAAGGGTGATCGTGGCATGATGGGACCCCCAGGCGTGCCTGGACCCAAGGGGTCGATGGGTCATCCTGGAATGCCAG
GTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGG
GCCCCCGAGGACCGGACGGACCAGCTGGGGAGCAAGGGTCCAGGGGCCTGAAGGGCCCTCCAGGACCCCAGGGCAGACCGGGCCGGCCTG
GACAGCAGGGTGTGGCTGGTGAGCGAGGCCACTTGGGCTCGAGAGGCTTTCCTGGCATCCCGGGTCCCTCAGGCCCCCCAGGCACCAAGG
GCCTCCCAGGAGAACCGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGGGCCGCCTGGTGCAGTGG
GAGAACCGGGCCTTCCTGGGGAAGCCGGGATGAAGGGTGACCTTGGACCCCTGGGCACTCCTGGGGAGCAGGGCCTCATTGGGCAACGGG
GAGAGCCAGGCCTTGAGGGTGACAGTGGCCCCATGGGACCTGATGGGCTGAAGGGGGACAGGGGAGACCCAGGGCCTGATGGAGAACATG
GCGAGAAAGGCCAGGAAGGGCTGATGGGTGAGGACGGGCCCCCCGGCCCCCCTGGCGTCACTGGTGTCCGGGGTCCTGAAGGAAAATCAG
GGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGGTGCCAAGGGCTATCAAGGACAGCTGGGTGAGATGGGCGTCCCTGGAGACCCTG
GACCCCCTGGCACTCCAGGCCCTAAAGGGTCCCGGGGCAGCCTGGGACCAACGGGTGCTCCGGGACGCATGGGGGCCCAAGGAGAACCGG
GACTGGCTGGTTATGATGGACACAAAGGCATTGTGGGACCCCTTGGACCTCCTGGACCAAAAGGCGAAAAGGGGGAGCAGGGCGAGGACG
GCAAGGCTGAGGGGCCCCCTGGGCCACCTGGAGATCGGGGCCCTGTGGGTGATCGAGGAGACCGCGGGGAACCGGGAGACCCTGGGTACC
CTGGACAGGAGGGTGTGCAAGGCCTCCGTGGAAAGCCAGGCCAGCAGGGCCAACCCGGGCATCCGGGACCCCGGGGGTGGCCGGGACCCA
AAGGATCGAAAGGCGCAGAGGGACCAAAGGGAAAGCAAGGCAAGGCAGGGGCCCCAGGCCGGAGGGGGGTCCAGGGCCTGCAGGGGCTGC
CAGGGCCCCGGGGCGTGGTGGGGAGACAGGGCCTCGAGGGCATCGCTGGACCAGATGGGCTTCCTGGCAGGGACGGGCAAGCAGGACAGC
AGGGGGAGCAGGGAGACGATGGGGACCCTGGCCCCATGGGCCCTGCTGGGAAGAGAGGAAATCCAGGTGTGGCCGGCTTACCTGGAGCAC
AGGGACCCCCAGGATTCAAGGGTGAGAGTGGGTTACCCGGACAGCTGGGTCCCCCTGGCAAGCGAGGAACAGAGGGCAGAACGGGGCTCC
CTGGAAACCAGGGGGAGCCTGGGTCCAAAGGCCAGCCGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCA
AGGGCCCGCCTGGAGACATTGGCTTCAAAGGCATCCAGGGCCCTCGGGGGCCACCTGGCTTGATGGGAAAGGAAGGCATCGTCGGGCCCC
TCGGAATCCTGGGACCTTCGGGACTCCCGGGTCCGAAGGGTGACAAAGGCAGCCGTGGGGACTGGGGATTGCAAGGTCCGAGGGGTCCTC
CCGGCCCCAGAGGGCGGCCCGGCCCCCCGGGTCCTCCAGGGGGTCCTATCCAATTGCAACAAGATGATCTTGGGGCAGCTTTCCAGACGT
GGATGGACACCAGTGGAGCACTCAGGCCAGAGAGTTACAGCTATCCAGACCGGCTGGTGCTGGACCAGGGAGGAGAGATCTTTAAAACCT
TACACTACCTCAGCAACCTCATCCAGAGCATTAAGACGCCCCTGGGCACCAAAGAGAACCCCGCCCGGGTCTGCAGGGACCTCATGGACT
GTGAGCAGAAGATGGTGGATGGTACCTACTGGGTGGATCCAAACCTTGGCTGCTCCTCTGACACCATCGAGGTCTCCTGCAACTTCACTC
ATGGTGGACAGACGTGTCTCAAGCCCATCACGGCCTCCAAGGTCGAGTTTGCCATCAGCCGGGTCCAGATGAATTTCCTGCACCTGCTAA
GCTCCGAGGTGACCCAGCACATCACCATCCACTGCCTTAACATGACCGTGTGGCAGGAGGGCACTGGGCAGACCCCAGCCAAGCAGGCCG
TACGCTTCCGGGCCTGGAATGGACAGATTTTTGAAGCTGGGGGTCAGTTCCGGCCCGAGGTGTCCATGGATGGCTGCAAGGTCCAAGATG
GCCGCTGGCATCAGACACTCTTCACCTTCCGGACCCAAGACCCCCAACAGCTGCCCATCATCAGTGTGGACAACCTCCCTCCTGCCTCAT
CAGGGAAGCAGTACCGCCTGGAAGTTGGACCTGCGTGCTTCCTCTGACCTCTGACCTCGTGGCCACTCTAGGCCTCACGGAGGAGGGAAG
AGGAAGAGGCAAGGGGAGGGTACTGAGGGGCAGATGGCTCCAGGAGAGGCAGCTCCCCTGCCCAAGGGTCCTTGGGCAGACCCCAGCTGT
TGTCTGCCCAGTAGAAGTGGGTGGGGGTAGGAGGGGATAGGGTGTCCTTGGGAACAATGGATCCCAGCTTAGCCCCAAAGACCAACCAAA
GAGCCAGCCAGAGTAAGCTGGACCTGCAACCTGCCTGAGCCCCGTGGCCTCTCAGCTCTGCGGCCACCCCGTTCCCTCCCCAGCTTCCTG
CCCAAAGAGCCCCACATTCAAGCCAACTTGAGGGAAGGGGGCGTCTCGTCAGCTGGTCCCTGCTAGGGAGCTATTGATGTGCAATATTAG
AAAGGAGACATGAAAAAAGGAGAAAAGGAAAGACAGAAGTGTATATATATATTATTTAAACAAACAAAAAGAAGGTGCGTTACTATTTTT
TTTTCACCCGGGAAAGAGGTGAGAGGATGGGAAGGAGCAGCCAGGCGTGGGAAGCGGCGAGATCCTCGGGCTGGGGGTGCCCACGTTTGC
TACCTCCCACTGTGAAATCGCTGGTGCTCACAATTGTCTCTCACAGTGTATGTGATTTTTTTAAGGAAAAAAAAAAATCCCTATTTAAGA
TTCTGAAGGTGCTACCATTATTTTGCCACAGACTTTGAAGAAACTTTTGGATGTGGGGCATCATCCGCATCTTTCTCTCTCCTCCAAATG
ACAAAGTTTGGGGAATTTTTGAATTTTCCTAGCATCGCCCTTGTGCTCATCAGGTAATCTGCTAAGGAGGAAAAAAGAAAAGAAAAAAGG
AAAAAAAAAAAAAAAAAGCAAAACAAAAACAAAAACAAAAACCCTACCAGAAACCAGAAGTAGAGAGATTTACCATATAACTTATGGACT
TTGAAATGTCTGTCCTTTTAAGGCAGCAGGGAGGCCTGGGTGCGAAGCATGTTGGCTTGGCCCTTCACGGTCCTGGAGGGAGGTGAGGCT
GGCCTTGGAAGGCGTGCCCTGGAGAGGTCTTGGGTGAAAACTTGACCTTGAAGAAACCAATCACAAAAGCGGCGTTGGGTCAGGGCTAGG
CTTAGAGGTGAAGCATCAACATGGAACCATCTCAGGAAGCCGCATCGCCTCTTCCGAGGTCCTCACTTCCAGGAGCCTGTCCTTGCAAGA
TGCAATCATCGTTCCTGCTTTTTCATTGTCATTAAATTCTGTAGAAACCCATTGTCATTAGCTCCAAGTGTAAATTTGGGTCAAGGAGAC
AGAATAATAATGGGAATCTCGGAGTTCGACACCATAGTGACGTTCAGCGTCCTCTGAATTGTGCTACATCAGCGAACAAGTCGGCGCTTG
AATTGGATTTTGAGGTTATTTTAACCATGGAATTATTTTTATAGAAGGGGAAAATGTATGTGAAAGTCTCTATTTGTGTATTTCTCTCCT
AAAGTTGTGTCTCTTTGGGAATTGGATTTGATTTTTATTATTTAATACCTCACTTTGGCCCGTCCCCCCTCCCAACACTTCTGTATCCTC
GCCCTGCCGCCCCAGCCTGGACGCTCTGCGTGGAAGTGCGTGTTTGTAGCAGCTCGGGCCTCATCTCAGCGCTCGGATCCCTCCTGCTGC
CAGAATCCACTGGCCTCTGTCTCATTCTTGGGTTTTCCTGCTGTCTTCGTTTACGTCTCTGTCCACATGTCAGTGTATTAAAACCCCAAT

>79716_79716_1_SCNN1G-COL27A1_SCNN1G_chr16_23224484_ENST00000300061_COL27A1_chr9_116924995_ENST00000356083_length(amino acids)=2359AA_BP=1134
MDPLEPKARPSSESRPQSPILAMAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFTLTAVALIL
WQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQETREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRI
PLLIFDQDEKGKARDFFTGRKRKVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQVPLEKKIN
MSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMGGSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYP
FVEDVGTEIETAMVTSIGMHLTESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQTKMVEKCGCAQYSQPLPPAANYCNYQQH
PNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWLLPVLTWDQGRQVNKKLNKGFLFSWILVSFACHLASTQG
APEDVDILQRLGLSWTKAGSPAPPGVIPFQSGFIFTQRARLQAPTGTVIPAALGTELALVLSLCSHRVNHAFLFAVRSQKRKLQLGLQFL
PGKTVVHLGSRRSVAFDLDMHDGRWHHLALELRGRTVTLVTACGQRRVPVLLPFHRDPALDPGGSFLFGKMNPHAVQFEGALCQFSIYPV
TQVAHNYCTHLRKQCGQADTYQSPLGPLFSQDSGRPFTFQSDLALLGLENLTTATPALGSLPAGRGPRGTVAPATPTKPQRTSPTNPHQH
MAVGGPAQTPLLPAKLSASNALDPMLPASVGGSTRTPRPAAAQPSQKITATKIPKSLPTKPSAPSTSIVPIKSPHPTQKTAPSSFTKSAL
PTQKQVPPTSRPVPARVSRPAEKPIQRNPGMPRPPPPSTRPLPPTTSSSKKPIPTLARTEAKITSHASKPASARTSTHKPPPFTALSSSP
APTPGSTRSTRPPATMVPPTSGTSTPRTAPAVPTPGSAPTGSKKPIGSEASKKAGPKSSPRKPVPLRPGKAARDVPLSDLTTRPSPRQPQ
PSQQTTPALVLAPAQFLSSSPRPTSSGYSIFHLAGSTPFPLLMGPPGPKGDCGLPGPPGLPGLPGIPGARGPRGPPGPYGNPGLPGPPGA
KGQKGDPGLSPGKAHDGAKGDMGLPGLSGNPGPPGRKGHKGYPGPAGHPGEQGQPGPEGSPGAKGYPGRQGLPGPVGDPGPKGSRGYIGL
PGLFGLPGSDGERGLPGVPGKRGKMGMPGFPGVFGERGPPGLDGNPGELGLPGPPGVPGLIGDLGVLGPIGYPGPKGMKGLMGSVGEPGL
KGDKGEQGVPGVSGDPGFQGDKGSQGLPGFPGARGKPGPLGKVGDKGSIGFPGPPGPEGFPGDIGPPGDNGPEGMKGKPGARGLPGPRGQ
LGPEGDEGPMGPPGAPGLEGQPGRKGFPGRPGLDGVKGEPGDPGRPGPVGEQGFMGFIGLVGEPGIVGEKGDRGMMGPPGVPGPKGSMGH
PGMPGGMGTPGEPGPQGPPGSRGPPGMRGAKGRRGPRGPDGPAGEQGSRGLKGPPGPQGRPGRPGQQGVAGERGHLGSRGFPGIPGPSGP
PGTKGLPGEPGPQGPQGPIGPPGEMGPKGPPGAVGEPGLPGEAGMKGDLGPLGTPGEQGLIGQRGEPGLEGDSGPMGPDGLKGDRGDPGP
DGEHGEKGQEGLMGEDGPPGPPGVTGVRGPEGKSGKQGEKGRTGAKGAKGYQGQLGEMGVPGDPGPPGTPGPKGSRGSLGPTGAPGRMGA
QGEPGLAGYDGHKGIVGPLGPPGPKGEKGEQGEDGKAEGPPGPPGDRGPVGDRGDRGEPGDPGYPGQEGVQGLRGKPGQQGQPGHPGPRG
WPGPKGSKGAEGPKGKQGKAGAPGRRGVQGLQGLPGPRGVVGRQGLEGIAGPDGLPGRDGQAGQQGEQGDDGDPGPMGPAGKRGNPGVAG
LPGAQGPPGFKGESGLPGQLGPPGKRGTEGRTGLPGNQGEPGSKGQPGDSGEMGFPGMAGLFGPKGPPGDIGFKGIQGPRGPPGLMGKEG
IVGPLGILGPSGLPGPKGDKGSRGDWGLQGPRGPPGPRGRPGPPGPPGGPIQLQQDDLGAAFQTWMDTSGALRPESYSYPDRLVLDQGGE
IFKTLHYLSNLIQSIKTPLGTKENPARVCRDLMDCEQKMVDGTYWVDPNLGCSSDTIEVSCNFTHGGQTCLKPITASKVEFAISRVQMNF
LHLLSSEVTQHITIHCLNMTVWQEGTGQTPAKQAVRFRAWNGQIFEAGGQFRPEVSMDGCKVQDGRWHQTLFTFRTQDPQQLPIISVDNL

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Fusion Gene PPI Analysis for SCNN1G-COL27A1


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 SCNN1G-COL27A1


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 SCNN1G-COL27A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource