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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:ACTN1-SCGN (FusionGDB2 ID:HG87TG10590)

Fusion Gene Summary for ACTN1-SCGN

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTN1-SCGN
Fusion gene ID: hg87tg10590
HgeneTgene
Gene symbol

ACTN1

SCGN

Gene ID

87

10590

Gene nameactinin alpha 1secretagogin, EF-hand calcium binding protein
SynonymsBDPLT15CALBL|DJ501N12.8|SECRET|SEGN|setagin
Cytomap('ACTN1')('SCGN')

14q24.1|14q22-q24

6p22.2

Type of geneprotein-codingprotein-coding
Descriptionalpha-actinin-1F-actin cross-linking proteinactinin 1 smooth musclealpha-actinin cytoskeletal isoformepididymis secretory sperm binding proteinnon-muscle alpha-actinin-1secretagogin
Modification date2020032720200315
UniProtAcc

P12814

.
Ensembl transtripts involved in fusion geneENST00000193403, ENST00000376839, 
ENST00000394419, ENST00000438964, 
ENST00000538545, ENST00000554508, 
Fusion gene scores* DoF score14 X 14 X 4=7843 X 3 X 3=27
# samples 173
** MAII scorelog2(17/784*10)=-2.20531890797751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACTN1 [Title/Abstract] AND SCGN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTN1(69343799)-SCGN(25691284), # samples:3
Anticipated loss of major functional domain due to fusion event.ACTN1-SCGN 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.
ACTN1-SCGN 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.
ACTN1-SCGN 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.
ACTN1-SCGN 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.
* 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

check buttonFusion gene breakpoints across ACTN1 (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 SCGN (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
* 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-BH-A0DQ-01AACTN1chr14

69343799

-SCGNchr6

25691284

+


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Fusion Gene ORF analysis for ACTN1-SCGN

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-3UTRENST00000193403ENST00000334979ACTN1chr14

69343799

-SCGNchr6

25691284

+
5CDS-3UTRENST00000376839ENST00000334979ACTN1chr14

69343799

-SCGNchr6

25691284

+
5CDS-3UTRENST00000394419ENST00000334979ACTN1chr14

69343799

-SCGNchr6

25691284

+
5CDS-3UTRENST00000438964ENST00000334979ACTN1chr14

69343799

-SCGNchr6

25691284

+
5CDS-3UTRENST00000538545ENST00000334979ACTN1chr14

69343799

-SCGNchr6

25691284

+
In-frameENST00000193403ENST00000377961ACTN1chr14

69343799

-SCGNchr6

25691284

+
In-frameENST00000376839ENST00000377961ACTN1chr14

69343799

-SCGNchr6

25691284

+
In-frameENST00000394419ENST00000377961ACTN1chr14

69343799

-SCGNchr6

25691284

+
In-frameENST00000438964ENST00000377961ACTN1chr14

69343799

-SCGNchr6

25691284

+
In-frameENST00000538545ENST00000377961ACTN1chr14

69343799

-SCGNchr6

25691284

+
intron-3CDSENST00000554508ENST00000377961ACTN1chr14

69343799

-SCGNchr6

25691284

+
intron-3UTRENST00000554508ENST00000334979ACTN1chr14

69343799

-SCGNchr6

25691284

+

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)
ENST00000193403ACTN1chr1469343799-ENST00000377961SCGNchr625691284+355029043843101905
ENST00000394419ACTN1chr1469343799-ENST00000377961SCGNchr625691284+341527691832966927
ENST00000438964ACTN1chr1469343799-ENST00000377961SCGNchr625691284+335727112062908900
ENST00000376839ACTN1chr1469343799-ENST00000377961SCGNchr625691284+323525892702786838
ENST00000538545ACTN1chr1469343799-ENST00000377961SCGNchr625691284+31712525202722900

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
ENST00000193403ENST00000377961ACTN1chr1469343799-SCGNchr625691284+0.0112383240.9887617
ENST00000394419ENST00000377961ACTN1chr1469343799-SCGNchr625691284+0.0088953530.99110466
ENST00000438964ENST00000377961ACTN1chr1469343799-SCGNchr625691284+0.0093936020.9906064
ENST00000376839ENST00000377961ACTN1chr1469343799-SCGNchr625691284+0.0033417380.9966582
ENST00000538545ENST00000377961ACTN1chr1469343799-SCGNchr625691284+0.0082310910.99176896

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Fusion Genomic Features for ACTN1-SCGN


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)
ACTN1chr1469343798-SCGNchr625691283+9.88E-070.99999905
ACTN1chr1469343798-SCGNchr625691283+9.88E-070.99999905

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 ACTN1-SCGN


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/chr14:69343799/chr6:25691284)
- 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
ACTN1

P12814

.
FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.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}.

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
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-2021759_770840893.0Calcium bindingOntology_term=ECO:0000255
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-2021800_811840893.0Calcium bindingOntology_term=ECO:0000255
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-2122759_770862915.0Calcium bindingOntology_term=ECO:0000255
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-2122800_811862915.0Calcium bindingOntology_term=ECO:0000255
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-2021759_770835888.0Calcium bindingOntology_term=ECO:0000255
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-2021800_811835888.0Calcium bindingOntology_term=ECO:0000255
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-2021759_770835931.0Calcium bindingOntology_term=ECO:0000255
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-2021800_811835931.0Calcium bindingOntology_term=ECO:0000255
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-2021144_250840893.0DomainCalponin-homology (CH) 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-202131_135840893.0DomainCalponin-homology (CH) 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-2021746_781840893.0DomainEF-hand 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-2021787_822840893.0DomainEF-hand 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-2122144_250862915.0DomainCalponin-homology (CH) 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-212231_135862915.0DomainCalponin-homology (CH) 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-2122746_781862915.0DomainEF-hand 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-2122787_822862915.0DomainEF-hand 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-2021144_250835888.0DomainCalponin-homology (CH) 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-202131_135835888.0DomainCalponin-homology (CH) 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-2021746_781835888.0DomainEF-hand 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-2021787_822835888.0DomainEF-hand 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-2021144_250835931.0DomainCalponin-homology (CH) 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-202131_135835931.0DomainCalponin-homology (CH) 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-2021746_781835931.0DomainEF-hand 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-2021787_822835931.0DomainEF-hand 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-20211_247840893.0RegionNote=Actin-binding
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-21221_247862915.0RegionNote=Actin-binding
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-20211_247835888.0RegionNote=Actin-binding
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-20211_247835931.0RegionNote=Actin-binding
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-2021274_384840893.0RepeatNote=Spectrin 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-2021394_499840893.0RepeatNote=Spectrin 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-2021509_620840893.0RepeatNote=Spectrin 3
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-2021630_733840893.0RepeatNote=Spectrin 4
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-2122274_384862915.0RepeatNote=Spectrin 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-2122394_499862915.0RepeatNote=Spectrin 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-2122509_620862915.0RepeatNote=Spectrin 3
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-2122630_733862915.0RepeatNote=Spectrin 4
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-2021274_384835888.0RepeatNote=Spectrin 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-2021394_499835888.0RepeatNote=Spectrin 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-2021509_620835888.0RepeatNote=Spectrin 3
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-2021630_733835888.0RepeatNote=Spectrin 4
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-2021274_384835931.0RepeatNote=Spectrin 1
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-2021394_499835931.0RepeatNote=Spectrin 2
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-2021509_620835931.0RepeatNote=Spectrin 3
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-2021630_733835931.0RepeatNote=Spectrin 4
TgeneSCGNchr14:69343799chr6:25691284ENST00000377961811210_221211277.0Calcium binding5
TgeneSCGNchr14:69343799chr6:25691284ENST00000377961811254_265211277.0Calcium binding6
TgeneSCGNchr14:69343799chr6:25691284ENST00000377961811240_276211277.0DomainEF-hand 6

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSCGNchr14:69343799chr6:25691284ENST00000377961811118_129211277.0Calcium binding3
TgeneSCGNchr14:69343799chr6:25691284ENST00000377961811162_173211277.0Calcium binding4
TgeneSCGNchr14:69343799chr6:25691284ENST0000037796181125_36211277.0Calcium binding1
TgeneSCGNchr14:69343799chr6:25691284ENST0000037796181171_82211277.0Calcium binding2
TgeneSCGNchr14:69343799chr6:25691284ENST00000377961811105_140211277.0DomainEF-hand 3
TgeneSCGNchr14:69343799chr6:25691284ENST0000037796181112_47211277.0DomainEF-hand 1
TgeneSCGNchr14:69343799chr6:25691284ENST00000377961811149_184211277.0DomainEF-hand 4
TgeneSCGNchr14:69343799chr6:25691284ENST00000377961811197_232211277.0DomainEF-hand 5
TgeneSCGNchr14:69343799chr6:25691284ENST0000037796181158_93211277.0DomainEF-hand 2


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Fusion Gene Sequence for ACTN1-SCGN


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.
>1750_1750_1_ACTN1-SCGN_ACTN1_chr14_69343799_ENST00000193403_SCGN_chr6_25691284_ENST00000377961_length(transcript)=3550nt_BP=2904nt
AGGAATTCCCAATGAGAGGCGATGGGGGGAAGTTTGGGCAACTCGGCCTGGCCAATGGAGAGCCTCGGGAGGGCTCTGCCCCTTCCCCCC
GCCCCCGCCCGCCTCGGCTCCCGCAGCGCTAGTGTGTCCGCCTAGTTCAGTGTGCGTGGAGATTAGGTCCAAGCGCCCGCCCAGAGGCAG
GCAGTCCGCGAGCCCAGCCGCCGCTGTCGCCGCCAGTAGCAGCCTTCGCCAGCAGCGCCGCGGCGGAACCGGGCGCAGGGGAGCGAGCCC
GGCCCCGCCAGCCCAGCCCAGCCCAGCCCTACTCCCTCCCCACGCCAGGGCAGCAGCCGTTGCTCAGAGAGAAGGTGGAGGAAGAAATCC
AGACCCTAGCACGCGCGCACCATCATGGACCATTATGATTCTCAGCAAACCAACGATTACATGCAGCCAGAAGAGGACTGGGACCGGGAC
CTGCTCCTGGACCCGGCCTGGGAGAAGCAGCAGAGAAAGACATTCACGGCATGGTGTAACTCCCACCTCCGGAAGGCGGGGACACAGATC
GAGAACATCGAAGAGGACTTCCGGGATGGCCTGAAGCTCATGCTGCTGCTGGAGGTCATCTCAGGTGAACGCTTGGCCAAGCCAGAGCGA
GGCAAGATGAGAGTGCACAAGATCTCCAACGTCAACAAGGCCCTGGATTTCATAGCCAGCAAAGGCGTCAAACTGGTGTCCATCGGAGCC
GAAGAAATCGTGGATGGGAATGTGAAGATGACCCTGGGCATGATCTGGACCATCATCCTGCGCTTTGCCATCCAGGACATCTCCGTGGAA
GAGACTTCAGCCAAGGAAGGGCTGCTCCTGTGGTGTCAGAGAAAGACAGCCCCTTACAAAAATGTCAACATCCAGAACTTCCACATAAGC
TGGAAGGATGGCCTCGGCTTCTGTGCTTTGATCCACCGACACCGGCCCGAGCTGATTGACTACGGGAAGCTGCGGAAGGATGATCCACTC
ACAAATCTGAATACGGCTTTTGACGTGGCAGAGAAGTACCTGGACATCCCCAAGATGCTGGATGCCGAAGACATCGTTGGAACTGCCCGA
CCGGATGAGAAAGCCATCATGACTTACGTGTCTAGCTTCTACCACGCCTTCTCTGGAGCCCAGAAGGCGGAGACAGCAGCCAATCGCATC
TGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATCTGTTGGAGTGGATCCGCCGC
ACAATCCCGTGGCTGGAGAACCGGGTGCCCGAGAACACCATGCATGCCATGCAACAGAAGCTGGAGGACTTCCGGGACTACCGGCGCCTG
CACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGGCTCAGCAACCGGCCTGCC
TTCATGCCCTCTGAGGGCAGGATGGTCTCGGACATCAACAATGCCTGGGGCTGCCTGGAGCAGGTGGAGAAGGGCTATGAGGAGTGGTTG
CTGAATGAGATCCGGAGGCTGGAGCGACTGGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGGCCTGGACTGACGGC
AAAGAGGCCATGCTGCGACAGAAGGACTATGAGACCGCCACCCTCTCGGAGATCAAGGCCCTGCTCAAGAAGCATGAGGCCTTCGAGAGT
GACCTGGCTGCCCACCAGGACCGTGTGGAGCAGATTGCCGCCATCGCACAGGAGCTCAATGAGCTGGACTATTATGACTCACCCAGTGTC
AACGCCCGTTGCCAAAAGATCTGTGACCAGTGGGACAATCTGGGGGCCCTAACTCAGAAGCGAAGGGAAGCTCTGGAGCGGACCGAGAAA
CTGCTGGAGACCATTGACCAGCTGTACTTGGAGTATGCCAAGCGGGCTGCACCCTTCAACAACTGGATGGAGGGGGCCATGGAGGACCTG
CAGGACACCTTCATTGTGCACACCATTGAGGAGATCCAGGGACTGACCACAGCCCATGAGCAGTTCAAGGCCACCCTCCCTGATGCCGAC
AAGGAGCGCCTGGCCATCCTGGGCATCCACAATGAGGTGTCCAAGATTGTCCAGACCTACCACGTCAATATGGCGGGCACCAACCCCTAC
ACAACCATCACGCCTCAGGAGATCAATGGCAAATGGGACCACGTGCGGCAGCTGGTGCCTCGGAGGGACCAAGCTCTGACGGAGGAGCAT
GCCCGACAGCAGCACAATGAGAGGCTACGCAAGCAGTTTGGAGCCCAGGCCAATGTCATCGGGCCCTGGATCCAGACCAAGATGGAGGAG
ATCGGGAGGATCTCCATTGAGATGCATGGGACCCTGGAGGACCAGCTCAGCCACCTGCGGCAGTATGAGAAGAGCATCGTCAACTACAAG
CCAAAGATTGATCAGCTGGAGGGCGACCACCAGCTCATCCAGGAGGCGCTCATCTTCGACAACAAGCACACCAACTACACCATGGAGCAC
ATCCGTGTGGGCTGGGAGCAGCTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGC
ATCAGCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGGGATCACTCCGGCACACTGGGTCCCGAGGAGTTCAAA
GCCTGCCTCATCAGCTTGGGTTATGATATTGGCAACGACCCCCAGGGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAAC
CGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCC
TTCAAGATCCTGGCTGGGGACAAGAGTAAAACAGGAGCCCTGGAAGGCCCAGAAGTGGATGGGTTTGTCAAAGACATGATGGAGCTTGTC
CAGCCCAGCATCAGCGGGGTGGACCTTGATAAGTTCCGCGAGATTCTCCTGCGTCACTGCGACGTGAACAAGGATGGAAAAATTCAGAAG
TCTGAGCTGGCTTTGTGTCTTGGGCTGAAAATCAACCCATAATCCCAGACTGCTTTGCCTTTTGCTCTTACTATGTTTCTGTGATCTTGC
TGGTAGAATTGTATCTGTGCATTGATGTTGGGAACACAGTGGGCAAACTCACAAATGGTGTGCTATTCTTGGGCAAGAACAGGGACGCTA
GGGCCTTCCTTCCACCGGCGTGATCTATCCCTGTCTCACTGAAAGCCCCTGTGTAGTGTCTGTGTTGTTTTCCCTTGACCCTGGGCTTTC
CTATCCTCCCAAAGACTCAGCTCCCCTGTTAGATGGCTCTGCCTGTCCTTCCCCAGTCACCAGGGTGGGGGGGACAGGGGCAGCTGAGTG
CATTCATTTTGTGCTTTTCTTGTGGGCTTTCTGCTTAGTCTGAAAGGTGTGTGGCATTCATGGCAATCCTGTAACTTCAACATAGATTTT

>1750_1750_1_ACTN1-SCGN_ACTN1_chr14_69343799_ENST00000193403_SCGN_chr6_25691284_ENST00000377961_length(amino acids)=905AA_BP=840
MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKI
SNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFC
ALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQ
ENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRM
VSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDR
VEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHT
IEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNER
LRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQL
LTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQGEAEFARIMSIVDPNRLGVVTFQ
AFIDFMSRETADTDTADQVMASFKILAGDKSKTGALEGPEVDGFVKDMMELVQPSISGVDLDKFREILLRHCDVNKDGKIQKSELALCLG

--------------------------------------------------------------
>1750_1750_2_ACTN1-SCGN_ACTN1_chr14_69343799_ENST00000376839_SCGN_chr6_25691284_ENST00000377961_length(transcript)=3235nt_BP=2589nt
AAAACACACACAATGGGCTTCCTCAAAGCAGGATGACCTGGGCCGCGGTGCCCAAGGCCTATGCAGGGCTGGGCCCTATACAGCGACATC
GGTCATCTACATCGGACATGGGAAGGTCCCCTGACTTCGAACTGACTTCTTTGTAATGTGCCAGTTGCTTAAACTCCCCCTCTTCCTGTC
ATCTTCCTAACATTCACGGCATGGTGTAACTCCCACCTCCGGAAGGCGGGGACACAGATCGAGAACATCGAAGAGGACTTCCGGGATGGC
CTGAAGCTCATGCTGCTGCTGGAGGTCATCTCAGGTGAACGCTTGGCCAAGCCAGAGCGAGGCAAGATGAGAGTGCACAAGATCTCCAAC
GTCAACAAGGCCCTGGATTTCATAGCCAGCAAAGGCGTCAAACTGGTGTCCATCGGAGCCGAAGAAATCGTGGATGGGAATGTGAAGATG
ACCCTGGGCATGATCTGGACCATCATCCTGCGCTTTGCCATCCAGGACATCTCCGTGGAAGAGACTTCAGCCAAGGAAGGGCTGCTCCTG
TGGTGTCAGAGAAAGACAGCCCCTTACAAAAATGTCAACATCCAGAACTTCCACATAAGCTGGAAGGATGGCCTCGGCTTCTGTGCTTTG
ATCCACCGACACCGGCCCGAGCTGATTGACTACGGGAAGCTGCGGAAGGATGATCCACTCACAAATCTGAATACGGCTTTTGACGTGGCA
GAGAAGTACCTGGACATCCCCAAGATGCTGGATGCCGAAGACATCGTTGGAACTGCCCGACCGGATGAGAAAGCCATCATGACTTACGTG
TCTAGCTTCTACCACGCCTTCTCTGGAGCCCAGAAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAAC
GAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATCTGTTGGAGTGGATCCGCCGCACAATCCCGTGGCTGGAGAACCGGGTGCCC
GAGAACACCATGCATGCCATGCAACAGAAGCTGGAGGACTTCCGGGACTACCGGCGCCTGCACAAGCCGCCCAAGGTGCAGGAGAAGTGC
CAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGGCTCAGCAACCGGCCTGCCTTCATGCCCTCTGAGGGCAGGATGGTCTCG
GACATCAACAATGCCTGGGGCTGCCTGGAGCAGGTGGAGAAGGGCTATGAGGAGTGGTTGCTGAATGAGATCCGGAGGCTGGAGCGACTG
GACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGGCCTGGACTGACGGCAAAGAGGCCATGCTGCGACAGAAGGACTAT
GAGACCGCCACCCTCTCGGAGATCAAGGCCCTGCTCAAGAAGCATGAGGCCTTCGAGAGTGACCTGGCTGCCCACCAGGACCGTGTGGAG
CAGATTGCCGCCATCGCACAGGAGCTCAATGAGCTGGACTATTATGACTCACCCAGTGTCAACGCCCGTTGCCAAAAGATCTGTGACCAG
TGGGACAATCTGGGGGCCCTAACTCAGAAGCGAAGGGAAGCTCTGGAGCGGACCGAGAAACTGCTGGAGACCATTGACCAGCTGTACTTG
GAGTATGCCAAGCGGGCTGCACCCTTCAACAACTGGATGGAGGGGGCCATGGAGGACCTGCAGGACACCTTCATTGTGCACACCATTGAG
GAGATCCAGGGACTGACCACAGCCCATGAGCAGTTCAAGGCCACCCTCCCTGATGCCGACAAGGAGCGCCTGGCCATCCTGGGCATCCAC
AATGAGGTGTCCAAGATTGTCCAGACCTACCACGTCAATATGGCGGGCACCAACCCCTACACAACCATCACGCCTCAGGAGATCAATGGC
AAATGGGACCACGTGCGGCAGCTGGTGCCTCGGAGGGACCAAGCTCTGACGGAGGAGCATGCCCGACAGCAGCACAATGAGAGGCTACGC
AAGCAGTTTGGAGCCCAGGCCAATGTCATCGGGCCCTGGATCCAGACCAAGATGGAGGAGATCGGGAGGATCTCCATTGAGATGCATGGG
ACCCTGGAGGACCAGCTCAGCCACCTGCGGCAGTATGAGAAGAGCATCGTCAACTACAAGCCAAAGATTGATCAGCTGGAGGGCGACCAC
CAGCTCATCCAGGAGGCGCTCATCTTCGACAACAAGCACACCAACTACACCATGGAGCACATCCGTGTGGGCTGGGAGCAGCTGCTCACC
ACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAATGAGTTCCGG
GCCTCCTTCAACCACTTTGACCGGAAGAAGACAGGCATGATGGACACGGATGATTTCCGCGCCTGCCTGATCTCCATGGGTTACAACATG
GGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCC
CGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAGAGTAAAACAGGAGCCCTGGAA
GGCCCAGAAGTGGATGGGTTTGTCAAAGACATGATGGAGCTTGTCCAGCCCAGCATCAGCGGGGTGGACCTTGATAAGTTCCGCGAGATT
CTCCTGCGTCACTGCGACGTGAACAAGGATGGAAAAATTCAGAAGTCTGAGCTGGCTTTGTGTCTTGGGCTGAAAATCAACCCATAATCC
CAGACTGCTTTGCCTTTTGCTCTTACTATGTTTCTGTGATCTTGCTGGTAGAATTGTATCTGTGCATTGATGTTGGGAACACAGTGGGCA
AACTCACAAATGGTGTGCTATTCTTGGGCAAGAACAGGGACGCTAGGGCCTTCCTTCCACCGGCGTGATCTATCCCTGTCTCACTGAAAG
CCCCTGTGTAGTGTCTGTGTTGTTTTCCCTTGACCCTGGGCTTTCCTATCCTCCCAAAGACTCAGCTCCCCTGTTAGATGGCTCTGCCTG
TCCTTCCCCAGTCACCAGGGTGGGGGGGACAGGGGCAGCTGAGTGCATTCATTTTGTGCTTTTCTTGTGGGCTTTCTGCTTAGTCTGAAA

>1750_1750_2_ACTN1-SCGN_ACTN1_chr14_69343799_ENST00000376839_SCGN_chr6_25691284_ENST00000377961_length(amino acids)=838AA_BP=773
MKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLL
WCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYV
SSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKC
QLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDY
ETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYL
EYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEING
KWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDH
QLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRKKTGMMDTDDFRACLISMGYNM
GEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKSKTGALEGPEVDGFVKDMMELVQPSISGVDLDKFREI

--------------------------------------------------------------
>1750_1750_3_ACTN1-SCGN_ACTN1_chr14_69343799_ENST00000394419_SCGN_chr6_25691284_ENST00000377961_length(transcript)=3415nt_BP=2769nt
CGCTGTCGCCGCCAGTAGCAGCCTTCGCCAGCAGCGCCGCGGCGGAACCGGGCGCAGGGGAGCGAGCCCGGCCCCGCCAGCCCAGCCCAG
CCCAGCCCTACTCCCTCCCCACGCCAGGGCAGCAGCCGTTGCTCAGAGAGAAGGTGGAGGAAGAAATCCAGACCCTAGCACGCGCGCACC
ATCATGGACCATTATGATTCTCAGCAAACCAACGATTACATGCAGCCAGAAGAGGACTGGGACCGGGACCTGCTCCTGGACCCGGCCTGG
GAGAAGCAGCAGAGAAAGACATTCACGGCATGGTGTAACTCCCACCTCCGGAAGGCGGGGACACAGATCGAGAACATCGAAGAGGACTTC
CGGGATGGCCTGAAGCTCATGCTGCTGCTGGAGGTCATCTCAGGTGAACGCTTGGCCAAGCCAGAGCGAGGCAAGATGAGAGTGCACAAG
ATCTCCAACGTCAACAAGGCCCTGGATTTCATAGCCAGCAAAGGCGTCAAACTGGTGTCCATCGGAGCCGAAGAAATCGTGGATGGGAAT
GTGAAGATGACCCTGGGCATGATCTGGACCATCATCCTGCGCTTTGCCATCCAGGACATCTCCGTGGAAGAGACTTCAGCCAAGGAAGGG
CTGCTCCTGTGGTGTCAGAGAAAGACAGCCCCTTACAAAAATGTCAACATCCAGAACTTCCACATAAGCTGGAAGGATGGCCTCGGCTTC
TGTGCTTTGATCCACCGACACCGGCCCGAGCTGATTGACTACGGGAAGCTGCGGAAGGATGATCCACTCACAAATCTGAATACGGCTTTT
GACGTGGCAGAGAAGTACCTGGACATCCCCAAGATGCTGGATGCCGAAGACATCGTTGGAACTGCCCGACCGGATGAGAAAGCCATCATG
ACTTACGTGTCTAGCTTCTACCACGCCTTCTCTGGAGCCCAGAAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAAC
CAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATCTGTTGGAGTGGATCCGCCGCACAATCCCGTGGCTGGAGAAC
CGGGTGCCCGAGAACACCATGCATGCCATGCAACAGAAGCTGGAGGACTTCCGGGACTACCGGCGCCTGCACAAGCCGCCCAAGGTGCAG
GAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGGCTCAGCAACCGGCCTGCCTTCATGCCCTCTGAGGGCAGG
ATGGTCTCGGACATCAACAATGCCTGGGGCTGCCTGGAGCAGGTGGAGAAGGGCTATGAGGAGTGGTTGCTGAATGAGATCCGGAGGCTG
GAGCGACTGGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGGCCTGGACTGACGGCAAAGAGGCCATGCTGCGACAG
AAGGACTATGAGACCGCCACCCTCTCGGAGATCAAGGCCCTGCTCAAGAAGCATGAGGCCTTCGAGAGTGACCTGGCTGCCCACCAGGAC
CGTGTGGAGCAGATTGCCGCCATCGCACAGGAGCTCAATGAGCTGGACTATTATGACTCACCCAGTGTCAACGCCCGTTGCCAAAAGATC
TGTGACCAGTGGGACAATCTGGGGGCCCTAACTCAGAAGCGAAGGGAAGCTCTGGAGCGGACCGAGAAACTGCTGGAGACCATTGACCAG
CTGTACTTGGAGTATGCCAAGCGGGCTGCACCCTTCAACAACTGGATGGAGGGGGCCATGGAGGACCTGCAGGACACCTTCATTGTGCAC
ACCATTGAGGAGATCCAGGGACTGACCACAGCCCATGAGCAGTTCAAGGCCACCCTCCCTGATGCCGACAAGGAGCGCCTGGCCATCCTG
GGCATCCACAATGAGGTGTCCAAGATTGTCCAGACCTACCACGTCAATATGGCGGGCACCAACCCCTACACAACCATCACGCCTCAGGAG
ATCAATGGCAAATGGGACCACGTGCGGCAGCTGGTGCCTCGGAGGGACCAAGCTCTGACGGAGGAGCATGCCCGACAGCAGCACAATGAG
AGGCTACGCAAGCAGTTTGGAGCCCAGGCCAATGTCATCGGGCCCTGGATCCAGACCAAGATGGAGGAGATCGGGAGGATCTCCATTGAG
ATGCATGGGACCCTGGAGGACCAGCTCAGCCACCTGCGGCAGTATGAGAAGAGCATCGTCAACTACAAGCCAAAGATTGATCAGCTGGAG
GGCGACCACCAGCTCATCCAGGAGGCGCTCATCTTCGACAACAAGCACACCAACTACACCATGGAGCACATCCGTGTGGGCTGGGAGCAG
CTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAAT
GAGTTCCGGGCCTCCTTCAACCACTTTGACCGGGATCACTCCGGCACACTGGGTCCCGAGGAGTTCAAAGCCTGCCTCATCAGCTTGGGT
TATGATATTGGCAACGACCCCCAGAAGAAGACAGGCATGATGGACACGGATGATTTCCGCGCCTGCCTGATCTCCATGGGTTACAACATG
GGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCC
CGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAGAGTAAAACAGGAGCCCTGGAA
GGCCCAGAAGTGGATGGGTTTGTCAAAGACATGATGGAGCTTGTCCAGCCCAGCATCAGCGGGGTGGACCTTGATAAGTTCCGCGAGATT
CTCCTGCGTCACTGCGACGTGAACAAGGATGGAAAAATTCAGAAGTCTGAGCTGGCTTTGTGTCTTGGGCTGAAAATCAACCCATAATCC
CAGACTGCTTTGCCTTTTGCTCTTACTATGTTTCTGTGATCTTGCTGGTAGAATTGTATCTGTGCATTGATGTTGGGAACACAGTGGGCA
AACTCACAAATGGTGTGCTATTCTTGGGCAAGAACAGGGACGCTAGGGCCTTCCTTCCACCGGCGTGATCTATCCCTGTCTCACTGAAAG
CCCCTGTGTAGTGTCTGTGTTGTTTTCCCTTGACCCTGGGCTTTCCTATCCTCCCAAAGACTCAGCTCCCCTGTTAGATGGCTCTGCCTG
TCCTTCCCCAGTCACCAGGGTGGGGGGGACAGGGGCAGCTGAGTGCATTCATTTTGTGCTTTTCTTGTGGGCTTTCTGCTTAGTCTGAAA

>1750_1750_3_ACTN1-SCGN_ACTN1_chr14_69343799_ENST00000394419_SCGN_chr6_25691284_ENST00000377961_length(amino acids)=927AA_BP=862
MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKI
SNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFC
ALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQ
ENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRM
VSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDR
VEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHT
IEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNER
LRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQL
LTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQKKTGMMDTDDFRACLISMGYNMG
EAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKSKTGALEGPEVDGFVKDMMELVQPSISGVDLDKFREIL

--------------------------------------------------------------
>1750_1750_4_ACTN1-SCGN_ACTN1_chr14_69343799_ENST00000438964_SCGN_chr6_25691284_ENST00000377961_length(transcript)=3357nt_BP=2711nt
AGGCAGTCCGCGAGCCCAGCCGCCGCTGTCGCCGCCAGTAGCAGCCTTCGCCAGCAGCGCCGCGGCGGAACCGGGCGCAGGGGAGCGAGC
CCGGCCCCGCCAGCCCAGCCCAGCCCAGCCCTACTCCCTCCCCACGCCAGGGCAGCAGCCGTTGCTCAGAGAGAAGGTGGAGGAAGAAAT
CCAGACCCTAGCACGCGCGCACCATCATGGACCATTATGATTCTCAGCAAACCAACGATTACATGCAGCCAGAAGAGGACTGGGACCGGG
ACCTGCTCCTGGACCCGGCCTGGGAGAAGCAGCAGAGAAAGACATTCACGGCATGGTGTAACTCCCACCTCCGGAAGGCGGGGACACAGA
TCGAGAACATCGAAGAGGACTTCCGGGATGGCCTGAAGCTCATGCTGCTGCTGGAGGTCATCTCAGGTGAACGCTTGGCCAAGCCAGAGC
GAGGCAAGATGAGAGTGCACAAGATCTCCAACGTCAACAAGGCCCTGGATTTCATAGCCAGCAAAGGCGTCAAACTGGTGTCCATCGGAG
CCGAAGAAATCGTGGATGGGAATGTGAAGATGACCCTGGGCATGATCTGGACCATCATCCTGCGCTTTGCCATCCAGGACATCTCCGTGG
AAGAGACTTCAGCCAAGGAAGGGCTGCTCCTGTGGTGTCAGAGAAAGACAGCCCCTTACAAAAATGTCAACATCCAGAACTTCCACATAA
GCTGGAAGGATGGCCTCGGCTTCTGTGCTTTGATCCACCGACACCGGCCCGAGCTGATTGACTACGGGAAGCTGCGGAAGGATGATCCAC
TCACAAATCTGAATACGGCTTTTGACGTGGCAGAGAAGTACCTGGACATCCCCAAGATGCTGGATGCCGAAGACATCGTTGGAACTGCCC
GACCGGATGAGAAAGCCATCATGACTTACGTGTCTAGCTTCTACCACGCCTTCTCTGGAGCCCAGAAGGCGGAGACAGCAGCCAATCGCA
TCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATCTGTTGGAGTGGATCCGCC
GCACAATCCCGTGGCTGGAGAACCGGGTGCCCGAGAACACCATGCATGCCATGCAACAGAAGCTGGAGGACTTCCGGGACTACCGGCGCC
TGCACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGGCTCAGCAACCGGCCTG
CCTTCATGCCCTCTGAGGGCAGGATGGTCTCGGACATCAACAATGCCTGGGGCTGCCTGGAGCAGGTGGAGAAGGGCTATGAGGAGTGGT
TGCTGAATGAGATCCGGAGGCTGGAGCGACTGGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGGCCTGGACTGACG
GCAAAGAGGCCATGCTGCGACAGAAGGACTATGAGACCGCCACCCTCTCGGAGATCAAGGCCCTGCTCAAGAAGCATGAGGCCTTCGAGA
GTGACCTGGCTGCCCACCAGGACCGTGTGGAGCAGATTGCCGCCATCGCACAGGAGCTCAATGAGCTGGACTATTATGACTCACCCAGTG
TCAACGCCCGTTGCCAAAAGATCTGTGACCAGTGGGACAATCTGGGGGCCCTAACTCAGAAGCGAAGGGAAGCTCTGGAGCGGACCGAGA
AACTGCTGGAGACCATTGACCAGCTGTACTTGGAGTATGCCAAGCGGGCTGCACCCTTCAACAACTGGATGGAGGGGGCCATGGAGGACC
TGCAGGACACCTTCATTGTGCACACCATTGAGGAGATCCAGGGACTGACCACAGCCCATGAGCAGTTCAAGGCCACCCTCCCTGATGCCG
ACAAGGAGCGCCTGGCCATCCTGGGCATCCACAATGAGGTGTCCAAGATTGTCCAGACCTACCACGTCAATATGGCGGGCACCAACCCCT
ACACAACCATCACGCCTCAGGAGATCAATGGCAAATGGGACCACGTGCGGCAGCTGGTGCCTCGGAGGGACCAAGCTCTGACGGAGGAGC
ATGCCCGACAGCAGCACAATGAGAGGCTACGCAAGCAGTTTGGAGCCCAGGCCAATGTCATCGGGCCCTGGATCCAGACCAAGATGGAGG
AGATCGGGAGGATCTCCATTGAGATGCATGGGACCCTGGAGGACCAGCTCAGCCACCTGCGGCAGTATGAGAAGAGCATCGTCAACTACA
AGCCAAAGATTGATCAGCTGGAGGGCGACCACCAGCTCATCCAGGAGGCGCTCATCTTCGACAACAAGCACACCAACTACACCATGGAGC
ACATCCGTGTGGGCTGGGAGCAGCTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGG
GCATCAGCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGGAAGAAGACAGGCATGATGGACACGGATGATTTCC
GCGCCTGCCTGATCTCCATGGGTTACAACATGGGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAG
TGACATTCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGG
CTGGGGACAAGAGTAAAACAGGAGCCCTGGAAGGCCCAGAAGTGGATGGGTTTGTCAAAGACATGATGGAGCTTGTCCAGCCCAGCATCA
GCGGGGTGGACCTTGATAAGTTCCGCGAGATTCTCCTGCGTCACTGCGACGTGAACAAGGATGGAAAAATTCAGAAGTCTGAGCTGGCTT
TGTGTCTTGGGCTGAAAATCAACCCATAATCCCAGACTGCTTTGCCTTTTGCTCTTACTATGTTTCTGTGATCTTGCTGGTAGAATTGTA
TCTGTGCATTGATGTTGGGAACACAGTGGGCAAACTCACAAATGGTGTGCTATTCTTGGGCAAGAACAGGGACGCTAGGGCCTTCCTTCC
ACCGGCGTGATCTATCCCTGTCTCACTGAAAGCCCCTGTGTAGTGTCTGTGTTGTTTTCCCTTGACCCTGGGCTTTCCTATCCTCCCAAA
GACTCAGCTCCCCTGTTAGATGGCTCTGCCTGTCCTTCCCCAGTCACCAGGGTGGGGGGGACAGGGGCAGCTGAGTGCATTCATTTTGTG
CTTTTCTTGTGGGCTTTCTGCTTAGTCTGAAAGGTGTGTGGCATTCATGGCAATCCTGTAACTTCAACATAGATTTTTTTGTGTGTGTGG

>1750_1750_4_ACTN1-SCGN_ACTN1_chr14_69343799_ENST00000438964_SCGN_chr6_25691284_ENST00000377961_length(amino acids)=900AA_BP=835
MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKI
SNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFC
ALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQ
ENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRM
VSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDR
VEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHT
IEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNER
LRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQL
LTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDF
MSRETADTDTADQVMASFKILAGDKSKTGALEGPEVDGFVKDMMELVQPSISGVDLDKFREILLRHCDVNKDGKIQKSELALCLGLKINP

--------------------------------------------------------------
>1750_1750_5_ACTN1-SCGN_ACTN1_chr14_69343799_ENST00000538545_SCGN_chr6_25691284_ENST00000377961_length(transcript)=3171nt_BP=2525nt
CCTAGCACGCGCGCACCATCATGGACCATTATGATTCTCAGCAAACCAACGATTACATGCAGCCAGAAGAGGACTGGGACCGGGACCTGC
TCCTGGACCCGGCCTGGGAGAAGCAGCAGAGAAAGACATTCACGGCATGGTGTAACTCCCACCTCCGGAAGGCGGGGACACAGATCGAGA
ACATCGAAGAGGACTTCCGGGATGGCCTGAAGCTCATGCTGCTGCTGGAGGTCATCTCAGGTGAACGCTTGGCCAAGCCAGAGCGAGGCA
AGATGAGAGTGCACAAGATCTCCAACGTCAACAAGGCCCTGGATTTCATAGCCAGCAAAGGCGTCAAACTGGTGTCCATCGGAGCCGAAG
AAATCGTGGATGGGAATGTGAAGATGACCCTGGGCATGATCTGGACCATCATCCTGCGCTTTGCCATCCAGGACATCTCCGTGGAAGAGA
CTTCAGCCAAGGAAGGGCTGCTCCTGTGGTGTCAGAGAAAGACAGCCCCTTACAAAAATGTCAACATCCAGAACTTCCACATAAGCTGGA
AGGATGGCCTCGGCTTCTGTGCTTTGATCCACCGACACCGGCCCGAGCTGATTGACTACGGGAAGCTGCGGAAGGATGATCCACTCACAA
ATCTGAATACGGCTTTTGACGTGGCAGAGAAGTACCTGGACATCCCCAAGATGCTGGATGCCGAAGACATCGTTGGAACTGCCCGACCGG
ATGAGAAAGCCATCATGACTTACGTGTCTAGCTTCTACCACGCCTTCTCTGGAGCCCAGAAGGCGGAGACAGCAGCCAATCGCATCTGCA
AGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATCTGTTGGAGTGGATCCGCCGCACAA
TCCCGTGGCTGGAGAACCGGGTGCCCGAGAACACCATGCATGCCATGCAACAGAAGCTGGAGGACTTCCGGGACTACCGGCGCCTGCACA
AGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGGCTCAGCAACCGGCCTGCCTTCA
TGCCCTCTGAGGGCAGGATGGTCTCGGACATCAACAATGCCTGGGGCTGCCTGGAGCAGGTGGAGAAGGGCTATGAGGAGTGGTTGCTGA
ATGAGATCCGGAGGCTGGAGCGACTGGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGGCCTGGACTGACGGCAAAG
AGGCCATGCTGCGACAGAAGGACTATGAGACCGCCACCCTCTCGGAGATCAAGGCCCTGCTCAAGAAGCATGAGGCCTTCGAGAGTGACC
TGGCTGCCCACCAGGACCGTGTGGAGCAGATTGCCGCCATCGCACAGGAGCTCAATGAGCTGGACTATTATGACTCACCCAGTGTCAACG
CCCGTTGCCAAAAGATCTGTGACCAGTGGGACAATCTGGGGGCCCTAACTCAGAAGCGAAGGGAAGCTCTGGAGCGGACCGAGAAACTGC
TGGAGACCATTGACCAGCTGTACTTGGAGTATGCCAAGCGGGCTGCACCCTTCAACAACTGGATGGAGGGGGCCATGGAGGACCTGCAGG
ACACCTTCATTGTGCACACCATTGAGGAGATCCAGGGACTGACCACAGCCCATGAGCAGTTCAAGGCCACCCTCCCTGATGCCGACAAGG
AGCGCCTGGCCATCCTGGGCATCCACAATGAGGTGTCCAAGATTGTCCAGACCTACCACGTCAATATGGCGGGCACCAACCCCTACACAA
CCATCACGCCTCAGGAGATCAATGGCAAATGGGACCACGTGCGGCAGCTGGTGCCTCGGAGGGACCAAGCTCTGACGGAGGAGCATGCCC
GACAGCAGCACAATGAGAGGCTACGCAAGCAGTTTGGAGCCCAGGCCAATGTCATCGGGCCCTGGATCCAGACCAAGATGGAGGAGATCG
GGAGGATCTCCATTGAGATGCATGGGACCCTGGAGGACCAGCTCAGCCACCTGCGGCAGTATGAGAAGAGCATCGTCAACTACAAGCCAA
AGATTGATCAGCTGGAGGGCGACCACCAGCTCATCCAGGAGGCGCTCATCTTCGACAACAAGCACACCAACTACACCATGGAGCACATCC
GTGTGGGCTGGGAGCAGCTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCA
GCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGGAAGAAGACAGGCATGATGGACACGGATGATTTCCGCGCCT
GCCTGATCTCCATGGGTTACAACATGGGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACAT
TCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGG
ACAAGAGTAAAACAGGAGCCCTGGAAGGCCCAGAAGTGGATGGGTTTGTCAAAGACATGATGGAGCTTGTCCAGCCCAGCATCAGCGGGG
TGGACCTTGATAAGTTCCGCGAGATTCTCCTGCGTCACTGCGACGTGAACAAGGATGGAAAAATTCAGAAGTCTGAGCTGGCTTTGTGTC
TTGGGCTGAAAATCAACCCATAATCCCAGACTGCTTTGCCTTTTGCTCTTACTATGTTTCTGTGATCTTGCTGGTAGAATTGTATCTGTG
CATTGATGTTGGGAACACAGTGGGCAAACTCACAAATGGTGTGCTATTCTTGGGCAAGAACAGGGACGCTAGGGCCTTCCTTCCACCGGC
GTGATCTATCCCTGTCTCACTGAAAGCCCCTGTGTAGTGTCTGTGTTGTTTTCCCTTGACCCTGGGCTTTCCTATCCTCCCAAAGACTCA
GCTCCCCTGTTAGATGGCTCTGCCTGTCCTTCCCCAGTCACCAGGGTGGGGGGGACAGGGGCAGCTGAGTGCATTCATTTTGTGCTTTTC
TTGTGGGCTTTCTGCTTAGTCTGAAAGGTGTGTGGCATTCATGGCAATCCTGTAACTTCAACATAGATTTTTTTGTGTGTGTGGAAATAA

>1750_1750_5_ACTN1-SCGN_ACTN1_chr14_69343799_ENST00000538545_SCGN_chr6_25691284_ENST00000377961_length(amino acids)=900AA_BP=835
MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKI
SNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFC
ALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQ
ENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRM
VSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDR
VEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHT
IEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNER
LRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQL
LTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDF
MSRETADTDTADQVMASFKILAGDKSKTGALEGPEVDGFVKDMMELVQPSISGVDLDKFREILLRHCDVNKDGKIQKSELALCLGLKINP

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Fusion Gene PPI Analysis for ACTN1-SCGN


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
HgeneACTN1chr14:69343799chr6:25691284ENST00000193403-2021274_733840.0893.0DDN
HgeneACTN1chr14:69343799chr6:25691284ENST00000394419-2122274_733862.0915.0DDN
HgeneACTN1chr14:69343799chr6:25691284ENST00000438964-2021274_733835.0888.0DDN
HgeneACTN1chr14:69343799chr6:25691284ENST00000538545-2021274_733835.0931.0DDN


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 ACTN1-SCGN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneACTN1P12814DB06773Human calcitoninIncorporation into and destabilizationBiotechApproved|Investigational
HgeneACTN1P12814DB09130CopperSmall moleculeApproved|Investigational

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Related Diseases for ACTN1-SCGN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTN1C3554663BLEEDING DISORDER, PLATELET-TYPE, 153CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACTN1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneACTN1C4304021Autosomal dominant macrothrombocytopenia1ORPHANET