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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:SMAD6-NPAS2 (FusionGDB2 ID:HG4091TG4862)

Fusion Gene Summary for SMAD6-NPAS2

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAD6-NPAS2
Fusion gene ID: hg4091tg4862
HgeneTgene
Gene symbol

SMAD6

NPAS2

Gene ID

4091

4862

Gene nameSMAD family member 6neuronal PAS domain protein 2
SynonymsAOVD2|HsT17432|MADH6|MADH7MOP4|PASD4|bHLHe9
Cytomap('SMAD6')('NPAS2')

15q22.31

2q11.2

Type of geneprotein-codingprotein-coding
Descriptionmothers against decapentaplegic homolog 6MAD homolog 6SMAD, mothers against DPP homolog 6mothers against decapentaplegic, drosophila, homolog of, 6neuronal PAS domain-containing protein 2PAS domain-containing protein 4basic-helix-loop-helix-PAS protein MOP4class E basic helix-loop-helix protein 9member of PAS protein 4member of PAS superfamily 4neuronal PAS2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000288840, ENST00000338426, 
ENST00000457357, 
Fusion gene scores* DoF score4 X 3 X 4=489 X 9 X 5=405
# samples 59
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/405*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMAD6 [Title/Abstract] AND NPAS2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSMAD6(67004062)-NPAS2(101580519), # samples:1
Anticipated loss of major functional domain due to fusion event.SMAD6-NPAS2 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.
SMAD6-NPAS2 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.
SMAD6-NPAS2 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.
SMAD6-NPAS2 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
HgeneSMAD6

GO:0010991

negative regulation of SMAD protein complex assembly

9436979

HgeneSMAD6

GO:0030509

BMP signaling pathway

23455153

HgeneSMAD6

GO:0030514

negative regulation of BMP signaling pathway

9436979

HgeneSMAD6

GO:0032496

response to lipopolysaccharide

19193853

HgeneSMAD6

GO:0045444

fat cell differentiation

23455153

HgeneSMAD6

GO:0060394

negative regulation of pathway-restricted SMAD protein phosphorylation

9436979

TgeneNPAS2

GO:0045893

positive regulation of transcription, DNA-templated

11441146

TgeneNPAS2

GO:0051775

response to redox state

11441146


check buttonFusion gene breakpoints across SMAD6 (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 NPAS2 (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
ChimerDB4ESCATCGA-L5-A891SMAD6chr15

67004062

+NPAS2chr2

101580519

+


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Fusion Gene ORF analysis for SMAD6-NPAS2

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-3UTRENST00000288840ENST00000486017SMAD6chr15

67004062

+NPAS2chr2

101580519

+
5CDS-3UTRENST00000338426ENST00000486017SMAD6chr15

67004062

+NPAS2chr2

101580519

+
5CDS-3UTRENST00000457357ENST00000486017SMAD6chr15

67004062

+NPAS2chr2

101580519

+
In-frameENST00000288840ENST00000335681SMAD6chr15

67004062

+NPAS2chr2

101580519

+
In-frameENST00000288840ENST00000542504SMAD6chr15

67004062

+NPAS2chr2

101580519

+
In-frameENST00000338426ENST00000335681SMAD6chr15

67004062

+NPAS2chr2

101580519

+
In-frameENST00000338426ENST00000542504SMAD6chr15

67004062

+NPAS2chr2

101580519

+
In-frameENST00000457357ENST00000335681SMAD6chr15

67004062

+NPAS2chr2

101580519

+
In-frameENST00000457357ENST00000542504SMAD6chr15

67004062

+NPAS2chr2

101580519

+

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)
ENST00000288840SMAD6chr1567004062+ENST00000335681NPAS2chr2101580519+5029190510313781916
ENST00000288840SMAD6chr1567004062+ENST00000542504NPAS2chr2101580519+3835190510313781916
ENST00000457357SMAD6chr1567004062+ENST00000335681NPAS2chr2101580519+492117979233673916
ENST00000457357SMAD6chr1567004062+ENST00000542504NPAS2chr2101580519+372717979233673916
ENST00000338426SMAD6chr1567004062+ENST00000335681NPAS2chr2101580519+33282041132080655
ENST00000338426SMAD6chr1567004062+ENST00000542504NPAS2chr2101580519+21342041132080655

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
ENST00000288840ENST00000335681SMAD6chr1567004062+NPAS2chr2101580519+0.0116182660.9883817
ENST00000288840ENST00000542504SMAD6chr1567004062+NPAS2chr2101580519+0.0265323970.97346765
ENST00000457357ENST00000335681SMAD6chr1567004062+NPAS2chr2101580519+0.0103499950.98965
ENST00000457357ENST00000542504SMAD6chr1567004062+NPAS2chr2101580519+0.0244989410.9755011
ENST00000338426ENST00000335681SMAD6chr1567004062+NPAS2chr2101580519+0.0623729080.9376271
ENST00000338426ENST00000542504SMAD6chr1567004062+NPAS2chr2101580519+0.033342870.9666571

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Fusion Genomic Features for SMAD6-NPAS2


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)
SMAD6chr1567004062+NPAS2chr2101580519+0.102633460.89736646
SMAD6chr1567004062+NPAS2chr2101580519+0.102633460.89736646

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 SMAD6-NPAS2


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/chr15:67004062/chr2:101580519)
- 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
..
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: 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
HgeneSMAD6chr15:67004062chr2:101580519ENST00000288840+24165_168291497.0Compositional biasNote=Poly-Leu
HgeneSMAD6chr15:67004062chr2:101580519ENST00000288840+24251_254291497.0Compositional biasNote=Poly-Ala
HgeneSMAD6chr15:67004062chr2:101580519ENST00000288840+2425_33291497.0Compositional biasNote=Poly-Gly
HgeneSMAD6chr15:67004062chr2:101580519ENST00000288840+24275_278291497.0Compositional biasNote=Poly-Pro
HgeneSMAD6chr15:67004062chr2:101580519ENST00000288840+2482_85291497.0Compositional biasNote=Poly-Arg
HgeneSMAD6chr15:67004062chr2:101580519ENST00000338426+2425_3330236.0Compositional biasNote=Poly-Gly
HgeneSMAD6chr15:67004062chr2:101580519ENST00000457357+24165_168291339.0Compositional biasNote=Poly-Leu
HgeneSMAD6chr15:67004062chr2:101580519ENST00000457357+24251_254291339.0Compositional biasNote=Poly-Ala
HgeneSMAD6chr15:67004062chr2:101580519ENST00000457357+2425_33291339.0Compositional biasNote=Poly-Gly
HgeneSMAD6chr15:67004062chr2:101580519ENST00000457357+24275_278291339.0Compositional biasNote=Poly-Pro
HgeneSMAD6chr15:67004062chr2:101580519ENST00000457357+2482_85291339.0Compositional biasNote=Poly-Arg
HgeneSMAD6chr15:67004062chr2:101580519ENST00000288840+24148_275291497.0DomainMH1
HgeneSMAD6chr15:67004062chr2:101580519ENST00000457357+24148_275291339.0DomainMH1
TgeneNPAS2chr15:67004062chr2:101580519ENST00000335681621237_307199825.0DomainPAS 2
TgeneNPAS2chr15:67004062chr2:101580519ENST00000335681621311_354199825.0DomainNote=PAC

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMAD6chr15:67004062chr2:101580519ENST00000338426+24165_16830236.0Compositional biasNote=Poly-Leu
HgeneSMAD6chr15:67004062chr2:101580519ENST00000338426+24251_25430236.0Compositional biasNote=Poly-Ala
HgeneSMAD6chr15:67004062chr2:101580519ENST00000338426+24275_27830236.0Compositional biasNote=Poly-Pro
HgeneSMAD6chr15:67004062chr2:101580519ENST00000338426+2482_8530236.0Compositional biasNote=Poly-Arg
HgeneSMAD6chr15:67004062chr2:101580519ENST00000288840+24331_496291497.0DomainMH2
HgeneSMAD6chr15:67004062chr2:101580519ENST00000338426+24148_27530236.0DomainMH1
HgeneSMAD6chr15:67004062chr2:101580519ENST00000338426+24331_49630236.0DomainMH2
HgeneSMAD6chr15:67004062chr2:101580519ENST00000457357+24331_496291339.0DomainMH2
TgeneNPAS2chr15:67004062chr2:101580519ENST0000033568162182_152199825.0DomainPAS 1
TgeneNPAS2chr15:67004062chr2:101580519ENST000003356816219_59199825.0DomainbHLH
TgeneNPAS2chr15:67004062chr2:101580519ENST000003356816211_61199825.0RegionSufficient for heterodimer formation with ARNTL/BMAL1%2C E-box binding and for the effect of NADPH


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Fusion Gene Sequence for SMAD6-NPAS2


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.
>83827_83827_1_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000288840_NPAS2_chr2_101580519_ENST00000335681_length(transcript)=5029nt_BP=1905nt
AGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGA
GAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGG
CCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCT
GCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACC
CGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAG
GTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCC
TTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAG
GGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCG
CCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGG
CTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGC
GGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCG
GAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTC
GTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCC
CGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCG
CCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACG
TGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCG
CGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGC
TGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGT
CCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCG
GCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCC
CTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGAATCTCCGCCACCTCCCTACTCTCGGCTGTCTCCTCGCGACG
AGTACAAGCCACTGGTGCCTAGCCCCTCCTGTAATGGTTTTGACAACACCCTTTCAAGACCTTGCCGGGTGCCACTAGGAAAGGAGGTTT
GCTTCATTGCCACCGTTCGTCTGGCAACACCACAATTCTTAAAGGAAATGTGCATAGTTGACGAACCTTTAGAGGAATTCACTTCAAGGC
ATAGCTTGGAATGGAAATTTTTATTTCTGGATCACAGAGCACCTCCAATCATAGGATACCTGCCTTTTGAAGTGCTGGGAACCTCAGGCT
ATGACTACTACCACATTGATGACCTGGAGCTCCTGGCCAGGTGTCACCAGCACCTGATGCAGTTTGGCAAAGGGAAGTCGTGTTGCTACC
GGTTTCTGACCAAAGGTCAGCAGTGGATCTGGCTGCAGACTCACTACTACATCACCTACCATCAGTGGAACTCCAAGCCCGAGTTCATCG
TGTGCACACACTCGGTGGTCAGTTACGCAGATGTCCGGGTGGAAAGGAGGCAGGAGCTGGCTCTGGAAGACCCGCCATCCGAGGCCCTCC
ACTCCTCAGCACTAAAGGACAAGGGCTCAAGCCTGGAACCTCGGCAGCACTTTAACACACTCGACGTGGGTGCCTCGGGCCTTAATACCA
GTCATTCGCCATCGGCGTCCTCAAGAAGTTCCCACAAATCCTCGCACACAGCCATGTCAGAACCCACCTCCACTCCCACCAAGCTGATGG
CAGAGGCCAGCACCCCGGCTTTGCCAAGATCAGCCACCCTGCCCCAAGAGTTACCTGTCCCCGGGCTCAGCCAGGCAGCCACCATGCCGG
CCCCTCTGCCTTCCCCATCGTCCTGCGACCTCACACAGCAGCTCCTGCCTCAGACCGTTCTGCAGAGCACGCCCGCTCCCATGGCACAGT
TTTCGGCACAGTTCAGCATGTTCCAGACCATCAAAGACCAGCTAGAGCAGCGGACGCGGATCCTGCAGGCCAATATCCGGTGGCAACAGG
AAGAGCTCCACAAGATCCAGGAGCAGCTCTGCCTGGTCCAGGACTCCAACGTCCAGATGTTCCTGCAGCAGCCAGCTGTATCCCTGAGCT
TCAGCAGCACCCAGCGACCTGAGGCTCAGCAGCAGCTACAGCAAAGGTCAGCTGCAGTGACTCAGCCCCAGCTCGGGGCGGGCCCCCAAC
TTCCAGGGCAGATCTCCTCTGCCCAGGTCACAAGCCAGCACCTGCTCAGAGAATCAAGTGTGATATCAACCCAGGGTCCAAAGCCAATGA
GAAGCTCACAGCTAATGCAGAGCAGCGGCCGCTCTGGAAGCAGCCTAGTGTCCCCGTTCAGCAGCGCCACAGCTGCGCTCCCGCCAAGTC
TGAATCTGACCACACCTGCTTCCACCTCCCAGGATGCCAGCCAGTGCCAGCCCAGCCCAGACTTCAGCCATGATCGGCAGCTCAGGCTGT
TGCTGAGCCAGCCCATCCAGCCCATGATGCCCGGGTCCTGTGACGCAAGGCAGCCCTCGGAAGTCAGCAGGACGGGACGGCAAGTCAAGT
ACGCCCAGAGCCAGACCGTGTTTCAAAATCCAGACGCACACCCCGCCAACAGCAGCAGCGCCCCGATGCCCGTCCTGCTGATGGGGCAGG
CGGTGCTCCACCCCAGCTTCCCTGCCTCCCAACCATCGCCCCTGCAGCCTGCACAGGCCCGGCAGCAGCCACCGCAGCACTACCTGCAGG
TACAGGCACCAACCTCTTTGCACAGTGAGCAGCAGGACTCGCTACTTCTCTCCACCTACTCACAACAGCCAGGGACCCTGGGCTACCCCC
AACCACCCCCAGCACAGCCCCAGCCCCTACGTCCTCCCCGAAGGGTCAGCAGTCTGTCTGAGTCGTCAGGCCTCCAGCAGCCGCCCCGAT
AATGCCCCGGCACTGAAGTCGGGACACAATCAGCTTTAACCAATGGATGAGGGGGGTGGCCACAGGAGATGGGGAGAGGAGTCTGAACTA
AACCCCTGGCTTTTGTGCACACTGCATACGTTTCAGAACTCCTGGATGGTAACCATCTCTGGAGTGCAGCGCTTGCTGCAGTGGAAATGA
TCAGGAATACTGACCGTGTTTCTCTTGCCTCCGAGGTTCTTGGGCACACTCTATAGCCATACTGGACAGGAACCAGGTGCCCCGTGTAGG
CATCGTCGGTCGGTTTGCCGTCAGAGATGGCGCATCTCGCTGCATCCCCCGAGAGTACACCGGTTGCTCTAGCCACCTGCGGCCCGCCCA
TCTGCGCTAGCTGGCCTTCACGCTCTTGATCGTCTTTCCTTTGTATTGGAGAAGGACTGGGTCAGAGATCTGTTGGAGAGAGAGAATAAA
GAGATTATTTTTCATTATTTTTAAATGGTTGTTTTTGTTTTAATTTGCACAGCTACACAGAGGAAATAACTTAGGCACTTTCTGTTTTTT
TTAAAAAAATAATAAGGTCTCATGGCTTCATTTAGAGACCACAGTAACAACAGCAGCCCACCAATCAGAGAAGCTGGTTGTTATTAACCA
AGCTACAGATTCACACTTTCTGGCCTAAACCCTAATGGGATGAGGCTTTTCACCCCAGGCCATGCTGGTGGTGATTTTTTAGCCCCTAAA
TAAAACACTGGACTATTTCCTGTTTACTTCATTGATTGCAACTACAAAGGTGGACTCAAAGCAAAGCACAATCATGCCAGCCAACATTCC
AGAATTCTGCTGAGAACTCCAAGTCTGTGAGGGGAGAGGTTTTACAAGCCAGACAGGCCTGGGGGACTGCAGTCCCCAAGGAGACCCTGC
CACATGCTGGCCCTTTGAGTGAGAATGCTGCATCTTTCTACATATCTTCATGAGAATACTGAGAATTGGATTTTCCTTTTCAAAATGCAC
TTTGCTTTTTTTGTATGTTTTGTTATGTTGAGATGTTTCTAAAGAAAAGATTTTATGTAATTATAAGATGAAGCGTAGTGAATTGTACAG
CTGTTGTAATAATGACCTATTTCTATATAAAATAAAATTGTATGGCTTATGTGTAAATTATTTTGTATCTGAGATACCAGTTCCTTTTCC

>83827_83827_1_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000288840_NPAS2_chr2_101580519_ENST00000335681_length(amino acids)=916AA_BP=289
MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPP
RPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLL
KRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLC
GPESPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEWKFLFLDHRA
PPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHSVVSYADVRV
ERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEASTPALPRSATL
PQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHKIQEQLCLVQ
DSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQLMQSSGRSGS
SLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQTVFQNPDAH
PANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPAQPQPLRPPR

--------------------------------------------------------------
>83827_83827_2_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000288840_NPAS2_chr2_101580519_ENST00000542504_length(transcript)=3835nt_BP=1905nt
AGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGA
GAGAGCCGAGCGGGGGAGCGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGG
CCACCGGGAGGCACTTTTGTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCT
GCGACCTCTGCATCGGTGGACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACC
CGCGTCCAGGAGAAACTCGCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAG
GTTTTGTTTGGGATTTCCTTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCC
TTTCGGATCCTGCGGGAAAAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAG
GGGTTCGCGCGAGCGCTTTGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCG
CCTGCAGCCCCCCTAAAGCGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGG
CTCGGCGTGCGCGTGTTCCCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGC
GGTCTGCACGGCGCTCCGCGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCG
GAGACCGCCTCCCCCCCACCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTC
GTGTGGTCCCCGACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCC
CGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCG
CCCAGGGCGCGGGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACG
TGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCG
CGCCCCGGGACGCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGC
TGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGT
CCCGCGGCGGCGTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCG
GCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCC
CTACCGTGTGCTGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCGAATCTCCGCCACCTCCCTACTCTCGGCTGTCTCCTCGCGACG
AGTACAAGCCACTGGTGCCTAGCCCCTCCTGTAATGGTTTTGACAACACCCTTTCAAGACCTTGCCGGGTGCCACTAGGAAAGGAGGTTT
GCTTCATTGCCACCGTTCGTCTGGCAACACCACAATTCTTAAAGGAAATGTGCATAGTTGACGAACCTTTAGAGGAATTCACTTCAAGGC
ATAGCTTGGAATGGAAATTTTTATTTCTGGATCACAGAGCACCTCCAATCATAGGATACCTGCCTTTTGAAGTGCTGGGAACCTCAGGCT
ATGACTACTACCACATTGATGACCTGGAGCTCCTGGCCAGGTGTCACCAGCACCTGATGCAGTTTGGCAAAGGGAAGTCGTGTTGCTACC
GGTTTCTGACCAAAGGTCAGCAGTGGATCTGGCTGCAGACTCACTACTACATCACCTACCATCAGTGGAACTCCAAGCCCGAGTTCATCG
TGTGCACACACTCGGTGGTCAGTTACGCAGATGTCCGGGTGGAAAGGAGGCAGGAGCTGGCTCTGGAAGACCCGCCATCCGAGGCCCTCC
ACTCCTCAGCACTAAAGGACAAGGGCTCAAGCCTGGAACCTCGGCAGCACTTTAACACACTCGACGTGGGTGCCTCGGGCCTTAATACCA
GTCATTCGCCATCGGCGTCCTCAAGAAGTTCCCACAAATCCTCGCACACAGCCATGTCAGAACCCACCTCCACTCCCACCAAGCTGATGG
CAGAGGCCAGCACCCCGGCTTTGCCAAGATCAGCCACCCTGCCCCAAGAGTTACCTGTCCCCGGGCTCAGCCAGGCAGCCACCATGCCGG
CCCCTCTGCCTTCCCCATCGTCCTGCGACCTCACACAGCAGCTCCTGCCTCAGACCGTTCTGCAGAGCACGCCCGCTCCCATGGCACAGT
TTTCGGCACAGTTCAGCATGTTCCAGACCATCAAAGACCAGCTAGAGCAGCGGACGCGGATCCTGCAGGCCAATATCCGGTGGCAACAGG
AAGAGCTCCACAAGATCCAGGAGCAGCTCTGCCTGGTCCAGGACTCCAACGTCCAGATGTTCCTGCAGCAGCCAGCTGTATCCCTGAGCT
TCAGCAGCACCCAGCGACCTGAGGCTCAGCAGCAGCTACAGCAAAGGTCAGCTGCAGTGACTCAGCCCCAGCTCGGGGCGGGCCCCCAAC
TTCCAGGGCAGATCTCCTCTGCCCAGGTCACAAGCCAGCACCTGCTCAGAGAATCAAGTGTGATATCAACCCAGGGTCCAAAGCCAATGA
GAAGCTCACAGCTAATGCAGAGCAGCGGCCGCTCTGGAAGCAGCCTAGTGTCCCCGTTCAGCAGCGCCACAGCTGCGCTCCCGCCAAGTC
TGAATCTGACCACACCTGCTTCCACCTCCCAGGATGCCAGCCAGTGCCAGCCCAGCCCAGACTTCAGCCATGATCGGCAGCTCAGGCTGT
TGCTGAGCCAGCCCATCCAGCCCATGATGCCCGGGTCCTGTGACGCAAGGCAGCCCTCGGAAGTCAGCAGGACGGGACGGCAAGTCAAGT
ACGCCCAGAGCCAGACCGTGTTTCAAAATCCAGACGCACACCCCGCCAACAGCAGCAGCGCCCCGATGCCCGTCCTGCTGATGGGGCAGG
CGGTGCTCCACCCCAGCTTCCCTGCCTCCCAACCATCGCCCCTGCAGCCTGCACAGGCCCGGCAGCAGCCACCGCAGCACTACCTGCAGG
TACAGGCACCAACCTCTTTGCACAGTGAGCAGCAGGACTCGCTACTTCTCTCCACCTACTCACAACAGCCAGGGACCCTGGGCTACCCCC
AACCACCCCCAGCACAGCCCCAGCCCCTACGTCCTCCCCGAAGGGTCAGCAGTCTGTCTGAGTCGTCAGGCCTCCAGCAGCCGCCCCGAT

>83827_83827_2_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000288840_NPAS2_chr2_101580519_ENST00000542504_length(amino acids)=916AA_BP=289
MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPP
RPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLL
KRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLC
GPESPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEWKFLFLDHRA
PPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHSVVSYADVRV
ERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEASTPALPRSATL
PQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHKIQEQLCLVQ
DSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQLMQSSGRSGS
SLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQTVFQNPDAH
PANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPAQPQPLRPPR

--------------------------------------------------------------
>83827_83827_3_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000338426_NPAS2_chr2_101580519_ENST00000335681_length(transcript)=3328nt_BP=204nt
AAAAGAACGAAGTCCAGCACCAAAACGTGCTACAACATGGATGAACTTCGATGACTTTGTGCCACATGAAAGAAGAAGCCAGCCACAAAA
GGCCATATATTGTATGAAATGAAATGTCCAGAATGGGCAAACCCATAGAGACACAAAAATCTCCGCCACCTCCCTACTCTCGGCTGTCTC
CTCGCGACGAGTACAAGCCACTGGTGCCTAGCCCCTCCTGTAATGGTTTTGACAACACCCTTTCAAGACCTTGCCGGGTGCCACTAGGAA
AGGAGGTTTGCTTCATTGCCACCGTTCGTCTGGCAACACCACAATTCTTAAAGGAAATGTGCATAGTTGACGAACCTTTAGAGGAATTCA
CTTCAAGGCATAGCTTGGAATGGAAATTTTTATTTCTGGATCACAGAGCACCTCCAATCATAGGATACCTGCCTTTTGAAGTGCTGGGAA
CCTCAGGCTATGACTACTACCACATTGATGACCTGGAGCTCCTGGCCAGGTGTCACCAGCACCTGATGCAGTTTGGCAAAGGGAAGTCGT
GTTGCTACCGGTTTCTGACCAAAGGTCAGCAGTGGATCTGGCTGCAGACTCACTACTACATCACCTACCATCAGTGGAACTCCAAGCCCG
AGTTCATCGTGTGCACACACTCGGTGGTCAGTTACGCAGATGTCCGGGTGGAAAGGAGGCAGGAGCTGGCTCTGGAAGACCCGCCATCCG
AGGCCCTCCACTCCTCAGCACTAAAGGACAAGGGCTCAAGCCTGGAACCTCGGCAGCACTTTAACACACTCGACGTGGGTGCCTCGGGCC
TTAATACCAGTCATTCGCCATCGGCGTCCTCAAGAAGTTCCCACAAATCCTCGCACACAGCCATGTCAGAACCCACCTCCACTCCCACCA
AGCTGATGGCAGAGGCCAGCACCCCGGCTTTGCCAAGATCAGCCACCCTGCCCCAAGAGTTACCTGTCCCCGGGCTCAGCCAGGCAGCCA
CCATGCCGGCCCCTCTGCCTTCCCCATCGTCCTGCGACCTCACACAGCAGCTCCTGCCTCAGACCGTTCTGCAGAGCACGCCCGCTCCCA
TGGCACAGTTTTCGGCACAGTTCAGCATGTTCCAGACCATCAAAGACCAGCTAGAGCAGCGGACGCGGATCCTGCAGGCCAATATCCGGT
GGCAACAGGAAGAGCTCCACAAGATCCAGGAGCAGCTCTGCCTGGTCCAGGACTCCAACGTCCAGATGTTCCTGCAGCAGCCAGCTGTAT
CCCTGAGCTTCAGCAGCACCCAGCGACCTGAGGCTCAGCAGCAGCTACAGCAAAGGTCAGCTGCAGTGACTCAGCCCCAGCTCGGGGCGG
GCCCCCAACTTCCAGGGCAGATCTCCTCTGCCCAGGTCACAAGCCAGCACCTGCTCAGAGAATCAAGTGTGATATCAACCCAGGGTCCAA
AGCCAATGAGAAGCTCACAGCTAATGCAGAGCAGCGGCCGCTCTGGAAGCAGCCTAGTGTCCCCGTTCAGCAGCGCCACAGCTGCGCTCC
CGCCAAGTCTGAATCTGACCACACCTGCTTCCACCTCCCAGGATGCCAGCCAGTGCCAGCCCAGCCCAGACTTCAGCCATGATCGGCAGC
TCAGGCTGTTGCTGAGCCAGCCCATCCAGCCCATGATGCCCGGGTCCTGTGACGCAAGGCAGCCCTCGGAAGTCAGCAGGACGGGACGGC
AAGTCAAGTACGCCCAGAGCCAGACCGTGTTTCAAAATCCAGACGCACACCCCGCCAACAGCAGCAGCGCCCCGATGCCCGTCCTGCTGA
TGGGGCAGGCGGTGCTCCACCCCAGCTTCCCTGCCTCCCAACCATCGCCCCTGCAGCCTGCACAGGCCCGGCAGCAGCCACCGCAGCACT
ACCTGCAGGTACAGGCACCAACCTCTTTGCACAGTGAGCAGCAGGACTCGCTACTTCTCTCCACCTACTCACAACAGCCAGGGACCCTGG
GCTACCCCCAACCACCCCCAGCACAGCCCCAGCCCCTACGTCCTCCCCGAAGGGTCAGCAGTCTGTCTGAGTCGTCAGGCCTCCAGCAGC
CGCCCCGATAATGCCCCGGCACTGAAGTCGGGACACAATCAGCTTTAACCAATGGATGAGGGGGGTGGCCACAGGAGATGGGGAGAGGAG
TCTGAACTAAACCCCTGGCTTTTGTGCACACTGCATACGTTTCAGAACTCCTGGATGGTAACCATCTCTGGAGTGCAGCGCTTGCTGCAG
TGGAAATGATCAGGAATACTGACCGTGTTTCTCTTGCCTCCGAGGTTCTTGGGCACACTCTATAGCCATACTGGACAGGAACCAGGTGCC
CCGTGTAGGCATCGTCGGTCGGTTTGCCGTCAGAGATGGCGCATCTCGCTGCATCCCCCGAGAGTACACCGGTTGCTCTAGCCACCTGCG
GCCCGCCCATCTGCGCTAGCTGGCCTTCACGCTCTTGATCGTCTTTCCTTTGTATTGGAGAAGGACTGGGTCAGAGATCTGTTGGAGAGA
GAGAATAAAGAGATTATTTTTCATTATTTTTAAATGGTTGTTTTTGTTTTAATTTGCACAGCTACACAGAGGAAATAACTTAGGCACTTT
CTGTTTTTTTTAAAAAAATAATAAGGTCTCATGGCTTCATTTAGAGACCACAGTAACAACAGCAGCCCACCAATCAGAGAAGCTGGTTGT
TATTAACCAAGCTACAGATTCACACTTTCTGGCCTAAACCCTAATGGGATGAGGCTTTTCACCCCAGGCCATGCTGGTGGTGATTTTTTA
GCCCCTAAATAAAACACTGGACTATTTCCTGTTTACTTCATTGATTGCAACTACAAAGGTGGACTCAAAGCAAAGCACAATCATGCCAGC
CAACATTCCAGAATTCTGCTGAGAACTCCAAGTCTGTGAGGGGAGAGGTTTTACAAGCCAGACAGGCCTGGGGGACTGCAGTCCCCAAGG
AGACCCTGCCACATGCTGGCCCTTTGAGTGAGAATGCTGCATCTTTCTACATATCTTCATGAGAATACTGAGAATTGGATTTTCCTTTTC
AAAATGCACTTTGCTTTTTTTGTATGTTTTGTTATGTTGAGATGTTTCTAAAGAAAAGATTTTATGTAATTATAAGATGAAGCGTAGTGA
ATTGTACAGCTGTTGTAATAATGACCTATTTCTATATAAAATAAAATTGTATGGCTTATGTGTAAATTATTTTGTATCTGAGATACCAGT

>83827_83827_3_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000338426_NPAS2_chr2_101580519_ENST00000335681_length(amino acids)=655AA_BP=28
MSRMGKPIETQKSPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEW
KFLFLDHRAPPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHS
VVSYADVRVERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEAST
PALPRSATLPQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHK
IQEQLCLVQDSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQL
MQSSGRSGSSLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQ
TVFQNPDAHPANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPA

--------------------------------------------------------------
>83827_83827_4_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000338426_NPAS2_chr2_101580519_ENST00000542504_length(transcript)=2134nt_BP=204nt
AAAAGAACGAAGTCCAGCACCAAAACGTGCTACAACATGGATGAACTTCGATGACTTTGTGCCACATGAAAGAAGAAGCCAGCCACAAAA
GGCCATATATTGTATGAAATGAAATGTCCAGAATGGGCAAACCCATAGAGACACAAAAATCTCCGCCACCTCCCTACTCTCGGCTGTCTC
CTCGCGACGAGTACAAGCCACTGGTGCCTAGCCCCTCCTGTAATGGTTTTGACAACACCCTTTCAAGACCTTGCCGGGTGCCACTAGGAA
AGGAGGTTTGCTTCATTGCCACCGTTCGTCTGGCAACACCACAATTCTTAAAGGAAATGTGCATAGTTGACGAACCTTTAGAGGAATTCA
CTTCAAGGCATAGCTTGGAATGGAAATTTTTATTTCTGGATCACAGAGCACCTCCAATCATAGGATACCTGCCTTTTGAAGTGCTGGGAA
CCTCAGGCTATGACTACTACCACATTGATGACCTGGAGCTCCTGGCCAGGTGTCACCAGCACCTGATGCAGTTTGGCAAAGGGAAGTCGT
GTTGCTACCGGTTTCTGACCAAAGGTCAGCAGTGGATCTGGCTGCAGACTCACTACTACATCACCTACCATCAGTGGAACTCCAAGCCCG
AGTTCATCGTGTGCACACACTCGGTGGTCAGTTACGCAGATGTCCGGGTGGAAAGGAGGCAGGAGCTGGCTCTGGAAGACCCGCCATCCG
AGGCCCTCCACTCCTCAGCACTAAAGGACAAGGGCTCAAGCCTGGAACCTCGGCAGCACTTTAACACACTCGACGTGGGTGCCTCGGGCC
TTAATACCAGTCATTCGCCATCGGCGTCCTCAAGAAGTTCCCACAAATCCTCGCACACAGCCATGTCAGAACCCACCTCCACTCCCACCA
AGCTGATGGCAGAGGCCAGCACCCCGGCTTTGCCAAGATCAGCCACCCTGCCCCAAGAGTTACCTGTCCCCGGGCTCAGCCAGGCAGCCA
CCATGCCGGCCCCTCTGCCTTCCCCATCGTCCTGCGACCTCACACAGCAGCTCCTGCCTCAGACCGTTCTGCAGAGCACGCCCGCTCCCA
TGGCACAGTTTTCGGCACAGTTCAGCATGTTCCAGACCATCAAAGACCAGCTAGAGCAGCGGACGCGGATCCTGCAGGCCAATATCCGGT
GGCAACAGGAAGAGCTCCACAAGATCCAGGAGCAGCTCTGCCTGGTCCAGGACTCCAACGTCCAGATGTTCCTGCAGCAGCCAGCTGTAT
CCCTGAGCTTCAGCAGCACCCAGCGACCTGAGGCTCAGCAGCAGCTACAGCAAAGGTCAGCTGCAGTGACTCAGCCCCAGCTCGGGGCGG
GCCCCCAACTTCCAGGGCAGATCTCCTCTGCCCAGGTCACAAGCCAGCACCTGCTCAGAGAATCAAGTGTGATATCAACCCAGGGTCCAA
AGCCAATGAGAAGCTCACAGCTAATGCAGAGCAGCGGCCGCTCTGGAAGCAGCCTAGTGTCCCCGTTCAGCAGCGCCACAGCTGCGCTCC
CGCCAAGTCTGAATCTGACCACACCTGCTTCCACCTCCCAGGATGCCAGCCAGTGCCAGCCCAGCCCAGACTTCAGCCATGATCGGCAGC
TCAGGCTGTTGCTGAGCCAGCCCATCCAGCCCATGATGCCCGGGTCCTGTGACGCAAGGCAGCCCTCGGAAGTCAGCAGGACGGGACGGC
AAGTCAAGTACGCCCAGAGCCAGACCGTGTTTCAAAATCCAGACGCACACCCCGCCAACAGCAGCAGCGCCCCGATGCCCGTCCTGCTGA
TGGGGCAGGCGGTGCTCCACCCCAGCTTCCCTGCCTCCCAACCATCGCCCCTGCAGCCTGCACAGGCCCGGCAGCAGCCACCGCAGCACT
ACCTGCAGGTACAGGCACCAACCTCTTTGCACAGTGAGCAGCAGGACTCGCTACTTCTCTCCACCTACTCACAACAGCCAGGGACCCTGG
GCTACCCCCAACCACCCCCAGCACAGCCCCAGCCCCTACGTCCTCCCCGAAGGGTCAGCAGTCTGTCTGAGTCGTCAGGCCTCCAGCAGC

>83827_83827_4_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000338426_NPAS2_chr2_101580519_ENST00000542504_length(amino acids)=655AA_BP=28
MSRMGKPIETQKSPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEW
KFLFLDHRAPPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHS
VVSYADVRVERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEAST
PALPRSATLPQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHK
IQEQLCLVQDSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQL
MQSSGRSGSSLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQ
TVFQNPDAHPANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPA

--------------------------------------------------------------
>83827_83827_5_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000457357_NPAS2_chr2_101580519_ENST00000335681_length(transcript)=4921nt_BP=1797nt
CGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTT
GTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTG
GACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTC
GCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCC
TTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAA
AAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTT
TGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAG
CGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTC
CCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCG
CGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCA
CCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGG
AGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCG
GAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGC
GCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCC
CGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCG
ACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCA
AAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGG
GCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGC
CCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACC
CCTACCACTTCAGCCGGCTCTGCGGGCCCGAATCTCCGCCACCTCCCTACTCTCGGCTGTCTCCTCGCGACGAGTACAAGCCACTGGTGC
CTAGCCCCTCCTGTAATGGTTTTGACAACACCCTTTCAAGACCTTGCCGGGTGCCACTAGGAAAGGAGGTTTGCTTCATTGCCACCGTTC
GTCTGGCAACACCACAATTCTTAAAGGAAATGTGCATAGTTGACGAACCTTTAGAGGAATTCACTTCAAGGCATAGCTTGGAATGGAAAT
TTTTATTTCTGGATCACAGAGCACCTCCAATCATAGGATACCTGCCTTTTGAAGTGCTGGGAACCTCAGGCTATGACTACTACCACATTG
ATGACCTGGAGCTCCTGGCCAGGTGTCACCAGCACCTGATGCAGTTTGGCAAAGGGAAGTCGTGTTGCTACCGGTTTCTGACCAAAGGTC
AGCAGTGGATCTGGCTGCAGACTCACTACTACATCACCTACCATCAGTGGAACTCCAAGCCCGAGTTCATCGTGTGCACACACTCGGTGG
TCAGTTACGCAGATGTCCGGGTGGAAAGGAGGCAGGAGCTGGCTCTGGAAGACCCGCCATCCGAGGCCCTCCACTCCTCAGCACTAAAGG
ACAAGGGCTCAAGCCTGGAACCTCGGCAGCACTTTAACACACTCGACGTGGGTGCCTCGGGCCTTAATACCAGTCATTCGCCATCGGCGT
CCTCAAGAAGTTCCCACAAATCCTCGCACACAGCCATGTCAGAACCCACCTCCACTCCCACCAAGCTGATGGCAGAGGCCAGCACCCCGG
CTTTGCCAAGATCAGCCACCCTGCCCCAAGAGTTACCTGTCCCCGGGCTCAGCCAGGCAGCCACCATGCCGGCCCCTCTGCCTTCCCCAT
CGTCCTGCGACCTCACACAGCAGCTCCTGCCTCAGACCGTTCTGCAGAGCACGCCCGCTCCCATGGCACAGTTTTCGGCACAGTTCAGCA
TGTTCCAGACCATCAAAGACCAGCTAGAGCAGCGGACGCGGATCCTGCAGGCCAATATCCGGTGGCAACAGGAAGAGCTCCACAAGATCC
AGGAGCAGCTCTGCCTGGTCCAGGACTCCAACGTCCAGATGTTCCTGCAGCAGCCAGCTGTATCCCTGAGCTTCAGCAGCACCCAGCGAC
CTGAGGCTCAGCAGCAGCTACAGCAAAGGTCAGCTGCAGTGACTCAGCCCCAGCTCGGGGCGGGCCCCCAACTTCCAGGGCAGATCTCCT
CTGCCCAGGTCACAAGCCAGCACCTGCTCAGAGAATCAAGTGTGATATCAACCCAGGGTCCAAAGCCAATGAGAAGCTCACAGCTAATGC
AGAGCAGCGGCCGCTCTGGAAGCAGCCTAGTGTCCCCGTTCAGCAGCGCCACAGCTGCGCTCCCGCCAAGTCTGAATCTGACCACACCTG
CTTCCACCTCCCAGGATGCCAGCCAGTGCCAGCCCAGCCCAGACTTCAGCCATGATCGGCAGCTCAGGCTGTTGCTGAGCCAGCCCATCC
AGCCCATGATGCCCGGGTCCTGTGACGCAAGGCAGCCCTCGGAAGTCAGCAGGACGGGACGGCAAGTCAAGTACGCCCAGAGCCAGACCG
TGTTTCAAAATCCAGACGCACACCCCGCCAACAGCAGCAGCGCCCCGATGCCCGTCCTGCTGATGGGGCAGGCGGTGCTCCACCCCAGCT
TCCCTGCCTCCCAACCATCGCCCCTGCAGCCTGCACAGGCCCGGCAGCAGCCACCGCAGCACTACCTGCAGGTACAGGCACCAACCTCTT
TGCACAGTGAGCAGCAGGACTCGCTACTTCTCTCCACCTACTCACAACAGCCAGGGACCCTGGGCTACCCCCAACCACCCCCAGCACAGC
CCCAGCCCCTACGTCCTCCCCGAAGGGTCAGCAGTCTGTCTGAGTCGTCAGGCCTCCAGCAGCCGCCCCGATAATGCCCCGGCACTGAAG
TCGGGACACAATCAGCTTTAACCAATGGATGAGGGGGGTGGCCACAGGAGATGGGGAGAGGAGTCTGAACTAAACCCCTGGCTTTTGTGC
ACACTGCATACGTTTCAGAACTCCTGGATGGTAACCATCTCTGGAGTGCAGCGCTTGCTGCAGTGGAAATGATCAGGAATACTGACCGTG
TTTCTCTTGCCTCCGAGGTTCTTGGGCACACTCTATAGCCATACTGGACAGGAACCAGGTGCCCCGTGTAGGCATCGTCGGTCGGTTTGC
CGTCAGAGATGGCGCATCTCGCTGCATCCCCCGAGAGTACACCGGTTGCTCTAGCCACCTGCGGCCCGCCCATCTGCGCTAGCTGGCCTT
CACGCTCTTGATCGTCTTTCCTTTGTATTGGAGAAGGACTGGGTCAGAGATCTGTTGGAGAGAGAGAATAAAGAGATTATTTTTCATTAT
TTTTAAATGGTTGTTTTTGTTTTAATTTGCACAGCTACACAGAGGAAATAACTTAGGCACTTTCTGTTTTTTTTAAAAAAATAATAAGGT
CTCATGGCTTCATTTAGAGACCACAGTAACAACAGCAGCCCACCAATCAGAGAAGCTGGTTGTTATTAACCAAGCTACAGATTCACACTT
TCTGGCCTAAACCCTAATGGGATGAGGCTTTTCACCCCAGGCCATGCTGGTGGTGATTTTTTAGCCCCTAAATAAAACACTGGACTATTT
CCTGTTTACTTCATTGATTGCAACTACAAAGGTGGACTCAAAGCAAAGCACAATCATGCCAGCCAACATTCCAGAATTCTGCTGAGAACT
CCAAGTCTGTGAGGGGAGAGGTTTTACAAGCCAGACAGGCCTGGGGGACTGCAGTCCCCAAGGAGACCCTGCCACATGCTGGCCCTTTGA
GTGAGAATGCTGCATCTTTCTACATATCTTCATGAGAATACTGAGAATTGGATTTTCCTTTTCAAAATGCACTTTGCTTTTTTTGTATGT
TTTGTTATGTTGAGATGTTTCTAAAGAAAAGATTTTATGTAATTATAAGATGAAGCGTAGTGAATTGTACAGCTGTTGTAATAATGACCT
ATTTCTATATAAAATAAAATTGTATGGCTTATGTGTAAATTATTTTGTATCTGAGATACCAGTTCCTTTTCCCAAATATAAAAGTATAAA

>83827_83827_5_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000457357_NPAS2_chr2_101580519_ENST00000335681_length(amino acids)=916AA_BP=289
MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPP
RPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLL
KRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLC
GPESPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEWKFLFLDHRA
PPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHSVVSYADVRV
ERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEASTPALPRSATL
PQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHKIQEQLCLVQ
DSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQLMQSSGRSGS
SLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQTVFQNPDAH
PANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPAQPQPLRPPR

--------------------------------------------------------------
>83827_83827_6_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000457357_NPAS2_chr2_101580519_ENST00000542504_length(transcript)=3727nt_BP=1797nt
CGATCGAGGGAGCTGAGCCGAGAGAAAGAGCCGCCGGGCGCTGCCTCGCCAGACCTCGCTGGGACCCCGGGGCCACCGGGAGGCACTTTT
GTGGAGGGGGGAGGGGGGGCGACCTCGGCAGCCTCGGCGCACGAAGCGTCCGAGGGCAGCGTGGGGCGGGCTGCGACCTCTGCATCGGTG
GACTGCATTTTTAATTAAGGATTCCCAGCAGCTCTTTGGGATTTTTACAGCTTCCACTCATGTGTTGACACCCGCGTCCAGGAGAAACTC
GCTCCAAGTGCATCTAGCGCCTGGGACCTGAGACGGCGTTGGCCTTTCGTGCATGCAAATCCAGGGATTTAGGTTTTGTTTGGGATTTCC
TTTTCTTTCTTTCCTTTTTTTTTTCTTTTTGCAGGGAGTAAGAAGGGAGCTGGGGGTATCAACAAGCCTGCCTTTCGGATCCTGCGGGAA
AAGCCCATGTAGTTAAGCGCTTTGGTTTAAAAAAAAGGCAAGGTAAAGGCAGGGCTTTCCAGACACATTTAGGGGTTCGCGCGAGCGCTT
TGTGCTCATGGACCAGCCGCACAACTTTTGAAGGCTCGCCGGCCCATGTGGGGTCTTTCTGGCGGCGCGCCGCCTGCAGCCCCCCTAAAG
CGCGGGGGCTGGAGTTGTTGAGCAGCCCCGCCGCTGTGGTCCATGTAGCCGCTGGCCGCGCGCGGACTGCGGCTCGGCGTGCGCGTGTTC
CCGGCCGTCCCGCCTCGGCGAGCTCCCTCATGTTGTCGCCCTGCGGCGCCCCTTCGACGACAGGCTGTGCGCGGTCTGCACGGCGCTCCG
CGGCGGAGCTTCATGTGGGGCTGCGACCCGCGCAGCCGGCGCCTCGCTGAGGGAACGGACCCCCGGTAACCGGAGACCGCCTCCCCCCCA
CCCCTGGCGCCAAAGGATATCGTATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCCGACCGGG
AGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGCAGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCG
GAGGCTGCGGCCGCTCCGAAGTCCGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCGGGGAGGC
GCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCTGGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCC
CGGGCTGGCTGCCCGAGAGTGACTGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGACGCCAGCG
ACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAAGCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCA
AAACCGTCACGTACTCGCTGCTGAAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGCGTGCCGG
GCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCGCCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGC
CCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGCTGCAACC
CCTACCACTTCAGCCGGCTCTGCGGGCCCGAATCTCCGCCACCTCCCTACTCTCGGCTGTCTCCTCGCGACGAGTACAAGCCACTGGTGC
CTAGCCCCTCCTGTAATGGTTTTGACAACACCCTTTCAAGACCTTGCCGGGTGCCACTAGGAAAGGAGGTTTGCTTCATTGCCACCGTTC
GTCTGGCAACACCACAATTCTTAAAGGAAATGTGCATAGTTGACGAACCTTTAGAGGAATTCACTTCAAGGCATAGCTTGGAATGGAAAT
TTTTATTTCTGGATCACAGAGCACCTCCAATCATAGGATACCTGCCTTTTGAAGTGCTGGGAACCTCAGGCTATGACTACTACCACATTG
ATGACCTGGAGCTCCTGGCCAGGTGTCACCAGCACCTGATGCAGTTTGGCAAAGGGAAGTCGTGTTGCTACCGGTTTCTGACCAAAGGTC
AGCAGTGGATCTGGCTGCAGACTCACTACTACATCACCTACCATCAGTGGAACTCCAAGCCCGAGTTCATCGTGTGCACACACTCGGTGG
TCAGTTACGCAGATGTCCGGGTGGAAAGGAGGCAGGAGCTGGCTCTGGAAGACCCGCCATCCGAGGCCCTCCACTCCTCAGCACTAAAGG
ACAAGGGCTCAAGCCTGGAACCTCGGCAGCACTTTAACACACTCGACGTGGGTGCCTCGGGCCTTAATACCAGTCATTCGCCATCGGCGT
CCTCAAGAAGTTCCCACAAATCCTCGCACACAGCCATGTCAGAACCCACCTCCACTCCCACCAAGCTGATGGCAGAGGCCAGCACCCCGG
CTTTGCCAAGATCAGCCACCCTGCCCCAAGAGTTACCTGTCCCCGGGCTCAGCCAGGCAGCCACCATGCCGGCCCCTCTGCCTTCCCCAT
CGTCCTGCGACCTCACACAGCAGCTCCTGCCTCAGACCGTTCTGCAGAGCACGCCCGCTCCCATGGCACAGTTTTCGGCACAGTTCAGCA
TGTTCCAGACCATCAAAGACCAGCTAGAGCAGCGGACGCGGATCCTGCAGGCCAATATCCGGTGGCAACAGGAAGAGCTCCACAAGATCC
AGGAGCAGCTCTGCCTGGTCCAGGACTCCAACGTCCAGATGTTCCTGCAGCAGCCAGCTGTATCCCTGAGCTTCAGCAGCACCCAGCGAC
CTGAGGCTCAGCAGCAGCTACAGCAAAGGTCAGCTGCAGTGACTCAGCCCCAGCTCGGGGCGGGCCCCCAACTTCCAGGGCAGATCTCCT
CTGCCCAGGTCACAAGCCAGCACCTGCTCAGAGAATCAAGTGTGATATCAACCCAGGGTCCAAAGCCAATGAGAAGCTCACAGCTAATGC
AGAGCAGCGGCCGCTCTGGAAGCAGCCTAGTGTCCCCGTTCAGCAGCGCCACAGCTGCGCTCCCGCCAAGTCTGAATCTGACCACACCTG
CTTCCACCTCCCAGGATGCCAGCCAGTGCCAGCCCAGCCCAGACTTCAGCCATGATCGGCAGCTCAGGCTGTTGCTGAGCCAGCCCATCC
AGCCCATGATGCCCGGGTCCTGTGACGCAAGGCAGCCCTCGGAAGTCAGCAGGACGGGACGGCAAGTCAAGTACGCCCAGAGCCAGACCG
TGTTTCAAAATCCAGACGCACACCCCGCCAACAGCAGCAGCGCCCCGATGCCCGTCCTGCTGATGGGGCAGGCGGTGCTCCACCCCAGCT
TCCCTGCCTCCCAACCATCGCCCCTGCAGCCTGCACAGGCCCGGCAGCAGCCACCGCAGCACTACCTGCAGGTACAGGCACCAACCTCTT
TGCACAGTGAGCAGCAGGACTCGCTACTTCTCTCCACCTACTCACAACAGCCAGGGACCCTGGGCTACCCCCAACCACCCCCAGCACAGC
CCCAGCCCCTACGTCCTCCCCGAAGGGTCAGCAGTCTGTCTGAGTCGTCAGGCCTCCAGCAGCCGCCCCGATAATGCCCCGGCACTGAAG

>83827_83827_6_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000457357_NPAS2_chr2_101580519_ENST00000542504_length(amino acids)=916AA_BP=289
MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPP
RPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLL
KRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLC
GPESPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEWKFLFLDHRA
PPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHSVVSYADVRV
ERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEASTPALPRSATL
PQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHKIQEQLCLVQ
DSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQLMQSSGRSGS
SLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQTVFQNPDAH
PANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPAQPQPLRPPR

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

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Fusion Gene PPI Analysis for SMAD6-NPAS2


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 SMAD6-NPAS2


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 SMAD6-NPAS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMAD6C0149630Bicuspid aortic valve2CTD_human;ORPHANET
HgeneSMAD6C3542024AORTIC VALVE DISEASE 22CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneSMAD6C4479496CRANIOSYNOSTOSIS 72GENOMICS_ENGLAND;UNIPROT
HgeneSMAD6C0158761Radioulnar Synostosis1GENOMICS_ENGLAND
HgeneSMAD6C0265534Scaphycephaly1CTD_human;GENOMICS_ENGLAND
HgeneSMAD6C0428791Aortic valve calcification1ORPHANET
HgeneSMAD6C1260873Aortic valve disorder1ORPHANET
HgeneSMAD6C1860819Metopic synostosis1CTD_human;GENOMICS_ENGLAND
HgeneSMAD6C3887892Aortic Valve Disease 11ORPHANET
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0085159Seasonal Affective Disorder4PSYGENET
TgeneC0011581Depressive disorder2PSYGENET
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0011570Mental Depression1PSYGENET
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0036337Schizoaffective Disorder1PSYGENET
TgeneC0036341Schizophrenia1PSYGENET