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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:ESYT1-MED14 (FusionGDB2 ID:27596)

Fusion Gene Summary for ESYT1-MED14

check button Fusion gene summary
Fusion gene informationFusion gene name: ESYT1-MED14
Fusion gene ID: 27596
HgeneTgene
Gene symbol

ESYT1

MED14

Gene ID

23344

9282

Gene nameextended synaptotagmin 1mediator complex subunit 14
SynonymsFAM62A|MBC2CRSP150|CRSP2|CSRP|CXorf4|DRIP150|EXLM1|RGR1|TRAP170
Cytomap

12q13.2

Xp11.4

Type of geneprotein-codingprotein-coding
Descriptionextended synaptotagmin-1extended synaptotagmin like protein 1extended synaptotagmin protein 1family with sequence similarity 62 (C2 domain containing), member Amembrane-bound C2 domain-containing proteinmediator of RNA polymerase II transcription subunit 14ARC150CRSP complex subunit 2RGR1 homologactivator-recruited cofactor 150 kDa componentcofactor required for Sp1 transcriptional activation, subunit 2 (150kD)hRGR1human homolog of yeast RGR1thyr
Modification date2020031320200313
UniProtAcc

Q9BSJ8

O60244

Ensembl transtripts involved in fusion geneENST00000550878, ENST00000267113, 
ENST00000394048, ENST00000541590, 
ENST00000324817, ENST00000496531, 
Fusion gene scores* DoF score4 X 4 X 3=484 X 4 X 2=32
# samples 44
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ESYT1 [Title/Abstract] AND MED14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointESYT1(56532797)-MED14(40514312), # samples:3
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneMED14

GO:0006367

transcription initiation from RNA polymerase II promoter

12218053

TgeneMED14

GO:0045893

positive regulation of transcription, DNA-templated

10198638

TgeneMED14

GO:0045944

positive regulation of transcription by RNA polymerase II

12037571


check buttonFusion gene breakpoints across ESYT1 (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 MED14 (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
ChimerDB4LUADTCGA-86-7954-01AESYT1chr12

56532797

-MED14chrX

40514312

-
ChimerDB4LUADTCGA-86-7954-01AESYT1chr12

56532797

+MED14chrX

40514312

-


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Fusion Gene ORF analysis for ESYT1-MED14

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000550878ENST00000324817ESYT1chr12

56532797

+MED14chrX

40514312

-
3UTR-intronENST00000550878ENST00000496531ESYT1chr12

56532797

+MED14chrX

40514312

-
5CDS-intronENST00000267113ENST00000496531ESYT1chr12

56532797

+MED14chrX

40514312

-
5CDS-intronENST00000394048ENST00000496531ESYT1chr12

56532797

+MED14chrX

40514312

-
5CDS-intronENST00000541590ENST00000496531ESYT1chr12

56532797

+MED14chrX

40514312

-
In-frameENST00000267113ENST00000324817ESYT1chr12

56532797

+MED14chrX

40514312

-
In-frameENST00000394048ENST00000324817ESYT1chr12

56532797

+MED14chrX

40514312

-
In-frameENST00000541590ENST00000324817ESYT1chr12

56532797

+MED14chrX

40514312

-

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)
ENST00000394048ESYT1chr1256532797+ENST00000324817MED14chrX40514312-6749285623132481005
ENST00000267113ESYT1chr1256532797+ENST00000324817MED14chrX40514312-656826752030671015
ENST00000541590ESYT1chr1256532797+ENST00000324817MED14chrX40514312-656826752030671015

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
ENST00000394048ENST00000324817ESYT1chr1256532797+MED14chrX40514312-0.0002337040.9997663
ENST00000267113ENST00000324817ESYT1chr1256532797+MED14chrX40514312-8.20E-050.999918
ENST00000541590ENST00000324817ESYT1chr1256532797+MED14chrX40514312-8.20E-050.999918

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Fusion Genomic Features for ESYT1-MED14


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
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.

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Fusion Protein Features for ESYT1-MED14


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/chr12:56532797/chrX:40514312)
- 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
ESYT1

Q9BSJ8

MED14

O60244

FUNCTION: Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. {ECO:0000250, ECO:0000269|PubMed:23791178, ECO:0000269|PubMed:24183667}.FUNCTION: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. {ECO:0000269|PubMed:15340088, ECO:0000269|PubMed:15625066, ECO:0000269|PubMed:16595664}.

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
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+243191_1168741115.0Coiled coilOntology_term=ECO:0000255
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+243191_1168641105.0Coiled coilOntology_term=ECO:0000255
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+243291_116874975.3333333333334Coiled coilOntology_term=ECO:0000255
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+2431135_3138741115.0DomainSMP-LTD
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+2431312_4338741115.0DomainC2 1
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+2431460_5808741115.0DomainC2 2
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+2431627_7518741115.0DomainC2 3
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+2431135_3138641105.0DomainSMP-LTD
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+2431312_4338641105.0DomainC2 1
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+2431460_5808641105.0DomainC2 2
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+2431627_7518641105.0DomainC2 3
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+2432135_313874975.3333333333334DomainSMP-LTD
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+2432312_433874975.3333333333334DomainC2 1
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+2432460_580874975.3333333333334DomainC2 2
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+2432627_751874975.3333333333334DomainC2 3
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+24311_388741115.0Topological domainCytoplasmic
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+243160_628741115.0Topological domainLumenal
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+24311_388641105.0Topological domainCytoplasmic
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+243160_628641105.0Topological domainLumenal
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+24321_38874975.3333333333334Topological domainCytoplasmic
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+243260_62874975.3333333333334Topological domainLumenal
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+243139_598741115.0TransmembraneHelical
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+243163_838741115.0TransmembraneHelical
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+243139_598641105.0TransmembraneHelical
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+243163_838641105.0TransmembraneHelical
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+243239_59874975.3333333333334TransmembraneHelical
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+243263_83874975.3333333333334TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+24311012_10158741115.0Compositional biasNote=Poly-Leu
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+2431924_9358741115.0Compositional biasNote=Poly-Ser
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+24311012_10158641105.0Compositional biasNote=Poly-Leu
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+2431924_9358641105.0Compositional biasNote=Poly-Ser
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+24321012_1015874975.3333333333334Compositional biasNote=Poly-Leu
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+2432924_935874975.3333333333334Compositional biasNote=Poly-Ser
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+2431777_8998741115.0DomainC2 4
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+2431971_10938741115.0DomainC2 5
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+2431777_8998641105.0DomainC2 4
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+2431971_10938641105.0DomainC2 5
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+2432777_899874975.3333333333334DomainC2 4
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+2432971_1093874975.3333333333334DomainC2 5
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+24311018_10258741115.0RegionRequired for phosphatidylinositol 4%2C5-bisphosphate-dependent location at the cell membrane
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+24311018_10258641105.0RegionRequired for phosphatidylinositol 4%2C5-bisphosphate-dependent location at the cell membrane
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+24321018_1025874975.3333333333334RegionRequired for phosphatidylinositol 4%2C5-bisphosphate-dependent location at the cell membrane
HgeneESYT1chr12:56532797chrX:40514312ENST00000267113+243184_11048741115.0Topological domainCytoplasmic
HgeneESYT1chr12:56532797chrX:40514312ENST00000394048+243184_11048641105.0Topological domainCytoplasmic
HgeneESYT1chr12:56532797chrX:40514312ENST00000541590+243284_1104874975.3333333333334Topological domainCytoplasmic
TgeneMED14chr12:56532797chrX:40514312ENST0000032481727311002_116513241455.0Compositional biasNote=Pro-rich
TgeneMED14chr12:56532797chrX:40514312ENST0000032481727311182_118613241455.0MotifNote=LXXLL motif 2
TgeneMED14chr12:56532797chrX:40514312ENST00000324817273169_7313241455.0MotifNote=LXXLL motif 1


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Fusion Gene Sequence for ESYT1-MED14


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.
>27596_27596_1_ESYT1-MED14_ESYT1_chr12_56532797_ENST00000267113_MED14_chrX_40514312_ENST00000324817_length(transcript)=6568nt_BP=2675nt
AGGCAACCTCCAGCCAGTCCCTGGGTCGGGCGGATCCTCCCAGAGGTGGCACAATGGAGCGATCTCCAGGAGAGGGCCCCAGCCCCAGCC
CCATGGACCAGCCCTCTGCTCCCTCCGACCCCACTGACCAGCCCCCCGCTGCTCACGCAAAGCCAGACCCAGGTTCTGGGGGCCAACCTG
CTGGCCCTGGCGCGGCGGGTGAGGCCCTGGCGGTGCTGACTTCATTCGGGAGGCGGTTGCTGGTGCTGATACCTGTGTATTTGGCCGGGG
CAGTGGGACTCAGCGTGGGTTTCGTGCTCTTCGGCCTCGCCCTCTACCTGGGCTGGCGCCGGGTCCGCGACGAGAAAGAACGGAGCCTTC
GAGCAGCGAGGCAGCTACTGGACGACGAGGAGCAGCTCACTGCGAAAACTCTCTATATGAGTCATCGAGAGCTACCTGCCTGGGTCAGCT
TCCCAGACGTGGAAAAGGCTGAATGGCTCAATAAGATTGTGGCCCAGGTCTGGCCCTTCCTGGGCCAGTATATGGAGAAGCTTCTGGCTG
AAACTGTGGCTCCGGCTGTTAGGGGATCTAACCCCCATCTGCAAACATTTACATTTACACGAGTGGAACTGGGTGAAAAGCCATTGCGCA
TCATTGGAGTCAAGGTTCACCCAGGTCAGAGAAAAGAGCAGATCCTGCTGGACTTGAACATCAGCTATGTAGGTGATGTGCAGATTGATG
TGGAAGTGAAGAAATATTTTTGCAAAGCAGGAGTCAAGGGCATGCAGCTACATGGCGTTTTGCGGGTGATACTGGAGCCACTCATTGGGG
ACCTTCCCTTCGTGGGGGCTGTGTCAATGTTCTTCATCCGACGCCCGACCCTAGACATCAACTGGACAGGGATGACCAACCTGCTGGATA
TCCCAGGACTTAGCTCACTCTCTGACACCATGATCATGGACTCCATTGCTGCCTTCCTCGTGTTGCCCAACCGATTACTGGTGCCCCTTG
TGCCTGACCTTCAAGATGTGGCTCAGTTGCGTTCCCCTCTGCCCAGGGGCATTATTCGAATTCACCTGCTGGCTGCTCGAGGGCTGAGTT
CCAAGGACAAATATGTGAAGGGCCTGATTGAGGGCAAGTCAGACCCATATGCACTTGTGCGTTTGGGTACCCAGACATTCTGCAGTCGTG
TCATTGATGAAGAACTCAACCCACAGTGGGGAGAGACTTATGAGGTGATGGTACACGAGGTCCCAGGGCAGGAGATTGAAGTGGAGGTGT
TCGACAAGGATCCAGATAAAGATGACTTTCTGGGCAGAATGAAGCTGGATGTAGGGAAGGTGTTACAGGCTAGCGTTCTGGATGATTGGT
TCCCTCTACAAGGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTGTCAGATGCAGAGAAACTGGAGCAGGTTCTAC
AGTGGAATTGGGGAGTCTCCTCTCGACCAGATCCCCCGTCAGCTGCCATCTTAGTTGTCTACCTGGATCGGGCCCAGGATCTTCCTATGG
TGACCTCTGAATTGTACCCACCACAGCTGAAGAAGGGGAACAAGGAACCCAACCCTATGGTACAACTGTCAATTCAGGATGTGACTCAGG
AGAGCAAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATG
TGCAAGTGAAGGATGATTCCAGGGCCCTGACTTTAGGAGCACTGACGCTGCCTCTGGCCCGCCTGCTGACTGCCCCAGAACTCATCCTGG
ACCAGTGGTTCCAGCTCAGCAGCTCTGGTCCAAACTCCAGACTCTATATGAAACTAGTCATGAGGATCCTGTACTTGGATTCATCAGAAA
TATGCTTCCCCACGGTGCCTGGTTGTCCTGGTGCTTGGGACGTGGACAGTGAGAATCCCCAGAGAGGCAGCAGTGTGGATGCCCCACCTC
GACCCTGTCACACGACTCCTGATAGCCAGTTTGGGACTGAGCATGTGCTTCGGATCCATGTATTAGAGGCCCAGGACCTGATTGCCAAAG
ACCGTTTCTTGGGGGGACTGGTGAAGGGCAAGTCAGACCCCTATGTCAAACTAAAGTTGGCAGGACGAAGCTTCCGGAGCCATGTTGTTC
GGGAAGATCTCAATCCCCGCTGGAATGAGGTTTTTGAGGTGATCGTCACATCAGTTCCAGGCCAAGAGCTAGAGGTTGAAGTCTTTGACA
AGGACTTGGACAAGGATGATTTTCTGGGCAGGTGTAAAGTGCGTCTCACCACAGTCTTAAACAGTGGCTTCCTTGATGAGTGGCTGACCC
TGGAGGATGTCCCATCTGGCCGCCTGCACTTGCGCCTGGAGCGTCTCACCCCCCGTCCCACTGCTGCTGAGTTAGAGGAGGTGCTGCAGG
TGAATAGTTTGATCCAGACTCAGAAGAGTGCGGAGCTGGCTGCGGCCCTGCTATCCATCTATATGGAGCGGGCAGAGGACCTCCCGCTGC
GAAAAGGCACCAAGCACCTCAGCCCTTATGCTACTCTCACTGTGGGAGATAGTTCTCATAAAACCAAGACTATTTCGCAAACTTCAGCCC
CTGTCTGGGATGAGAGTGCCTCCTTTCTCATCAGGAAACCACACACTGAGAGCCTAGAGTTGCAGTTCCCTGACCAAGCAACACAGCTAA
AATGGAATGTTCAGTTTTGCCTGACGATCCCTCCCAGCGCGCCGCCGATTGCACCTCCTGGGACGCCTGCTGTGGTGCTGAAATCCAAAA
TGCTATTTTTTCTTCAACTAACTCAGAAAACATCGGTCCCTCCCCAAGAACCTGTTAGTATTATAGTTCCAATCATTTATGACATGGCTT
CAGGTACAACCCAGCAGGCAGACATTCCCAGACAGCAGAACTCTTCTGTTGCTGCTCCCATGATGGTCAGCAACATTCTGAAGAGGTTTG
CAGAGATGAATCCACCACGACAAGGTGAATGCACAATATTTGCAGCTGTTCGTGATTTAATGGCTAATCTTACACTGCCCCCTGGTGGGC
GTCCATAGACACTATTGTTTTTAAACCAGGAAGGCTGACAGATGAGACAACAAAAAAAATCTGAATTCAGCCTTCAGTTTAAAAAAGGAA
AAGGACTTTTTTTTTAAACTTTAAGAGCTAAATATTCTAAACTGGCAAAAATTTTCAGGGTGCACTTCTTTCATCAAAATGATCATCCAT
CTTTTGTATAATGAACTTGTATAGTGTGTTTAAATGGGACACATTTCAAAGGAAATAAATCAGTGTCCGTTTGCCAGTAATAAATTTAAT
ATTCTGTTTTATACTATAAAGTTATGAAAATGCCAAACTTGTTTATTTAATTGTTTTCTTATGTTTTGGGTGTAATAGTCCTTTTTTGGT
TTTTGTTTTGTTTTTTAAGGCAGGTCTGTCATTTTTGAATACTGTAAAACTGTGATAAACTTTATATTGAAGCTGTATTTTAATATGACC
GCTTTGAATCCTTACATGAAATGTTCTGGGAGTTGTTATAAACACACCCCAAGGAAGCAATATTTAATAAAACTAGGTCAAAAACAAAAC
AAAACAGTGACACTCACTTGTGTGTATATAAACTCTAGAGACATCTTAGGCCCTCCCTTCATCTTTAACCTGGTGGATGGAGCCAGTTAT
TAATTTATAATAATACATGTCTGAAATTTGACCAAAAACATCTTCTTTATGTCAAGGTTAATATATTTTCTTCAGACATTCCTAACTTGA
CTAGTGGTTAACATTTAGCACCTTGGTTGTCTTTCAATATATAGGATTTGGGTGAAAAATAAGGAACTTAGTCTTTGAGAAGGGACAGTA
TGTGGTTCGTATTGATCAAGGATCCCAAATAATGCAATCATTCTCATCTGTTGAGGATGTGGGAACTTTTCTGTCAGGAAAATTTAGTTT
ACAGAATACTTCTGCATACAACATTAATTAGGAAACAAAGAACTTTAATGCTGTACCTCTGCATGAAGTTTCTGTGAGCTTTCTTTATCT
TGCTTAACTTATCCTCCTTTCCTTCCCCACCAAAATTGGGATTGTTCTAAACAATTTCAATTTAATTCATTGTCAACAAAACGATAGAAT
GTTTTGCTTGGAAGAAACCTGGTCCATTCCCCTCATTGTGAAGAATCCCGAATCCTGGGCCTGTCCAGGGTCAAATGGAGTTTTTGGTAT
TAATACATCTCTGCAGGGTTTCTTTTTGGAGCACTGTGCTGTCTTTCCTAGTCAGTCAGGGACTTTTTTAAGCTTCAAAGAACATGGTCT
GATGCAAAGGTCTTCTACCGACTTCATGGTATTTAGGAAAAATTTTTAAGTGATAATACCATGCCGAGTTACCTGGTCACTGTAATACTG
GTTCTCCATTAAAATGTAGATGCTTTGTCTAATTCCACTTCAAGATGATTTAATTGAGCTTCTATAACTATCAACTATCAAATTCTAGTT
TCAAGTATCTCACTGTACCTATATCATATCTGTTCTCAACTTTGTTTGATTCTCCACTCATTTTCAATCAGAGTTGAAGCCTTCTTTGCC
TTTCTTCTTTGTCTTATTTCTGCCTTCATCTCCCACTTCTCACCCAACTCTGCCACTGTTCAGGAGCAGTTGACTAAACTTTTATCCTTC
CTTTAACTTAATCTTTTTATCCTTCTGTTTTTAGTTCTTACAGTGGTAATCACATCAGTTTGGCAATCTAAGATGTCTTTATCAAGGGTC
AGCCCTTTTCTATTTGGAGCTGAATCTTTTCTTTCATGTAGAAATCTACATGTATATACAAGAAATGTATTTTTATCTGCAGGATAATAT
TGTTTCAAATAATTTTATTAAGAGTTAACTTTTTAGGTATTTTCCCTTTTAATGTGGTTTTGAAATGTTAATTGCATTTTTACACATGAT
GCATTCAGTGGACACTCTTTTTTCCTAATTATAACTCATCTCTGAATGCATTGTGCCAATCAAGAGTAAGATAGGATTCAGTGCGCAAAA
TTTGCTTTTGATGCTTATTAAGAGTAAACCCATGAATTTGAATTTTTATATTATGCTTGGTACTTGGAATTGATATATACCTTATTAAAG
CTTGAAAACATTTAGCATTTGAATAGTAAGTTTCATCACAAATCATGTCTTTTGCCTCTTTTGTTACCCAGGTTCGATCAAGGGGACTGG
ATGCCCAAGTGATTTTCTCTAATAATCGGGTTGGGACTTAACTTTAAGGTGTTTTCAATGTGATTTTAGTATTTACAGTAATAAATAAAA
TTTATACAAAGTTTCAGAGAACTACCAACTCTCTAGTTAATTTTGATGAAGATGTTTTCATTAATAGTCTGGTTTAGTATTAATTTAACC
TTGAAATAAGAAATTGGTCCTGATTTGCCACCTTCATTTTTCCATCTGCTGAAATGCCATTTCAGAATGTATAAAAGTACTTTCAGAATT
AGAAGAAAAGTGAGAGCTTCAGCAGAACGTGTCAAGTCGCTAATAACAGGAGTCGAACCTTATGTTTGAAAATTAACTGAGTGAGTTAAG
TGCAAGCATAAACTAAAATTTATATGACTTTGAATTTAAGAACCACTAATAACTGTGTTCTAATTAACACAGTAATCTGTTCAGCCAAAG
GATACTAACAGCCATTCTTTGGACTGTGGTTAATTTGATAACTTCAAGAAGTTATAACTTTGCTACCCTGGATTCTGATGCAATTTCAAT
ATAAAAAGTTGTTCCTTTCATAGTTTTTCCCCCCAAAAGAAGTGCCTATTACATTTTACCTTAATGTTTATTTATCATCCAAGTGTTCTT
GATATAAAATCAGTATACAGAAAATTTTAAGAGAACTTACATTCAAGGGACATAGAGGGAAAATGTTAATGTGTATTTCATTGTTTCTTG
TGGAATTTTTTTTTCATTCGGTTTGAGAATGGACAGTGTGTCTAAGGATGTGATTTAAATTTACTTAGGATGGATTTAGCATTGAGGTTA
TTAAGACAAAGTTAGCAGAGGCCAGCCAGCACTGTGCTGCACAACTCCAGGAACTCCATGGTATGCTCACAATTTTCTGCAAGTTGCCTC
CACTTCCAAGTGGCCAGTGATTTGTTAAAATACCTTGCCCAAGAATATAACTGATTGATGAAAGGGCATATTTAGGTCAATATAAAATAA
TAGCAAGTATTTACTGAGAGCTTACTGTGTGCTAGGCATTTTCTTAATATTTCAATGTGTATTTAATCCTCACAACAACCCAATGTGGTA
GGTTATTGATATCCTCTTCTTAAAAATGAGTAAATGGAGGCCCAGAGAAATGTAATTTGCCTGAGATCAAATTAAGGTTGCTTAAGATCA
AACTGCTAAGAAGGGGCAGTTTGAGTCTGAGCTAGTGCTCCTAAACACTGGACATTTTTGCTGTGAACCACAGTCGGGAAGGTTTAATGT

>27596_27596_1_ESYT1-MED14_ESYT1_chr12_56532797_ENST00000267113_MED14_chrX_40514312_ENST00000324817_length(amino acids)=1015AA_BP=885
MGRADPPRGGTMERSPGEGPSPSPMDQPSAPSDPTDQPPAAHAKPDPGSGGQPAGPGAAGEALAVLTSFGRRLLVLIPVYLAGAVGLSVG
FVLFGLALYLGWRRVRDEKERSLRAARQLLDDEEQLTAKTLYMSHRELPAWVSFPDVEKAEWLNKIVAQVWPFLGQYMEKLLAETVAPAV
RGSNPHLQTFTFTRVELGEKPLRIIGVKVHPGQRKEQILLDLNISYVGDVQIDVEVKKYFCKAGVKGMQLHGVLRVILEPLIGDLPFVGA
VSMFFIRRPTLDINWTGMTNLLDIPGLSSLSDTMIMDSIAAFLVLPNRLLVPLVPDLQDVAQLRSPLPRGIIRIHLLAARGLSSKDKYVK
GLIEGKSDPYALVRLGTQTFCSRVIDEELNPQWGETYEVMVHEVPGQEIEVEVFDKDPDKDDFLGRMKLDVGKVLQASVLDDWFPLQGGQ
GQVHLRLEWLSLLSDAEKLEQVLQWNWGVSSRPDPPSAAILVVYLDRAQDLPMVTSELYPPQLKKGNKEPNPMVQLSIQDVTQESKAVYS
TNCPVWEEAFRFFLQDPQSQELDVQVKDDSRALTLGALTLPLARLLTAPELILDQWFQLSSSGPNSRLYMKLVMRILYLDSSEICFPTVP
GCPGAWDVDSENPQRGSSVDAPPRPCHTTPDSQFGTEHVLRIHVLEAQDLIAKDRFLGGLVKGKSDPYVKLKLAGRSFRSHVVREDLNPR
WNEVFEVIVTSVPGQELEVEVFDKDLDKDDFLGRCKVRLTTVLNSGFLDEWLTLEDVPSGRLHLRLERLTPRPTAAELEEVLQVNSLIQT
QKSAELAAALLSIYMERAEDLPLRKGTKHLSPYATLTVGDSSHKTKTISQTSAPVWDESASFLIRKPHTESLELQFPDQATQLKWNVQFC
LTIPPSAPPIAPPGTPAVVLKSKMLFFLQLTQKTSVPPQEPVSIIVPIIYDMASGTTQQADIPRQQNSSVAAPMMVSNILKRFAEMNPPR

--------------------------------------------------------------
>27596_27596_2_ESYT1-MED14_ESYT1_chr12_56532797_ENST00000394048_MED14_chrX_40514312_ENST00000324817_length(transcript)=6749nt_BP=2856nt
ATCTTGGCCTTCGGGCCCAATCAGGGAGGCCCTACCTATCCGAAACCCGGTCCGTTCCCCGCGGAAGAGGGGTGGAGTTTCAACCTTTTA
ACTCCACCTTGGTCTGTGCAGCGCGGACCAACCCAAATCGCCAGAAAGGAGGGGCGTGGCTTGAAGTCCCCTCCTCCATCCCGGGGATCA
CGTTTTGCCTGGGGGAGCTGATCGCAAGACTAGGCAACCTCCAGCCAGTCCCTGGGTCGGGCGGATCCTCCCAGAGGTGGCACAATGGAG
CGATCTCCAGGAGAGGGCCCCAGCCCCAGCCCCATGGACCAGCCCTCTGCTCCCTCCGACCCCACTGACCAGCCCCCCGCTGCTCACGCA
AAGCCAGACCCAGGTTCTGGGGGCCAACCTGCTGGCCCTGGCGCGGCGGGTGAGGCCCTGGCGGTGCTGACTTCATTCGGGAGGCGGTTG
CTGGTGCTGATACCTGTGTATTTGGCCGGGGCAGTGGGACTCAGCGTGGGTTTCGTGCTCTTCGGCCTCGCCCTCTACCTGGGCTGGCGC
CGGGTCCGCGACGAGAAAGAACGGAGCCTTCGAGCAGCGAGGCAGCTACTGGACGACGAGGAGCAGCTCACTGCGAAAACTCTCTATATG
AGTCATCGAGAGCTACCTGCCTGGGTCAGCTTCCCAGACGTGGAAAAGGCTGAATGGCTCAATAAGATTGTGGCCCAGGTCTGGCCCTTC
CTGGGCCAGTATATGGAGAAGCTTCTGGCTGAAACTGTGGCTCCGGCTGTTAGGGGATCTAACCCCCATCTGCAAACATTTACATTTACA
CGAGTGGAACTGGGTGAAAAGCCATTGCGCATCATTGGAGTCAAGGTTCACCCAGGTCAGAGAAAAGAGCAGATCCTGCTGGACTTGAAC
ATCAGCTATGTAGGTGATGTGCAGATTGATGTGGAAGTGAAGAAATATTTTTGCAAAGCAGGAGTCAAGGGCATGCAGCTACATGGCGTT
TTGCGGGTGATACTGGAGCCACTCATTGGGGACCTTCCCTTCGTGGGGGCTGTGTCAATGTTCTTCATCCGACGCCCGACCCTAGACATC
AACTGGACAGGGATGACCAACCTGCTGGATATCCCAGGACTTAGCTCACTCTCTGACACCATGATCATGGACTCCATTGCTGCCTTCCTC
GTGTTGCCCAACCGATTACTGGTGCCCCTTGTGCCTGACCTTCAAGATGTGGCTCAGTTGCGTTCCCCTCTGCCCAGGGGCATTATTCGA
ATTCACCTGCTGGCTGCTCGAGGGCTGAGTTCCAAGGACAAATATGTGAAGGGCCTGATTGAGGGCAAGTCAGACCCATATGCACTTGTG
CGTTTGGGTACCCAGACATTCTGCAGTCGTGTCATTGATGAAGAACTCAACCCACAGTGGGGAGAGACTTATGAGGTGATGGTACACGAG
GTCCCAGGGCAGGAGATTGAAGTGGAGGTGTTCGACAAGGATCCAGATAAAGATGACTTTCTGGGCAGAATGAAGCTGGATGTAGGGAAG
GTGTTACAGGCTAGCGTTCTGGATGATTGGTTCCCTCTACAAGGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTG
TCAGATGCAGAGAAACTGGAGCAGGTTCTACAGTGGAATTGGGGAGTCTCCTCTCGACCAGATCCCCCGTCAGCTGCCATCTTAGTTGTC
TACCTGGATCGGGCCCAGGATCTTCCTCTGAAGAAGGGGAACAAGGAACCCAACCCTATGGTACAACTGTCAATTCAGGATGTGACTCAG
GAGAGCAAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGAT
GTGCAAGTGAAGGATGATTCCAGGGCCCTGACTTTAGGAGCACTGACGCTGCCTCTGGCCCGCCTGCTGACTGCCCCAGAACTCATCCTG
GACCAGTGGTTCCAGCTCAGCAGCTCTGGTCCAAACTCCAGACTCTATATGAAACTAGTCATGAGGATCCTGTACTTGGATTCATCAGAA
ATATGCTTCCCCACGGTGCCTGGTTGTCCTGGTGCTTGGGACGTGGACAGTGAGAATCCCCAGAGAGGCAGCAGTGTGGATGCCCCACCT
CGACCCTGTCACACGACTCCTGATAGCCAGTTTGGGACTGAGCATGTGCTTCGGATCCATGTATTAGAGGCCCAGGACCTGATTGCCAAA
GACCGTTTCTTGGGGGGACTGGTGAAGGGCAAGTCAGACCCCTATGTCAAACTAAAGTTGGCAGGACGAAGCTTCCGGAGCCATGTTGTT
CGGGAAGATCTCAATCCCCGCTGGAATGAGGTTTTTGAGGTGATCGTCACATCAGTTCCAGGCCAAGAGCTAGAGGTTGAAGTCTTTGAC
AAGGACTTGGACAAGGATGATTTTCTGGGCAGGTGTAAAGTGCGTCTCACCACAGTCTTAAACAGTGGCTTCCTTGATGAGTGGCTGACC
CTGGAGGATGTCCCATCTGGCCGCCTGCACTTGCGCCTGGAGCGTCTCACCCCCCGTCCCACTGCTGCTGAGTTAGAGGAGGTGCTGCAG
GTGAATAGTTTGATCCAGACTCAGAAGAGTGCGGAGCTGGCTGCGGCCCTGCTATCCATCTATATGGAGCGGGCAGAGGACCTCCCGCTG
CGAAAAGGCACCAAGCACCTCAGCCCTTATGCTACTCTCACTGTGGGAGATAGTTCTCATAAAACCAAGACTATTTCGCAAACTTCAGCC
CCTGTCTGGGATGAGAGTGCCTCCTTTCTCATCAGGAAACCACACACTGAGAGCCTAGAGTTGCAGTTCCCTGACCAAGCAACACAGCTA
AAATGGAATGTTCAGTTTTGCCTGACGATCCCTCCCAGCGCGCCGCCGATTGCACCTCCTGGGACGCCTGCTGTGGTGCTGAAATCCAAA
ATGCTATTTTTTCTTCAACTAACTCAGAAAACATCGGTCCCTCCCCAAGAACCTGTTAGTATTATAGTTCCAATCATTTATGACATGGCT
TCAGGTACAACCCAGCAGGCAGACATTCCCAGACAGCAGAACTCTTCTGTTGCTGCTCCCATGATGGTCAGCAACATTCTGAAGAGGTTT
GCAGAGATGAATCCACCACGACAAGGTGAATGCACAATATTTGCAGCTGTTCGTGATTTAATGGCTAATCTTACACTGCCCCCTGGTGGG
CGTCCATAGACACTATTGTTTTTAAACCAGGAAGGCTGACAGATGAGACAACAAAAAAAATCTGAATTCAGCCTTCAGTTTAAAAAAGGA
AAAGGACTTTTTTTTTAAACTTTAAGAGCTAAATATTCTAAACTGGCAAAAATTTTCAGGGTGCACTTCTTTCATCAAAATGATCATCCA
TCTTTTGTATAATGAACTTGTATAGTGTGTTTAAATGGGACACATTTCAAAGGAAATAAATCAGTGTCCGTTTGCCAGTAATAAATTTAA
TATTCTGTTTTATACTATAAAGTTATGAAAATGCCAAACTTGTTTATTTAATTGTTTTCTTATGTTTTGGGTGTAATAGTCCTTTTTTGG
TTTTTGTTTTGTTTTTTAAGGCAGGTCTGTCATTTTTGAATACTGTAAAACTGTGATAAACTTTATATTGAAGCTGTATTTTAATATGAC
CGCTTTGAATCCTTACATGAAATGTTCTGGGAGTTGTTATAAACACACCCCAAGGAAGCAATATTTAATAAAACTAGGTCAAAAACAAAA
CAAAACAGTGACACTCACTTGTGTGTATATAAACTCTAGAGACATCTTAGGCCCTCCCTTCATCTTTAACCTGGTGGATGGAGCCAGTTA
TTAATTTATAATAATACATGTCTGAAATTTGACCAAAAACATCTTCTTTATGTCAAGGTTAATATATTTTCTTCAGACATTCCTAACTTG
ACTAGTGGTTAACATTTAGCACCTTGGTTGTCTTTCAATATATAGGATTTGGGTGAAAAATAAGGAACTTAGTCTTTGAGAAGGGACAGT
ATGTGGTTCGTATTGATCAAGGATCCCAAATAATGCAATCATTCTCATCTGTTGAGGATGTGGGAACTTTTCTGTCAGGAAAATTTAGTT
TACAGAATACTTCTGCATACAACATTAATTAGGAAACAAAGAACTTTAATGCTGTACCTCTGCATGAAGTTTCTGTGAGCTTTCTTTATC
TTGCTTAACTTATCCTCCTTTCCTTCCCCACCAAAATTGGGATTGTTCTAAACAATTTCAATTTAATTCATTGTCAACAAAACGATAGAA
TGTTTTGCTTGGAAGAAACCTGGTCCATTCCCCTCATTGTGAAGAATCCCGAATCCTGGGCCTGTCCAGGGTCAAATGGAGTTTTTGGTA
TTAATACATCTCTGCAGGGTTTCTTTTTGGAGCACTGTGCTGTCTTTCCTAGTCAGTCAGGGACTTTTTTAAGCTTCAAAGAACATGGTC
TGATGCAAAGGTCTTCTACCGACTTCATGGTATTTAGGAAAAATTTTTAAGTGATAATACCATGCCGAGTTACCTGGTCACTGTAATACT
GGTTCTCCATTAAAATGTAGATGCTTTGTCTAATTCCACTTCAAGATGATTTAATTGAGCTTCTATAACTATCAACTATCAAATTCTAGT
TTCAAGTATCTCACTGTACCTATATCATATCTGTTCTCAACTTTGTTTGATTCTCCACTCATTTTCAATCAGAGTTGAAGCCTTCTTTGC
CTTTCTTCTTTGTCTTATTTCTGCCTTCATCTCCCACTTCTCACCCAACTCTGCCACTGTTCAGGAGCAGTTGACTAAACTTTTATCCTT
CCTTTAACTTAATCTTTTTATCCTTCTGTTTTTAGTTCTTACAGTGGTAATCACATCAGTTTGGCAATCTAAGATGTCTTTATCAAGGGT
CAGCCCTTTTCTATTTGGAGCTGAATCTTTTCTTTCATGTAGAAATCTACATGTATATACAAGAAATGTATTTTTATCTGCAGGATAATA
TTGTTTCAAATAATTTTATTAAGAGTTAACTTTTTAGGTATTTTCCCTTTTAATGTGGTTTTGAAATGTTAATTGCATTTTTACACATGA
TGCATTCAGTGGACACTCTTTTTTCCTAATTATAACTCATCTCTGAATGCATTGTGCCAATCAAGAGTAAGATAGGATTCAGTGCGCAAA
ATTTGCTTTTGATGCTTATTAAGAGTAAACCCATGAATTTGAATTTTTATATTATGCTTGGTACTTGGAATTGATATATACCTTATTAAA
GCTTGAAAACATTTAGCATTTGAATAGTAAGTTTCATCACAAATCATGTCTTTTGCCTCTTTTGTTACCCAGGTTCGATCAAGGGGACTG
GATGCCCAAGTGATTTTCTCTAATAATCGGGTTGGGACTTAACTTTAAGGTGTTTTCAATGTGATTTTAGTATTTACAGTAATAAATAAA
ATTTATACAAAGTTTCAGAGAACTACCAACTCTCTAGTTAATTTTGATGAAGATGTTTTCATTAATAGTCTGGTTTAGTATTAATTTAAC
CTTGAAATAAGAAATTGGTCCTGATTTGCCACCTTCATTTTTCCATCTGCTGAAATGCCATTTCAGAATGTATAAAAGTACTTTCAGAAT
TAGAAGAAAAGTGAGAGCTTCAGCAGAACGTGTCAAGTCGCTAATAACAGGAGTCGAACCTTATGTTTGAAAATTAACTGAGTGAGTTAA
GTGCAAGCATAAACTAAAATTTATATGACTTTGAATTTAAGAACCACTAATAACTGTGTTCTAATTAACACAGTAATCTGTTCAGCCAAA
GGATACTAACAGCCATTCTTTGGACTGTGGTTAATTTGATAACTTCAAGAAGTTATAACTTTGCTACCCTGGATTCTGATGCAATTTCAA
TATAAAAAGTTGTTCCTTTCATAGTTTTTCCCCCCAAAAGAAGTGCCTATTACATTTTACCTTAATGTTTATTTATCATCCAAGTGTTCT
TGATATAAAATCAGTATACAGAAAATTTTAAGAGAACTTACATTCAAGGGACATAGAGGGAAAATGTTAATGTGTATTTCATTGTTTCTT
GTGGAATTTTTTTTTCATTCGGTTTGAGAATGGACAGTGTGTCTAAGGATGTGATTTAAATTTACTTAGGATGGATTTAGCATTGAGGTT
ATTAAGACAAAGTTAGCAGAGGCCAGCCAGCACTGTGCTGCACAACTCCAGGAACTCCATGGTATGCTCACAATTTTCTGCAAGTTGCCT
CCACTTCCAAGTGGCCAGTGATTTGTTAAAATACCTTGCCCAAGAATATAACTGATTGATGAAAGGGCATATTTAGGTCAATATAAAATA
ATAGCAAGTATTTACTGAGAGCTTACTGTGTGCTAGGCATTTTCTTAATATTTCAATGTGTATTTAATCCTCACAACAACCCAATGTGGT
AGGTTATTGATATCCTCTTCTTAAAAATGAGTAAATGGAGGCCCAGAGAAATGTAATTTGCCTGAGATCAAATTAAGGTTGCTTAAGATC
AAACTGCTAAGAAGGGGCAGTTTGAGTCTGAGCTAGTGCTCCTAAACACTGGACATTTTTGCTGTGAACCACAGTCGGGAAGGTTTAATG

>27596_27596_2_ESYT1-MED14_ESYT1_chr12_56532797_ENST00000394048_MED14_chrX_40514312_ENST00000324817_length(amino acids)=1005AA_BP=875
MGRADPPRGGTMERSPGEGPSPSPMDQPSAPSDPTDQPPAAHAKPDPGSGGQPAGPGAAGEALAVLTSFGRRLLVLIPVYLAGAVGLSVG
FVLFGLALYLGWRRVRDEKERSLRAARQLLDDEEQLTAKTLYMSHRELPAWVSFPDVEKAEWLNKIVAQVWPFLGQYMEKLLAETVAPAV
RGSNPHLQTFTFTRVELGEKPLRIIGVKVHPGQRKEQILLDLNISYVGDVQIDVEVKKYFCKAGVKGMQLHGVLRVILEPLIGDLPFVGA
VSMFFIRRPTLDINWTGMTNLLDIPGLSSLSDTMIMDSIAAFLVLPNRLLVPLVPDLQDVAQLRSPLPRGIIRIHLLAARGLSSKDKYVK
GLIEGKSDPYALVRLGTQTFCSRVIDEELNPQWGETYEVMVHEVPGQEIEVEVFDKDPDKDDFLGRMKLDVGKVLQASVLDDWFPLQGGQ
GQVHLRLEWLSLLSDAEKLEQVLQWNWGVSSRPDPPSAAILVVYLDRAQDLPLKKGNKEPNPMVQLSIQDVTQESKAVYSTNCPVWEEAF
RFFLQDPQSQELDVQVKDDSRALTLGALTLPLARLLTAPELILDQWFQLSSSGPNSRLYMKLVMRILYLDSSEICFPTVPGCPGAWDVDS
ENPQRGSSVDAPPRPCHTTPDSQFGTEHVLRIHVLEAQDLIAKDRFLGGLVKGKSDPYVKLKLAGRSFRSHVVREDLNPRWNEVFEVIVT
SVPGQELEVEVFDKDLDKDDFLGRCKVRLTTVLNSGFLDEWLTLEDVPSGRLHLRLERLTPRPTAAELEEVLQVNSLIQTQKSAELAAAL
LSIYMERAEDLPLRKGTKHLSPYATLTVGDSSHKTKTISQTSAPVWDESASFLIRKPHTESLELQFPDQATQLKWNVQFCLTIPPSAPPI
APPGTPAVVLKSKMLFFLQLTQKTSVPPQEPVSIIVPIIYDMASGTTQQADIPRQQNSSVAAPMMVSNILKRFAEMNPPRQGECTIFAAV

--------------------------------------------------------------
>27596_27596_3_ESYT1-MED14_ESYT1_chr12_56532797_ENST00000541590_MED14_chrX_40514312_ENST00000324817_length(transcript)=6568nt_BP=2675nt
AGGCAACCTCCAGCCAGTCCCTGGGTCGGGCGGATCCTCCCAGAGGTGGCACAATGGAGCGATCTCCAGGAGAGGGCCCCAGCCCCAGCC
CCATGGACCAGCCCTCTGCTCCCTCCGACCCCACTGACCAGCCCCCCGCTGCTCACGCAAAGCCAGACCCAGGTTCTGGGGGCCAACCTG
CTGGCCCTGGCGCGGCGGGTGAGGCCCTGGCGGTGCTGACTTCATTCGGGAGGCGGTTGCTGGTGCTGATACCTGTGTATTTGGCCGGGG
CAGTGGGACTCAGCGTGGGTTTCGTGCTCTTCGGCCTCGCCCTCTACCTGGGCTGGCGCCGGGTCCGCGACGAGAAAGAACGGAGCCTTC
GAGCAGCGAGGCAGCTACTGGACGACGAGGAGCAGCTCACTGCGAAAACTCTCTATATGAGTCATCGAGAGCTACCTGCCTGGGTCAGCT
TCCCAGACGTGGAAAAGGCTGAATGGCTCAATAAGATTGTGGCCCAGGTCTGGCCCTTCCTGGGCCAGTATATGGAGAAGCTTCTGGCTG
AAACTGTGGCTCCGGCTGTTAGGGGATCTAACCCCCATCTGCAAACATTTACATTTACACGAGTGGAACTGGGTGAAAAGCCATTGCGCA
TCATTGGAGTCAAGGTTCACCCAGGTCAGAGAAAAGAGCAGATCCTGCTGGACTTGAACATCAGCTATGTAGGTGATGTGCAGATTGATG
TGGAAGTGAAGAAATATTTTTGCAAAGCAGGAGTCAAGGGCATGCAGCTACATGGCGTTTTGCGGGTGATACTGGAGCCACTCATTGGGG
ACCTTCCCTTCGTGGGGGCTGTGTCAATGTTCTTCATCCGACGCCCGACCCTAGACATCAACTGGACAGGGATGACCAACCTGCTGGATA
TCCCAGGACTTAGCTCACTCTCTGACACCATGATCATGGACTCCATTGCTGCCTTCCTCGTGTTGCCCAACCGATTACTGGTGCCCCTTG
TGCCTGACCTTCAAGATGTGGCTCAGTTGCGTTCCCCTCTGCCCAGGGGCATTATTCGAATTCACCTGCTGGCTGCTCGAGGGCTGAGTT
CCAAGGACAAATATGTGAAGGGCCTGATTGAGGGCAAGTCAGACCCATATGCACTTGTGCGTTTGGGTACCCAGACATTCTGCAGTCGTG
TCATTGATGAAGAACTCAACCCACAGTGGGGAGAGACTTATGAGGTGATGGTACACGAGGTCCCAGGGCAGGAGATTGAAGTGGAGGTGT
TCGACAAGGATCCAGATAAAGATGACTTTCTGGGCAGAATGAAGCTGGATGTAGGGAAGGTGTTACAGGCTAGCGTTCTGGATGATTGGT
TCCCTCTACAAGGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTGTCAGATGCAGAGAAACTGGAGCAGGTTCTAC
AGTGGAATTGGGGAGTCTCCTCTCGACCAGATCCCCCGTCAGCTGCCATCTTAGTTGTCTACCTGGATCGGGCCCAGGATCTTCCTATGG
TGACCTCTGAATTGTACCCACCACAGCTGAAGAAGGGGAACAAGGAACCCAACCCTATGGTACAACTGTCAATTCAGGATGTGACTCAGG
AGAGCAAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATG
TGCAAGTGAAGGATGATTCCAGGGCCCTGACTTTAGGAGCACTGACGCTGCCTCTGGCCCGCCTGCTGACTGCCCCAGAACTCATCCTGG
ACCAGTGGTTCCAGCTCAGCAGCTCTGGTCCAAACTCCAGACTCTATATGAAACTAGTCATGAGGATCCTGTACTTGGATTCATCAGAAA
TATGCTTCCCCACGGTGCCTGGTTGTCCTGGTGCTTGGGACGTGGACAGTGAGAATCCCCAGAGAGGCAGCAGTGTGGATGCCCCACCTC
GACCCTGTCACACGACTCCTGATAGCCAGTTTGGGACTGAGCATGTGCTTCGGATCCATGTATTAGAGGCCCAGGACCTGATTGCCAAAG
ACCGTTTCTTGGGGGGACTGGTGAAGGGCAAGTCAGACCCCTATGTCAAACTAAAGTTGGCAGGACGAAGCTTCCGGAGCCATGTTGTTC
GGGAAGATCTCAATCCCCGCTGGAATGAGGTTTTTGAGGTGATCGTCACATCAGTTCCAGGCCAAGAGCTAGAGGTTGAAGTCTTTGACA
AGGACTTGGACAAGGATGATTTTCTGGGCAGGTGTAAAGTGCGTCTCACCACAGTCTTAAACAGTGGCTTCCTTGATGAGTGGCTGACCC
TGGAGGATGTCCCATCTGGCCGCCTGCACTTGCGCCTGGAGCGTCTCACCCCCCGTCCCACTGCTGCTGAGTTAGAGGAGGTGCTGCAGG
TGAATAGTTTGATCCAGACTCAGAAGAGTGCGGAGCTGGCTGCGGCCCTGCTATCCATCTATATGGAGCGGGCAGAGGACCTCCCGCTGC
GAAAAGGCACCAAGCACCTCAGCCCTTATGCTACTCTCACTGTGGGAGATAGTTCTCATAAAACCAAGACTATTTCGCAAACTTCAGCCC
CTGTCTGGGATGAGAGTGCCTCCTTTCTCATCAGGAAACCACACACTGAGAGCCTAGAGTTGCAGTTCCCTGACCAAGCAACACAGCTAA
AATGGAATGTTCAGTTTTGCCTGACGATCCCTCCCAGCGCGCCGCCGATTGCACCTCCTGGGACGCCTGCTGTGGTGCTGAAATCCAAAA
TGCTATTTTTTCTTCAACTAACTCAGAAAACATCGGTCCCTCCCCAAGAACCTGTTAGTATTATAGTTCCAATCATTTATGACATGGCTT
CAGGTACAACCCAGCAGGCAGACATTCCCAGACAGCAGAACTCTTCTGTTGCTGCTCCCATGATGGTCAGCAACATTCTGAAGAGGTTTG
CAGAGATGAATCCACCACGACAAGGTGAATGCACAATATTTGCAGCTGTTCGTGATTTAATGGCTAATCTTACACTGCCCCCTGGTGGGC
GTCCATAGACACTATTGTTTTTAAACCAGGAAGGCTGACAGATGAGACAACAAAAAAAATCTGAATTCAGCCTTCAGTTTAAAAAAGGAA
AAGGACTTTTTTTTTAAACTTTAAGAGCTAAATATTCTAAACTGGCAAAAATTTTCAGGGTGCACTTCTTTCATCAAAATGATCATCCAT
CTTTTGTATAATGAACTTGTATAGTGTGTTTAAATGGGACACATTTCAAAGGAAATAAATCAGTGTCCGTTTGCCAGTAATAAATTTAAT
ATTCTGTTTTATACTATAAAGTTATGAAAATGCCAAACTTGTTTATTTAATTGTTTTCTTATGTTTTGGGTGTAATAGTCCTTTTTTGGT
TTTTGTTTTGTTTTTTAAGGCAGGTCTGTCATTTTTGAATACTGTAAAACTGTGATAAACTTTATATTGAAGCTGTATTTTAATATGACC
GCTTTGAATCCTTACATGAAATGTTCTGGGAGTTGTTATAAACACACCCCAAGGAAGCAATATTTAATAAAACTAGGTCAAAAACAAAAC
AAAACAGTGACACTCACTTGTGTGTATATAAACTCTAGAGACATCTTAGGCCCTCCCTTCATCTTTAACCTGGTGGATGGAGCCAGTTAT
TAATTTATAATAATACATGTCTGAAATTTGACCAAAAACATCTTCTTTATGTCAAGGTTAATATATTTTCTTCAGACATTCCTAACTTGA
CTAGTGGTTAACATTTAGCACCTTGGTTGTCTTTCAATATATAGGATTTGGGTGAAAAATAAGGAACTTAGTCTTTGAGAAGGGACAGTA
TGTGGTTCGTATTGATCAAGGATCCCAAATAATGCAATCATTCTCATCTGTTGAGGATGTGGGAACTTTTCTGTCAGGAAAATTTAGTTT
ACAGAATACTTCTGCATACAACATTAATTAGGAAACAAAGAACTTTAATGCTGTACCTCTGCATGAAGTTTCTGTGAGCTTTCTTTATCT
TGCTTAACTTATCCTCCTTTCCTTCCCCACCAAAATTGGGATTGTTCTAAACAATTTCAATTTAATTCATTGTCAACAAAACGATAGAAT
GTTTTGCTTGGAAGAAACCTGGTCCATTCCCCTCATTGTGAAGAATCCCGAATCCTGGGCCTGTCCAGGGTCAAATGGAGTTTTTGGTAT
TAATACATCTCTGCAGGGTTTCTTTTTGGAGCACTGTGCTGTCTTTCCTAGTCAGTCAGGGACTTTTTTAAGCTTCAAAGAACATGGTCT
GATGCAAAGGTCTTCTACCGACTTCATGGTATTTAGGAAAAATTTTTAAGTGATAATACCATGCCGAGTTACCTGGTCACTGTAATACTG
GTTCTCCATTAAAATGTAGATGCTTTGTCTAATTCCACTTCAAGATGATTTAATTGAGCTTCTATAACTATCAACTATCAAATTCTAGTT
TCAAGTATCTCACTGTACCTATATCATATCTGTTCTCAACTTTGTTTGATTCTCCACTCATTTTCAATCAGAGTTGAAGCCTTCTTTGCC
TTTCTTCTTTGTCTTATTTCTGCCTTCATCTCCCACTTCTCACCCAACTCTGCCACTGTTCAGGAGCAGTTGACTAAACTTTTATCCTTC
CTTTAACTTAATCTTTTTATCCTTCTGTTTTTAGTTCTTACAGTGGTAATCACATCAGTTTGGCAATCTAAGATGTCTTTATCAAGGGTC
AGCCCTTTTCTATTTGGAGCTGAATCTTTTCTTTCATGTAGAAATCTACATGTATATACAAGAAATGTATTTTTATCTGCAGGATAATAT
TGTTTCAAATAATTTTATTAAGAGTTAACTTTTTAGGTATTTTCCCTTTTAATGTGGTTTTGAAATGTTAATTGCATTTTTACACATGAT
GCATTCAGTGGACACTCTTTTTTCCTAATTATAACTCATCTCTGAATGCATTGTGCCAATCAAGAGTAAGATAGGATTCAGTGCGCAAAA
TTTGCTTTTGATGCTTATTAAGAGTAAACCCATGAATTTGAATTTTTATATTATGCTTGGTACTTGGAATTGATATATACCTTATTAAAG
CTTGAAAACATTTAGCATTTGAATAGTAAGTTTCATCACAAATCATGTCTTTTGCCTCTTTTGTTACCCAGGTTCGATCAAGGGGACTGG
ATGCCCAAGTGATTTTCTCTAATAATCGGGTTGGGACTTAACTTTAAGGTGTTTTCAATGTGATTTTAGTATTTACAGTAATAAATAAAA
TTTATACAAAGTTTCAGAGAACTACCAACTCTCTAGTTAATTTTGATGAAGATGTTTTCATTAATAGTCTGGTTTAGTATTAATTTAACC
TTGAAATAAGAAATTGGTCCTGATTTGCCACCTTCATTTTTCCATCTGCTGAAATGCCATTTCAGAATGTATAAAAGTACTTTCAGAATT
AGAAGAAAAGTGAGAGCTTCAGCAGAACGTGTCAAGTCGCTAATAACAGGAGTCGAACCTTATGTTTGAAAATTAACTGAGTGAGTTAAG
TGCAAGCATAAACTAAAATTTATATGACTTTGAATTTAAGAACCACTAATAACTGTGTTCTAATTAACACAGTAATCTGTTCAGCCAAAG
GATACTAACAGCCATTCTTTGGACTGTGGTTAATTTGATAACTTCAAGAAGTTATAACTTTGCTACCCTGGATTCTGATGCAATTTCAAT
ATAAAAAGTTGTTCCTTTCATAGTTTTTCCCCCCAAAAGAAGTGCCTATTACATTTTACCTTAATGTTTATTTATCATCCAAGTGTTCTT
GATATAAAATCAGTATACAGAAAATTTTAAGAGAACTTACATTCAAGGGACATAGAGGGAAAATGTTAATGTGTATTTCATTGTTTCTTG
TGGAATTTTTTTTTCATTCGGTTTGAGAATGGACAGTGTGTCTAAGGATGTGATTTAAATTTACTTAGGATGGATTTAGCATTGAGGTTA
TTAAGACAAAGTTAGCAGAGGCCAGCCAGCACTGTGCTGCACAACTCCAGGAACTCCATGGTATGCTCACAATTTTCTGCAAGTTGCCTC
CACTTCCAAGTGGCCAGTGATTTGTTAAAATACCTTGCCCAAGAATATAACTGATTGATGAAAGGGCATATTTAGGTCAATATAAAATAA
TAGCAAGTATTTACTGAGAGCTTACTGTGTGCTAGGCATTTTCTTAATATTTCAATGTGTATTTAATCCTCACAACAACCCAATGTGGTA
GGTTATTGATATCCTCTTCTTAAAAATGAGTAAATGGAGGCCCAGAGAAATGTAATTTGCCTGAGATCAAATTAAGGTTGCTTAAGATCA
AACTGCTAAGAAGGGGCAGTTTGAGTCTGAGCTAGTGCTCCTAAACACTGGACATTTTTGCTGTGAACCACAGTCGGGAAGGTTTAATGT

>27596_27596_3_ESYT1-MED14_ESYT1_chr12_56532797_ENST00000541590_MED14_chrX_40514312_ENST00000324817_length(amino acids)=1015AA_BP=885
MGRADPPRGGTMERSPGEGPSPSPMDQPSAPSDPTDQPPAAHAKPDPGSGGQPAGPGAAGEALAVLTSFGRRLLVLIPVYLAGAVGLSVG
FVLFGLALYLGWRRVRDEKERSLRAARQLLDDEEQLTAKTLYMSHRELPAWVSFPDVEKAEWLNKIVAQVWPFLGQYMEKLLAETVAPAV
RGSNPHLQTFTFTRVELGEKPLRIIGVKVHPGQRKEQILLDLNISYVGDVQIDVEVKKYFCKAGVKGMQLHGVLRVILEPLIGDLPFVGA
VSMFFIRRPTLDINWTGMTNLLDIPGLSSLSDTMIMDSIAAFLVLPNRLLVPLVPDLQDVAQLRSPLPRGIIRIHLLAARGLSSKDKYVK
GLIEGKSDPYALVRLGTQTFCSRVIDEELNPQWGETYEVMVHEVPGQEIEVEVFDKDPDKDDFLGRMKLDVGKVLQASVLDDWFPLQGGQ
GQVHLRLEWLSLLSDAEKLEQVLQWNWGVSSRPDPPSAAILVVYLDRAQDLPMVTSELYPPQLKKGNKEPNPMVQLSIQDVTQESKAVYS
TNCPVWEEAFRFFLQDPQSQELDVQVKDDSRALTLGALTLPLARLLTAPELILDQWFQLSSSGPNSRLYMKLVMRILYLDSSEICFPTVP
GCPGAWDVDSENPQRGSSVDAPPRPCHTTPDSQFGTEHVLRIHVLEAQDLIAKDRFLGGLVKGKSDPYVKLKLAGRSFRSHVVREDLNPR
WNEVFEVIVTSVPGQELEVEVFDKDLDKDDFLGRCKVRLTTVLNSGFLDEWLTLEDVPSGRLHLRLERLTPRPTAAELEEVLQVNSLIQT
QKSAELAAALLSIYMERAEDLPLRKGTKHLSPYATLTVGDSSHKTKTISQTSAPVWDESASFLIRKPHTESLELQFPDQATQLKWNVQFC
LTIPPSAPPIAPPGTPAVVLKSKMLFFLQLTQKTSVPPQEPVSIIVPIIYDMASGTTQQADIPRQQNSSVAAPMMVSNILKRFAEMNPPR

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Fusion Gene PPI Analysis for ESYT1-MED14


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
TgeneMED14chr12:56532797chrX:40514312ENST000003248172731500_8241324.01455.0SREBF1
TgeneMED14chr12:56532797chrX:40514312ENST000003248172731188_5661324.01455.0STAT2


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 ESYT1-MED14


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 ESYT1-MED14


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