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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:EIF2S1-GPHN (FusionGDB2 ID:HG1965TG10243)

Fusion Gene Summary for EIF2S1-GPHN

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2S1-GPHN
Fusion gene ID: hg1965tg10243
HgeneTgene
Gene symbol

EIF2S1

GPHN

Gene ID

1965

10243

Gene nameeukaryotic translation initiation factor 2 subunit alphagephyrin
SynonymsEIF-2|EIF-2A|EIF-2alpha|EIF2|EIF2AGEPH|GPH|GPHRYN|HKPX1|MOCODC
Cytomap('EIF2S1')('GPHN')

14q23.3

14q23.3-q24.1

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 2 subunit 1eIF-2-alphaeukaryotic translation initiation factor 2, subunit 1 alpha, 35kDagephyrin
Modification date2020031320200313
UniProtAcc.

Q9NQX3

Ensembl transtripts involved in fusion geneENST00000256383, ENST00000466499, 
ENST00000256383, ENST00000466499, 
Fusion gene scores* DoF score4 X 5 X 5=10042 X 51 X 15=32130
# samples 862
** MAII scorelog2(8/100*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(62/32130*10)=-5.69550895508454
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF2S1 [Title/Abstract] AND GPHN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF2S1(67827173)-GPHN(67576857), # samples:3
Anticipated loss of major functional domain due to fusion event.EIF2S1-GPHN 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.
EIF2S1-GPHN 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.
EIF2S1-GPHN 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.
EIF2S1-GPHN 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
TgeneGPHN

GO:0032324

molybdopterin cofactor biosynthetic process

26613940

TgeneGPHN

GO:0097112

gamma-aminobutyric acid receptor clustering

26613940


check buttonFusion gene breakpoints across EIF2S1 (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 GPHN (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-GM-A2DB-01AEIF2S1chr14

67841264

-GPHNchr14

67291192

+
ChimerDB4BRCATCGA-GM-A2DB-01AEIF2S1chr14

67841264

+GPHNchr14

67291192

+
ChimerDB4ESCATCGA-LN-A5U5-01AEIF2S1chr14

67827173

-GPHNchr14

67576857

+
ChimerDB4ESCATCGA-LN-A5U5-01AEIF2S1chr14

67827173

+GPHNchr14

67576857

+
ChimerDB4ESCATCGA-LN-A5U5EIF2S1chr14

67827173

+GPHNchr14

67576856

+
ChimerDB4ESCATCGA-LN-A5U5EIF2S1chr14

67827173

+GPHNchr14

67576857

+
ChimerDB4STADTCGA-LN-A5U5-01A3EIF2S1chr14

67827172

+GPHNchr14

67576856

+


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Fusion Gene ORF analysis for EIF2S1-GPHN

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-3UTRENST00000256383ENST00000544752EIF2S1chr14

67841264

+GPHNchr14

67291192

+
5CDS-3UTRENST00000466499ENST00000544752EIF2S1chr14

67841264

+GPHNchr14

67291192

+
5CDS-intronENST00000256383ENST00000305960EIF2S1chr14

67841264

+GPHNchr14

67291192

+
5CDS-intronENST00000256383ENST00000459628EIF2S1chr14

67841264

+GPHNchr14

67291192

+
5CDS-intronENST00000256383ENST00000543237EIF2S1chr14

67841264

+GPHNchr14

67291192

+
5CDS-intronENST00000466499ENST00000305960EIF2S1chr14

67841264

+GPHNchr14

67291192

+
5CDS-intronENST00000466499ENST00000459628EIF2S1chr14

67841264

+GPHNchr14

67291192

+
5CDS-intronENST00000466499ENST00000543237EIF2S1chr14

67841264

+GPHNchr14

67291192

+
5UTR-3CDSENST00000256383ENST00000315266EIF2S1chr14

67827173

+GPHNchr14

67576857

+
5UTR-3CDSENST00000256383ENST00000315266EIF2S1chr14

67827173

+GPHNchr14

67576856

+
5UTR-3CDSENST00000256383ENST00000315266EIF2S1chr14

67827172

+GPHNchr14

67576856

+
5UTR-3CDSENST00000256383ENST00000478722EIF2S1chr14

67827173

+GPHNchr14

67576857

+
5UTR-3CDSENST00000256383ENST00000478722EIF2S1chr14

67827173

+GPHNchr14

67576856

+
5UTR-3CDSENST00000256383ENST00000478722EIF2S1chr14

67827172

+GPHNchr14

67576856

+
5UTR-3UTRENST00000256383ENST00000544752EIF2S1chr14

67827173

+GPHNchr14

67576857

+
5UTR-3UTRENST00000256383ENST00000544752EIF2S1chr14

67827173

+GPHNchr14

67576856

+
5UTR-3UTRENST00000256383ENST00000544752EIF2S1chr14

67827172

+GPHNchr14

67576856

+
5UTR-intronENST00000256383ENST00000305960EIF2S1chr14

67827173

+GPHNchr14

67576857

+
5UTR-intronENST00000256383ENST00000305960EIF2S1chr14

67827173

+GPHNchr14

67576856

+
5UTR-intronENST00000256383ENST00000305960EIF2S1chr14

67827172

+GPHNchr14

67576856

+
5UTR-intronENST00000256383ENST00000459628EIF2S1chr14

67827173

+GPHNchr14

67576857

+
5UTR-intronENST00000256383ENST00000459628EIF2S1chr14

67827173

+GPHNchr14

67576856

+
5UTR-intronENST00000256383ENST00000459628EIF2S1chr14

67827172

+GPHNchr14

67576856

+
5UTR-intronENST00000256383ENST00000543237EIF2S1chr14

67827173

+GPHNchr14

67576857

+
5UTR-intronENST00000256383ENST00000543237EIF2S1chr14

67827173

+GPHNchr14

67576856

+
5UTR-intronENST00000256383ENST00000543237EIF2S1chr14

67827172

+GPHNchr14

67576856

+
In-frameENST00000256383ENST00000315266EIF2S1chr14

67841264

+GPHNchr14

67291192

+
In-frameENST00000256383ENST00000478722EIF2S1chr14

67841264

+GPHNchr14

67291192

+
In-frameENST00000466499ENST00000315266EIF2S1chr14

67841264

+GPHNchr14

67291192

+
In-frameENST00000466499ENST00000478722EIF2S1chr14

67841264

+GPHNchr14

67291192

+
intron-3CDSENST00000466499ENST00000315266EIF2S1chr14

67827173

+GPHNchr14

67576857

+
intron-3CDSENST00000466499ENST00000315266EIF2S1chr14

67827173

+GPHNchr14

67576856

+
intron-3CDSENST00000466499ENST00000315266EIF2S1chr14

67827172

+GPHNchr14

67576856

+
intron-3CDSENST00000466499ENST00000478722EIF2S1chr14

67827173

+GPHNchr14

67576857

+
intron-3CDSENST00000466499ENST00000478722EIF2S1chr14

67827173

+GPHNchr14

67576856

+
intron-3CDSENST00000466499ENST00000478722EIF2S1chr14

67827172

+GPHNchr14

67576856

+
intron-3UTRENST00000466499ENST00000544752EIF2S1chr14

67827173

+GPHNchr14

67576857

+
intron-3UTRENST00000466499ENST00000544752EIF2S1chr14

67827173

+GPHNchr14

67576856

+
intron-3UTRENST00000466499ENST00000544752EIF2S1chr14

67827172

+GPHNchr14

67576856

+
intron-intronENST00000466499ENST00000305960EIF2S1chr14

67827173

+GPHNchr14

67576857

+
intron-intronENST00000466499ENST00000305960EIF2S1chr14

67827173

+GPHNchr14

67576856

+
intron-intronENST00000466499ENST00000305960EIF2S1chr14

67827172

+GPHNchr14

67576856

+
intron-intronENST00000466499ENST00000459628EIF2S1chr14

67827173

+GPHNchr14

67576857

+
intron-intronENST00000466499ENST00000459628EIF2S1chr14

67827173

+GPHNchr14

67576856

+
intron-intronENST00000466499ENST00000459628EIF2S1chr14

67827172

+GPHNchr14

67576856

+
intron-intronENST00000466499ENST00000543237EIF2S1chr14

67827173

+GPHNchr14

67576857

+
intron-intronENST00000466499ENST00000543237EIF2S1chr14

67827173

+GPHNchr14

67576856

+
intron-intronENST00000466499ENST00000543237EIF2S1chr14

67827172

+GPHNchr14

67576856

+

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)
ENST00000256383EIF2S1chr1467841264+ENST00000315266GPHNchr1467291192+36537824612791776
ENST00000256383EIF2S1chr1467841264+ENST00000478722GPHNchr1467291192+37577824612890809
ENST00000466499EIF2S1chr1467841264+ENST00000315266GPHNchr1467291192+395210817603090776
ENST00000466499EIF2S1chr1467841264+ENST00000478722GPHNchr1467291192+405610817603189809

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
ENST00000256383ENST00000315266EIF2S1chr1467841264+GPHNchr1467291192+0.0024280310.997572
ENST00000256383ENST00000478722EIF2S1chr1467841264+GPHNchr1467291192+0.0020386260.9979614
ENST00000466499ENST00000315266EIF2S1chr1467841264+GPHNchr1467291192+0.0017344470.99826556
ENST00000466499ENST00000478722EIF2S1chr1467841264+GPHNchr1467291192+0.0014292080.9985708

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Fusion Genomic Features for EIF2S1-GPHN


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)
EIF2S1chr1467827173+GPHNchr1467576856+0.0821891950.9178108
EIF2S1chr1467827173+GPHNchr1467576856+0.0821891950.9178108
EIF2S1chr1467827173+GPHNchr1467576856+0.0821891950.9178108
EIF2S1chr1467841264+GPHNchr1467291191+0.0005067220.99949324
EIF2S1chr1467827173+GPHNchr1467576856+0.0821891950.9178108
EIF2S1chr1467827173+GPHNchr1467576856+0.0821891950.9178108
EIF2S1chr1467827173+GPHNchr1467576856+0.0821891950.9178108
EIF2S1chr1467841264+GPHNchr1467291191+0.0005067220.99949324

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 EIF2S1-GPHN


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/chr14:67827173/chr14:67576857)
- 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
.GPHN

Q9NQX3

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: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940). {ECO:0000250|UniProtKB:Q03555, ECO:0000269|PubMed:25025157, ECO:0000269|PubMed:26613940}.; FUNCTION: Has also a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. {ECO:0000269|PubMed:26613940}.

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
HgeneEIF2S1chr14:67841264chr14:67291192ENST00000256383+3817_88107316.0DomainS1 motif
HgeneEIF2S1chr14:67841264chr14:67291192ENST00000466499+2717_88107316.0DomainS1 motif
TgeneGPHNchr14:67841264chr14:67291192ENST00000315266222326_73667737.0RegionNote=MPT adenylyltransferase
TgeneGPHNchr14:67841264chr14:67291192ENST00000478722223326_73667770.0RegionNote=MPT adenylyltransferase

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneGPHNchr14:67841264chr14:67291192ENST0000031526622214_16667737.0RegionNote=MPT Mo-transferase
TgeneGPHNchr14:67841264chr14:67291192ENST0000047872222314_16667770.0RegionNote=MPT Mo-transferase


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Fusion Gene Sequence for EIF2S1-GPHN


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.
>25729_25729_1_EIF2S1-GPHN_EIF2S1_chr14_67841264_ENST00000256383_GPHN_chr14_67291192_ENST00000315266_length(transcript)=3653nt_BP=782nt
GCGCAATACGCGGCACGCGCCAGGCCAAAGACTAGGAGCGAAGCGTGCACGCCTTGTCTTTCTCCACCTTTCGTCTTTGGTCACAGCGCC
ATCTCATGGTTAGCTGAAACTTTGAAAGAGGATTCATTCTTCAGAGGCAAGGAATCGGAGTCCTATGTCTTTCTCGCGCCTTGAAGGTTA
CTTAGCTAAAGCTAAGATAGCGAGAAACAGTACTTTTCAGGTCCTTCCATGATCTACATTCGTCCTTGTTCTCGGAGGACCCAGACTCTA
TGGTTAATGATGAAGAGGGGCCTCTATTCGTTCAGCGCTTGCGCATGCGAGGAGGTTCCGCATGCGCGGTGGAGTGAGCGAAGCGCACGC
TGAGGAGGATCGGCGGCCGGTGAGGGGGAAGCAAGTCTGGTCTCTGTGATTGAAGAAGTCGGCTCTGGGCTCCAGTGCGGGAATCACACA
CATACCTCAGAATGCCGGGTCTAAGTTGTAGATTTTATCAACACAAATTTCCTGAGGTGGAAGATGTAGTGATGGTGAATGTCAGATCCA
TTGCTGAAATGGGGGCTTATGTCAGCTTGCTGGAATACAACAACATTGAAGGCATGATTCTTCTTAGTGAATTATCCAGAAGGCGTATCC
GTTCTATCAACAAACTCATCCGAATTGGCAGGAATGAGTGTGTGGTTGTCATTAGGGTGGACAAAGAAAAAGGATATATTGATTTGTCAA
AAAGAAGAGTTTCTCCAGAGGAAGCAATCAAATGTGAAGACAAATTCACAAAATCCAAAACTGAAACCCTGATAGATTGGTGTGATGAAA
AGGAACTTAATTTGATATTAACAACTGGAGGAACAGGATTTGCACCACGAGATGTCACTCCAGAGGCCACAAAAGAAGTAATAGAACGGG
AAGCACCAGGGATGGCCCTGGCAATGCTGATGGGATCACTTAATGTTACACCTCTGGGCATGCTCTCTAGGCCTGTATGTGGAATCAGAG
GGAAAACGCTCATAATTAACCTGCCAGGTAGCAAGAAAGGATCTCAGGAATGCTTTCAATTCATACTGCCAGCTCTACCTCATGCCATTG
ACCTTTTACGTGATGCCATTGTAAAAGTAAAGGAGGTGCATGATGAACTTGAAGATTTGCCTTCCCCACCTCCCCCTCTTTCCCCTCCTC
CTACTACCAGCCCCCATAAACAGACAGAAGACAAAGGAGTTCAATGTGAGGAAGAGGAAGAAGAGAAGAAAGACAGTGGTGTTGCTTCAA
CAGAAGATAGTTCCTCATCACATATAACTGCAGCAGCCATTGCTGCCAAGATTCCAGACTCCATCATTTCTCGTGGTGTTCAGGTGCTCC
CACGAGACACAGCCTCCCTCAGCACTACTCCTTCAGAATCGCCTCGTGCTCAGGCTACATCTCGCCTCTCTACAGCTTCCTGCCCAACAC
CAAAAGTCCAGTCCAGGTGCAGCAGCAAGGAGAACATTCTCAGAGCCAGTCACAGTGCTGTCGATATCACCAAGGTGGCTAGAAGACATC
GCATGTCTCCTTTTCCTCTGACATCTATGGACAAAGCCTTTATCACAGTCCTGGAGATGACTCCGGTGCTTGGGACAGAAATCATCAATT
ACCGAGATGGAATGGGGCGAGTCCTTGCTCAAGATGTATATGCAAAAGACAATTTACCCCCCTTCCCAGCATCAGTAAAAGATGGCTATG
CTGTCCGAGCTGCTGATGGCCCAGGAGATCGTTTCATCATTGGGGAATCCCAAGCTGGTGAACAGCCAACTCAGACAGTAATGCCAGGAC
AAGTCATGCGGGTTACAACAGGTGCTCCAATACCCTGCGGTGCTGATGCAGTAGTACAAGTGGAAGATACCGAACTTATCAGGGAATCAG
ATGATGGCACTGAAGAACTTGAAGTGCGAATTCTGGTGCAAGCTCGGCCAGGCCAAGATATCAGACCCATCGGCCATGACATTAAAAGAG
GGGAATGTGTTTTGGCCAAAGGAACCCACATGGGCCCCTCAGAGATTGGTCTTCTGGCAACTGTAGGTGTCACAGAGGTTGAAGTTAATA
AGTTTCCAGTGGTTGCAGTCATGTCAACAGGGAATGAGCTGCTAAATCCTGAAGATGACCTCTTACCAGGGAAGATTCGAGACAGCAATC
GTTCAACTCTTCTAGCAACAATTCAGGAACATGGTTACCCCACGATCAACTTGGGTATTGTAGGAGACAACCCAGATGACTTACTCAATG
CCTTGAATGAGGGTATCAGTCGTGCTGATGTCATCATCACATCAGGGGGTGTATCCATGGGGGAAAAGGACTATCTCAAGCAGGTGCTGG
ACATTGATCTTCATGCTCAGATCCATTTTGGCAGGGTTTTTATGAAACCAGGCTTGCCAACAACATTTGCAACTTTGGATATTGATGGTG
TAAGAAAAATAATCTTTGCACTACCTGGGAATCCTGTATCGGCTGTGGTCACCTGCAATCTCTTTGTTGTGCCTGCACTGAGGAAAATGC
AGGGCATCTTGGATCCTCGGCCAACCATCATCAAAGCAAGGTTATCATGTGATGTAAAACTTGATCCTCGTCCAGAATACCATCGGTGTA
TACTAACTTGGCATCACCAAGAACCACTACCTTGGGCACAGAGTACAGGTAATCAAATGAGCAGCCGTCTGATGAGCATGCGCAGTGCCA
ATGGATTGTTGATGCTACCTCCAAAGACAGAACAGTACGTGGAGCTCCACAAAGGCGAGGTGGTGGATGTCATGGTCATTGGACGGCTAT
GATGGTCACCAGCAGGAGAAAGCTTTGATGCATGTCCACATATCATTGACTGTATCCTGTAATATGCAACGGCACAGCTAGTTTTCCCGA
TTTGGATAAAAGTTGATCTGTATAGTCAACATCTTGAACTATATTTCAAATGAATTTAAATATCTTTTAAAGAAAAAAACACCTAAAAAT
AAATCTTAACAGAAAATTCTGTTCTGATTATATCAAGGCAAATTTTTCCTTTCTTGCAAATTGCTTTGTGTGTTCAATGCTAGGTCTGAT
AGCGATAGCTTTTAGTAGACAGCGGTAGGTGCCTGCAGAACTTGTGTTTTTCTCATCTTTAAAATACAACTACTTATGCTCTTAAATCAA
GGCTGTCTGCTTATTTATACTAGCGTAGGCAACACTTGGATTTCCCTTCTTAGTATGCTTCATAACTGCTTTACAGAGAGCTTTTGCTTG
TTCTTTCTCATGTATCTCGTGTTTATGTGCACAGTGCCAAAAGAAGACTGACTGGGTGGAGGCTCTGCCTTGCCTCAAGAACCATCCCCT
GCAGAGCATCCAGGGAGGTTTCTCGCCCCAATAGCCTCACGGCACAGTACTCTTGGGCAGTAACTGGACACCTTTTATTTGAAGAAACAA
ACTGAAGAAAAAATGCTTCCTTAAGTGCTGACAGCCTTTTTAACCAATACATTTAAAATTGTACAGAACAAAAAAATAAAATCAAAGACT
GATCTTGTACAGATATTAGTGTTACCAGCATTCATGTGGAAATCAAGAGCAAAGACAAAATAATGTTAAACAATTCTGTACCATAACATT

>25729_25729_1_EIF2S1-GPHN_EIF2S1_chr14_67841264_ENST00000256383_GPHN_chr14_67291192_ENST00000315266_length(amino acids)=776AA_BP=107
MPGLSCRFYQHKFPEVEDVVMVNVRSIAEMGAYVSLLEYNNIEGMILLSELSRRRIRSINKLIRIGRNECVVVIRVDKEKGYIDLSKRRV
SPEEAIKCEDKFTKSKTETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTL
IINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDS
SSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSP
FPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMR
VTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPV
VAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDL
HAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTW

--------------------------------------------------------------
>25729_25729_2_EIF2S1-GPHN_EIF2S1_chr14_67841264_ENST00000256383_GPHN_chr14_67291192_ENST00000478722_length(transcript)=3757nt_BP=782nt
GCGCAATACGCGGCACGCGCCAGGCCAAAGACTAGGAGCGAAGCGTGCACGCCTTGTCTTTCTCCACCTTTCGTCTTTGGTCACAGCGCC
ATCTCATGGTTAGCTGAAACTTTGAAAGAGGATTCATTCTTCAGAGGCAAGGAATCGGAGTCCTATGTCTTTCTCGCGCCTTGAAGGTTA
CTTAGCTAAAGCTAAGATAGCGAGAAACAGTACTTTTCAGGTCCTTCCATGATCTACATTCGTCCTTGTTCTCGGAGGACCCAGACTCTA
TGGTTAATGATGAAGAGGGGCCTCTATTCGTTCAGCGCTTGCGCATGCGAGGAGGTTCCGCATGCGCGGTGGAGTGAGCGAAGCGCACGC
TGAGGAGGATCGGCGGCCGGTGAGGGGGAAGCAAGTCTGGTCTCTGTGATTGAAGAAGTCGGCTCTGGGCTCCAGTGCGGGAATCACACA
CATACCTCAGAATGCCGGGTCTAAGTTGTAGATTTTATCAACACAAATTTCCTGAGGTGGAAGATGTAGTGATGGTGAATGTCAGATCCA
TTGCTGAAATGGGGGCTTATGTCAGCTTGCTGGAATACAACAACATTGAAGGCATGATTCTTCTTAGTGAATTATCCAGAAGGCGTATCC
GTTCTATCAACAAACTCATCCGAATTGGCAGGAATGAGTGTGTGGTTGTCATTAGGGTGGACAAAGAAAAAGGATATATTGATTTGTCAA
AAAGAAGAGTTTCTCCAGAGGAAGCAATCAAATGTGAAGACAAATTCACAAAATCCAAAACTGAAACCCTGATAGATTGGTGTGATGAAA
AGGAACTTAATTTGATATTAACAACTGGAGGAACAGGATTTGCACCACGAGATGTCACTCCAGAGGCCACAAAAGAAGTAATAGAACGGG
AAGCACCAGGGATGGCCCTGGCAATGCTGATGGGATCACTTAATGTTACACCTCTGGGCATGCTCTCTAGGCCTGTATGTGGAATCAGAG
GGAAAACGCTCATAATTAACCTGCCAGGTAGCAAGAAAGGATCTCAGGAATGCTTTCAATTCATACTGCCAGCTCTACCTCATGCCATTG
ACCTTTTACGTGATGCCATTGTAAAAGTAAAGGAGGTGCATGATGAACTTGAAGATTTGCCTTCCCCACCTCCCCCTCTTTCCCCTCCTC
CTACTACCAGCCCCCATAAACAGACAGAAGACAAAGGAGTTCAATGTGAGGAAGAGGAAGAAGAGAAGAAAGACAGTGGTGTTGCTTCAA
CAGAAGATAGTTCCTCATCACATATAACTGCAGCAGCCATTGCTGCCAAGAAGCATCCATTCTACACCAGTCCTGCTGTTGTCATGGCAC
ACGGTGAACAGCCCATCCCTGGTCTCATCAATTATTCCCATCATTCAACAGATGAACGGATTCCAGACTCCATCATTTCTCGTGGTGTTC
AGGTGCTCCCACGAGACACAGCCTCCCTCAGCACTACTCCTTCAGAATCGCCTCGTGCTCAGGCTACATCTCGCCTCTCTACAGCTTCCT
GCCCAACACCAAAAGTCCAGTCCAGGTGCAGCAGCAAGGAGAACATTCTCAGAGCCAGTCACAGTGCTGTCGATATCACCAAGGTGGCTA
GAAGACATCGCATGTCTCCTTTTCCTCTGACATCTATGGACAAAGCCTTTATCACAGTCCTGGAGATGACTCCGGTGCTTGGGACAGAAA
TCATCAATTACCGAGATGGAATGGGGCGAGTCCTTGCTCAAGATGTATATGCAAAAGACAATTTACCCCCCTTCCCAGCATCAGTAAAAG
ATGGCTATGCTGTCCGAGCTGCTGATGGCCCAGGAGATCGTTTCATCATTGGGGAATCCCAAGCTGGTGAACAGCCAACTCAGACAGTAA
TGCCAGGACAAGTCATGCGGGTTACAACAGGTGCTCCAATACCCTGCGGTGCTGATGCAGTAGTACAAGTGGAAGATACCGAACTTATCA
GGGAATCAGATGATGGCACTGAAGAACTTGAAGTGCGAATTCTGGTGCAAGCTCGGCCAGGCCAAGATATCAGACCCATCGGCCATGACA
TTAAAAGAGGGGAATGTGTTTTGGCCAAAGGAACCCACATGGGCCCCTCAGAGATTGGTCTTCTGGCAACTGTAGGTGTCACAGAGGTTG
AAGTTAATAAGTTTCCAGTGGTTGCAGTCATGTCAACAGGGAATGAGCTGCTAAATCCTGAAGATGACCTCTTACCAGGGAAGATTCGAG
ACAGCAATCGTTCAACTCTTCTAGCAACAATTCAGGAACATGGTTACCCCACGATCAACTTGGGTATTGTAGGAGACAACCCAGATGACT
TACTCAATGCCTTGAATGAGGGTATCAGTCGTGCTGATGTCATCATCACATCAGGGGGTGTATCCATGGGGGAAAAGGACTATCTCAAGC
AGGTGCTGGACATTGATCTTCATGCTCAGATCCATTTTGGCAGGGTTTTTATGAAACCAGGCTTGCCAACAACATTTGCAACTTTGGATA
TTGATGGTGTAAGAAAAATAATCTTTGCACTACCTGGGAATCCTGTATCGGCTGTGGTCACCTGCAATCTCTTTGTTGTGCCTGCACTGA
GGAAAATGCAGGGCATCTTGGATCCTCGGCCAACCATCATCAAAGCAAGGTTATCATGTGATGTAAAACTTGATCCTCGTCCAGAATACC
ATCGGTGTATACTAACTTGGCATCACCAAGAACCACTACCTTGGGCACAGAGTACAGGTAATCAAATGAGCAGCCGTCTGATGAGCATGC
GCAGTGCCAATGGATTGTTGATGCTACCTCCAAAGACAGAACAGTACGTGGAGCTCCACAAAGGCGAGGTGGTGGATGTCATGGTCATTG
GACGGCTATGATGGTCACCAGCAGGAGAAAGCTTTGATGCATGTCCACATATCATTGACTGTATCCTGTAATATGCAACGGCACAGCTAG
TTTTCCCGATTTGGATAAAAGTTGATCTGTATAGTCAACATCTTGAACTATATTTCAAATGAATTTAAATATCTTTTAAAGAAAAAAACA
CCTAAAAATAAATCTTAACAGAAAATTCTGTTCTGATTATATCAAGGCAAATTTTTCCTTTCTTGCAAATTGCTTTGTGTGTTCAATGCT
AGGTCTGATAGCGATAGCTTTTAGTAGACAGCGGTAGGTGCCTGCAGAACTTGTGTTTTTCTCATCTTTAAAATACAACTACTTATGCTC
TTAAATCAAGGCTGTCTGCTTATTTATACTAGCGTAGGCAACACTTGGATTTCCCTTCTTAGTATGCTTCATAACTGCTTTACAGAGAGC
TTTTGCTTGTTCTTTCTCATGTATCTCGTGTTTATGTGCACAGTGCCAAAAGAAGACTGACTGGGTGGAGGCTCTGCCTTGCCTCAAGAA
CCATCCCCTGCAGAGCATCCAGGGAGGTTTCTCGCCCCAATAGCCTCACGGCACAGTACTCTTGGGCAGTAACTGGACACCTTTTATTTG
AAGAAACAAACTGAAGAAAAAATGCTTCCTTAAGTGCTGACAGCCTTTTTAACCAATACATTTAAAATTGTACAGAACAAAAAAATAAAA
TCAAAGACTGATCTTGTACAGATATTAGTGTTACCAGCATTCATGTGGAAATCAAGAGCAAAGACAAAATAATGTTAAACAATTCTGTAC

>25729_25729_2_EIF2S1-GPHN_EIF2S1_chr14_67841264_ENST00000256383_GPHN_chr14_67291192_ENST00000478722_length(amino acids)=809AA_BP=107
MPGLSCRFYQHKFPEVEDVVMVNVRSIAEMGAYVSLLEYNNIEGMILLSELSRRRIRSINKLIRIGRNECVVVIRVDKEKGYIDLSKRRV
SPEEAIKCEDKFTKSKTETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTL
IINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDS
SSSHITAAAIAAKKHPFYTSPAVVMAHGEQPIPGLINYSHHSTDERIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTP
KVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYA
VRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRG
ECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNA
LNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQ

--------------------------------------------------------------
>25729_25729_3_EIF2S1-GPHN_EIF2S1_chr14_67841264_ENST00000466499_GPHN_chr14_67291192_ENST00000315266_length(transcript)=3952nt_BP=1081nt
AATTGTAAATATCTTTAATGCTTGGAGGTTAAGAGAAACTTGAACTTTGTAGTAATGGAGATTAAAGCTATTCTCAAGATTAGGTATACC
TATTCAATAAAAGAAAGGAATATTTGGGAGTATTGGGGATAAGAGAAGCTAGACATTGTGAATTCAAGGAAAAAGAATTATGAGAGGAGG
ATGCATTTTAGTTTATTTTGTGATTAAAATTTTTTTAGTTTTTGTTGTTTTGACATGTGACACTGTAATTTTGGCTATAATAAATGACAG
AATGTATCATTTGGTATATTGGTTAGGGTTTAGGTAGAAAATTTTTTCCTTTATATAGTGAGTGGTAGCGTATACAATGTTTGCTCACTT
CGGCAAAGAGTAGCTTTAGTTTTCTGATTAGTTATAATAGTGATGCTTCCCATCATTTGATATGCCTTAAAGTAGTATTTTACTCTTGAG
GTATTCCTTTAATCCTTAGGTCTTGGAGTACTTTATAGATGGTCATTATTTTTTATGATTCCTCTGAAACTAAAGGCAGAGAATCACCCA
AGCATTACAAAAATGTTGAGCAAAATAAAAATTAAAGCTTGGTTCCTGAACATTATCTGTTTTCTGGTACCACTTAAGAAGTTTCAAAGG
ATGAGAAGACTAAGACTAATAACTATTTTTTTCTTCATCTTTTCTTTCAGTGGCAGGATGTGGAAATTGATTTTTTTTTTATTTTCACCT
TAACTGAATACTTACTTAATTCTTTTGTTTAAATTGCAGAATGCCGGGTCTAAGTTGTAGATTTTATCAACACAAATTTCCTGAGGTGGA
AGATGTAGTGATGGTGAATGTCAGATCCATTGCTGAAATGGGGGCTTATGTCAGCTTGCTGGAATACAACAACATTGAAGGCATGATTCT
TCTTAGTGAATTATCCAGAAGGCGTATCCGTTCTATCAACAAACTCATCCGAATTGGCAGGAATGAGTGTGTGGTTGTCATTAGGGTGGA
CAAAGAAAAAGGATATATTGATTTGTCAAAAAGAAGAGTTTCTCCAGAGGAAGCAATCAAATGTGAAGACAAATTCACAAAATCCAAAAC
TGAAACCCTGATAGATTGGTGTGATGAAAAGGAACTTAATTTGATATTAACAACTGGAGGAACAGGATTTGCACCACGAGATGTCACTCC
AGAGGCCACAAAAGAAGTAATAGAACGGGAAGCACCAGGGATGGCCCTGGCAATGCTGATGGGATCACTTAATGTTACACCTCTGGGCAT
GCTCTCTAGGCCTGTATGTGGAATCAGAGGGAAAACGCTCATAATTAACCTGCCAGGTAGCAAGAAAGGATCTCAGGAATGCTTTCAATT
CATACTGCCAGCTCTACCTCATGCCATTGACCTTTTACGTGATGCCATTGTAAAAGTAAAGGAGGTGCATGATGAACTTGAAGATTTGCC
TTCCCCACCTCCCCCTCTTTCCCCTCCTCCTACTACCAGCCCCCATAAACAGACAGAAGACAAAGGAGTTCAATGTGAGGAAGAGGAAGA
AGAGAAGAAAGACAGTGGTGTTGCTTCAACAGAAGATAGTTCCTCATCACATATAACTGCAGCAGCCATTGCTGCCAAGATTCCAGACTC
CATCATTTCTCGTGGTGTTCAGGTGCTCCCACGAGACACAGCCTCCCTCAGCACTACTCCTTCAGAATCGCCTCGTGCTCAGGCTACATC
TCGCCTCTCTACAGCTTCCTGCCCAACACCAAAAGTCCAGTCCAGGTGCAGCAGCAAGGAGAACATTCTCAGAGCCAGTCACAGTGCTGT
CGATATCACCAAGGTGGCTAGAAGACATCGCATGTCTCCTTTTCCTCTGACATCTATGGACAAAGCCTTTATCACAGTCCTGGAGATGAC
TCCGGTGCTTGGGACAGAAATCATCAATTACCGAGATGGAATGGGGCGAGTCCTTGCTCAAGATGTATATGCAAAAGACAATTTACCCCC
CTTCCCAGCATCAGTAAAAGATGGCTATGCTGTCCGAGCTGCTGATGGCCCAGGAGATCGTTTCATCATTGGGGAATCCCAAGCTGGTGA
ACAGCCAACTCAGACAGTAATGCCAGGACAAGTCATGCGGGTTACAACAGGTGCTCCAATACCCTGCGGTGCTGATGCAGTAGTACAAGT
GGAAGATACCGAACTTATCAGGGAATCAGATGATGGCACTGAAGAACTTGAAGTGCGAATTCTGGTGCAAGCTCGGCCAGGCCAAGATAT
CAGACCCATCGGCCATGACATTAAAAGAGGGGAATGTGTTTTGGCCAAAGGAACCCACATGGGCCCCTCAGAGATTGGTCTTCTGGCAAC
TGTAGGTGTCACAGAGGTTGAAGTTAATAAGTTTCCAGTGGTTGCAGTCATGTCAACAGGGAATGAGCTGCTAAATCCTGAAGATGACCT
CTTACCAGGGAAGATTCGAGACAGCAATCGTTCAACTCTTCTAGCAACAATTCAGGAACATGGTTACCCCACGATCAACTTGGGTATTGT
AGGAGACAACCCAGATGACTTACTCAATGCCTTGAATGAGGGTATCAGTCGTGCTGATGTCATCATCACATCAGGGGGTGTATCCATGGG
GGAAAAGGACTATCTCAAGCAGGTGCTGGACATTGATCTTCATGCTCAGATCCATTTTGGCAGGGTTTTTATGAAACCAGGCTTGCCAAC
AACATTTGCAACTTTGGATATTGATGGTGTAAGAAAAATAATCTTTGCACTACCTGGGAATCCTGTATCGGCTGTGGTCACCTGCAATCT
CTTTGTTGTGCCTGCACTGAGGAAAATGCAGGGCATCTTGGATCCTCGGCCAACCATCATCAAAGCAAGGTTATCATGTGATGTAAAACT
TGATCCTCGTCCAGAATACCATCGGTGTATACTAACTTGGCATCACCAAGAACCACTACCTTGGGCACAGAGTACAGGTAATCAAATGAG
CAGCCGTCTGATGAGCATGCGCAGTGCCAATGGATTGTTGATGCTACCTCCAAAGACAGAACAGTACGTGGAGCTCCACAAAGGCGAGGT
GGTGGATGTCATGGTCATTGGACGGCTATGATGGTCACCAGCAGGAGAAAGCTTTGATGCATGTCCACATATCATTGACTGTATCCTGTA
ATATGCAACGGCACAGCTAGTTTTCCCGATTTGGATAAAAGTTGATCTGTATAGTCAACATCTTGAACTATATTTCAAATGAATTTAAAT
ATCTTTTAAAGAAAAAAACACCTAAAAATAAATCTTAACAGAAAATTCTGTTCTGATTATATCAAGGCAAATTTTTCCTTTCTTGCAAAT
TGCTTTGTGTGTTCAATGCTAGGTCTGATAGCGATAGCTTTTAGTAGACAGCGGTAGGTGCCTGCAGAACTTGTGTTTTTCTCATCTTTA
AAATACAACTACTTATGCTCTTAAATCAAGGCTGTCTGCTTATTTATACTAGCGTAGGCAACACTTGGATTTCCCTTCTTAGTATGCTTC
ATAACTGCTTTACAGAGAGCTTTTGCTTGTTCTTTCTCATGTATCTCGTGTTTATGTGCACAGTGCCAAAAGAAGACTGACTGGGTGGAG
GCTCTGCCTTGCCTCAAGAACCATCCCCTGCAGAGCATCCAGGGAGGTTTCTCGCCCCAATAGCCTCACGGCACAGTACTCTTGGGCAGT
AACTGGACACCTTTTATTTGAAGAAACAAACTGAAGAAAAAATGCTTCCTTAAGTGCTGACAGCCTTTTTAACCAATACATTTAAAATTG
TACAGAACAAAAAAATAAAATCAAAGACTGATCTTGTACAGATATTAGTGTTACCAGCATTCATGTGGAAATCAAGAGCAAAGACAAAAT

>25729_25729_3_EIF2S1-GPHN_EIF2S1_chr14_67841264_ENST00000466499_GPHN_chr14_67291192_ENST00000315266_length(amino acids)=776AA_BP=107
MPGLSCRFYQHKFPEVEDVVMVNVRSIAEMGAYVSLLEYNNIEGMILLSELSRRRIRSINKLIRIGRNECVVVIRVDKEKGYIDLSKRRV
SPEEAIKCEDKFTKSKTETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTL
IINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDS
SSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSP
FPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMR
VTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPV
VAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDL
HAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTW

--------------------------------------------------------------
>25729_25729_4_EIF2S1-GPHN_EIF2S1_chr14_67841264_ENST00000466499_GPHN_chr14_67291192_ENST00000478722_length(transcript)=4056nt_BP=1081nt
AATTGTAAATATCTTTAATGCTTGGAGGTTAAGAGAAACTTGAACTTTGTAGTAATGGAGATTAAAGCTATTCTCAAGATTAGGTATACC
TATTCAATAAAAGAAAGGAATATTTGGGAGTATTGGGGATAAGAGAAGCTAGACATTGTGAATTCAAGGAAAAAGAATTATGAGAGGAGG
ATGCATTTTAGTTTATTTTGTGATTAAAATTTTTTTAGTTTTTGTTGTTTTGACATGTGACACTGTAATTTTGGCTATAATAAATGACAG
AATGTATCATTTGGTATATTGGTTAGGGTTTAGGTAGAAAATTTTTTCCTTTATATAGTGAGTGGTAGCGTATACAATGTTTGCTCACTT
CGGCAAAGAGTAGCTTTAGTTTTCTGATTAGTTATAATAGTGATGCTTCCCATCATTTGATATGCCTTAAAGTAGTATTTTACTCTTGAG
GTATTCCTTTAATCCTTAGGTCTTGGAGTACTTTATAGATGGTCATTATTTTTTATGATTCCTCTGAAACTAAAGGCAGAGAATCACCCA
AGCATTACAAAAATGTTGAGCAAAATAAAAATTAAAGCTTGGTTCCTGAACATTATCTGTTTTCTGGTACCACTTAAGAAGTTTCAAAGG
ATGAGAAGACTAAGACTAATAACTATTTTTTTCTTCATCTTTTCTTTCAGTGGCAGGATGTGGAAATTGATTTTTTTTTTATTTTCACCT
TAACTGAATACTTACTTAATTCTTTTGTTTAAATTGCAGAATGCCGGGTCTAAGTTGTAGATTTTATCAACACAAATTTCCTGAGGTGGA
AGATGTAGTGATGGTGAATGTCAGATCCATTGCTGAAATGGGGGCTTATGTCAGCTTGCTGGAATACAACAACATTGAAGGCATGATTCT
TCTTAGTGAATTATCCAGAAGGCGTATCCGTTCTATCAACAAACTCATCCGAATTGGCAGGAATGAGTGTGTGGTTGTCATTAGGGTGGA
CAAAGAAAAAGGATATATTGATTTGTCAAAAAGAAGAGTTTCTCCAGAGGAAGCAATCAAATGTGAAGACAAATTCACAAAATCCAAAAC
TGAAACCCTGATAGATTGGTGTGATGAAAAGGAACTTAATTTGATATTAACAACTGGAGGAACAGGATTTGCACCACGAGATGTCACTCC
AGAGGCCACAAAAGAAGTAATAGAACGGGAAGCACCAGGGATGGCCCTGGCAATGCTGATGGGATCACTTAATGTTACACCTCTGGGCAT
GCTCTCTAGGCCTGTATGTGGAATCAGAGGGAAAACGCTCATAATTAACCTGCCAGGTAGCAAGAAAGGATCTCAGGAATGCTTTCAATT
CATACTGCCAGCTCTACCTCATGCCATTGACCTTTTACGTGATGCCATTGTAAAAGTAAAGGAGGTGCATGATGAACTTGAAGATTTGCC
TTCCCCACCTCCCCCTCTTTCCCCTCCTCCTACTACCAGCCCCCATAAACAGACAGAAGACAAAGGAGTTCAATGTGAGGAAGAGGAAGA
AGAGAAGAAAGACAGTGGTGTTGCTTCAACAGAAGATAGTTCCTCATCACATATAACTGCAGCAGCCATTGCTGCCAAGAAGCATCCATT
CTACACCAGTCCTGCTGTTGTCATGGCACACGGTGAACAGCCCATCCCTGGTCTCATCAATTATTCCCATCATTCAACAGATGAACGGAT
TCCAGACTCCATCATTTCTCGTGGTGTTCAGGTGCTCCCACGAGACACAGCCTCCCTCAGCACTACTCCTTCAGAATCGCCTCGTGCTCA
GGCTACATCTCGCCTCTCTACAGCTTCCTGCCCAACACCAAAAGTCCAGTCCAGGTGCAGCAGCAAGGAGAACATTCTCAGAGCCAGTCA
CAGTGCTGTCGATATCACCAAGGTGGCTAGAAGACATCGCATGTCTCCTTTTCCTCTGACATCTATGGACAAAGCCTTTATCACAGTCCT
GGAGATGACTCCGGTGCTTGGGACAGAAATCATCAATTACCGAGATGGAATGGGGCGAGTCCTTGCTCAAGATGTATATGCAAAAGACAA
TTTACCCCCCTTCCCAGCATCAGTAAAAGATGGCTATGCTGTCCGAGCTGCTGATGGCCCAGGAGATCGTTTCATCATTGGGGAATCCCA
AGCTGGTGAACAGCCAACTCAGACAGTAATGCCAGGACAAGTCATGCGGGTTACAACAGGTGCTCCAATACCCTGCGGTGCTGATGCAGT
AGTACAAGTGGAAGATACCGAACTTATCAGGGAATCAGATGATGGCACTGAAGAACTTGAAGTGCGAATTCTGGTGCAAGCTCGGCCAGG
CCAAGATATCAGACCCATCGGCCATGACATTAAAAGAGGGGAATGTGTTTTGGCCAAAGGAACCCACATGGGCCCCTCAGAGATTGGTCT
TCTGGCAACTGTAGGTGTCACAGAGGTTGAAGTTAATAAGTTTCCAGTGGTTGCAGTCATGTCAACAGGGAATGAGCTGCTAAATCCTGA
AGATGACCTCTTACCAGGGAAGATTCGAGACAGCAATCGTTCAACTCTTCTAGCAACAATTCAGGAACATGGTTACCCCACGATCAACTT
GGGTATTGTAGGAGACAACCCAGATGACTTACTCAATGCCTTGAATGAGGGTATCAGTCGTGCTGATGTCATCATCACATCAGGGGGTGT
ATCCATGGGGGAAAAGGACTATCTCAAGCAGGTGCTGGACATTGATCTTCATGCTCAGATCCATTTTGGCAGGGTTTTTATGAAACCAGG
CTTGCCAACAACATTTGCAACTTTGGATATTGATGGTGTAAGAAAAATAATCTTTGCACTACCTGGGAATCCTGTATCGGCTGTGGTCAC
CTGCAATCTCTTTGTTGTGCCTGCACTGAGGAAAATGCAGGGCATCTTGGATCCTCGGCCAACCATCATCAAAGCAAGGTTATCATGTGA
TGTAAAACTTGATCCTCGTCCAGAATACCATCGGTGTATACTAACTTGGCATCACCAAGAACCACTACCTTGGGCACAGAGTACAGGTAA
TCAAATGAGCAGCCGTCTGATGAGCATGCGCAGTGCCAATGGATTGTTGATGCTACCTCCAAAGACAGAACAGTACGTGGAGCTCCACAA
AGGCGAGGTGGTGGATGTCATGGTCATTGGACGGCTATGATGGTCACCAGCAGGAGAAAGCTTTGATGCATGTCCACATATCATTGACTG
TATCCTGTAATATGCAACGGCACAGCTAGTTTTCCCGATTTGGATAAAAGTTGATCTGTATAGTCAACATCTTGAACTATATTTCAAATG
AATTTAAATATCTTTTAAAGAAAAAAACACCTAAAAATAAATCTTAACAGAAAATTCTGTTCTGATTATATCAAGGCAAATTTTTCCTTT
CTTGCAAATTGCTTTGTGTGTTCAATGCTAGGTCTGATAGCGATAGCTTTTAGTAGACAGCGGTAGGTGCCTGCAGAACTTGTGTTTTTC
TCATCTTTAAAATACAACTACTTATGCTCTTAAATCAAGGCTGTCTGCTTATTTATACTAGCGTAGGCAACACTTGGATTTCCCTTCTTA
GTATGCTTCATAACTGCTTTACAGAGAGCTTTTGCTTGTTCTTTCTCATGTATCTCGTGTTTATGTGCACAGTGCCAAAAGAAGACTGAC
TGGGTGGAGGCTCTGCCTTGCCTCAAGAACCATCCCCTGCAGAGCATCCAGGGAGGTTTCTCGCCCCAATAGCCTCACGGCACAGTACTC
TTGGGCAGTAACTGGACACCTTTTATTTGAAGAAACAAACTGAAGAAAAAATGCTTCCTTAAGTGCTGACAGCCTTTTTAACCAATACAT
TTAAAATTGTACAGAACAAAAAAATAAAATCAAAGACTGATCTTGTACAGATATTAGTGTTACCAGCATTCATGTGGAAATCAAGAGCAA
AGACAAAATAATGTTAAACAATTCTGTACCATAACATTTTCTGTAATGATACTGAAACTTAATGAATAAAAAAATTCCTTGATCATTATT

>25729_25729_4_EIF2S1-GPHN_EIF2S1_chr14_67841264_ENST00000466499_GPHN_chr14_67291192_ENST00000478722_length(amino acids)=809AA_BP=107
MPGLSCRFYQHKFPEVEDVVMVNVRSIAEMGAYVSLLEYNNIEGMILLSELSRRRIRSINKLIRIGRNECVVVIRVDKEKGYIDLSKRRV
SPEEAIKCEDKFTKSKTETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTL
IINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDS
SSSHITAAAIAAKKHPFYTSPAVVMAHGEQPIPGLINYSHHSTDERIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTP
KVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYA
VRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRG
ECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNA
LNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQ

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

Top

Fusion Gene PPI Analysis for EIF2S1-GPHN


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
TgeneGPHNchr14:67841264chr14:67291192ENST00000315266222140_31667.0737.0GABARAP
TgeneGPHNchr14:67841264chr14:67291192ENST00000478722223140_31667.0770.0GABARAP


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 EIF2S1-GPHN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGPHNQ9NQX3DB03766Propanoic acidSmall moleculeApproved|Vet_approved
TgeneGPHNQ9NQX3DB03766Propanoic acidSmall moleculeApproved|Vet_approved
TgeneGPHNQ9NQX3DB03766Propanoic acidSmall moleculeApproved|Vet_approved

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Related Diseases for EIF2S1-GPHN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF2S1C0002395Alzheimer's Disease1CTD_human
HgeneEIF2S1C0009241Cognition Disorders1CTD_human
HgeneEIF2S1C0011265Presenile dementia1CTD_human
HgeneEIF2S1C0027746Nerve Degeneration1CTD_human
HgeneEIF2S1C0029463Osteosarcoma1CTD_human
HgeneEIF2S1C0036341Schizophrenia1PSYGENET
HgeneEIF2S1C0038220Status Epilepticus1CTD_human
HgeneEIF2S1C0270823Petit mal status1CTD_human
HgeneEIF2S1C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneEIF2S1C0311335Grand Mal Status Epilepticus1CTD_human
HgeneEIF2S1C0393734Complex Partial Status Epilepticus1CTD_human
HgeneEIF2S1C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneEIF2S1C0546126Acute Confusional Senile Dementia1CTD_human
HgeneEIF2S1C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneEIF2S1C0750901Alzheimer Disease, Early Onset1CTD_human
HgeneEIF2S1C0751522Status Epilepticus, Subclinical1CTD_human
HgeneEIF2S1C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneEIF2S1C0751524Simple Partial Status Epilepticus1CTD_human
TgeneC1854990Molybdenum Cofactor Deficiency, Complementation Group C5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0001956Alcohol Use Disorder1CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic1CTD_human
TgeneC0009171Cocaine Abuse1CTD_human
TgeneC0085762Alcohol abuse1CTD_human
TgeneC0236736Cocaine-Related Disorders1CTD_human
TgeneC0543888Epileptic encephalopathy1GENOMICS_ENGLAND
TgeneC0600427Cocaine Dependence1CTD_human