|
Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:EIF2S1-GPHN (FusionGDB2 ID:25705) |
Fusion Gene Summary for EIF2S1-GPHN |
Fusion gene summary |
Fusion gene information | Fusion gene name: EIF2S1-GPHN | Fusion gene ID: 25705 | Hgene | Tgene | Gene symbol | EIF2S1 | GPHN | Gene ID | 1965 | 10243 |
Gene name | eukaryotic translation initiation factor 2 subunit alpha | gephyrin | |
Synonyms | EIF-2|EIF-2A|EIF-2alpha|EIF2|EIF2A | GEPH|GPH|GPHRYN|HKPX1|MOCODC | |
Cytomap | 14q23.3 | 14q23.3-q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | eukaryotic translation initiation factor 2 subunit 1eIF-2-alphaeukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa | gephyrin | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | P05198 | Q9NQX3 | |
Ensembl transtripts involved in fusion gene | ENST00000256383, ENST00000466499, | ENST00000315266, ENST00000478722, ENST00000459628, ENST00000543237, ENST00000305960, ENST00000544752, | |
Fusion gene scores | * DoF score | 4 X 5 X 5=100 | 42 X 51 X 15=32130 |
# samples | 8 | 62 | |
** MAII score | log2(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 breakpoint | EIF2S1(67827173)-GPHN(67576857), # samples:3 GPHN(67147903)-EIF2S1(67831484), # samples:1 | ||
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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | GPHN | GO:0032324 | molybdopterin cofactor biosynthetic process | 26613940 |
Tgene | GPHN | GO:0097112 | gamma-aminobutyric acid receptor clustering | 26613940 |
Fusion 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. |
Fusion 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. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-GM-A2DB-01A | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
ChimerDB4 | ESCA | TCGA-LN-A5U5-01A | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
ChimerDB4 | ESCA | TCGA-LN-A5U5 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
ChimerDB4 | ESCA | TCGA-LN-A5U5 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
ChimerDB4 | ESCA | TCGA-LN-A5U5 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
ChimerDB4 | BRCA | TCGA-GM-A2DB-01A | EIF2S1 | chr14 | 67841264 | - | GPHN | chr14 | 67291192 | + |
ChimerDB4 | ESCA | TCGA-LN-A5U5-01A | EIF2S1 | chr14 | 67827173 | - | GPHN | chr14 | 67576857 | + |
ChimerDB4 | STAD | TCGA-LN-A5U5-01A3 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
Top |
Fusion Gene ORF analysis for EIF2S1-GPHN |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000256383 | ENST00000315266 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
In-frame | ENST00000256383 | ENST00000478722 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
5CDS-intron | ENST00000256383 | ENST00000459628 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
5CDS-intron | ENST00000256383 | ENST00000543237 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
5CDS-intron | ENST00000256383 | ENST00000305960 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
5CDS-3UTR | ENST00000256383 | ENST00000544752 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
In-frame | ENST00000466499 | ENST00000315266 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
In-frame | ENST00000466499 | ENST00000478722 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
5CDS-intron | ENST00000466499 | ENST00000459628 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
5CDS-intron | ENST00000466499 | ENST00000543237 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
5CDS-intron | ENST00000466499 | ENST00000305960 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
5CDS-3UTR | ENST00000466499 | ENST00000544752 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + |
5UTR-3CDS | ENST00000256383 | ENST00000315266 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
5UTR-3CDS | ENST00000256383 | ENST00000478722 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
5UTR-intron | ENST00000256383 | ENST00000459628 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
5UTR-intron | ENST00000256383 | ENST00000543237 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
5UTR-intron | ENST00000256383 | ENST00000305960 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
5UTR-3UTR | ENST00000256383 | ENST00000544752 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
intron-3CDS | ENST00000466499 | ENST00000315266 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
intron-3CDS | ENST00000466499 | ENST00000478722 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
intron-intron | ENST00000466499 | ENST00000459628 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
intron-intron | ENST00000466499 | ENST00000543237 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
intron-intron | ENST00000466499 | ENST00000305960 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
intron-3UTR | ENST00000466499 | ENST00000544752 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576857 | + |
5UTR-3CDS | ENST00000256383 | ENST00000315266 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
5UTR-3CDS | ENST00000256383 | ENST00000478722 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
5UTR-intron | ENST00000256383 | ENST00000459628 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
5UTR-intron | ENST00000256383 | ENST00000543237 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
5UTR-intron | ENST00000256383 | ENST00000305960 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
5UTR-3UTR | ENST00000256383 | ENST00000544752 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
intron-3CDS | ENST00000466499 | ENST00000315266 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
intron-3CDS | ENST00000466499 | ENST00000478722 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
intron-intron | ENST00000466499 | ENST00000459628 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
intron-intron | ENST00000466499 | ENST00000543237 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
intron-intron | ENST00000466499 | ENST00000305960 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
intron-3UTR | ENST00000466499 | ENST00000544752 | EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + |
5UTR-3CDS | ENST00000256383 | ENST00000315266 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
5UTR-3CDS | ENST00000256383 | ENST00000478722 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
5UTR-intron | ENST00000256383 | ENST00000459628 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
5UTR-intron | ENST00000256383 | ENST00000543237 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
5UTR-intron | ENST00000256383 | ENST00000305960 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
5UTR-3UTR | ENST00000256383 | ENST00000544752 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
intron-3CDS | ENST00000466499 | ENST00000315266 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
intron-3CDS | ENST00000466499 | ENST00000478722 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
intron-intron | ENST00000466499 | ENST00000459628 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
intron-intron | ENST00000466499 | ENST00000543237 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
intron-intron | ENST00000466499 | ENST00000305960 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
intron-3UTR | ENST00000466499 | ENST00000544752 | EIF2S1 | chr14 | 67827172 | + | GPHN | chr14 | 67576856 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000256383 | EIF2S1 | chr14 | 67841264 | + | ENST00000315266 | GPHN | chr14 | 67291192 | + | 3653 | 782 | 461 | 2791 | 776 |
ENST00000256383 | EIF2S1 | chr14 | 67841264 | + | ENST00000478722 | GPHN | chr14 | 67291192 | + | 3757 | 782 | 461 | 2890 | 809 |
ENST00000466499 | EIF2S1 | chr14 | 67841264 | + | ENST00000315266 | GPHN | chr14 | 67291192 | + | 3952 | 1081 | 760 | 3090 | 776 |
ENST00000466499 | EIF2S1 | chr14 | 67841264 | + | ENST00000478722 | GPHN | chr14 | 67291192 | + | 4056 | 1081 | 760 | 3189 | 809 |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000256383 | ENST00000315266 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + | 0.002428031 | 0.997572 |
ENST00000256383 | ENST00000478722 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + | 0.002038626 | 0.9979614 |
ENST00000466499 | ENST00000315266 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + | 0.001734447 | 0.99826556 |
ENST00000466499 | ENST00000478722 | EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291192 | + | 0.001429208 | 0.9985708 |
Top |
Fusion Genomic Features for EIF2S1-GPHN |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + | 0.082189195 | 0.9178108 |
EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + | 0.082189195 | 0.9178108 |
EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + | 0.082189195 | 0.9178108 |
EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291191 | + | 0.000506722 | 0.99949324 |
EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + | 0.082189195 | 0.9178108 |
EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + | 0.082189195 | 0.9178108 |
EIF2S1 | chr14 | 67827173 | + | GPHN | chr14 | 67576856 | + | 0.082189195 | 0.9178108 |
EIF2S1 | chr14 | 67841264 | + | GPHN | chr14 | 67291191 | + | 0.000506722 | 0.99949324 |
Distribution 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. |
Distribution 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. |
Top |
Fusion Protein Features for EIF2S1-GPHN |
Go to FGviewer for the breakpoints of chr14:67841264-chr14:67291192 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
EIF2S1 | GPHN |
FUNCTION: Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:16289705). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S pre-initiation complex (PubMed:16289705). Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex (PubMed:16289705). In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B (PubMed:16289705). EIF2S1/eIF-2-alpha is a key component of the integrated stress response (ISR), required for adaptation to various stress: phosphorylation by metabolic-stress sensing protein kinases (EIF2AK1/HRI, EIF2AK2/PKR, EIF2AK3/PERK and EIF2AK4/GCN2) in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming (PubMed:19131336). {ECO:0000269|PubMed:16289705, ECO:0000269|PubMed:19131336}. | 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}. |
Retention 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 * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | EIF2S1 | chr14:67841264 | chr14:67291192 | ENST00000256383 | + | 3 | 8 | 17_88 | 107.0 | 316.0 | Domain | S1 motif |
Hgene | EIF2S1 | chr14:67841264 | chr14:67291192 | ENST00000466499 | + | 2 | 7 | 17_88 | 107.0 | 316.0 | Domain | S1 motif |
Tgene | GPHN | chr14:67841264 | chr14:67291192 | ENST00000315266 | 2 | 22 | 326_736 | 67.0 | 737.0 | Region | Note=MPT adenylyltransferase | |
Tgene | GPHN | chr14:67841264 | chr14:67291192 | ENST00000478722 | 2 | 23 | 326_736 | 67.0 | 770.0 | Region | Note=MPT adenylyltransferase |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | GPHN | chr14:67841264 | chr14:67291192 | ENST00000315266 | 2 | 22 | 14_166 | 67.0 | 737.0 | Region | Note=MPT Mo-transferase | |
Tgene | GPHN | chr14:67841264 | chr14:67291192 | ENST00000478722 | 2 | 23 | 14_166 | 67.0 | 770.0 | Region | Note=MPT Mo-transferase |
Top |
Fusion Gene Sequence for EIF2S1-GPHN |
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. |
>In-frame_ENST00000256383_ENST00000315266_TCGA-GM-A2DB-01A_EIF2S1_chr14_67841264_+_GPHN_chr14_67291192_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 >In-frame_ENST00000256383_ENST00000315266_TCGA-GM-A2DB-01A_EIF2S1_chr14_67841264_+_GPHN_chr14_67291192_length(amino acids)=776AA_start in transcript=461_stop in transcript=2791 MPGLSCRFYQHKFPEVEDVVMVNVRSIAEMGAYVSLLEYNNIEGMILLSELSRRRIRSINKLIRIGRNECVVVIRVDKEKGYIDLSKRRV SPEEAIKCEDKFTKSKTETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTL IINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDS SSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSP FPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMR VTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPV VAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDL HAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTW -------------------------------------------------------------- >In-frame_ENST00000256383_ENST00000478722_TCGA-GM-A2DB-01A_EIF2S1_chr14_67841264_+_GPHN_chr14_67291192_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 >In-frame_ENST00000256383_ENST00000478722_TCGA-GM-A2DB-01A_EIF2S1_chr14_67841264_+_GPHN_chr14_67291192_length(amino acids)=809AA_start in transcript=461_stop in transcript=2890 MPGLSCRFYQHKFPEVEDVVMVNVRSIAEMGAYVSLLEYNNIEGMILLSELSRRRIRSINKLIRIGRNECVVVIRVDKEKGYIDLSKRRV SPEEAIKCEDKFTKSKTETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTL IINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDS SSSHITAAAIAAKKHPFYTSPAVVMAHGEQPIPGLINYSHHSTDERIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTP KVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYA VRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRG ECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNA LNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQ -------------------------------------------------------------- >In-frame_ENST00000466499_ENST00000315266_TCGA-GM-A2DB-01A_EIF2S1_chr14_67841264_+_GPHN_chr14_67291192_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 >In-frame_ENST00000466499_ENST00000315266_TCGA-GM-A2DB-01A_EIF2S1_chr14_67841264_+_GPHN_chr14_67291192_length(amino acids)=776AA_start in transcript=760_stop in transcript=3090 MPGLSCRFYQHKFPEVEDVVMVNVRSIAEMGAYVSLLEYNNIEGMILLSELSRRRIRSINKLIRIGRNECVVVIRVDKEKGYIDLSKRRV SPEEAIKCEDKFTKSKTETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTL IINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDS SSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSP FPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMR VTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPV VAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDL HAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTW -------------------------------------------------------------- >In-frame_ENST00000466499_ENST00000478722_TCGA-GM-A2DB-01A_EIF2S1_chr14_67841264_+_GPHN_chr14_67291192_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 >In-frame_ENST00000466499_ENST00000478722_TCGA-GM-A2DB-01A_EIF2S1_chr14_67841264_+_GPHN_chr14_67291192_length(amino acids)=809AA_start in transcript=760_stop in transcript=3189 MPGLSCRFYQHKFPEVEDVVMVNVRSIAEMGAYVSLLEYNNIEGMILLSELSRRRIRSINKLIRIGRNECVVVIRVDKEKGYIDLSKRRV SPEEAIKCEDKFTKSKTETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTL IINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDS SSSHITAAAIAAKKHPFYTSPAVVMAHGEQPIPGLINYSHHSTDERIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTP KVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYA VRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRG ECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNA LNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQ -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for EIF2S1-GPHN |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Tgene | GPHN | chr14:67841264 | chr14:67291192 | ENST00000315266 | 2 | 22 | 140_316 | 67.0 | 737.0 | GABARAP | |
Tgene | GPHN | chr14:67841264 | chr14:67291192 | ENST00000478722 | 2 | 23 | 140_316 | 67.0 | 770.0 | GABARAP |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for EIF2S1-GPHN |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | GPHN | Q9NQX3 | DB03766 | Propanoic acid | Small molecule | Approved|Vet_approved | |
Tgene | GPHN | Q9NQX3 | DB03766 | Propanoic acid | Small molecule | Approved|Vet_approved | |
Tgene | GPHN | Q9NQX3 | DB03766 | Propanoic acid | Small molecule | Approved|Vet_approved |
Top |
Related Diseases for EIF2S1-GPHN |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EIF2S1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Hgene | EIF2S1 | C0009241 | Cognition Disorders | 1 | CTD_human |
Hgene | EIF2S1 | C0011265 | Presenile dementia | 1 | CTD_human |
Hgene | EIF2S1 | C0027746 | Nerve Degeneration | 1 | CTD_human |
Hgene | EIF2S1 | C0029463 | Osteosarcoma | 1 | CTD_human |
Hgene | EIF2S1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | EIF2S1 | C0038220 | Status Epilepticus | 1 | CTD_human |
Hgene | EIF2S1 | C0270823 | Petit mal status | 1 | CTD_human |
Hgene | EIF2S1 | C0276496 | Familial Alzheimer Disease (FAD) | 1 | CTD_human |
Hgene | EIF2S1 | C0311335 | Grand Mal Status Epilepticus | 1 | CTD_human |
Hgene | EIF2S1 | C0393734 | Complex Partial Status Epilepticus | 1 | CTD_human |
Hgene | EIF2S1 | C0494463 | Alzheimer Disease, Late Onset | 1 | CTD_human |
Hgene | EIF2S1 | C0546126 | Acute Confusional Senile Dementia | 1 | CTD_human |
Hgene | EIF2S1 | C0750900 | Alzheimer's Disease, Focal Onset | 1 | CTD_human |
Hgene | EIF2S1 | C0750901 | Alzheimer Disease, Early Onset | 1 | CTD_human |
Hgene | EIF2S1 | C0751522 | Status Epilepticus, Subclinical | 1 | CTD_human |
Hgene | EIF2S1 | C0751523 | Non-Convulsive Status Epilepticus | 1 | CTD_human |
Hgene | EIF2S1 | C0751524 | Simple Partial Status Epilepticus | 1 | CTD_human |
Tgene | GPHN | C1854990 | Molybdenum Cofactor Deficiency, Complementation Group C | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | GPHN | C0001956 | Alcohol Use Disorder | 1 | CTD_human |
Tgene | GPHN | C0001973 | Alcoholic Intoxication, Chronic | 1 | CTD_human |
Tgene | GPHN | C0009171 | Cocaine Abuse | 1 | CTD_human |
Tgene | GPHN | C0085762 | Alcohol abuse | 1 | CTD_human |
Tgene | GPHN | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
Tgene | GPHN | C0543888 | Epileptic encephalopathy | 1 | GENOMICS_ENGLAND |
Tgene | GPHN | C0600427 | Cocaine Dependence | 1 | CTD_human |