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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for EIF2A

check button Gene summary
Gene informationGene symbol

EIF2A

Gene ID

83939

Gene nameeukaryotic translation initiation factor 2A
SynonymsCDA02|EIF-2A|MST089|MSTP004|MSTP089
Cytomap

3q25.1

Type of geneprotein-coding
Descriptioneukaryotic translation initiation factor 2A65 kDa eukaryotic translation initiation factor 2Aeukaryotic translation initiation factor 2A, 65kDa
Modification date20180523
UniProtAcc

Q9BY44

ContextPubMed: EIF2A [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for EIF2A from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for EIF2A

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for EIF2A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3787673150270142:150270212:150275371:150275465:150276174:150276249150275371:150275465ENSG00000144895.7ENST00000490505.1
exon_skip_3787703150270142:150270212:150276174:150276249:150280328:150280447150276174:150276249ENSG00000144895.7ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000469331.1,ENST00000406576.3,ENST00000462221.1,ENST00000460851.1
exon_skip_3787723150270142:150270212:150276174:150276249:150281301:150281401150276174:150276249ENSG00000144895.7ENST00000494558.1
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENSG00000144895.7ENST00000487799.1
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENSG00000144895.7ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000490505.1,ENST00000462221.1,ENST00000460851.1
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENSG00000144895.7ENST00000273435.5
exon_skip_3787813150276174:150276249:150281301:150281401:150282085:150282164150281301:150281401ENSG00000144895.7ENST00000494558.1
exon_skip_3787853150282085:150282168:150282977:150283013:150285479:150285553150282977:150283013ENSG00000144895.7ENST00000482093.1
exon_skip_3787883150282085:150282168:150285479:150285553:150285688:150285716150285479:150285553ENSG00000144895.7ENST00000487799.1,ENST00000494558.1,ENST00000273435.5,ENST00000462221.1,ENST00000460851.1
exon_skip_3787893150285983:150286079:150289744:150290316:150293435:150293549150289744:150290316ENSG00000144895.7ENST00000477551.1,ENST00000465535.1,ENST00000487799.1,ENST00000383043.3,ENST00000406576.3,ENST00000273435.5,ENST00000460851.1
exon_skip_3787993150290282:150290316:150293435:150293549:150299404:150299533150293435:150293549ENSG00000144895.7ENST00000477551.1,ENST00000487799.1,ENST00000383043.3,ENST00000406576.3,ENST00000273435.5,ENST00000460851.1
exon_skip_3788013150290282:150290316:150293435:150293549:150300986:150301052150293435:150293549ENSG00000144895.7ENST00000465535.1
exon_skip_3788023150290282:150290316:150299404:150299533:150300986:150301052150299404:150299533ENSG00000144895.7ENST00000482471.1
exon_skip_3788043150293435:150293549:150299404:150299533:150300986:150301052150299404:150299533ENSG00000144895.7ENST00000477551.1,ENST00000487799.1,ENST00000383043.3,ENST00000406576.3,ENST00000273435.5,ENST00000460851.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for EIF2A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3787673150270142:150270212:150275371:150275465:150276174:150276249150275371:150275465ENSG00000144895.7ENST00000490505.1
exon_skip_3787703150270142:150270212:150276174:150276249:150280328:150280447150276174:150276249ENSG00000144895.7ENST00000460851.1,ENST00000474505.1,ENST00000406576.3,ENST00000482093.1,ENST00000469331.1,ENST00000462221.1,ENST00000477551.1
exon_skip_3787723150270142:150270212:150276174:150276249:150281301:150281401150276174:150276249ENSG00000144895.7ENST00000494558.1
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENSG00000144895.7ENST00000487799.1
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENSG00000144895.7ENST00000460851.1,ENST00000474505.1,ENST00000482093.1,ENST00000490505.1,ENST00000462221.1,ENST00000477551.1
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENSG00000144895.7ENST00000273435.5
exon_skip_3787813150276174:150276249:150281301:150281401:150282085:150282164150281301:150281401ENSG00000144895.7ENST00000494558.1
exon_skip_3787853150282085:150282168:150282977:150283013:150285479:150285553150282977:150283013ENSG00000144895.7ENST00000482093.1
exon_skip_3787883150282085:150282168:150285479:150285553:150285688:150285716150285479:150285553ENSG00000144895.7ENST00000487799.1,ENST00000460851.1,ENST00000494558.1,ENST00000273435.5,ENST00000462221.1
exon_skip_3787893150285983:150286079:150289744:150290316:150293435:150293549150289744:150290316ENSG00000144895.7ENST00000487799.1,ENST00000460851.1,ENST00000406576.3,ENST00000273435.5,ENST00000477551.1,ENST00000383043.3,ENST00000465535.1
exon_skip_3787993150290282:150290316:150293435:150293549:150299404:150299533150293435:150293549ENSG00000144895.7ENST00000487799.1,ENST00000460851.1,ENST00000406576.3,ENST00000273435.5,ENST00000477551.1,ENST00000383043.3
exon_skip_3788013150290282:150290316:150293435:150293549:150300986:150301052150293435:150293549ENSG00000144895.7ENST00000465535.1
exon_skip_3788023150290282:150290316:150299404:150299533:150300986:150301052150299404:150299533ENSG00000144895.7ENST00000482471.1
exon_skip_3788043150293435:150293549:150299404:150299533:150300986:150301052150299404:150299533ENSG00000144895.7ENST00000487799.1,ENST00000460851.1,ENST00000406576.3,ENST00000273435.5,ENST00000477551.1,ENST00000383043.3

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for EIF2A

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000460851150280328150280447Frame-shift
ENST00000460851150285479150285553Frame-shift
ENST00000460851150289744150290316Frame-shift
ENST00000460851150276174150276249In-frame
ENST00000460851150293435150293549In-frame
ENST00000460851150299404150299533In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000460851150280328150280447Frame-shift
ENST00000460851150285479150285553Frame-shift
ENST00000460851150289744150290316Frame-shift
ENST00000460851150276174150276249In-frame
ENST00000460851150293435150293549In-frame
ENST00000460851150299404150299533In-frame

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Infer the effects of exon skipping event on protein functional features for EIF2A

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000046085122155851502761741502762492082823357
ENST00000460851221558515029343515029354914931606461499
ENST00000460851221558515029940415029953316071735499542

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000046085122155851502761741502762492082823357
ENST00000460851221558515029343515029354914931606461499
ENST00000460851221558515029940415029953316071735499542

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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SNVs in the skipped exons for EIF2A

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
EIF2A_COAD_exon_skip_378789_psi_boxplot.png
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EIF2A_LIHC_exon_skip_378789_psi_boxplot.png
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EIF2A_STAD_exon_skip_378789_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_378781
150281302150281401150281352150281352Frame_Shift_DelA-p.K115fs
LIHCTCGA-DD-A39Y-01exon_skip_378781
150281302150281401150281385150281385Frame_Shift_DelA-p.K127fs
COADTCGA-AM-5820-01exon_skip_378789
150289745150290316150289746150289746Frame_Shift_DelA-p.P271fs
STADTCGA-BR-8487-01exon_skip_378789
150289745150290316150289746150289746Frame_Shift_DelA-p.P271fs
UCECTCGA-D1-A17D-01exon_skip_378789
150289745150290316150289746150289746Frame_Shift_DelA-p.P271_splice
LIHCTCGA-G3-A3CJ-01exon_skip_378789
150289745150290316150290019150290019Frame_Shift_DelT-p.Y362fs
LIHCTCGA-DD-A39Y-01exon_skip_378801
exon_skip_378799
150293436150293549150293543150293543Frame_Shift_DelA-p.A497fs
LIHCTCGA-DD-A39Y-01exon_skip_378802
exon_skip_378804
150299405150299533150299448150299448Frame_Shift_DelC-p.A514fs
BLCATCGA-PQ-A6FI-01exon_skip_378802
exon_skip_378804
150299405150299533150299510150299510Frame_Shift_DelA-p.K536fs
COADTCGA-AA-3663-01exon_skip_378802
exon_skip_378804
150299405150299533150299510150299510Frame_Shift_DelA-p.D534fs
HNSCTCGA-IQ-A61O-01exon_skip_378802
exon_skip_378804
150299405150299533150299510150299510Frame_Shift_DelA-p.K536fs
LIHCTCGA-DD-A1EG-01exon_skip_378802
exon_skip_378804
150299405150299533150299510150299510Frame_Shift_DelA-p.K536fs
LIHCTCGA-G3-A3CJ-01exon_skip_378802
exon_skip_378804
150299405150299533150299510150299510Frame_Shift_DelA-p.K536fs
UCECTCGA-AP-A0LP-01exon_skip_378789
150289745150290316150289745150289746Frame_Shift_Ins-Ap.P271_splice
LIHCTCGA-BC-A112-01exon_skip_378789
150289745150290316150289971150289972Frame_Shift_Ins-Ap.VK346fs
LIHCTCGA-BC-A112-01exon_skip_378789
150289745150290316150290014150290015Frame_Shift_Ins-Cp.I361fs
READTCGA-EI-6507-01exon_skip_378802
exon_skip_378804
150299405150299533150299509150299510Frame_Shift_Ins-Ap.D534fs
UCECTCGA-D1-A177-01exon_skip_378781
150281302150281401150281337150281337Nonsense_MutationCTp.Q110*
UCECTCGA-AX-A0J0-01exon_skip_378781
150281302150281401150281343150281343Nonsense_MutationTGp.L103*
CESCTCGA-DR-A0ZM-01exon_skip_378801
exon_skip_378799
150293436150293549150293454150293454Nonsense_MutationCTp.Q468*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
EIF2A_150290282_150290316_150293435_150293549_150300986_150301052_TCGA-DR-A0ZM-01Sample: TCGA-DR-A0ZM-01
Cancer type: CESC
ESID: exon_skip_378799
Skipped exon start: 150293436
Skipped exon end: 150293549
Mutation start: 150293454
Mutation end: 150293454
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.Q468*
exon_skip_378799_CESC_TCGA-DR-A0ZM-01.png
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exon_skip_378801_CESC_TCGA-DR-A0ZM-01.png
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exon_skip_449028_CESC_TCGA-DR-A0ZM-01.png
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EIF2A_150290282_150290316_150293435_150293549_150300986_150301052_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_378781
Skipped exon start: 150281302
Skipped exon end: 150281401
Mutation start: 150281385
Mutation end: 150281385
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K127fs
EIF2A_150290282_150290316_150293435_150293549_150300986_150301052_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_378799
Skipped exon start: 150293436
Skipped exon end: 150293549
Mutation start: 150293543
Mutation end: 150293543
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.A497fs
EIF2A_150290282_150290316_150293435_150293549_150300986_150301052_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_378804
Skipped exon start: 150299405
Skipped exon end: 150299533
Mutation start: 150299448
Mutation end: 150299448
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.A514fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_111894_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_114045_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_114046_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_114565_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_1234_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_1237_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_124639_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_124693_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_124695_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_130535_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_13071_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_131505_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_133556_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_135211_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_135545_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_135553_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_135763_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_137564_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_138947_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_139222_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_141370_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_141945_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_143515_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_143728_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_14772_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_148319_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_148332_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_14897_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_150985_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_151979_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_153387_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_153494_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_153786_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_155021_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_155962_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_155964_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_19897_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_19898_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_19902_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_20050_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_20053_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_21823_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_22411_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_22908_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_23470_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_24870_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_25336_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_26316_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_26461_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_26958_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_27038_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_27415_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_283977_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_284046_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_289275_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_291046_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_291218_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_291361_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_292293_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_292562_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293040_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293045_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293052_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293118_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293546_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293549_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_294064_LIHC_TCGA-DD-A39Y-01.png
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EIF2A_150290282_150290316_150293435_150293549_150299404_150299533_TCGA-DR-A0ZM-01Sample: TCGA-DR-A0ZM-01
Cancer type: CESC
ESID: exon_skip_378799
Skipped exon start: 150293436
Skipped exon end: 150293549
Mutation start: 150293454
Mutation end: 150293454
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.Q468*
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EIF2A_150290282_150290316_150293435_150293549_150299404_150299533_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_378781
Skipped exon start: 150281302
Skipped exon end: 150281401
Mutation start: 150281385
Mutation end: 150281385
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K127fs
EIF2A_150290282_150290316_150293435_150293549_150299404_150299533_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_378799
Skipped exon start: 150293436
Skipped exon end: 150293549
Mutation start: 150293543
Mutation end: 150293543
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.A497fs
EIF2A_150290282_150290316_150293435_150293549_150299404_150299533_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_378804
Skipped exon start: 150299405
Skipped exon end: 150299533
Mutation start: 150299448
Mutation end: 150299448
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.A514fs
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EIF2A_150285983_150286079_150289744_150290316_150293435_150293549_TCGA-AM-5820-01Sample: TCGA-AM-5820-01
Cancer type: COAD
ESID: exon_skip_378789
Skipped exon start: 150289745
Skipped exon end: 150290316
Mutation start: 150289746
Mutation end: 150289746
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.P271fs
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EIF2A_150285983_150286079_150289744_150290316_150293435_150293549_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_378789
Skipped exon start: 150289745
Skipped exon end: 150290316
Mutation start: 150289971
Mutation end: 150289972
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: A
AAchange: p.VK346fs
EIF2A_150285983_150286079_150289744_150290316_150293435_150293549_TCGA-BC-A112-01Sample: TCGA-BC-A112-01
Cancer type: LIHC
ESID: exon_skip_378789
Skipped exon start: 150289745
Skipped exon end: 150290316
Mutation start: 150290014
Mutation end: 150290015
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: C
AAchange: p.I361fs
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE150285480150285553150285507150285507Frame_Shift_DelA-p.Q168fs
HCC1569_BREAST150289745150290316150289825150289825Frame_Shift_DelA-p.K298fs
JHUEM7_ENDOMETRIUM150299405150299533150299509150299510Frame_Shift_Ins-Ap.K535fs
KYSE510_OESOPHAGUS150299405150299533150299509150299510Frame_Shift_Ins-Ap.K535fs
YD10B_UPPER_AERODIGESTIVE_TRACT150299405150299533150299509150299510Frame_Shift_Ins-Ap.K535fs
BICR18_UPPER_AERODIGESTIVE_TRACT150276175150276249150276236150276236Missense_MutationGAp.G54S
MDAMB435S_SKIN150280329150280447150280349150280349Missense_MutationCAp.T65N
MDAMB435S_SKIN150280344150280447150280349150280349Missense_MutationCAp.T65N
GP5D_LARGE_INTESTINE150280329150280447150280361150280361Missense_MutationTCp.L69P
GP5D_LARGE_INTESTINE150280344150280447150280361150280361Missense_MutationTCp.L69P
SW756_CERVIX150280329150280447150280375150280375Missense_MutationGTp.D74Y
SW756_CERVIX150280344150280447150280375150280375Missense_MutationGTp.D74Y
SCC90_UPPER_AERODIGESTIVE_TRACT150280329150280447150280402150280402Missense_MutationTGp.F83V
SCC90_UPPER_AERODIGESTIVE_TRACT150280344150280447150280402150280402Missense_MutationTGp.F83V
HEC251_ENDOMETRIUM150281302150281401150281374150281374Missense_MutationCAp.S122Y
639V_URINARY_TRACT150289745150290316150289750150289750Missense_MutationACp.N273H
LN235_CENTRAL_NERVOUS_SYSTEM150289745150290316150289799150289799Missense_MutationGAp.C289Y
EN_ENDOMETRIUM150289745150290316150289805150289805Missense_MutationTCp.V291A
CAL54_KIDNEY150289745150290316150289882150289882Missense_MutationCTp.R317C
EFO27_OVARY150289745150290316150289996150289996Missense_MutationCTp.P355S
JHUEM1_ENDOMETRIUM150289745150290316150290078150290078Missense_MutationGAp.R382Q
HEC59_ENDOMETRIUM150289745150290316150290200150290200Missense_MutationGAp.A423T
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE150293436150293549150293524150293524Missense_MutationAGp.H491R
HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE150293436150293549150293524150293524Missense_MutationAGp.H491R
EW8_BONE150293436150293549150293439150293439Nonsense_MutationGTp.E463*
RH1_SOFT_TISSUE150293436150293549150293439150293439Nonsense_MutationGTp.E463*
IM95_STOMACH150293436150293549150293496150293496Nonsense_MutationATp.K482*
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE150299405150299533150299453150299453Nonsense_MutationCTp.Q516*
NCIH2126_LUNG150276175150276249150276175150276175Splice_SiteGTp.R33S
SNU46_UPPER_AERODIGESTIVE_TRACT150280329150280447150280443150280449Splice_SiteCACTAGT-p.YTS96fs
SNU46_UPPER_AERODIGESTIVE_TRACT150280344150280447150280443150280449Splice_SiteCACTAGT-p.YTS96fs
LS411N_LARGE_INTESTINE150293436150293549150293548150293548Splice_SiteAGp.Q499R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EIF2A

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENST00000487799.1CESCrs1132979chr3:150280445C/G1.02e-03
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENST00000487799.1COADrs1132979chr3:150280445C/G6.74e-06
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENST00000487799.1ESCArs1132979chr3:150280445C/G1.07e-04
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENST00000487799.1BRCArs1132979chr3:150280445C/G5.57e-06
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENST00000487799.1KIRCrs1132979chr3:150280445C/G2.22e-05
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENST00000487799.1LUSCrs1132979chr3:150280445C/G1.58e-04
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENST00000487799.1OVrs1132979chr3:150280445C/G1.19e-04
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENST00000487799.1STADrs1132979chr3:150280445C/G2.51e-04
exon_skip_3787733150270142:150270212:150280328:150280447:150281301:150281401150280328:150280447ENST00000487799.1THCArs1132979chr3:150280445C/G2.61e-04
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000490505.1,ENST00000462221.1,ENST00000460851.1CESCrs1132979chr3:150280445C/G1.02e-03
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000490505.1,ENST00000462221.1,ENST00000460851.1COADrs1132979chr3:150280445C/G6.74e-06
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000490505.1,ENST00000462221.1,ENST00000460851.1ESCArs1132979chr3:150280445C/G1.07e-04
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000490505.1,ENST00000462221.1,ENST00000460851.1BRCArs1132979chr3:150280445C/G5.57e-06
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000490505.1,ENST00000462221.1,ENST00000460851.1KIRCrs1132979chr3:150280445C/G2.22e-05
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000490505.1,ENST00000462221.1,ENST00000460851.1LUSCrs1132979chr3:150280445C/G1.58e-04
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000490505.1,ENST00000462221.1,ENST00000460851.1OVrs1132979chr3:150280445C/G1.19e-04
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000490505.1,ENST00000462221.1,ENST00000460851.1STADrs1132979chr3:150280445C/G2.51e-04
exon_skip_3787763150276174:150276249:150280328:150280447:150281301:150281401150280328:150280447ENST00000482093.1,ENST00000477551.1,ENST00000474505.1,ENST00000490505.1,ENST00000462221.1,ENST00000460851.1THCArs1132979chr3:150280445C/G2.61e-04
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENST00000273435.5CESCrs1132979chr3:150280445C/G1.02e-03
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENST00000273435.5COADrs1132979chr3:150280445C/G6.74e-06
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENST00000273435.5ESCArs1132979chr3:150280445C/G1.07e-04
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENST00000273435.5BRCArs1132979chr3:150280445C/G5.57e-06
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENST00000273435.5KIRCrs1132979chr3:150280445C/G2.22e-05
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENST00000273435.5LUSCrs1132979chr3:150280445C/G1.58e-04
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENST00000273435.5OVrs1132979chr3:150280445C/G1.19e-04
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENST00000273435.5STADrs1132979chr3:150280445C/G2.51e-04
exon_skip_3787793150276174:150276249:150280343:150280447:150281301:150281401150280343:150280447ENST00000273435.5THCArs1132979chr3:150280445C/G2.61e-04
exon_skip_3787883150282085:150282168:150285479:150285553:150285688:150285716150285479:150285553ENST00000487799.1,ENST00000494558.1,ENST00000273435.5,ENST00000462221.1,ENST00000460851.1BRCArs2293151chr3:150285520T/C1.48e-05
exon_skip_3787883150282085:150282168:150285479:150285553:150285688:150285716150285479:150285553ENST00000487799.1,ENST00000494558.1,ENST00000273435.5,ENST00000462221.1,ENST00000460851.1KIRCrs2293151chr3:150285520T/C3.44e-06
exon_skip_3787883150282085:150282168:150285479:150285553:150285688:150285716150285479:150285553ENST00000487799.1,ENST00000494558.1,ENST00000273435.5,ENST00000462221.1,ENST00000460851.1LUADrs2293151chr3:150285520T/C1.95e-04
exon_skip_3787883150282085:150282168:150285479:150285553:150285688:150285716150285479:150285553ENST00000487799.1,ENST00000494558.1,ENST00000273435.5,ENST00000462221.1,ENST00000460851.1LUSCrs2293151chr3:150285520T/C4.90e-04
exon_skip_3787883150282085:150282168:150285479:150285553:150285688:150285716150285479:150285553ENST00000487799.1,ENST00000494558.1,ENST00000273435.5,ENST00000462221.1,ENST00000460851.1OVrs2293151chr3:150285520T/C1.09e-04
exon_skip_3787883150282085:150282168:150285479:150285553:150285688:150285716150285479:150285553ENST00000487799.1,ENST00000494558.1,ENST00000273435.5,ENST00000462221.1,ENST00000460851.1PRADrs2293151chr3:150285520T/C5.64e-06
exon_skip_3787883150282085:150282168:150285479:150285553:150285688:150285716150285479:150285553ENST00000487799.1,ENST00000494558.1,ENST00000273435.5,ENST00000462221.1,ENST00000460851.1STADrs2293151chr3:150285520T/C2.31e-09
exon_skip_3787883150282085:150282168:150285479:150285553:150285688:150285716150285479:150285553ENST00000487799.1,ENST00000494558.1,ENST00000273435.5,ENST00000462221.1,ENST00000460851.1THCArs2293151chr3:150285520T/C1.75e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF2A


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF2A


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RelatedDrugs for EIF2A

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EIF2A

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
EIF2AC0035126Reperfusion Injury1CTD_human
EIF2AC0151744Myocardial Ischemia1CTD_human