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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 GFM2

check button Gene summary
Gene informationGene symbol

GFM2

Gene ID

84340

Gene nameG elongation factor mitochondrial 2
SynonymsEF-G2mt|EFG2|MRRF2|MST027|MSTP027|RRF2|RRF2mt|hEFG2|mEF-G 2
Cytomap

5q13.3

Type of geneprotein-coding
Descriptionribosome-releasing factor 2, mitochondrialmitochondrial elongation factor G2mitochondrial ribosome recycling factor 2
Modification date20180523
UniProtAcc

Q969S9

ContextPubMed: GFM2 [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
GFM2

GO:0032543

mitochondrial translation

19716793

GFM2

GO:0032790

ribosome disassembly

19716793

GFM2

GO:0070125

mitochondrial translational elongation

19716793


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Exon skipping events across known transcript of Ensembl for GFM2 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 GFM2

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 GFM2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_442653574018203:74018386:74021464:74021580:74021765:7402195174021464:74021580ENSG00000164347.13ENST00000296805.3,ENST00000509430.1,ENST00000345239.2
exon_skip_442655574021765:74021951:74026084:74026223:74026426:7402660074026084:74026223ENSG00000164347.13ENST00000514734.1
exon_skip_442657574021765:74021951:74026084:74026223:74028846:7402892374026084:74026223ENSG00000164347.13ENST00000296805.3,ENST00000509430.1,ENST00000345239.2
exon_skip_442661574021765:74021951:74028846:74028923:74032620:7403278874028846:74028923ENSG00000164347.13ENST00000515125.1
exon_skip_442664574026084:74026223:74026426:74026600:74028846:7402892374026426:74026600ENSG00000164347.13ENST00000514734.1
exon_skip_442665574034142:74034242:74034326:74034467:74035813:7403595674034326:74034467ENSG00000164347.13ENST00000427854.2,ENST00000296805.3,ENST00000509430.1
exon_skip_442666574041502:74041682:74041929:74041990:74043516:7404360574041929:74041990ENSG00000164347.13ENST00000427854.2,ENST00000296805.3,ENST00000509430.1,ENST00000345239.2,ENST00000509097.1
exon_skip_442667574043516:74043605:74046403:74046492:74054673:7405477174046403:74046492ENSG00000164347.13ENST00000509097.1
exon_skip_442668574046403:74046492:74047192:74047318:74054673:7405477174047192:74047318ENSG00000164347.13ENST00000427854.2,ENST00000296805.3,ENST00000509430.1,ENST00000345239.2
exon_skip_442669574047203:74047318:74054673:74054771:74055193:7405525174054673:74054771ENSG00000164347.13ENST00000506778.1,ENST00000427854.2,ENST00000296805.3,ENST00000509430.1,ENST00000345239.2
exon_skip_442672574056726:74056811:74059504:74059591:74062762:7406288674059504:74059591ENSG00000164347.13ENST00000427854.2,ENST00000345239.2,ENST00000509097.1
exon_skip_442675574059518:74059591:74060859:74060977:74062762:7406288674060859:74060977ENSG00000164347.13ENST00000509430.1

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

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Exon skipping events with PSIs in GTEx for GFM2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_442653574018203:74018386:74021464:74021580:74021765:7402195174021464:74021580ENSG00000164347.13ENST00000296805.3,ENST00000345239.2,ENST00000509430.1
exon_skip_442654574018203:74018386:74021765:74021951:74028846:7402892374021765:74021951ENSG00000164347.13ENST00000515125.1
exon_skip_442655574021765:74021951:74026084:74026223:74026426:7402660074026084:74026223ENSG00000164347.13ENST00000514734.1
exon_skip_442657574021765:74021951:74026084:74026223:74028846:7402892374026084:74026223ENSG00000164347.13ENST00000296805.3,ENST00000345239.2,ENST00000509430.1
exon_skip_442661574021765:74021951:74028846:74028923:74032620:7403278874028846:74028923ENSG00000164347.13ENST00000515125.1
exon_skip_442664574026084:74026223:74026426:74026600:74028846:7402892374026426:74026600ENSG00000164347.13ENST00000514734.1
exon_skip_442665574034142:74034242:74034326:74034467:74035813:7403595674034326:74034467ENSG00000164347.13ENST00000296805.3,ENST00000509430.1,ENST00000427854.2
exon_skip_442666574041502:74041682:74041929:74041990:74043516:7404360574041929:74041990ENSG00000164347.13ENST00000296805.3,ENST00000345239.2,ENST00000509430.1,ENST00000427854.2,ENST00000509097.1
exon_skip_442667574043516:74043605:74046403:74046492:74054673:7405477174046403:74046492ENSG00000164347.13ENST00000509097.1
exon_skip_442668574046403:74046492:74047192:74047318:74054673:7405477174047192:74047318ENSG00000164347.13ENST00000296805.3,ENST00000345239.2,ENST00000509430.1,ENST00000427854.2
exon_skip_442669574047203:74047318:74054673:74054771:74055193:7405525174054673:74054771ENSG00000164347.13ENST00000296805.3,ENST00000345239.2,ENST00000509430.1,ENST00000427854.2,ENST00000506778.1
exon_skip_442672574056726:74056811:74059504:74059591:74062762:7406288674059504:74059591ENSG00000164347.13ENST00000345239.2,ENST00000427854.2,ENST00000509097.1
exon_skip_442675574059518:74059591:74060859:74060977:74062762:7406288674060859:74060977ENSG00000164347.13ENST00000509430.1

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 GFM2

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
ENST0000050943074060859740609773UTR-3UTR
ENST000002968057402146474021580Frame-shift
ENST000005094307402146474021580Frame-shift
ENST000002968057402608474026223Frame-shift
ENST000005094307402608474026223Frame-shift
ENST000002968057404192974041990Frame-shift
ENST000005094307404192974041990Frame-shift
ENST000002968057405467374054771Frame-shift
ENST000005094307405467374054771Frame-shift
ENST000002968057403432674034467In-frame
ENST000005094307403432674034467In-frame
ENST000002968057404719274047318In-frame
ENST000005094307404719274047318In-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
ENST0000050943074060859740609773UTR-3UTR
ENST000002968057402146474021580Frame-shift
ENST000005094307402146474021580Frame-shift
ENST000002968057402608474026223Frame-shift
ENST000005094307402608474026223Frame-shift
ENST000002968057404192974041990Frame-shift
ENST000005094307404192974041990Frame-shift
ENST000002968057405467374054771Frame-shift
ENST000005094307405467374054771Frame-shift
ENST000002968057403432674034467In-frame
ENST000005094307403432674034467In-frame
ENST000002968057404719274047318In-frame
ENST000005094307404719274047318In-frame

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Infer the effects of exon skipping event on protein functional features for GFM2

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
ENST0000029680532667797404719274047318763888101143
ENST0000050943030647797404719274047318615740101143
ENST000002968053266779740343267403446715381678360406
ENST000005094303064779740343267403446713901530360406

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
ENST0000029680532667797404719274047318763888101143
ENST0000050943030647797404719274047318615740101143
ENST000002968053266779740343267403446715381678360406
ENST000005094303064779740343267403446713901530360406

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
Q969S91011431779ChainID=PRO_0000007450;Note=Ribosome-releasing factor 2%2C mitochondrial
Q969S91011431779ChainID=PRO_0000007450;Note=Ribosome-releasing factor 2%2C mitochondrial
Q969S910114368353DomainNote=tr-type G
Q969S910114368353DomainNote=tr-type G
Q969S9101143141145Nucleotide bindingNote=GTP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03059
Q969S9101143141145Nucleotide bindingNote=GTP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03059
Q969S9360406361407Alternative sequenceID=VSP_001363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q969S9360406361407Alternative sequenceID=VSP_001363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q969S93604061779ChainID=PRO_0000007450;Note=Ribosome-releasing factor 2%2C mitochondrial
Q969S93604061779ChainID=PRO_0000007450;Note=Ribosome-releasing factor 2%2C mitochondrial


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
Q969S91011431779ChainID=PRO_0000007450;Note=Ribosome-releasing factor 2%2C mitochondrial
Q969S91011431779ChainID=PRO_0000007450;Note=Ribosome-releasing factor 2%2C mitochondrial
Q969S910114368353DomainNote=tr-type G
Q969S910114368353DomainNote=tr-type G
Q969S9101143141145Nucleotide bindingNote=GTP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03059
Q969S9101143141145Nucleotide bindingNote=GTP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03059
Q969S9360406361407Alternative sequenceID=VSP_001363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q969S9360406361407Alternative sequenceID=VSP_001363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q969S93604061779ChainID=PRO_0000007450;Note=Ribosome-releasing factor 2%2C mitochondrial
Q969S93604061779ChainID=PRO_0000007450;Note=Ribosome-releasing factor 2%2C mitochondrial


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SNVs in the skipped exons for GFM2

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.

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-A39Y-01exon_skip_442655
exon_skip_442657
74026085740262237402620274026202Frame_Shift_DelC-p.E537fs
STADTCGA-VQ-A8P2-01exon_skip_442665
74034327740344677403439274034392Frame_Shift_DelA-p.F385fs
STADTCGA-VQ-A8P2-01exon_skip_442665
74034327740344677403439274034392Frame_Shift_DelA-p.M386fs
LIHCTCGA-DD-A39Y-01exon_skip_442668
74047193740473187404726474047264Frame_Shift_DelC-p.G120fs
LIHCTCGA-G3-A3CJ-01exon_skip_442669
74054674740547717405472874054728Frame_Shift_DelT-p.T87fs
HNSCTCGA-P3-A6T7-01exon_skip_442655
exon_skip_442657
74026085740262237402619474026195Frame_Shift_Ins-Tp.H539fs
STADTCGA-BR-4361-01exon_skip_442655
exon_skip_442657
74026085740262237402611874026118Nonsense_MutationGAp.R565*
STADTCGA-BR-4361-01exon_skip_442655
exon_skip_442657
74026085740262237402611874026118Nonsense_MutationGAp.R565X
STADTCGA-BR-8680-01exon_skip_442668
74047193740473187404727474047274Nonsense_MutationGAp.R117*
STADTCGA-BR-8680-01exon_skip_442668
74047193740473187404727474047274Nonsense_MutationGAp.R117X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
GFM2_74021765_74021951_74026084_74026223_74028846_74028923_TCGA-BR-4361-01Sample: TCGA-BR-4361-01
Cancer type: STAD
ESID: exon_skip_442657
Skipped exon start: 74026085
Skipped exon end: 74026223
Mutation start: 74026118
Mutation end: 74026118
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R565X
GFM2_74021765_74021951_74026084_74026223_74028846_74028923_TCGA-BR-4361-01Sample: TCGA-BR-4361-01
Cancer type: STAD
ESID: exon_skip_442657
Skipped exon start: 74026085
Skipped exon end: 74026223
Mutation start: 74026118
Mutation end: 74026118
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R565*
exon_skip_110606_STAD_TCGA-BR-4361-01.png
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exon_skip_293444_STAD_TCGA-BR-4361-01.png
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exon_skip_30776_STAD_TCGA-BR-4361-01.png
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exon_skip_30782_STAD_TCGA-BR-4361-01.png
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exon_skip_30792_STAD_TCGA-BR-4361-01.png
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exon_skip_309972_STAD_TCGA-BR-4361-01.png
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exon_skip_326683_STAD_TCGA-BR-4361-01.png
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exon_skip_328488_STAD_TCGA-BR-4361-01.png
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exon_skip_365627_STAD_TCGA-BR-4361-01.png
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exon_skip_425876_STAD_TCGA-BR-4361-01.png
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exon_skip_43854_STAD_TCGA-BR-4361-01.png
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exon_skip_439047_STAD_TCGA-BR-4361-01.png
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exon_skip_439048_STAD_TCGA-BR-4361-01.png
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exon_skip_442657_STAD_TCGA-BR-4361-01.png
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exon_skip_447822_STAD_TCGA-BR-4361-01.png
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exon_skip_489149_STAD_TCGA-BR-4361-01.png
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exon_skip_59757_STAD_TCGA-BR-4361-01.png
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exon_skip_80320_STAD_TCGA-BR-4361-01.png
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GFM2_74021765_74021951_74026084_74026223_74028846_74028923_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_442657
Skipped exon start: 74026085
Skipped exon end: 74026223
Mutation start: 74026202
Mutation end: 74026202
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.E537fs
GFM2_74021765_74021951_74026084_74026223_74028846_74028923_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_442668
Skipped exon start: 74047193
Skipped exon end: 74047318
Mutation start: 74047264
Mutation end: 74047264
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G120fs
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_1237_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_148332_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_21823_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_26316_LIHC_TCGA-DD-A39Y-01.png
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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
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74034327740344677403433074034330Missense_MutationCTp.C406Y
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74034327740344677403439074034390Missense_MutationAGp.M386T
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74034327740344677403439974034399Missense_MutationAGp.L383P
KM12_LARGE_INTESTINE74034327740344677403442074034420Missense_MutationTCp.H376R
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74046404740464927404643674046436Missense_MutationCTp.V163M
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74047193740473187404724374047243Missense_MutationGAp.A127V
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74047193740473187404725674047256Missense_MutationTCp.I123V
HT55_LARGE_INTESTINE74047193740473187404730974047309Missense_MutationTAp.D105V
AGS_STOMACH74047193740473187404731074047310Missense_MutationCTp.D105N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GFM2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GFM2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GFM2


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RelatedDrugs for GFM2

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 GFM2

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