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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 METTL8

check button Gene summary
Gene informationGene symbol

METTL8

Gene ID

79828

Gene namemethyltransferase like 8
SynonymsTIP
Cytomap

2q31.1

Type of geneprotein-coding
Descriptionmethyltransferase-like protein 8tension-induced/inhibited protein
Modification date20180526
UniProtAcc

Q9H825

ContextPubMed: METTL8 [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 METTL8 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 METTL8

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 METTL8

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3448092172180752:172180872:172182350:172182416:172187068:172187126172182350:172182416ENSG00000123600.14ENST00000447486.1,ENST00000392604.2
exon_skip_3448142172182350:172182416:172182551:172182658:172187068:172187126172182551:172182658ENSG00000123600.14ENST00000375258.4,ENST00000483284.1,ENST00000438609.1,ENST00000460188.1
exon_skip_3448172172182551:172182658:172187068:172187126:172188313:172188377172187068:172187126ENSG00000123600.14ENST00000460188.1
exon_skip_3448182172182551:172182658:172187068:172187208:172188313:172188377172187068:172187208ENSG00000123600.14ENST00000375258.4,ENST00000483284.1
exon_skip_3448242172187134:172187208:172188274:172188377:172193962:172194012172188274:172188377ENSG00000123600.14ENST00000438609.1
exon_skip_3448262172187134:172187208:172188313:172188377:172193962:172194012172188313:172188377ENSG00000123600.14ENST00000375258.4,ENST00000447486.1,ENST00000392604.2
exon_skip_3448292172188317:172188377:172193962:172194012:172195693:172195723172193962:172194012ENSG00000123600.14ENST00000375258.4,ENST00000447486.1,ENST00000438609.1,ENST00000392604.2
exon_skip_3448322172193981:172194012:172195693:172196064:172216931:172217023172195693:172196064ENSG00000123600.14ENST00000375258.4,ENST00000462821.1,ENST00000447486.1,ENST00000392604.2
exon_skip_3448332172196050:172196064:172216931:172217023:172248552:172248707172216931:172217023ENSG00000123600.14ENST00000375258.4,ENST00000453846.1,ENST00000442778.1,ENST00000442541.1,ENST00000392599.2,ENST00000392604.2
exon_skip_3448342172196050:172196064:172216931:172217023:172271112:172271236172216931:172217023ENSG00000123600.14ENST00000447486.1
exon_skip_3448362172196050:172196064:172216931:172217023:172291183:172291290172216931:172217023ENSG00000123600.14ENST00000462821.1
exon_skip_3448422172216931:172217023:172248552:172248707:172271112:172271236172248552:172248707ENSG00000123600.14ENST00000453846.1,ENST00000392604.2
exon_skip_3448432172216931:172217023:172248552:172248707:172289535:172289626172248552:172248707ENSG00000123600.14ENST00000442541.1
exon_skip_3448442172216931:172217023:172248552:172248707:172290392:172290500172248552:172248707ENSG00000123600.14ENST00000392599.2
exon_skip_3448452172216931:172217023:172248552:172248707:172291183:172291290172248552:172248707ENSG00000123600.14ENST00000442778.1
exon_skip_3448472172216931:172217023:172271112:172271236:172290392:172290500172271112:172271236ENSG00000123600.14ENST00000447486.1
exon_skip_3448512172248552:172248707:172271112:172271236:172290392:172290500172271112:172271236ENSG00000123600.14ENST00000392604.2
exon_skip_3448522172248552:172248707:172271112:172271236:172291183:172291290172271112:172271236ENSG00000123600.14ENST00000453846.1
exon_skip_3448532172248552:172248707:172289535:172289729:172290392:172290500172289535:172289729ENSG00000123600.14ENST00000442541.1

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

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Exon skipping events with PSIs in GTEx for METTL8

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3448092172180752:172180872:172182350:172182416:172187068:172187126172182350:172182416ENSG00000123600.14ENST00000447486.1,ENST00000392604.2
exon_skip_3448142172182350:172182416:172182551:172182658:172187068:172187126172182551:172182658ENSG00000123600.14ENST00000375258.4,ENST00000483284.1,ENST00000438609.1,ENST00000460188.1
exon_skip_3448242172187134:172187208:172188274:172188377:172193962:172194012172188274:172188377ENSG00000123600.14ENST00000438609.1
exon_skip_3448262172187134:172187208:172188313:172188377:172193962:172194012172188313:172188377ENSG00000123600.14ENST00000375258.4,ENST00000447486.1,ENST00000392604.2
exon_skip_3448292172188317:172188377:172193962:172194012:172195693:172195723172193962:172194012ENSG00000123600.14ENST00000375258.4,ENST00000447486.1,ENST00000438609.1,ENST00000392604.2
exon_skip_3448322172193981:172194012:172195693:172196064:172216931:172217023172195693:172196064ENSG00000123600.14ENST00000375258.4,ENST00000447486.1,ENST00000392604.2,ENST00000462821.1
exon_skip_3448332172196050:172196064:172216931:172217023:172248552:172248707172216931:172217023ENSG00000123600.14ENST00000375258.4,ENST00000392604.2,ENST00000392599.2,ENST00000442778.1,ENST00000453846.1,ENST00000442541.1
exon_skip_3448342172196050:172196064:172216931:172217023:172271112:172271236172216931:172217023ENSG00000123600.14ENST00000447486.1
exon_skip_3448362172196050:172196064:172216931:172217023:172291183:172291290172216931:172217023ENSG00000123600.14ENST00000462821.1
exon_skip_3448422172216931:172217023:172248552:172248707:172271112:172271236172248552:172248707ENSG00000123600.14ENST00000392604.2,ENST00000453846.1
exon_skip_3448432172216931:172217023:172248552:172248707:172289535:172289626172248552:172248707ENSG00000123600.14ENST00000442541.1
exon_skip_3448442172216931:172217023:172248552:172248707:172290392:172290500172248552:172248707ENSG00000123600.14ENST00000392599.2
exon_skip_3448452172216931:172217023:172248552:172248707:172291183:172291290172248552:172248707ENSG00000123600.14ENST00000442778.1
exon_skip_3448472172216931:172217023:172271112:172271236:172290392:172290500172271112:172271236ENSG00000123600.14ENST00000447486.1
exon_skip_3448512172248552:172248707:172271112:172271236:172290392:172290500172271112:172271236ENSG00000123600.14ENST00000392604.2
exon_skip_3448522172248552:172248707:172271112:172271236:172291183:172291290172271112:172271236ENSG00000123600.14ENST00000453846.1
exon_skip_3448532172248552:172248707:172289535:172289729:172290392:172290500172289535:172289729ENSG00000123600.14ENST00000442541.1

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 METTL8

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

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

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Infer the effects of exon skipping event on protein functional features for METTL8

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

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

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 METTL8

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-A3A0-01exon_skip_344809
172182351172182416172182398172182398Frame_Shift_DelT-p.N329fs
LIHCTCGA-DD-A1EG-01exon_skip_344814
172182552172182658172182611172182611Frame_Shift_DelC-p.G303fs
LIHCTCGA-G3-A3CJ-01exon_skip_344832
172195694172196064172195727172195727Frame_Shift_DelA-p.F191fs
LIHCTCGA-DD-A3A0-01exon_skip_344832
172195694172196064172195760172195760Frame_Shift_DelT-p.K180fs
LIHCTCGA-DD-A39Y-01exon_skip_344832
172195694172196064172195780172195780Frame_Shift_DelA-p.S174fs
LIHCTCGA-DD-A1EG-01exon_skip_344832
172195694172196064172195839172195839Frame_Shift_DelT-p.N154fs
LIHCTCGA-DD-A39Y-01exon_skip_344832
172195694172196064172195839172195839Frame_Shift_DelT-p.N154fs
STADTCGA-BR-8361-01exon_skip_344832
172195694172196064172195839172195839Frame_Shift_DelT-p.N154fs
LIHCTCGA-DD-A39Y-01exon_skip_344832
172195694172196064172195897172195897Frame_Shift_DelT-p.T135fs
LIHCTCGA-DD-A3A0-01exon_skip_344832
172195694172196064172195897172195897Frame_Shift_DelT-p.T135fs
LIHCTCGA-G3-A3CJ-01exon_skip_344832
172195694172196064172195897172195897Frame_Shift_DelT-p.T135fs
LIHCTCGA-G3-A3CJ-01exon_skip_344832
172195694172196064172195998172195998Frame_Shift_DelA-p.F101fs
LIHCTCGA-DD-A3A0-01exon_skip_344832
172195694172196064172196023172196023Frame_Shift_DelA-p.Y93fs
LIHCTCGA-G3-A3CJ-01exon_skip_344836
exon_skip_344834
exon_skip_344833
172216932172217023172216969172216969Frame_Shift_DelT-p.K66fs
LIHCTCGA-DD-A1EG-01exon_skip_344836
exon_skip_344834
exon_skip_344833
172216932172217023172216975172216975Frame_Shift_DelT-p.K64fs
LIHCTCGA-DD-A39Y-01exon_skip_344836
exon_skip_344834
exon_skip_344833
172216932172217023172216975172216975Frame_Shift_DelT-p.K64fs
LIHCTCGA-DD-A3A0-01exon_skip_344836
exon_skip_344834
exon_skip_344833
172216932172217023172216975172216975Frame_Shift_DelT-p.K64fs
CESCTCGA-MU-A5YI-01exon_skip_344814
172182552172182658172182597172182597Nonsense_MutationGAp.R308*
UCECTCGA-AP-A0LE-01exon_skip_344836
exon_skip_344834
exon_skip_344833
172216932172217023172216953172216953Nonsense_MutationGAp.R72*
LUSCTCGA-39-5016-01exon_skip_344832
172195694172196064172195693172195693Splice_SiteCGp.E202_splice
UCECTCGA-BG-A187-01exon_skip_344842
exon_skip_344843
exon_skip_344844
exon_skip_344845
172248553172248707172248708172248708Splice_SiteCGe1-1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE172216932172217023172216975172216975Frame_Shift_DelT-p.K64fs
SNU1_STOMACH172195694172196064172195750172195751Frame_Shift_Ins-Tp.G184fs
VCAP_PROSTATE172195694172196064172196003172196008In_Frame_DelCTTATT-p.NK98del
SNUC5_LARGE_INTESTINE172182351172182416172182375172182375Missense_MutationTCp.T337A
HEC251_ENDOMETRIUM172182351172182416172182395172182395Missense_MutationACp.F330C
NCIH835_LUNG172187069172187126172187075172187075Missense_MutationGCp.P285R
NCIH835_LUNG172187069172187208172187075172187075Missense_MutationGCp.P285R
SNU1040_LARGE_INTESTINE172187069172187208172187175172187175Missense_MutationCTp.A252T
JHUEM7_ENDOMETRIUM172188314172188377172188352172188352Missense_MutationAGp.C228R
JHUEM7_ENDOMETRIUM172188275172188377172188352172188352Missense_MutationAGp.C228R
CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE172188314172188377172188369172188369Missense_MutationGAp.P222L
CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE172188275172188377172188369172188369Missense_MutationGAp.P222L
BICR78_UPPER_AERODIGESTIVE_TRACT172195694172196064172195757172195757Missense_MutationGTp.H181Q
GBM001_CENTRAL_NERVOUS_SYSTEM172195694172196064172195757172195757Missense_MutationGTp.H181Q
GIMEN_AUTONOMIC_GANGLIA172195694172196064172195757172195757Missense_MutationGTp.H181Q
JAR_PLACENTA172195694172196064172195757172195757Missense_MutationGTp.H181Q
LN464_CENTRAL_NERVOUS_SYSTEM172195694172196064172195757172195757Missense_MutationGTp.H181Q
OC316_OVARY172195694172196064172195757172195757Missense_MutationGTp.H181Q
PACADD161_PANCREAS172195694172196064172195757172195757Missense_MutationGTp.H181Q
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE172195694172196064172195757172195757Missense_MutationGTp.H181Q
EBC1_LUNG172195694172196064172195758172195758Missense_MutationTCp.H181R
LN464_CENTRAL_NERVOUS_SYSTEM172195694172196064172195759172195759Missense_MutationGTp.H181N
DMS114_LUNG172195694172196064172195777172195777Missense_MutationTCp.N175D
A375_SKIN172195694172196064172195837172195837Missense_MutationGAp.H155Y
MDAMB361_BREAST172195694172196064172195837172195837Missense_MutationGAp.H155Y
DOV13_OVARY172195694172196064172195855172195855Missense_MutationCTp.V149M
HS294T_SKIN172195694172196064172195855172195855Missense_MutationCTp.V149M
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE172195694172196064172195866172195866Missense_MutationTCp.H145R
T3M10_LUNG172195694172196064172195885172195885Missense_MutationTCp.N139D
JHUEM7_ENDOMETRIUM172195694172196064172196014172196014Missense_MutationGTp.H96N
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE172195694172196064172196028172196028Missense_MutationGAp.T91I
ISTMES2_PLEURA172195694172196064172196044172196044Missense_MutationTAp.S86C
MDAPCA2B_PROSTATE172216932172217023172217018172217018Missense_MutationTCp.H50R
WM983B_SKIN172248553172248707172248682172248682Missense_MutationCGp.W5S
SNU1040_LARGE_INTESTINE172182552172182658172182597172182597Nonsense_MutationGAp.R308*
NCIH1435_LUNG172187069172187208172187184172187184Nonsense_MutationGAp.Q249*
SNU423_LIVER172187069172187208172187201172187201Nonsense_MutationGTp.S243*
HT115_LARGE_INTESTINE172195694172196064172196050172196050Nonsense_MutationCAp.E84*
WM983B_SKIN172248553172248707172248681172248681Nonsense_MutationCTp.W5*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for METTL8

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 METTL8


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for METTL8


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RelatedDrugs for METTL8

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 METTL8

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