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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 RHOT1

check button Gene summary
Gene informationGene symbol

RHOT1

Gene ID

55288

Gene nameras homolog family member T1
SynonymsARHT1|MIRO-1|MIRO1
Cytomap

17q11.2

Type of geneprotein-coding
Descriptionmitochondrial Rho GTPase 1mitochondrial Rho (MIRO) GTPase 1rac-GTP binding protein-like proteinras homolog gene family, member T1
Modification date20180527
UniProtAcc

Q8IXI2

ContextPubMed: RHOT1 [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 RHOT1 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 RHOT1

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 RHOT1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1507541730469698:30469748:30498061:30498120:30500849:3050093130498061:30498120ENSG00000126858.12ENST00000394692.2,ENST00000358365.3,ENST00000581031.1,ENST00000581094.1,ENST00000545287.2
exon_skip_1507571730469698:30469748:30498065:30498120:30500849:3050093130498065:30498120ENSG00000126858.12ENST00000354266.3
exon_skip_1507641730498065:30498120:30499955:30500079:30500849:3050093130499955:30500079ENSG00000126858.12ENST00000578205.1,ENST00000583994.1
exon_skip_1507681730500849:30500931:30502337:30502381:30502980:3050303430502337:30502381ENSG00000126858.12ENST00000394692.2,ENST00000358365.3,ENST00000333942.6,ENST00000581031.1,ENST00000578205.1,ENST00000583994.1,ENST00000581094.1,ENST00000545287.2,ENST00000354266.3
exon_skip_1507721730502980:30503034:30503179:30503232:30509775:3050988430503179:30503232ENSG00000126858.12ENST00000394692.2,ENST00000358365.3,ENST00000333942.6,ENST00000581031.1,ENST00000578205.1,ENST00000583994.1,ENST00000581094.1,ENST00000545287.2,ENST00000354266.3
exon_skip_1507731730503179:30503232:30509775:30509884:30510189:3051029130509775:30509884ENSG00000126858.12ENST00000394692.2,ENST00000358365.3,ENST00000333942.6,ENST00000581031.1,ENST00000578205.1,ENST00000583994.1,ENST00000581094.1,ENST00000545287.2,ENST00000354266.3
exon_skip_1507761730527974:30528075:30529788:30529919:30530908:3053099230529788:30529919ENSG00000126858.12ENST00000394692.2,ENST00000358365.3,ENST00000333942.6,ENST00000581031.1,ENST00000578205.1,ENST00000583994.1,ENST00000581094.1,ENST00000545287.2,ENST00000354266.3
exon_skip_1507791730529788:30529919:30530908:30530992:30533928:3053404830530908:30530992ENSG00000126858.12ENST00000394692.2,ENST00000358365.3,ENST00000333942.6,ENST00000581031.1,ENST00000578205.1,ENST00000583994.1,ENST00000581094.1,ENST00000545287.2,ENST00000354266.3
exon_skip_1507821730530955:30530992:30533928:30534048:30535125:3053532830533928:30534048ENSG00000126858.12ENST00000394692.2,ENST00000358365.3,ENST00000333942.6,ENST00000581031.1,ENST00000578205.1,ENST00000583994.1,ENST00000582602.1,ENST00000581094.1,ENST00000545287.2,ENST00000354266.3,ENST00000580392.1
exon_skip_1507831730533968:30534048:30534530:30534582:30535125:3053532830534530:30534582ENSG00000126858.12ENST00000584692.1
exon_skip_1507861730535320:30535328:30536368:30536464:30538134:3053821430536368:30536464ENSG00000126858.12ENST00000358365.3
exon_skip_1507891730535320:30535328:30536368:30536464:30551634:3055197930536368:30536464ENSG00000126858.12ENST00000394692.2,ENST00000583994.1
exon_skip_1507941730535320:30535328:30538134:30538257:30551634:3055197930538134:30538257ENSG00000126858.12ENST00000545287.2
exon_skip_1507961730535320:30535328:30538134:30538257:30580103:3058039330538134:30538257ENSG00000126858.12ENST00000584852.1
exon_skip_1508011730536406:30536464:30538134:30538257:30551634:3055197930538134:30538257ENSG00000126858.12ENST00000358365.3
exon_skip_1508081730538134:30538257:30548067:30548205:30551634:3055197930548067:30548205ENSG00000126858.12ENST00000581031.1

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

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Exon skipping events with PSIs in GTEx for RHOT1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1507541730469698:30469748:30498061:30498120:30500849:3050093130498061:30498120ENSG00000126858.12ENST00000358365.3,ENST00000545287.2,ENST00000581031.1,ENST00000581094.1,ENST00000394692.2
exon_skip_1507571730469698:30469748:30498065:30498120:30500849:3050093130498065:30498120ENSG00000126858.12ENST00000354266.3
exon_skip_1507641730498065:30498120:30499955:30500079:30500849:3050093130499955:30500079ENSG00000126858.12ENST00000583994.1,ENST00000578205.1
exon_skip_1507681730500849:30500931:30502337:30502381:30502980:3050303430502337:30502381ENSG00000126858.12ENST00000333942.6,ENST00000358365.3,ENST00000583994.1,ENST00000545287.2,ENST00000354266.3,ENST00000581031.1,ENST00000581094.1,ENST00000578205.1,ENST00000394692.2
exon_skip_1507721730502980:30503034:30503179:30503232:30509775:3050988430503179:30503232ENSG00000126858.12ENST00000333942.6,ENST00000358365.3,ENST00000583994.1,ENST00000545287.2,ENST00000354266.3,ENST00000581031.1,ENST00000581094.1,ENST00000578205.1,ENST00000394692.2
exon_skip_1507731730503179:30503232:30509775:30509884:30510189:3051029130509775:30509884ENSG00000126858.12ENST00000333942.6,ENST00000358365.3,ENST00000583994.1,ENST00000545287.2,ENST00000354266.3,ENST00000581031.1,ENST00000581094.1,ENST00000578205.1,ENST00000394692.2
exon_skip_1507761730527974:30528075:30529788:30529919:30530908:3053099230529788:30529919ENSG00000126858.12ENST00000333942.6,ENST00000358365.3,ENST00000583994.1,ENST00000545287.2,ENST00000354266.3,ENST00000581031.1,ENST00000581094.1,ENST00000578205.1,ENST00000394692.2
exon_skip_1507791730529788:30529919:30530908:30530992:30533928:3053404830530908:30530992ENSG00000126858.12ENST00000333942.6,ENST00000358365.3,ENST00000583994.1,ENST00000545287.2,ENST00000354266.3,ENST00000581031.1,ENST00000581094.1,ENST00000578205.1,ENST00000394692.2
exon_skip_1507821730530955:30530992:30533928:30534048:30535125:3053532830533928:30534048ENSG00000126858.12ENST00000333942.6,ENST00000358365.3,ENST00000583994.1,ENST00000545287.2,ENST00000354266.3,ENST00000581031.1,ENST00000581094.1,ENST00000578205.1,ENST00000394692.2,ENST00000582602.1,ENST00000580392.1
exon_skip_1507831730533968:30534048:30534530:30534582:30535125:3053532830534530:30534582ENSG00000126858.12ENST00000584692.1
exon_skip_1507861730535320:30535328:30536368:30536464:30538134:3053821430536368:30536464ENSG00000126858.12ENST00000358365.3
exon_skip_1507891730535320:30535328:30536368:30536464:30551634:3055197930536368:30536464ENSG00000126858.12ENST00000583994.1,ENST00000394692.2
exon_skip_1507941730535320:30535328:30538134:30538257:30551634:3055197930538134:30538257ENSG00000126858.12ENST00000545287.2
exon_skip_1507961730535320:30535328:30538134:30538257:30580103:3058039330538134:30538257ENSG00000126858.12ENST00000584852.1
exon_skip_1508011730536406:30536464:30538134:30538257:30551634:3055197930538134:30538257ENSG00000126858.12ENST00000358365.3
exon_skip_1508081730538134:30538257:30548067:30548205:30551634:3055197930548067:30548205ENSG00000126858.12ENST00000581031.1

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 RHOT1

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
ENST000003339423050233730502381Frame-shift
ENST000003339423050317930503232Frame-shift
ENST000003339423050977530509884Frame-shift
ENST000003339423052978830529919Frame-shift
ENST000003339423053090830530992In-frame
ENST000003339423053392830534048In-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
ENST000003339423050233730502381Frame-shift
ENST000003339423050317930503232Frame-shift
ENST000003339423050977530509884Frame-shift
ENST000003339423052978830529919Frame-shift
ENST000003339423053090830530992In-frame
ENST000003339423053392830534048In-frame

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Infer the effects of exon skipping event on protein functional features for RHOT1

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
ENST000003339423150618305309083053099215721655444472
ENST000003339423150618305339283053404816561775472512

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
ENST000003339423150618305309083053099215721655444472
ENST000003339423150618305339283053404816561775472512

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 RHOT1

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-G3-A3CJ-01exon_skip_150773
30509776305098843050978230509782Frame_Shift_DelT-p.P112fs
MESOTCGA-3H-AB3O-01exon_skip_150776
30529789305299193052979230529792Frame_Shift_DelC-p.T402fs
LIHCTCGA-G3-A3CJ-01exon_skip_150782
30533929305340483053404130534041Frame_Shift_DelT-p.I510fs
LIHCTCGA-G3-A3CJ-01exon_skip_150789
exon_skip_150786
30536369305364643053645330536453Frame_Shift_DelA-p.L608fs
STADTCGA-BR-8361-01exon_skip_150776
30529789305299193052980030529801Frame_Shift_Ins-Ap.D404fs
BLCATCGA-XF-A9ST-01exon_skip_150782
30533929305340483053394830533948Nonsense_MutationCAp.S479*

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
639V_URINARY_TRACT30503180305032323050318330503183Missense_MutationAGp.T94A
H4_CENTRAL_NERVOUS_SYSTEM30503180305032323050321130503211Missense_MutationAGp.E103G
PANC0813_PANCREAS30509776305098843050978130509781Missense_MutationCTp.P112L
HEC251_ENDOMETRIUM30529789305299193052979730529797Missense_MutationGTp.D404Y
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30529789305299193052981130529811Missense_MutationCAp.D408E
LS411N_LARGE_INTESTINE30529789305299193052984030529840Missense_MutationTCp.V418A
HEC151_ENDOMETRIUM30529789305299193052985230529852Missense_MutationACp.N422T
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30530909305309923053092830530928Missense_MutationAGp.E451G
BICR18_UPPER_AERODIGESTIVE_TRACT30530909305309923053092930530929Missense_MutationATp.E451D
UMUC3_URINARY_TRACT30533929305340483053393530533935Missense_MutationGAp.D475N
CHAGOK1_LUNG30533929305340483053394830533948Missense_MutationCTp.S479L
BICR18_UPPER_AERODIGESTIVE_TRACT30533929305340483053400830534008Missense_MutationGCp.S499T
NCIH1155_LUNG30533929305340483053402330534023Missense_MutationTGp.F504C
NCIH630_LARGE_INTESTINE30503180305032323050321630503217Nonsense_MutationACTAp.T105*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RHOT1

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 RHOT1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RHOT1


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RelatedDrugs for RHOT1

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 RHOT1

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