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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 RAI1

check button Gene summary
Gene informationGene symbol

RAI1

Gene ID

10743

Gene nameretinoic acid induced 1
SynonymsSMCR|SMS
Cytomap

17p11.2

Type of geneprotein-coding
Descriptionretinoic acid-induced protein 1Smith-Magenis syndrome chromosome region
Modification date20180523
UniProtAcc

Q7Z5J4

ContextPubMed: RAI1 [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
RAI1

GO:0045893

positive regulation of transcription, DNA-templated

22578325


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Exon skipping events across known transcript of Ensembl for RAI1 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 RAI1

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 RAI1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1494541717586859:17587017:17627341:17627473:17696246:1769645717627341:17627473ENSG00000108557.13ENST00000471135.2
exon_skip_1494551717627341:17627473:17696246:17701827:17707069:1770716317696246:17701827ENSG00000108557.13ENST00000353383.1
exon_skip_1494571717707069:17707163:17712703:17712753:17713283:1771400317712703:17712753ENSG00000108557.13ENST00000353383.1

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

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Exon skipping events with PSIs in GTEx for RAI1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1494541717586859:17587017:17627341:17627473:17696246:1769645717627341:17627473ENSG00000108557.13ENST00000471135.2
exon_skip_1494551717627341:17627473:17696246:17701827:17707069:1770716317696246:17701827ENSG00000108557.13ENST00000353383.1
exon_skip_1494571717707069:17707163:17712703:17712753:17713283:1771400317712703:17712753ENSG00000108557.13ENST00000353383.1

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 RAI1

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
ENST0000035338317696246177018275CDS-5UTR
ENST000003533831771270317712753Frame-shift

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
ENST0000035338317696246177018275CDS-5UTR
ENST000003533831771270317712753Frame-shift

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Infer the effects of exon skipping event on protein functional features for RAI1

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 RAI1

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.
RAI1_COAD_exon_skip_149455_psi_boxplot.png
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RAI1_ESCA_exon_skip_149455_psi_boxplot.png
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RAI1_HNSC_exon_skip_149455_psi_boxplot.png
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RAI1_PAAD_exon_skip_149455_psi_boxplot.png
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RAI1_SKCM_exon_skip_149455_psi_boxplot.png
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RAI1_STAD_exon_skip_149455_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
PCPGTCGA-QR-A6H4-01exon_skip_149455
17696247177018271769633717696350Frame_Shift_DelACGCCTAGAGAATT-p.25_29del
PCPGTCGA-QR-A6H4-01exon_skip_149455
17696247177018271769633717696350Frame_Shift_DelACGCCTAGAGAATT-p.SRLENY25fs
SKCMTCGA-W3-A824-06exon_skip_149455
17696247177018271769662417696624Frame_Shift_DelG-p.W121fs
STADTCGA-BR-4292-01exon_skip_149455
17696247177018271769662417696624Frame_Shift_DelG-p.W121fs
UCECTCGA-D1-A0ZO-01exon_skip_149455
17696247177018271769662417696624Frame_Shift_DelG-p.W121fs
STADTCGA-HU-A4GU-01exon_skip_149455
17696247177018271769663017696630Frame_Shift_DelC-p.A123fs
ESCATCGA-L5-A4OI-01exon_skip_149455
17696247177018271769671617696716Frame_Shift_DelC-p.P153fs
ESCATCGA-L5-A4OI-01exon_skip_149455
17696247177018271769671617696716Frame_Shift_DelC-p.S154fs
ESCATCGA-L5-A4OI-01exon_skip_149455
17696247177018271769671617696716Frame_Shift_DelC-p.V151fs
STADTCGA-BR-4362-01exon_skip_149455
17696247177018271769671617696716Frame_Shift_DelC-p.V151fs
LIHCTCGA-DD-A39Y-01exon_skip_149455
17696247177018271769679717696797Frame_Shift_DelC-p.P179fs
LIHCTCGA-DD-A3A0-01exon_skip_149455
17696247177018271769679717696797Frame_Shift_DelC-p.P179fs
LIHCTCGA-DD-A3A0-01exon_skip_149455
17696247177018271769687117696871Frame_Shift_DelC-p.F203fs
LIHCTCGA-G3-A3CJ-01exon_skip_149455
17696247177018271769687117696871Frame_Shift_DelC-p.F203fs
LIHCTCGA-G3-A3CJ-01exon_skip_149455
17696247177018271769691017696910Frame_Shift_DelC-p.F216fs
LIHCTCGA-DD-A3A0-01exon_skip_149455
17696247177018271769695517696955Frame_Shift_DelG-p.Q231fs
BRCATCGA-A2-A1FV-01exon_skip_149455
17696247177018271769709917697100Frame_Shift_DelGC-p.Q280fs
BRCATCGA-C8-A27B-01exon_skip_149455
17696247177018271769709917697100Frame_Shift_DelGC-p.Q280fs
BRCATCGA-D8-A1XR-01exon_skip_149455
17696247177018271769709917697100Frame_Shift_DelGC-p.Q280fs
ESCATCGA-IG-A6QS-01exon_skip_149455
17696247177018271769709917697100Frame_Shift_DelGC-p.Q280fs
LIHCTCGA-DD-A3A0-01exon_skip_149455
17696247177018271769729417697294Frame_Shift_DelC-p.H344fs
LIHCTCGA-DD-A3A0-01exon_skip_149455
17696247177018271769813717698137Frame_Shift_DelT-p.A625fs
COADTCGA-AZ-6598-01exon_skip_149455
17696247177018271769823717698237Frame_Shift_DelC-p.W658fs
COADTCGA-AD-6895-01exon_skip_149455
17696247177018271769850817698508Frame_Shift_DelA-p.E749fs
LIHCTCGA-DD-A3A0-01exon_skip_149455
17696247177018271769860617698606Frame_Shift_DelG-p.G782fs
STADTCGA-CD-A4MG-01exon_skip_149455
17696247177018271769865317698653Frame_Shift_DelC-p.D797fs
UCSTCGA-N7-A4Y0-01exon_skip_149455
17696247177018271769865317698653Frame_Shift_DelC-p.D797fs
HNSCTCGA-BA-4078-01exon_skip_149455
17696247177018271769894617698946Frame_Shift_DelC-p.A895fs
DLBCTCGA-FF-8042-01exon_skip_149455
17696247177018271769909417699095Frame_Shift_DelCT-p.944_944del
LUADTCGA-MP-A4TD-01exon_skip_149455
17696247177018271769935917699359Frame_Shift_DelC-p.P1034fs
UCECTCGA-BG-A18B-01exon_skip_149455
17696247177018271769935917699359Frame_Shift_DelC-p.P1033fs
BLCATCGA-4Z-AA80-01exon_skip_149455
17696247177018271769949617699496Frame_Shift_DelT-p.P1078fs
LIHCTCGA-G3-A3CJ-01exon_skip_149455
17696247177018271770031017700310Frame_Shift_DelG-p.G1350fs
COADTCGA-CM-4743-01exon_skip_149455
17696247177018271770062217700622Frame_Shift_DelG-p.A1453fs
SKCMTCGA-WE-AAA0-06exon_skip_149455
17696247177018271770092417700924Frame_Shift_DelG-p.K1554fs
LIHCTCGA-DD-A3A0-01exon_skip_149455
17696247177018271770103717701037Frame_Shift_DelC-p.T1592fs
LIHCTCGA-DD-A3A0-01exon_skip_149455
17696247177018271770112317701123Frame_Shift_DelC-p.P1621fs
LIHCTCGA-DD-A3A0-01exon_skip_149455
17696247177018271770112917701129Frame_Shift_DelC-p.P1623fs
HNSCTCGA-QK-AA3K-01exon_skip_149455
17696247177018271770139817701398Frame_Shift_DelC-p.L1712fs
COADTCGA-G4-6628-01exon_skip_149455
17696247177018271769671517696716Frame_Shift_Ins-Cp.V151fs
LUADTCGA-78-7535-01exon_skip_149455
17696247177018271769695317696954Frame_Shift_Ins-Ap.G231fs
LUADTCGA-78-7535-01exon_skip_149455
17696247177018271769695317696954Frame_Shift_Ins-Ap.Q231fs
SKCMTCGA-EE-A2GO-06exon_skip_149455
17696247177018271769935817699359Frame_Shift_Ins-Cp.GP1032fs
BLCATCGA-4Z-AA83-01exon_skip_149455
17696247177018271769984617699847Frame_Shift_Ins-Gp.E1196fs
KICHTCGA-KO-8404-01exon_skip_149455
17696247177018271770080417700805Frame_Shift_Ins-Cp.R1514fs
THCATCGA-FE-A22Z-01exon_skip_149455
17696247177018271769627517696275Nonsense_MutationCTp.R5*
THCATCGA-FE-A22Z-01exon_skip_149455
17696247177018271769627517696275Nonsense_MutationCTp.R5X
BRCATCGA-BH-A0HL-01exon_skip_149455
17696247177018271769769717697697Nonsense_MutationCTp.Q479*
BLCATCGA-XF-AAMG-01exon_skip_149455
17696247177018271769772817697728Nonsense_MutationCGp.S489*
BLCATCGA-4Z-AA89-01exon_skip_149455
17696247177018271769775517697755Nonsense_MutationCGp.S498*
BLCATCGA-E7-A5KE-01exon_skip_149455
17696247177018271769775517697755Nonsense_MutationCGp.S498*
LUADTCGA-80-5607-01exon_skip_149455
17696247177018271769797917697979Nonsense_MutationCTp.Q573*
STADTCGA-BR-7707-01exon_skip_149455
17696247177018271769855217698552Nonsense_MutationGTp.E764*
STADTCGA-BR-7707-01exon_skip_149455
17696247177018271769855217698552Nonsense_MutationGTp.E764X
PAADTCGA-IB-7651-01exon_skip_149455
17696247177018271769900317699003Nonsense_MutationGAp.W914*
PAADTCGA-IB-7651-01exon_skip_149455
17696247177018271769900317699003Nonsense_MutationGAp.W914X
BLCATCGA-2F-A9KQ-01exon_skip_149455
17696247177018271769902917699029Nonsense_MutationGTp.E923*
ESCATCGA-L5-A4OI-01exon_skip_149455
17696247177018271769906517699065Nonsense_MutationGTp.E935X
SKCMTCGA-EB-A431-01exon_skip_149455
17696247177018271769907717699077Nonsense_MutationCTp.Q939*
SKCMTCGA-EB-A431-01exon_skip_149455
17696247177018271769907717699077Nonsense_MutationCTp.Q939X
STADTCGA-BR-4361-01exon_skip_149455
17696247177018271770016917700169Nonsense_MutationATp.K1303*
STADTCGA-BR-4361-01exon_skip_149455
17696247177018271770016917700169Nonsense_MutationATp.K1303X
SKCMTCGA-ER-A2NC-06exon_skip_149455
17696247177018271770019317700193Nonsense_MutationCTp.Q1311*
SKCMTCGA-ER-A2NC-06exon_skip_149455
17696247177018271770019317700193Nonsense_MutationCTp.Q1311X
KIRPTCGA-5P-A9JV-01exon_skip_149455
17696247177018271770140217701402Nonsense_MutationATp.K1714X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
RAI1_17627341_17627473_17696246_17701827_17707069_17707163_TCGA-L5-A4OI-01Sample: TCGA-L5-A4OI-01
Cancer type: ESCA
ESID: exon_skip_149455
Skipped exon start: 17696247
Skipped exon end: 17701827
Mutation start: 17696716
Mutation end: 17696716
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.V151fs
RAI1_17627341_17627473_17696246_17701827_17707069_17707163_TCGA-L5-A4OI-01Sample: TCGA-L5-A4OI-01
Cancer type: ESCA
ESID: exon_skip_149455
Skipped exon start: 17696247
Skipped exon end: 17701827
Mutation start: 17696716
Mutation end: 17696716
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.P153fs
RAI1_17627341_17627473_17696246_17701827_17707069_17707163_TCGA-L5-A4OI-01Sample: TCGA-L5-A4OI-01
Cancer type: ESCA
ESID: exon_skip_149455
Skipped exon start: 17696247
Skipped exon end: 17701827
Mutation start: 17696716
Mutation end: 17696716
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.S154fs
RAI1_17627341_17627473_17696246_17701827_17707069_17707163_TCGA-L5-A4OI-01Sample: TCGA-L5-A4OI-01
Cancer type: ESCA
ESID: exon_skip_149455
Skipped exon start: 17696247
Skipped exon end: 17701827
Mutation start: 17699065
Mutation end: 17699065
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: T
AAchange: p.E935X
exon_skip_112640_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_112965_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_122690_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_129706_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_135696_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_135704_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_135820_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_147024_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_149455_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_307491_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_308211_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_308974_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_309972_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_311841_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_328488_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_349475_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_352933_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_374468_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_374469_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_386802_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_423582_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_428975_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_434375_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_439047_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_439048_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_441654_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_443160_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_443161_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_457940_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_461524_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_470470_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_470694_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_474097_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_477308_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_487634_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_495456_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_502537_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_506535_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_55351_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_77217_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_91288_ESCA_TCGA-L5-A4OI-01.png
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RAI1_17627341_17627473_17696246_17701827_17707069_17707163_TCGA-BR-7707-01Sample: TCGA-BR-7707-01
Cancer type: STAD
ESID: exon_skip_149455
Skipped exon start: 17696247
Skipped exon end: 17701827
Mutation start: 17698552
Mutation end: 17698552
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: T
AAchange: p.E764X
RAI1_17627341_17627473_17696246_17701827_17707069_17707163_TCGA-BR-7707-01Sample: TCGA-BR-7707-01
Cancer type: STAD
ESID: exon_skip_149455
Skipped exon start: 17696247
Skipped exon end: 17701827
Mutation start: 17698552
Mutation end: 17698552
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: T
AAchange: p.E764*
exon_skip_107867_STAD_TCGA-BR-7707-01.png
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exon_skip_133403_STAD_TCGA-BR-7707-01.png
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exon_skip_138373_STAD_TCGA-BR-7707-01.png
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exon_skip_143275_STAD_TCGA-BR-7707-01.png
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exon_skip_149455_STAD_TCGA-BR-7707-01.png
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exon_skip_333295_STAD_TCGA-BR-7707-01.png
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exon_skip_333833_STAD_TCGA-BR-7707-01.png
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exon_skip_358288_STAD_TCGA-BR-7707-01.png
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exon_skip_456871_STAD_TCGA-BR-7707-01.png
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exon_skip_461351_STAD_TCGA-BR-7707-01.png
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exon_skip_464232_STAD_TCGA-BR-7707-01.png
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exon_skip_48394_STAD_TCGA-BR-7707-01.png
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exon_skip_82386_STAD_TCGA-BR-7707-01.png
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exon_skip_82432_STAD_TCGA-BR-7707-01.png
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exon_skip_82433_STAD_TCGA-BR-7707-01.png
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exon_skip_86786_STAD_TCGA-BR-7707-01.png
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RAI1_17627341_17627473_17696246_17701827_17707069_17707163_TCGA-AZ-6598-01Sample: TCGA-AZ-6598-01
Cancer type: COAD
ESID: exon_skip_149455
Skipped exon start: 17696247
Skipped exon end: 17701827
Mutation start: 17698237
Mutation end: 17698237
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.W658fs
exon_skip_11218_COAD_TCGA-AZ-6598-01.png
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exon_skip_11256_COAD_TCGA-AZ-6598-01.png
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exon_skip_11259_COAD_TCGA-AZ-6598-01.png
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exon_skip_11263_COAD_TCGA-AZ-6598-01.png
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exon_skip_135111_COAD_TCGA-AZ-6598-01.png
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exon_skip_135112_COAD_TCGA-AZ-6598-01.png
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exon_skip_135114_COAD_TCGA-AZ-6598-01.png
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exon_skip_139080_COAD_TCGA-AZ-6598-01.png
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exon_skip_142268_COAD_TCGA-AZ-6598-01.png
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exon_skip_149455_COAD_TCGA-AZ-6598-01.png
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exon_skip_300996_COAD_TCGA-AZ-6598-01.png
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exon_skip_303809_COAD_TCGA-AZ-6598-01.png
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exon_skip_357723_COAD_TCGA-AZ-6598-01.png
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exon_skip_384067_COAD_TCGA-AZ-6598-01.png
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exon_skip_384069_COAD_TCGA-AZ-6598-01.png
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exon_skip_384070_COAD_TCGA-AZ-6598-01.png
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exon_skip_434039_COAD_TCGA-AZ-6598-01.png
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exon_skip_434040_COAD_TCGA-AZ-6598-01.png
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exon_skip_434375_COAD_TCGA-AZ-6598-01.png
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exon_skip_434763_COAD_TCGA-AZ-6598-01.png
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exon_skip_439048_COAD_TCGA-AZ-6598-01.png
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exon_skip_49506_COAD_TCGA-AZ-6598-01.png
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exon_skip_54471_COAD_TCGA-AZ-6598-01.png
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exon_skip_54472_COAD_TCGA-AZ-6598-01.png
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exon_skip_84515_COAD_TCGA-AZ-6598-01.png
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RAI1_17627341_17627473_17696246_17701827_17707069_17707163_TCGA-HU-A4GU-01Sample: TCGA-HU-A4GU-01
Cancer type: STAD
ESID: exon_skip_149455
Skipped exon start: 17696247
Skipped exon end: 17701827
Mutation start: 17696630
Mutation end: 17696630
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.A123fs
exon_skip_109771_STAD_TCGA-HU-A4GU-01.png
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exon_skip_133402_STAD_TCGA-HU-A4GU-01.png
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exon_skip_133403_STAD_TCGA-HU-A4GU-01.png
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exon_skip_146776_STAD_TCGA-HU-A4GU-01.png
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exon_skip_147024_STAD_TCGA-HU-A4GU-01.png
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exon_skip_149455_STAD_TCGA-HU-A4GU-01.png
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exon_skip_335090_STAD_TCGA-HU-A4GU-01.png
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exon_skip_382354_STAD_TCGA-HU-A4GU-01.png
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exon_skip_433982_STAD_TCGA-HU-A4GU-01.png
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exon_skip_433985_STAD_TCGA-HU-A4GU-01.png
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exon_skip_437417_STAD_TCGA-HU-A4GU-01.png
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exon_skip_437418_STAD_TCGA-HU-A4GU-01.png
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exon_skip_454428_STAD_TCGA-HU-A4GU-01.png
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exon_skip_454431_STAD_TCGA-HU-A4GU-01.png
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exon_skip_454433_STAD_TCGA-HU-A4GU-01.png
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exon_skip_465824_STAD_TCGA-HU-A4GU-01.png
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exon_skip_467518_STAD_TCGA-HU-A4GU-01.png
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exon_skip_480057_STAD_TCGA-HU-A4GU-01.png
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exon_skip_485377_STAD_TCGA-HU-A4GU-01.png
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exon_skip_500520_STAD_TCGA-HU-A4GU-01.png
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RAI1_17627341_17627473_17696246_17701827_17707069_17707163_TCGA-CD-A4MG-01Sample: TCGA-CD-A4MG-01
Cancer type: STAD
ESID: exon_skip_149455
Skipped exon start: 17696247
Skipped exon end: 17701827
Mutation start: 17698653
Mutation end: 17698653
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.D797fs
exon_skip_126223_STAD_TCGA-CD-A4MG-01.png
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exon_skip_140893_STAD_TCGA-CD-A4MG-01.png
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exon_skip_149455_STAD_TCGA-CD-A4MG-01.png
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exon_skip_27769_STAD_TCGA-CD-A4MG-01.png
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exon_skip_373886_STAD_TCGA-CD-A4MG-01.png
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exon_skip_4028_STAD_TCGA-CD-A4MG-01.png
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exon_skip_434040_STAD_TCGA-CD-A4MG-01.png
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exon_skip_452918_STAD_TCGA-CD-A4MG-01.png
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exon_skip_460764_STAD_TCGA-CD-A4MG-01.png
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exon_skip_460769_STAD_TCGA-CD-A4MG-01.png
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exon_skip_464126_STAD_TCGA-CD-A4MG-01.png
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exon_skip_467032_STAD_TCGA-CD-A4MG-01.png
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exon_skip_477308_STAD_TCGA-CD-A4MG-01.png
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exon_skip_493826_STAD_TCGA-CD-A4MG-01.png
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exon_skip_493827_STAD_TCGA-CD-A4MG-01.png
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exon_skip_499045_STAD_TCGA-CD-A4MG-01.png
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exon_skip_63587_STAD_TCGA-CD-A4MG-01.png
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exon_skip_74321_STAD_TCGA-CD-A4MG-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
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769671617696716Frame_Shift_DelC-p.P153fs
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769707517697075Frame_Shift_DelG-p.S271fs
SNUC2A_LARGE_INTESTINE17696247177018271769865317698653Frame_Shift_DelC-p.D797fs
SNUC2B_LARGE_INTESTINE17696247177018271769865317698653Frame_Shift_DelC-p.D797fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769935917699359Frame_Shift_DelC-p.P1034fs
NCIH1838_LUNG17696247177018271769950017699500Frame_Shift_DelC-p.P1081fs
HEC265_ENDOMETRIUM17696247177018271769671517696716Frame_Shift_Ins-Cp.P152fs
IM95_STOMACH17696247177018271769935817699359Frame_Shift_Ins-Cp.P1033fs
SNU407_LARGE_INTESTINE17696247177018271769935817699359Frame_Shift_Ins-Cp.P1033fs
PK1_PANCREAS17696247177018271769999217699993In_Frame_Ins-GCAp.1249_1250insS
CW2_LARGE_INTESTINE17696247177018271769640417696404Missense_MutationAGp.K48E
MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769656617696566Missense_MutationGAp.V102I
HEC265_ENDOMETRIUM17696247177018271769659317696593Missense_MutationCTp.R111C
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769667117696671Missense_MutationGAp.G137R
MZ7MEL_SKIN17696247177018271769667217696672Missense_MutationGAp.G137E
CHLA32_BONE17696247177018271769672917696729Missense_MutationAGp.Q156R
MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769675617696756Missense_MutationCTp.P165L
SNU407_LARGE_INTESTINE17696247177018271769676217696762Missense_MutationGAp.R167Q
MDAPCA2B_PROSTATE17696247177018271769679217696792Missense_MutationCTp.P177L
NCIH2141_LUNG17696247177018271769685817696858Missense_MutationCTp.S199F
A172_CENTRAL_NERVOUS_SYSTEM17696247177018271769692317696923Missense_MutationAGp.T221A
LCLC97TM1_LUNG17696247177018271769695917696959Missense_MutationGAp.A233T
NCIH1341_LUNG17696247177018271769698117696981Missense_MutationCTp.T240I
NCIH2810_PLEURA17696247177018271769700617697006Missense_MutationCAp.D248E
HEC151_ENDOMETRIUM17696247177018271769707317697073Missense_MutationTCp.S271P
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769717217697172Missense_MutationCTp.H304Y
SNU349_KIDNEY17696247177018271769720017697200Missense_MutationAGp.H313R
MDAPCA2B_PROSTATE17696247177018271769723317697233Missense_MutationCTp.P324L
22RV1_PROSTATE17696247177018271769723817697238Missense_MutationGAp.A326T
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769739517697395Missense_MutationGCp.S378T
HEC265_ENDOMETRIUM17696247177018271769739517697395Missense_MutationGCp.S378T
JMSU1_URINARY_TRACT17696247177018271769739517697395Missense_MutationGCp.S378T
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769739517697395Missense_MutationGCp.S378T
GT3TKB_STOMACH17696247177018271769739517697395Missense_MutationGCp.S378T
HN_UPPER_AERODIGESTIVE_TRACT17696247177018271769739517697395Missense_MutationGCp.S378T
KURAMOCHI_OVARY17696247177018271769739517697395Missense_MutationGCp.S378T
OVISE_OVARY17696247177018271769739517697395Missense_MutationGCp.S378T
SKN3_UPPER_AERODIGESTIVE_TRACT17696247177018271769739517697395Missense_MutationGCp.S378T
RERFLCAI_LUNG17696247177018271769739517697395Missense_MutationGCp.S378T
CHLA258_BONE17696247177018271769739817697398Missense_MutationCTp.T379I
HCC44_LUNG17696247177018271769749117697491Missense_MutationACp.Q410P
HEC59_ENDOMETRIUM17696247177018271769760217697602Missense_MutationATp.N447I
C2BBE1_LARGE_INTESTINE17696247177018271769776817697768Missense_MutationCGp.S502R
CACO2_LARGE_INTESTINE17696247177018271769776817697768Missense_MutationCGp.S502R
EFO27_OVARY17696247177018271769777317697773Missense_MutationCTp.T504M
SCC90_UPPER_AERODIGESTIVE_TRACT17696247177018271769779317697793Missense_MutationGAp.E511K
SNUC5_LARGE_INTESTINE17696247177018271769781217697812Missense_MutationAGp.Y517C
SNU1040_LARGE_INTESTINE17696247177018271769788117697881Missense_MutationCTp.A540V
HCC1833_LUNG17696247177018271769795917697959Missense_MutationCAp.T566N
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769804317698043Missense_MutationGAp.C594Y
SNU1040_LARGE_INTESTINE17696247177018271769804817698048Missense_MutationCTp.R596W
IGROV1_OVARY17696247177018271769804917698049Missense_MutationGTp.R596L
SNUC2A_LARGE_INTESTINE17696247177018271769806317698063Missense_MutationGAp.A601T
SW1116_LARGE_INTESTINE17696247177018271769824017698240Missense_MutationCTp.R660W
MKN74_STOMACH17696247177018271769824617698246Missense_MutationGTp.G662W
SNU1040_LARGE_INTESTINE17696247177018271769826417698264Missense_MutationCTp.P668S
HEC251_ENDOMETRIUM17696247177018271769829517698295Missense_MutationAGp.N678S
SNUC2A_LARGE_INTESTINE17696247177018271769836917698369Missense_MutationAGp.T703A
SNUC2B_LARGE_INTESTINE17696247177018271769836917698369Missense_MutationAGp.T703A
SKGIIIA_CERVIX17696247177018271769838217698382Missense_MutationCTp.S707F
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769845317698453Missense_MutationGAp.D731N
SNU1040_LARGE_INTESTINE17696247177018271769846217698462Missense_MutationGAp.A734T
IGR1_SKIN17696247177018271769860617698606Missense_MutationGAp.G782R
NCIH2110_LUNG17696247177018271769861517698615Missense_MutationCTp.H785Y
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769864917698649Missense_MutationAGp.E796G
SNU407_LARGE_INTESTINE17696247177018271769867617698676Missense_MutationCTp.S805L
PA1_OVARY17696247177018271769868417698684Missense_MutationGAp.G808R
SF172_CENTRAL_NERVOUS_SYSTEM17696247177018271769877717698777Missense_MutationGCp.E839Q
HEC59_ENDOMETRIUM17696247177018271769881317698813Missense_MutationGAp.G851R
KMH2_THYROID17696247177018271769890317698903Missense_MutationCTp.P881S
TASK1_CENTRAL_NERVOUS_SYSTEM17696247177018271769894317698943Missense_MutationATp.K894M
HCT15_LARGE_INTESTINE17696247177018271769911617699116Missense_MutationGTp.G952C
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769917017699170Missense_MutationGTp.A970S
NCIH2172_LUNG17696247177018271769920317699203Missense_MutationGTp.V981L
HEC265_ENDOMETRIUM17696247177018271769924217699242Missense_MutationCTp.R994W
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769925817699258Missense_MutationGAp.R999Q
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769925817699258Missense_MutationGAp.R999Q
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769929717699297Missense_MutationAGp.D1012G
451LU_SKIN17696247177018271769949417699494Missense_MutationCTp.P1078S
LXF289_LUNG17696247177018271769958217699582Missense_MutationCGp.S1107C
HEC265_ENDOMETRIUM17696247177018271769962117699621Missense_MutationAGp.D1120G
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271769965617699656Missense_MutationGTp.D1132Y
SAS_UPPER_AERODIGESTIVE_TRACT17696247177018271769967117699671Missense_MutationCGp.P1137A
LOVO_LARGE_INTESTINE17696247177018271769968617699686Missense_MutationCTp.R1142C
SNU1041_UPPER_AERODIGESTIVE_TRACT17696247177018271769977017699770Missense_MutationAGp.N1170D
SNU1272_KIDNEY17696247177018271769977617699776Missense_MutationCTp.R1172C
SNGM_ENDOMETRIUM17696247177018271769980117699801Missense_MutationAGp.N1180S
MFE296_ENDOMETRIUM17696247177018271769986017699860Missense_MutationAGp.S1200G
IGROV1_OVARY17696247177018271769992417699924Missense_MutationCTp.A1221V
UW228_CENTRAL_NERVOUS_SYSTEM17696247177018271769999317699993Missense_MutationGAp.R1244H
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271770012517700125Missense_MutationCTp.P1288L
EMCBAC2_LUNG17696247177018271770014217700142Missense_MutationCAp.P1294T
UMUC3_URINARY_TRACT17696247177018271770014817700148Missense_MutationGCp.E1296Q
HEC59_ENDOMETRIUM17696247177018271770018117700181Missense_MutationCTp.R1307W
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271770018117700181Missense_MutationCTp.R1307W
IGROV1_OVARY17696247177018271770023517700235Missense_MutationCTp.R1325W
CW2_LARGE_INTESTINE17696247177018271770026017700260Missense_MutationTCp.V1333A
MFE296_ENDOMETRIUM17696247177018271770035917700359Missense_MutationGAp.R1366H
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271770037017700370Missense_MutationGAp.G1370S
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271770045417700454Missense_MutationCAp.P1398T
KYM1_SOFT_TISSUE17696247177018271770057117700571Missense_MutationCGp.P1437A
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271770057117700571Missense_MutationCTp.P1437S
NCIH2087_LUNG17696247177018271770063817700638Missense_MutationCTp.S1459F
SNUC2B_LARGE_INTESTINE17696247177018271770064917700649Missense_MutationCAp.L1463M
NCIH196_LUNG17696247177018271770087117700871Missense_MutationCGp.R1537G
SNU719_STOMACH17696247177018271770108217701082Missense_MutationTCp.F1607S
CL40_LARGE_INTESTINE17696247177018271770108817701088Missense_MutationCTp.T1609I
SNGM_ENDOMETRIUM17696247177018271770112117701121Missense_MutationCTp.A1620V
HCC2998_LARGE_INTESTINE17696247177018271770113617701136Missense_MutationGAp.R1625K
TE14_OESOPHAGUS17696247177018271770114517701145Missense_MutationCTp.S1628F
SW837_LARGE_INTESTINE17696247177018271770118917701189Missense_MutationGCp.D1643H
ASH3_THYROID17696247177018271770131517701315Missense_MutationCTp.L1685F
HEC1B_ENDOMETRIUM17696247177018271770139417701394Missense_MutationGAp.C1711Y
UMUC6_URINARY_TRACT17696247177018271770142317701423Missense_MutationGCp.E1721Q
SNUC2B_LARGE_INTESTINE17696247177018271770157017701570Missense_MutationCTp.R1770C
EN_ENDOMETRIUM17696247177018271770157317701573Missense_MutationAGp.T1771A
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271770166517701665Missense_MutationGTp.K1801N
NCIH630_LARGE_INTESTINE17696247177018271770166717701667Missense_MutationGAp.G1802D
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE17696247177018271770176217701762Missense_MutationGAp.G1834S
MZ7MEL_SKIN17696247177018271770181617701816Missense_MutationGAp.A1852T
TE4_OESOPHAGUS17696247177018271770181617701816Missense_MutationGCp.A1852P
NCIH1755_LUNG17696247177018271769635217696352Nonsense_MutationCGp.Y30*
MM370_SKIN17696247177018271769656917696569Nonsense_MutationCTp.Q103*
SNU1040_LARGE_INTESTINE17696247177018271769674917696749Nonsense_MutationCTp.Q163*
OCUBM_BREAST17696247177018271769729617697296Nonsense_MutationCAp.S345*
HEC1A_ENDOMETRIUM17696247177018271770111417701114Nonsense_MutationGTp.G1618*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAI1

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 RAI1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAI1


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RelatedDrugs for RAI1

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 RAI1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
RAI1C0795864Smith-Magenis syndrome12CTD_human;ORPHANET
RAI1C0028754Obesity2CTD_human;HPO
RAI1C0003469Anxiety Disorders1CTD_human
RAI1C0018273Growth Disorders1CTD_human
RAI1C0025202melanoma1CTD_human
RAI1C0036341Schizophrenia1PSYGENET
RAI1C0376634Craniofacial Abnormalities1CTD_human
RAI1C0525041Neurobehavioral Manifestations1CTD_human
RAI1C0700201Dyssomnias1CTD_human
RAI1C1510586Autism Spectrum Disorders1CTD_human
RAI1C1970482Potocki-Lupski syndrome1CTD_human
RAI1C3714756Intellectual Disability1CTD_human;HPO
RAI1C3887612Psychomotor Agitation1CTD_human