ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RREB1

Gene summary

Gene information	Gene symbol	RREB1
	Gene ID	6239
	Gene name	ras responsive element binding protein 1
	Synonyms	FINB\|HNT\|LZ321\|RREB-1\|Zep-1
	Cytomap	6p24.3
	Type of gene	protein-coding
	Description	ras-responsive element-binding protein 1DNA-binding proteinfinger protein in nuclear bodieshindsight homolograf-responsive zinc finger protein LZ321zinc finger motif enhancer-binding protein 1
	Modification date	20180523
	UniProtAcc	Q92766
	Context	PubMed: RREB1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
RREB1	GO:0045944	positive regulation of transcription by RNA polymerase II	8816445

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Exon skipping events across known transcript of Ensembl for RREB1 from UCSC genome browser

Skipped 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.

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Gene isoform structures and expression levels for RREB1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for RREB1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_447772	6	7108263:7108293:7176887:7177006:7181356:7181391	7176887:7177006	ENSG00000124782.15	ENST00000379938.2,ENST00000491191.1,ENST00000349384.6,ENST00000467782.1,ENST00000334984.6
exon_skip_447776	6	7181356:7181479:7182102:7182315:7187666:7187756	7182102:7182315	ENSG00000124782.15	ENST00000379938.2,ENST00000471433.1,ENST00000483150.1,ENST00000379933.3,ENST00000349384.6,ENST00000334984.6
exon_skip_447778	6	7211805:7211942:7226699:7226889:7229229:7230666	7226699:7226889	ENSG00000124782.15	ENST00000379938.2,ENST00000483150.1,ENST00000379933.3,ENST00000349384.6,ENST00000334984.6
exon_skip_447781	6	7226699:7226889:7229229:7232140:7240670:7240835	7229229:7232140	ENSG00000124782.15	ENST00000379938.2,ENST00000334984.6
exon_skip_447782	6	7226699:7226889:7229229:7232140:7246656:7247454	7229229:7232140	ENSG00000124782.15	ENST00000379933.3,ENST00000349384.6
exon_skip_447790	6	7229229:7232140:7240670:7240835:7246656:7247454	7240670:7240835	ENSG00000124782.15	ENST00000379938.2
exon_skip_447792	6	7229229:7232140:7240670:7240835:7248743:7249457	7240670:7240835	ENSG00000124782.15	ENST00000334984.6
exon_skip_447793	6	7229229:7232140:7246656:7247454:7248743:7249457	7246656:7247454	ENSG00000124782.15	ENST00000379933.3,ENST00000349384.6
exon_skip_447799	6	7240670:7240835:7246656:7247454:7248743:7248878	7246656:7247454	ENSG00000124782.15	ENST00000379938.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RREB1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_447772	6	7108263:7108293:7176887:7177006:7181356:7181391	7176887:7177006	ENSG00000124782.15	ENST00000491191.1,ENST00000379938.2,ENST00000467782.1,ENST00000334984.6,ENST00000349384.6
exon_skip_447776	6	7181356:7181479:7182102:7182315:7187666:7187756	7182102:7182315	ENSG00000124782.15	ENST00000379933.3,ENST00000379938.2,ENST00000471433.1,ENST00000334984.6,ENST00000349384.6,ENST00000483150.1
exon_skip_447778	6	7211805:7211942:7226699:7226889:7229229:7230666	7226699:7226889	ENSG00000124782.15	ENST00000379933.3,ENST00000379938.2,ENST00000334984.6,ENST00000349384.6,ENST00000483150.1
exon_skip_447781	6	7226699:7226889:7229229:7232140:7240670:7240835	7229229:7232140	ENSG00000124782.15	ENST00000379938.2,ENST00000334984.6
exon_skip_447782	6	7226699:7226889:7229229:7232140:7246656:7247454	7229229:7232140	ENSG00000124782.15	ENST00000379933.3,ENST00000349384.6
exon_skip_447790	6	7229229:7232140:7240670:7240835:7246656:7247454	7240670:7240835	ENSG00000124782.15	ENST00000379938.2
exon_skip_447792	6	7229229:7232140:7240670:7240835:7248743:7249457	7240670:7240835	ENSG00000124782.15	ENST00000334984.6
exon_skip_447793	6	7229229:7232140:7246656:7247454:7248743:7249457	7246656:7247454	ENSG00000124782.15	ENST00000379933.3,ENST00000349384.6
exon_skip_447799	6	7240670:7240835:7246656:7247454:7248743:7248878	7246656:7247454	ENSG00000124782.15	ENST00000379938.2

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for RREB1

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000349384	7182102	7182315	5CDS-5UTR
ENST00000379933	7182102	7182315	5CDS-5UTR
ENST00000349384	7176887	7177006	5UTR-5UTR
ENST00000349384	7226699	7226889	Frame-shift
ENST00000379933	7226699	7226889	Frame-shift
ENST00000349384	7229229	7232140	Frame-shift
ENST00000379933	7229229	7232140	Frame-shift
ENST00000349384	7246656	7247454	In-frame
ENST00000379933	7246656	7247454	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000349384	7182102	7182315	5CDS-5UTR
ENST00000379933	7182102	7182315	5CDS-5UTR
ENST00000349384	7176887	7177006	5UTR-5UTR
ENST00000349384	7226699	7226889	Frame-shift
ENST00000379933	7226699	7226889	Frame-shift
ENST00000349384	7229229	7232140	Frame-shift
ENST00000379933	7229229	7232140	Frame-shift
ENST00000349384	7246656	7247454	In-frame
ENST00000379933	7246656	7247454	In-frame

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Infer the effects of exon skipping event on protein functional features for RREB1

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

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000349384	7457	1687	7246656	7247454	4123	4920	1269	1535
ENST00000379933	5843	1687	7246656	7247454	4265	5062	1269	1535

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000349384	7457	1687	7246656	7247454	4123	4920	1269	1535
ENST00000379933	5843	1687	7246656	7247454	4265	5062	1269	1535

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 feature

Description of feature

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 feature

Description of feature

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SNVs in the skipped exons for RREB1

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

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A0-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229664	7229664	Frame_Shift_Del	G	-	p.K444fs
BLCA	TCGA-GD-A3OQ-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229719	7229725	Frame_Shift_Del	TCGGCCA	-	p.S463fs
BLCA	TCGA-GD-A3OQ-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229719	7229725	Frame_Shift_Del	TCGGCCA	-	p.SAI463fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229773	7229773	Frame_Shift_Del	C	-	p.P482fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7230007	7230007	Frame_Shift_Del	A	-	p.N559fs
LIHC	TCGA-DD-A39Y-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7230261	7230261	Frame_Shift_Del	C	-	p.Y643fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7230286	7230286	Frame_Shift_Del	T	-	p.F652fs
PAAD	TCGA-IB-A5SP-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7230570	7230570	Frame_Shift_Del	C	-	p.D746fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7231410	7231410	Frame_Shift_Del	C	-	p.S1026fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7231656	7231656	Frame_Shift_Del	C	-	p.V1108fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7231656	7231656	Frame_Shift_Del	C	-	p.V1108fs
LIHC	TCGA-DD-A3A0-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7231981	7231981	Frame_Shift_Del	G	-	p.G1217fs
STAD	TCGA-CG-5728-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7232077	7232077	Frame_Shift_Del	C	-	p.C1248fs
LIHC	TCGA-DD-A3A0-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7232086	7232086	Frame_Shift_Del	C	-	p.P1252fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7232097	7232097	Frame_Shift_Del	C	-	p.F1255fs
LIHC	TCGA-DD-A3A0-01	exon_skip_447790 exon_skip_447792	7240671	7240835	7240709	7240709	Frame_Shift_Del	T	-	p.F1283fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447790 exon_skip_447792	7240671	7240835	7240709	7240709	Frame_Shift_Del	T	-	p.F1283fs
LIHC	TCGA-DD-A39Y-01	exon_skip_447790 exon_skip_447792	7240671	7240835	7240784	7240784	Frame_Shift_Del	G	-	p.G1308fs
STAD	TCGA-BR-4292-01	exon_skip_447799 exon_skip_447793	7246657	7247454	7247181	7247181	Frame_Shift_Del	C	-	p.P1445fs
UCS	TCGA-N7-A4Y0-01	exon_skip_447799 exon_skip_447793	7246657	7247454	7247181	7247181	Frame_Shift_Del	C	-	p.K1499fs
UCS	TCGA-N7-A4Y0-01	exon_skip_447799 exon_skip_447793	7246657	7247454	7247181	7247181	Frame_Shift_Del	C	-	p.P1501fs
KIRC	TCGA-CJ-5681-01	exon_skip_447776	7182103	7182315	7182250	7182251	Frame_Shift_Ins	-	G	p.S36fs
PAAD	TCGA-XN-A8T5-01		7226700	7226889	7226828	7226829	Frame_Shift_Ins	-	TG	p.G279fs
PAAD	TCGA-IB-7647-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229287	7229288	Frame_Shift_Ins	-	ACAC	p.D319fs
PAAD	TCGA-IB-7647-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229287	7229288	Frame_Shift_Ins	-	ACAC	p.H319fs
PAAD	TCGA-FB-AAPS-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229269	7229269	Nonsense_Mutation	C	T	p.Q313*
PAAD	TCGA-FB-AAPS-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229269	7229269	Nonsense_Mutation	C	T	p.Q313X
PAAD	TCGA-IB-7888-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229365	7229365	Nonsense_Mutation	C	T	p.Q345*
PAAD	TCGA-IB-7888-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229365	7229365	Nonsense_Mutation	C	T	p.Q345X
PAAD	TCGA-IB-7888-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229368	7229368	Nonsense_Mutation	G	T	p.E346*
PAAD	TCGA-IB-7888-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229368	7229368	Nonsense_Mutation	G	T	p.E346X
BLCA	TCGA-G2-A2EO-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229506	7229506	Nonsense_Mutation	C	T	p.Q392*
BLCA	TCGA-S5-A6DX-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229506	7229506	Nonsense_Mutation	C	T	p.Q392*
SKCM	TCGA-ER-A194-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229506	7229506	Nonsense_Mutation	C	T	p.Q392*
SKCM	TCGA-ER-A194-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229506	7229506	Nonsense_Mutation	C	T	p.Q392X
BLCA	TCGA-DK-A6B6-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229527	7229527	Nonsense_Mutation	C	T	p.Q399*
SKCM	TCGA-IH-A3EA-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229527	7229527	Nonsense_Mutation	C	T	p.Q399*
SKCM	TCGA-IH-A3EA-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229527	7229527	Nonsense_Mutation	C	T	p.Q399X
BLCA	TCGA-CF-A9FF-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229536	7229536	Nonsense_Mutation	C	T	p.Q402*
BLCA	TCGA-KQ-A41R-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7229536	7229536	Nonsense_Mutation	C	T	p.Q402*
LUAD	TCGA-55-5899-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7230139	7230139	Nonsense_Mutation	G	T	p.E603*
ESCA	TCGA-2H-A9GM-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7230280	7230280	Nonsense_Mutation	C	T	p.Q650*
ESCA	TCGA-2H-A9GM-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7230280	7230280	Nonsense_Mutation	C	T	p.Q650X
LUAD	TCGA-17-Z031-01	exon_skip_447782 exon_skip_447781	7229230	7232140	7231129	7231129	Nonsense_Mutation	G	T	p.E933*
PRAD	TCGA-XA-A8JR-01	exon_skip_447790 exon_skip_447792	7240671	7240835	7240690	7240690	Nonsense_Mutation	T	A	p.C1276*

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
HEC108_ENDOMETRIUM	7229230	7232140	7229805	7229805	Frame_Shift_Del	G	-	p.K491fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7229871	7229872	Frame_Shift_Del	CA	-	p.T514fs
JHUEM1_ENDOMETRIUM	7229230	7232140	7231498	7231498	Frame_Shift_Del	C	-	p.P1057fs
DV90_LUNG	7229230	7232140	7231565	7231565	Frame_Shift_Del	C	-	p.A1078fs
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7232130	7232131	Frame_Shift_Del	CA	-	p.T1267fs
NCIH358_LUNG	7246657	7247454	7246803	7246813	Frame_Shift_Del	GCCTCGCCGGT	-	p.ASPV1319fs
DV90_LUNG	7246657	7247454	7247181	7247181	Frame_Shift_Del	C	-	p.P1446fs
JHUEM2_ENDOMETRIUM	7246657	7247454	7247181	7247181	Frame_Shift_Del	C	-	p.P1446fs
DANG_PANCREAS	7229230	7232140	7231108	7231109	Frame_Shift_Ins	-	TCCCCTAT	p.-928fs
CW2_LARGE_INTESTINE	7229230	7232140	7231497	7231498	Frame_Shift_Ins	-	C	p.P1056fs
SNU324_PANCREAS	7229230	7232140	7231989	7231991	In_Frame_Del	TGA	-	p.D1220del
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7182103	7182315	7182163	7182163	Missense_Mutation	G	A	p.A7T
BICR18_UPPER_AERODIGESTIVE_TRACT	7182103	7182315	7182274	7182274	Missense_Mutation	T	A	p.S44T
PACADD161_PANCREAS	7226700	7226889	7226876	7226876	Missense_Mutation	C	T	p.P295L
HCT15_LARGE_INTESTINE	7229230	7232140	7229401	7229401	Missense_Mutation	G	A	p.A357T
EW18_BONE	7229230	7232140	7229545	7229545	Missense_Mutation	G	A	p.G405S
COV434_OVARY	7229230	7232140	7229617	7229617	Missense_Mutation	G	A	p.A429T
MDAPCA2B_PROSTATE	7229230	7232140	7229686	7229686	Missense_Mutation	A	G	p.S452G
SNU620_STOMACH	7229230	7232140	7229720	7229720	Missense_Mutation	C	T	p.S463L
NUGC3_STOMACH	7229230	7232140	7229776	7229776	Missense_Mutation	C	A	p.P482T
OVCAR8_OVARY	7229230	7232140	7229792	7229792	Missense_Mutation	C	T	p.P487L
HEC59_ENDOMETRIUM	7229230	7232140	7229876	7229876	Missense_Mutation	C	A	p.P515Q
NCIH2066_LUNG	7229230	7232140	7229879	7229879	Missense_Mutation	G	A	p.R516Q
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7229906	7229906	Missense_Mutation	C	T	p.P525L
OVK18_OVARY	7229230	7232140	7229917	7229917	Missense_Mutation	A	G	p.N529D
PCI4B_UPPER_AERODIGESTIVE_TRACT	7229230	7232140	7229951	7229951	Missense_Mutation	C	T	p.P540L
JHU029_UPPER_AERODIGESTIVE_TRACT	7229230	7232140	7229980	7229980	Missense_Mutation	C	T	p.L550F
NCIH82_LUNG	7229230	7232140	7230024	7230024	Missense_Mutation	G	T	p.Q564H
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7230111	7230111	Missense_Mutation	G	T	p.K593N
RERFLCAD1_LUNG	7229230	7232140	7230141	7230141	Missense_Mutation	G	C	p.E603D
CW2_LARGE_INTESTINE	7229230	7232140	7230143	7230143	Missense_Mutation	C	T	p.A604V
HCC202_BREAST	7229230	7232140	7230163	7230163	Missense_Mutation	G	C	p.E611Q
NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7230191	7230191	Missense_Mutation	A	T	p.E620V
DV90_LUNG	7229230	7232140	7230217	7230217	Missense_Mutation	G	A	p.A629T
HEC108_ENDOMETRIUM	7229230	7232140	7230247	7230247	Missense_Mutation	C	T	p.R639C
SNUC4_LARGE_INTESTINE	7229230	7232140	7230320	7230320	Missense_Mutation	G	A	p.R663H
JHH7_LIVER	7229230	7232140	7230328	7230328	Missense_Mutation	C	A	p.L666M
CL34_LARGE_INTESTINE	7229230	7232140	7230370	7230370	Missense_Mutation	G	A	p.A680T
MZ7MEL_SKIN	7229230	7232140	7230374	7230374	Missense_Mutation	C	T	p.A681V
MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7230407	7230407	Missense_Mutation	C	T	p.T692M
SNUC2A_LARGE_INTESTINE	7229230	7232140	7230580	7230580	Missense_Mutation	G	A	p.A750T
SNUC2B_LARGE_INTESTINE	7229230	7232140	7230580	7230580	Missense_Mutation	G	A	p.A750T
PANC0813_PANCREAS	7229230	7232140	7230583	7230583	Missense_Mutation	C	T	p.P751S
NCIH630_LARGE_INTESTINE	7229230	7232140	7230607	7230607	Missense_Mutation	G	A	p.G759S
TMK1_STOMACH	7229230	7232140	7230628	7230628	Missense_Mutation	C	A	p.R766S
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7230649	7230649	Missense_Mutation	C	T	p.R773C
NBTU110_AUTONOMIC_GANGLIA	7229230	7232140	7230677	7230677	Missense_Mutation	G	A	p.G782E
HUH1_LIVER	7229230	7232140	7230720	7230720	Missense_Mutation	C	G	p.S796R
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7230721	7230721	Missense_Mutation	G	A	p.A797T
KU1919_URINARY_TRACT	7229230	7232140	7230733	7230733	Missense_Mutation	G	A	p.A801T
MON_SOFT_TISSUE	7229230	7232140	7230892	7230892	Missense_Mutation	G	T	p.G854C
NCIH1563_LUNG	7229230	7232140	7230895	7230895	Missense_Mutation	G	T	p.D855Y
CADOES1_BONE	7229230	7232140	7230929	7230929	Missense_Mutation	A	T	p.Q866L
FTC133_THYROID	7229230	7232140	7230997	7230997	Missense_Mutation	G	A	p.A889T
WM793_SKIN	7229230	7232140	7231004	7231004	Missense_Mutation	G	A	p.S891N
SW403_LARGE_INTESTINE	7229230	7232140	7231010	7231010	Missense_Mutation	C	T	p.A893V
CHLA9_BONE	7229230	7232140	7231033	7231033	Missense_Mutation	G	A	p.D901N
HEC108_ENDOMETRIUM	7229230	7232140	7231121	7231121	Missense_Mutation	G	A	p.C930Y
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7231138	7231138	Missense_Mutation	G	A	p.D936N
JHUEM7_ENDOMETRIUM	7229230	7232140	7231169	7231169	Missense_Mutation	G	C	p.G946A
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7231169	7231169	Missense_Mutation	G	C	p.G946A
RCC10RGB_KIDNEY	7229230	7232140	7231169	7231169	Missense_Mutation	G	C	p.G946A
RERFLCAD2_LUNG	7229230	7232140	7231169	7231169	Missense_Mutation	G	C	p.G946A
ONS76_CENTRAL_NERVOUS_SYSTEM	7229230	7232140	7231214	7231214	Missense_Mutation	A	G	p.E961G
MCC13_SKIN	7229230	7232140	7231243	7231243	Missense_Mutation	C	T	p.P971S
MDAMB468_BREAST	7229230	7232140	7231300	7231300	Missense_Mutation	G	C	p.E990Q
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7231420	7231420	Missense_Mutation	G	A	p.V1030M
SBC1_LUNG	7229230	7232140	7231459	7231459	Missense_Mutation	C	T	p.R1043C
HEC1A_ENDOMETRIUM	7229230	7232140	7231570	7231570	Missense_Mutation	A	G	p.T1080A
HEC1_ENDOMETRIUM	7229230	7232140	7231570	7231570	Missense_Mutation	A	G	p.T1080A
HEC1B_ENDOMETRIUM	7229230	7232140	7231570	7231570	Missense_Mutation	A	G	p.T1080A
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7231645	7231645	Missense_Mutation	G	A	p.G1105R
MCC26_SKIN	7229230	7232140	7231657	7231657	Missense_Mutation	C	T	p.P1109S
MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7231675	7231675	Missense_Mutation	G	A	p.A1115T
SNU1040_LARGE_INTESTINE	7229230	7232140	7231723	7231723	Missense_Mutation	G	A	p.A1131T
NCIH2171_LUNG	7229230	7232140	7231730	7231730	Missense_Mutation	C	T	p.A1133V
NCIBL2171_MATCHED_NORMAL_TISSUE	7229230	7232140	7231730	7231730	Missense_Mutation	C	T	p.A1133V
SNU175_LARGE_INTESTINE	7229230	7232140	7231765	7231765	Missense_Mutation	G	A	p.G1145S
NCIH630_LARGE_INTESTINE	7229230	7232140	7231856	7231856	Missense_Mutation	G	A	p.S1175N
SNU1040_LARGE_INTESTINE	7229230	7232140	7231931	7231931	Missense_Mutation	C	T	p.A1200V
BT483_BREAST	7229230	7232140	7231958	7231958	Missense_Mutation	C	A	p.A1209D
OC316_OVARY	7229230	7232140	7232089	7232089	Missense_Mutation	C	T	p.R1253W
OC314_OVARY	7229230	7232140	7232089	7232089	Missense_Mutation	C	T	p.R1253W
MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7246657	7247454	7246659	7246659	Missense_Mutation	A	C	p.S1271R
NCIH2286_LUNG	7246657	7247454	7246668	7246668	Missense_Mutation	G	T	p.D1274Y
IGROV1_OVARY	7246657	7247454	7246684	7246684	Missense_Mutation	C	T	p.A1279V
LCLC97TM1_LUNG	7246657	7247454	7246804	7246804	Missense_Mutation	C	A	p.A1319D
PACADD137_PANCREAS	7246657	7247454	7246815	7246815	Missense_Mutation	C	T	p.H1323Y
SCABER_URINARY_TRACT	7246657	7247454	7246824	7246824	Missense_Mutation	G	C	p.E1326Q
SHP77_LUNG	7246657	7247454	7246836	7246836	Missense_Mutation	G	A	p.G1330R
LNCAPCLONEFGC_PROSTATE	7246657	7247454	7246856	7246856	Missense_Mutation	G	T	p.E1336D
ESS1_ENDOMETRIUM	7246657	7247454	7246899	7246900	Missense_Mutation	GC	TT	p.A1351L
ESS1_ENDOMETRIUM	7246657	7247454	7246899	7246899	Missense_Mutation	G	T	p.A1351S
ESS1_ENDOMETRIUM	7246657	7247454	7246900	7246900	Missense_Mutation	C	T	p.A1351V
TM31_CENTRAL_NERVOUS_SYSTEM	7246657	7247454	7246972	7246972	Missense_Mutation	C	T	p.A1375V
NCIH1869_LUNG	7246657	7247454	7247004	7247004	Missense_Mutation	G	A	p.A1386T
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7246657	7247454	7247064	7247064	Missense_Mutation	G	T	p.G1406C
MELJUSO_SKIN	7246657	7247454	7247095	7247095	Missense_Mutation	G	A	p.G1416D
TM31_CENTRAL_NERVOUS_SYSTEM	7246657	7247454	7247151	7247151	Missense_Mutation	C	T	p.P1435S
CW2_LARGE_INTESTINE	7246657	7247454	7247215	7247215	Missense_Mutation	C	T	p.A1456V
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7246657	7247454	7247229	7247229	Missense_Mutation	G	A	p.E1461K
HEC59_ENDOMETRIUM	7246657	7247454	7247251	7247251	Missense_Mutation	C	T	p.A1468V
DV90_LUNG	7246657	7247454	7247260	7247260	Missense_Mutation	C	T	p.T1471M
HS739T_FIBROBLAST	7246657	7247454	7247268	7247268	Missense_Mutation	C	T	p.P1474S
SLR24_KIDNEY	7246657	7247454	7247311	7247311	Missense_Mutation	A	T	p.K1488M
MELHO_SKIN	7246657	7247454	7247380	7247380	Missense_Mutation	A	C	p.K1511T
HEC1_ENDOMETRIUM	7246657	7247454	7247433	7247433	Missense_Mutation	C	T	p.R1529W
NCIH2227_LUNG	7246657	7247454	7247434	7247434	Missense_Mutation	G	T	p.R1529L
PACADD137_PANCREAS	7229230	7232140	7229650	7229650	Nonsense_Mutation	C	T	p.Q440*
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7230190	7230190	Nonsense_Mutation	G	T	p.E620*
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7229230	7232140	7230922	7230922	Nonsense_Mutation	G	T	p.E864*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RREB1

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RREB1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RREB1

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RelatedDrugs for RREB1

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for RREB1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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