ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GREB1L

Gene summary

Gene information	Gene symbol	GREB1L
	Gene ID	80000
	Gene name	GREB1 like retinoic acid receptor coactivator
	Synonyms	C18orf6\|KIAA1772\|RHDA3
	Cytomap	18q11.1-q11.2
	Type of gene	protein-coding
	Description	GREB1-like proteingrowth regulation by estrogen in breast cancer 1 likegrowth regulation by estrogen in breast cancer 1-like proteingrowth regulation by estrogen in breast cancer-like
	Modification date	20180519
	UniProtAcc	Q9C091
	Context	PubMed: GREB1L [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
GREB1L	GO:0001822	kidney development	29100091

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Exon skipping events across known transcript of Ensembl for GREB1L 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 GREB1L

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 GREB1L

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_295932	18	18822318:18822354:18945987:18946097:18963470:18963636	18945987:18946097	ENSG00000141449.10	ENST00000424526.1,ENST00000269218.6,ENST00000400483.4,ENST00000431264.1
exon_skip_295933	18	18964166:18964364:18975345:18975522:18981110:18981287	18975345:18975522	ENSG00000141449.10	ENST00000424526.1,ENST00000269218.6,ENST00000584446.1,ENST00000580732.2,ENST00000578368.1,ENST00000400483.4,ENST00000431264.1
exon_skip_295934	18	18975345:18975522:18981110:18981287:18983832:18983955	18981110:18981287	ENSG00000141449.10	ENST00000424526.1,ENST00000269218.6,ENST00000584446.1,ENST00000580732.2,ENST00000578368.1,ENST00000400483.4,ENST00000431264.1
exon_skip_295935	18	18983832:18983955:19014907:19015036:19019481:19019598	19014907:19015036	ENSG00000141449.10	ENST00000579454.1
exon_skip_295936	18	19024184:19024370:19029470:19029797:19030983:19031028	19029470:19029797	ENSG00000141449.10	ENST00000424526.1,ENST00000584446.1,ENST00000580732.2,ENST00000578368.1,ENST00000400483.4,ENST00000431264.1
exon_skip_295938	18	19024184:19024370:19030983:19031112:19032043:19032178	19030983:19031112	ENSG00000141449.10	ENST00000269218.6
exon_skip_295939	18	19034394:19034524:19052991:19053172:19057124:19057317	19052991:19053172	ENSG00000141449.10	ENST00000424526.1,ENST00000269218.6,ENST00000580732.2
exon_skip_295940	18	19057124:19057317:19065580:19065714:19069972:19070192	19065580:19065714	ENSG00000141449.10	ENST00000424526.1,ENST00000269218.6,ENST00000578955.1,ENST00000580732.2,ENST00000400483.4
exon_skip_295942	18	19096573:19096715:19097994:19098195:19100648:19100700	19097994:19098195	ENSG00000141449.10	ENST00000424526.1,ENST00000269218.6,ENST00000580732.2,ENST00000400483.4
exon_skip_295943	18	19096573:19096715:19098133:19098195:19100648:19100700	19098133:19098195	ENSG00000141449.10	ENST00000580384.1
exon_skip_295944	18	19098133:19098195:19100648:19100784:19102618:19102782	19100648:19100784	ENSG00000141449.10	ENST00000424526.1,ENST00000269218.6,ENST00000580732.2,ENST00000400483.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GREB1L

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_295932	18	18822318:18822354:18945987:18946097:18963470:18963636	18945987:18946097	ENSG00000141449.10	ENST00000424526.1,ENST00000400483.4,ENST00000431264.1,ENST00000269218.6
exon_skip_295933	18	18964166:18964364:18975345:18975522:18981110:18981287	18975345:18975522	ENSG00000141449.10	ENST00000584446.1,ENST00000424526.1,ENST00000400483.4,ENST00000431264.1,ENST00000269218.6,ENST00000580732.2,ENST00000578368.1
exon_skip_295935	18	18983832:18983955:19014907:19015036:19019481:19019598	19014907:19015036	ENSG00000141449.10	ENST00000579454.1
exon_skip_295936	18	19024184:19024370:19029470:19029797:19030983:19031028	19029470:19029797	ENSG00000141449.10	ENST00000584446.1,ENST00000424526.1,ENST00000400483.4,ENST00000431264.1,ENST00000580732.2,ENST00000578368.1
exon_skip_295938	18	19024184:19024370:19030983:19031112:19032043:19032178	19030983:19031112	ENSG00000141449.10	ENST00000269218.6
exon_skip_295939	18	19034394:19034524:19052991:19053172:19057124:19057317	19052991:19053172	ENSG00000141449.10	ENST00000424526.1,ENST00000269218.6,ENST00000580732.2
exon_skip_295940	18	19057124:19057317:19065580:19065714:19069972:19070192	19065580:19065714	ENSG00000141449.10	ENST00000424526.1,ENST00000400483.4,ENST00000269218.6,ENST00000580732.2,ENST00000578955.1
exon_skip_295942	18	19096573:19096715:19097994:19098195:19100648:19100700	19097994:19098195	ENSG00000141449.10	ENST00000424526.1,ENST00000400483.4,ENST00000269218.6,ENST00000580732.2
exon_skip_295943	18	19096573:19096715:19098133:19098195:19100648:19100700	19098133:19098195	ENSG00000141449.10	ENST00000580384.1
exon_skip_295944	18	19098133:19098195:19100648:19100784:19102618:19102782	19100648:19100784	ENSG00000141449.10	ENST00000424526.1,ENST00000400483.4,ENST00000269218.6,ENST00000580732.2

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 GREB1L

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
ENST00000424526	18945987	18946097	5UTR-5UTR
ENST00000424526	19052991	19053172	Frame-shift
ENST00000580732	19052991	19053172	Frame-shift
ENST00000424526	19065580	19065714	Frame-shift
ENST00000580732	19065580	19065714	Frame-shift
ENST00000424526	19100648	19100784	Frame-shift
ENST00000580732	19100648	19100784	Frame-shift
ENST00000424526	18975345	18975522	In-frame
ENST00000580732	18975345	18975522	In-frame
ENST00000424526	18981110	18981287	In-frame
ENST00000580732	18981110	18981287	In-frame
ENST00000424526	19029470	19029797	In-frame
ENST00000580732	19029470	19029797	In-frame
ENST00000424526	19097994	19098195	In-frame
ENST00000580732	19097994	19098195	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
ENST00000424526	18945987	18946097	5UTR-5UTR
ENST00000424526	19052991	19053172	Frame-shift
ENST00000580732	19052991	19053172	Frame-shift
ENST00000424526	19065580	19065714	Frame-shift
ENST00000580732	19065580	19065714	Frame-shift
ENST00000424526	19100648	19100784	Frame-shift
ENST00000580732	19100648	19100784	Frame-shift
ENST00000424526	18975345	18975522	In-frame
ENST00000580732	18975345	18975522	In-frame
ENST00000424526	19029470	19029797	In-frame
ENST00000580732	19029470	19029797	In-frame
ENST00000424526	19097994	19098195	In-frame
ENST00000580732	19097994	19098195	In-frame

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Infer the effects of exon skipping event on protein functional features for GREB1L

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
ENST00000424526	6069	1923	18975345	18975522	627	803	118	177
ENST00000580732	8766	1923	18975345	18975522	737	913	118	177
ENST00000424526	6069	1923	18981110	18981287	804	980	177	236
ENST00000580732	8766	1923	18981110	18981287	914	1090	177	236
ENST00000424526	6069	1923	19029470	19029797	1665	1991	464	573
ENST00000580732	8766	1923	19029470	19029797	1775	2101	464	573
ENST00000424526	6069	1923	19097994	19098195	5543	5743	1757	1824
ENST00000580732	8766	1923	19097994	19098195	5653	5853	1757	1824

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
ENST00000424526	6069	1923	18975345	18975522	627	803	118	177
ENST00000580732	8766	1923	18975345	18975522	737	913	118	177
ENST00000424526	6069	1923	19029470	19029797	1665	1991	464	573
ENST00000580732	8766	1923	19029470	19029797	1775	2101	464	573
ENST00000424526	6069	1923	19097994	19098195	5543	5743	1757	1824
ENST00000580732	8766	1923	19097994	19098195	5653	5853	1757	1824

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
Q9C091	118	177	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	118	177	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	118	177	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	118	177	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	118	177	128	128	Natural variant	ID=VAR_080092;Note=In RHDA3. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	118	177	128	128	Natural variant	ID=VAR_080092;Note=In RHDA3. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	177	236	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	177	236	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	177	236	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	177	236	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	177	236	192	192	Natural variant	ID=VAR_080093;Note=In RHDA3. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	177	236	192	192	Natural variant	ID=VAR_080093;Note=In RHDA3. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	464	573	466	574	Alternative sequence	ID=VSP_031762;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C091	464	573	466	574	Alternative sequence	ID=VSP_031762;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C091	464	573	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	464	573	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	464	573	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	464	573	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	464	573	497	497	Natural variant	ID=VAR_080097;Note=In RHDA3. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	464	573	497	497	Natural variant	ID=VAR_080097;Note=In RHDA3. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	748	1923	Alternative sequence	ID=VSP_031765;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9C091	1757	1824	748	1923	Alternative sequence	ID=VSP_031765;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9C091	1757	1824	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	1757	1824	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	1757	1824	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	594	1923	Natural variant	ID=VAR_080098;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	594	1923	Natural variant	ID=VAR_080098;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	976	1923	Natural variant	ID=VAR_080105;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	976	1923	Natural variant	ID=VAR_080105;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	1099	1923	Natural variant	ID=VAR_080107;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	1099	1923	Natural variant	ID=VAR_080107;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	1560	1923	Natural variant	ID=VAR_080113;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	1560	1923	Natural variant	ID=VAR_080113;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	1775	1775	Natural variant	ID=VAR_080120;Note=In RHDA3. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	1775	1775	Natural variant	ID=VAR_080120;Note=In RHDA3. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	1793	1793	Natural variant	ID=VAR_080121;Note=In RHDA3. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28739660;Dbxref=PMID:28739660
Q9C091	1757	1824	1793	1793	Natural variant	ID=VAR_080121;Note=In RHDA3. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28739660;Dbxref=PMID:28739660

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
Q9C091	118	177	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	118	177	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	118	177	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	118	177	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	118	177	128	128	Natural variant	ID=VAR_080092;Note=In RHDA3. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	118	177	128	128	Natural variant	ID=VAR_080092;Note=In RHDA3. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	464	573	466	574	Alternative sequence	ID=VSP_031762;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C091	464	573	466	574	Alternative sequence	ID=VSP_031762;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C091	464	573	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	464	573	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	464	573	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	464	573	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	464	573	497	497	Natural variant	ID=VAR_080097;Note=In RHDA3. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	464	573	497	497	Natural variant	ID=VAR_080097;Note=In RHDA3. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	748	1923	Alternative sequence	ID=VSP_031765;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9C091	1757	1824	748	1923	Alternative sequence	ID=VSP_031765;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9C091	1757	1824	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	1757	1824	1	1923	Chain	ID=PRO_0000320946;Note=GREB1-like protein
Q9C091	1757	1824	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	13	1923	Natural variant	ID=VAR_080091;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	594	1923	Natural variant	ID=VAR_080098;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	594	1923	Natural variant	ID=VAR_080098;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	976	1923	Natural variant	ID=VAR_080105;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	976	1923	Natural variant	ID=VAR_080105;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	1099	1923	Natural variant	ID=VAR_080107;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	1099	1923	Natural variant	ID=VAR_080107;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	1560	1923	Natural variant	ID=VAR_080113;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	1560	1923	Natural variant	ID=VAR_080113;Note=In RHDA3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100090;Dbxref=PMID:29100090
Q9C091	1757	1824	1775	1775	Natural variant	ID=VAR_080120;Note=In RHDA3. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	1775	1775	Natural variant	ID=VAR_080120;Note=In RHDA3. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100091;Dbxref=PMID:29100091
Q9C091	1757	1824	1793	1793	Natural variant	ID=VAR_080121;Note=In RHDA3. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28739660;Dbxref=PMID:28739660
Q9C091	1757	1824	1793	1793	Natural variant	ID=VAR_080121;Note=In RHDA3. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28739660;Dbxref=PMID:28739660

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SNVs in the skipped exons for GREB1L

- 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-G3-A3CJ-01	exon_skip_295933	18975346	18975522	18975428	18975428	Frame_Shift_Del	G	-	p.V146fs
LIHC	TCGA-DD-A1EG-01	exon_skip_295934	18981111	18981287	18981113	18981113	Frame_Shift_Del	T	-	p.F179fs
LIHC	TCGA-DD-A3A0-01	exon_skip_295936	19029471	19029797	19029598	19029598	Frame_Shift_Del	C	-	p.L507fs
LIHC	TCGA-DD-A3A0-01	exon_skip_295940	19065581	19065714	19065589	19065589	Frame_Shift_Del	G	-	p.V855fs
LIHC	TCGA-DD-A1EG-01	exon_skip_295940	19065581	19065714	19065645	19065645	Frame_Shift_Del	G	-	p.W874fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_295940	19065581	19065714	19065658	19065658	Frame_Shift_Del	C	-	p.S878fs
LIHC	TCGA-DD-A3A0-01	exon_skip_295944	19100649	19100784	19100676	19100676	Frame_Shift_Del	C	-	p.P1834fs
LIHC	TCGA-DD-A1EG-01	exon_skip_295944	19100649	19100784	19100709	19100709	Frame_Shift_Del	T	-	p.F1846fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_295944	19100649	19100784	19100709	19100709	Frame_Shift_Del	T	-	p.F1846fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_295944	19100649	19100784	19100709	19100709	Frame_Shift_Del	T	-	p.V1844fs
LIHC	TCGA-BC-A112-01	exon_skip_295933	18975346	18975522	18975505	18975506	Frame_Shift_Ins	-	A	p.E172fs
CHOL	TCGA-W5-AA2G-01	exon_skip_295934	18981111	18981287	18981119	18981119	Nonsense_Mutation	G	T	p.G181X
THYM	TCGA-X7-A8DF-01	exon_skip_295934	18981111	18981287	18981137	18981137	Nonsense_Mutation	G	T	p.G187X
KIRP	TCGA-5P-A9JU-01	exon_skip_295938	19030984	19031112	19031043	19031043	Nonsense_Mutation	G	T	p.E594X
ACC	TCGA-OR-A5J8-01	exon_skip_295939	19052992	19053172	19053018	19053018	Nonsense_Mutation	G	T	p.E737*
ACC	TCGA-OR-A5J8-01	exon_skip_295939	19052992	19053172	19053018	19053018	Nonsense_Mutation	G	T	p.E737X
COAD	TCGA-AD-6964-01	exon_skip_295940	19065581	19065714	19065632	19065632	Nonsense_Mutation	A	T	p.K870X

- 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	19065581	19065714	19065687	19065687	Frame_Shift_Del	A	-	p.E888fs
LS411N_LARGE_INTESTINE	18975346	18975522	18975505	18975506	Frame_Shift_Ins	-	A	p.GK172fs
EN_ENDOMETRIUM	18975346	18975522	18975505	18975506	Frame_Shift_Ins	-	A	p.GK172fs
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	18975346	18975522	18975372	18975372	Missense_Mutation	C	T	p.R128C
HEC6_ENDOMETRIUM	18975346	18975522	18975373	18975373	Missense_Mutation	G	A	p.R128H
PANC0813_PANCREAS	18975346	18975522	18975484	18975484	Missense_Mutation	G	C	p.R165P
SNU738_CENTRAL_NERVOUS_SYSTEM	18975346	18975522	18975514	18975514	Missense_Mutation	C	A	p.A175E
SNU1040_LARGE_INTESTINE	18981111	18981287	18981231	18981231	Missense_Mutation	A	G	p.Y218C
RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19029471	19029797	19029575	19029575	Missense_Mutation	G	C	p.V500L
MCC13_SKIN	19029471	19029797	19029666	19029666	Missense_Mutation	C	T	p.S530F
NCIH2087_LUNG	19029471	19029797	19029714	19029714	Missense_Mutation	G	A	p.R546K
MKN74_STOMACH	19065581	19065714	19065644	19065644	Missense_Mutation	T	A	p.W874R
MKN28_STOMACH	19065581	19065714	19065644	19065644	Missense_Mutation	T	A	p.W874R
CL14_LARGE_INTESTINE	19065581	19065714	19065680	19065680	Missense_Mutation	A	C	p.T886P
JHH5_LIVER	19097995	19098195	19098115	19098115	Missense_Mutation	T	C	p.Y1798H
NCIH524_LUNG	18975346	18975522	18975483	18975483	Nonsense_Mutation	C	T	p.R165*
SNU81_LARGE_INTESTINE	18981111	18981287	18981152	18981152	Nonsense_Mutation	C	T	p.R192*
HCT15_LARGE_INTESTINE	19052992	19053172	19053171	19053171	Splice_Site	A	C	p.S788R
NCIH128_LUNG	19065581	19065714	19065714	19065714	Splice_Site	G	C	p.R897T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GREB1L

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 GREB1L

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GREB1L

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RelatedDrugs for GREB1L

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 GREB1L

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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