ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GTF2IRD1

Gene summary

Gene information	Gene symbol	GTF2IRD1
	Gene ID	9569
	Gene name	GTF2I repeat domain containing 1
	Synonyms	BEN\|CREAM1\|GTF3\|MUSTRD1\|RBAP2\|WBS\|WBSCR11\|WBSCR12\|hMusTRD1alpha1
	Cytomap	7q11.23
	Type of gene	protein-coding
	Description	general transcription factor II-I repeat domain-containing protein 1USE B1-binding proteinWilliams-Beuren syndrome chromosome region 11binding factor for early enhancergeneral transcription factor 3general transcription factor IIImuscle TFII-I repea
	Modification date	20180522
	UniProtAcc	Q9UHL9
	Context	PubMed: GTF2IRD1 [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

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Exon skipping events across known transcript of Ensembl for GTF2IRD1 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 GTF2IRD1

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 GTF2IRD1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_467057	7	73868438:73868506:73922404:73922533:73927159:73927301	73922404:73922533	ENSG00000006704.6	ENST00000424337.2,ENST00000455841.2
exon_skip_467059	7	73922404:73922533:73927159:73927301:73929770:73929926	73927159:73927301	ENSG00000006704.6	ENST00000489094.1,ENST00000424337.2,ENST00000265755.3,ENST00000476977.1
exon_skip_467063	7	73927159:73927301:73929674:73929926:73932468:73932652	73929674:73929926	ENSG00000006704.6	ENST00000455841.2
exon_skip_467065	7	73927159:73927301:73929770:73929926:73932468:73932652	73929770:73929926	ENSG00000006704.6	ENST00000489094.1,ENST00000424337.2,ENST00000265755.3,ENST00000476977.1
exon_skip_467067	7	73935542:73935627:73938400:73938484:73944063:73944247	73938400:73938484	ENSG00000006704.6	ENST00000489094.1,ENST00000424337.2,ENST00000265755.3,ENST00000476977.1,ENST00000455841.2
exon_skip_467077	7	73952465:73952503:73953009:73953090:73954208:73954298	73953009:73953090	ENSG00000006704.6	ENST00000489094.1,ENST00000424337.2,ENST00000265755.3,ENST00000476977.1,ENST00000455841.2
exon_skip_467078	7	73953009:73953090:73954208:73954298:73959084:73959132	73954208:73954298	ENSG00000006704.6	ENST00000489094.1,ENST00000424337.2,ENST00000265755.3,ENST00000476977.1,ENST00000455841.2
exon_skip_467079	7	73954208:73954298:73959084:73959132:73960073:73960139	73959084:73959132	ENSG00000006704.6	ENST00000489094.1,ENST00000424337.2,ENST00000265755.3,ENST00000476977.1,ENST00000455841.2
exon_skip_467082	7	73960091:73960139:73961432:73961616:73969503:73969553	73961432:73961616	ENSG00000006704.6	ENST00000489094.1,ENST00000424337.2,ENST00000265755.3,ENST00000476977.1,ENST00000455841.2
exon_skip_467085	7	73961432:73961616:73969503:73969553:73971968:73972052	73969503:73969553	ENSG00000006704.6	ENST00000489094.1
exon_skip_467086	7	73969503:73969553:73969722:73969824:73971968:73972052	73969722:73969824	ENSG00000006704.6	ENST00000265755.3
exon_skip_467087	7	73969503:73969553:73969767:73969824:73971968:73972052	73969767:73969824	ENSG00000006704.6	ENST00000424337.2,ENST00000476977.1,ENST00000470715.1,ENST00000455841.2
exon_skip_467088	7	73969767:73969824:73971968:73972052:73973190:73973374	73971968:73972052	ENSG00000006704.6	ENST00000424337.2,ENST00000265755.3,ENST00000476977.1,ENST00000470715.1,ENST00000455841.2
exon_skip_467089	7	73973190:73973374:73973956:73973985:74004179:74004257	73973956:73973985	ENSG00000006704.6	ENST00000424337.2,ENST00000265755.3,ENST00000476977.1,ENST00000470715.1,ENST00000455841.2
exon_skip_467091	7	73973956:73973985:74004179:74004257:74005153:74005346	74004179:74004257	ENSG00000006704.6	ENST00000424337.2,ENST00000265755.3,ENST00000476977.1,ENST00000470715.1,ENST00000455841.2
exon_skip_467092	7	74005153:74005346:74009340:74009378:74015370:74015433	74009340:74009378	ENSG00000006704.6	ENST00000424337.2,ENST00000265755.3,ENST00000476977.1,ENST00000470715.1,ENST00000455841.2
exon_skip_467095	7	74009340:74009378:74015370:74015507:74016691:74016910	74015370:74015507	ENSG00000006704.6	ENST00000424337.2,ENST00000265755.3,ENST00000455841.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GTF2IRD1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_467057	7	73868438:73868506:73922404:73922533:73927159:73927301	73922404:73922533	ENSG00000006704.6	ENST00000455841.2,ENST00000424337.2
exon_skip_467059	7	73922404:73922533:73927159:73927301:73929770:73929926	73927159:73927301	ENSG00000006704.6	ENST00000265755.3,ENST00000424337.2,ENST00000476977.1,ENST00000489094.1
exon_skip_467063	7	73927159:73927301:73929674:73929926:73932468:73932652	73929674:73929926	ENSG00000006704.6	ENST00000455841.2
exon_skip_467065	7	73927159:73927301:73929770:73929926:73932468:73932652	73929770:73929926	ENSG00000006704.6	ENST00000265755.3,ENST00000424337.2,ENST00000476977.1,ENST00000489094.1
exon_skip_467067	7	73935542:73935627:73938400:73938484:73944063:73944247	73938400:73938484	ENSG00000006704.6	ENST00000265755.3,ENST00000455841.2,ENST00000424337.2,ENST00000476977.1,ENST00000489094.1
exon_skip_467078	7	73953009:73953090:73954208:73954298:73959084:73959132	73954208:73954298	ENSG00000006704.6	ENST00000265755.3,ENST00000455841.2,ENST00000424337.2,ENST00000476977.1,ENST00000489094.1
exon_skip_467079	7	73954208:73954298:73959084:73959132:73960073:73960139	73959084:73959132	ENSG00000006704.6	ENST00000265755.3,ENST00000455841.2,ENST00000424337.2,ENST00000476977.1,ENST00000489094.1
exon_skip_467082	7	73960091:73960139:73961432:73961616:73969503:73969553	73961432:73961616	ENSG00000006704.6	ENST00000265755.3,ENST00000455841.2,ENST00000424337.2,ENST00000476977.1,ENST00000489094.1
exon_skip_467085	7	73961432:73961616:73969503:73969553:73971968:73972052	73969503:73969553	ENSG00000006704.6	ENST00000489094.1
exon_skip_467086	7	73969503:73969553:73969722:73969824:73971968:73972052	73969722:73969824	ENSG00000006704.6	ENST00000265755.3
exon_skip_467087	7	73969503:73969553:73969767:73969824:73971968:73972052	73969767:73969824	ENSG00000006704.6	ENST00000455841.2,ENST00000424337.2,ENST00000476977.1,ENST00000470715.1
exon_skip_467088	7	73969767:73969824:73971968:73972052:73973190:73973374	73971968:73972052	ENSG00000006704.6	ENST00000265755.3,ENST00000455841.2,ENST00000424337.2,ENST00000476977.1,ENST00000470715.1
exon_skip_467089	7	73973190:73973374:73973956:73973985:74004179:74004257	73973956:73973985	ENSG00000006704.6	ENST00000265755.3,ENST00000455841.2,ENST00000424337.2,ENST00000476977.1,ENST00000470715.1
exon_skip_467092	7	74005153:74005346:74009340:74009378:74015370:74015433	74009340:74009378	ENSG00000006704.6	ENST00000265755.3,ENST00000455841.2,ENST00000424337.2,ENST00000476977.1,ENST00000470715.1
exon_skip_467095	7	74009340:74009378:74015370:74015507:74016691:74016910	74015370:74015507	ENSG00000006704.6	ENST00000265755.3,ENST00000455841.2,ENST00000424337.2

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 GTF2IRD1

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
ENST00000265755	73927159	73927301	Frame-shift
ENST00000265755	73961432	73961616	Frame-shift
ENST00000265755	73973956	73973985	Frame-shift
ENST00000265755	74009340	74009378	Frame-shift
ENST00000265755	74015370	74015507	Frame-shift
ENST00000265755	73929770	73929926	In-frame
ENST00000265755	73938400	73938484	In-frame
ENST00000265755	73953009	73953090	In-frame
ENST00000265755	73954208	73954298	In-frame
ENST00000265755	73959084	73959132	In-frame
ENST00000265755	73969722	73969824	In-frame
ENST00000265755	73971968	73972052	In-frame
ENST00000265755	74004179	74004257	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
ENST00000265755	73927159	73927301	Frame-shift
ENST00000265755	73961432	73961616	Frame-shift
ENST00000265755	73973956	73973985	Frame-shift
ENST00000265755	74009340	74009378	Frame-shift
ENST00000265755	74015370	74015507	Frame-shift
ENST00000265755	73929770	73929926	In-frame
ENST00000265755	73938400	73938484	In-frame
ENST00000265755	73954208	73954298	In-frame
ENST00000265755	73959084	73959132	In-frame
ENST00000265755	73969722	73969824	In-frame
ENST00000265755	73971968	73972052	In-frame

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Infer the effects of exon skipping event on protein functional features for GTF2IRD1

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
ENST00000265755	3447	959	73929770	73929926	659	814	88	140
ENST00000265755	3447	959	73938400	73938484	1400	1483	335	363
ENST00000265755	3447	959	73953009	73953090	1841	1921	482	509
ENST00000265755	3447	959	73954208	73954298	1922	2011	509	539
ENST00000265755	3447	959	73959084	73959132	2012	2059	539	555
ENST00000265755	3447	959	73969722	73969824	2360	2461	655	689
ENST00000265755	3447	959	73971968	73972052	2462	2545	689	717
ENST00000265755	3447	959	74004179	74004257	2759	2836	788	814

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
ENST00000265755	3447	959	73929770	73929926	659	814	88	140
ENST00000265755	3447	959	73938400	73938484	1400	1483	335	363
ENST00000265755	3447	959	73954208	73954298	1922	2011	509	539
ENST00000265755	3447	959	73959084	73959132	2012	2059	539	555
ENST00000265755	3447	959	73969722	73969824	2360	2461	655	689
ENST00000265755	3447	959	73971968	73972052	2462	2545	689	717

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
Q9UHL9	88	140	89	89	Alternative sequence	ID=VSP_043425;Note=In isoform 3. R->LSAAQHRAATSQLEGRVVRRVLTVASRALCPTG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.6
Q9UHL9	88	140	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	88	140	94	94	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UHL9	88	140	128	144	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D99
Q9UHL9	88	140	119	213	Repeat	Note=GTF2I-like 1
Q9UHL9	88	140	111	111	Sequence conflict	Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UHL9	88	140	111	111	Sequence conflict	Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UHL9	335	363	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	335	363	337	337	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:25772364,PMI
Q9UHL9	335	363	342	436	Repeat	Note=GTF2I-like 2
Q9UHL9	482	509	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	509	539	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	539	555	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	655	689	656	670	Alternative sequence	ID=VSP_003873;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10198167,ECO:0000303\|PubMed:10575229,ECO:0000303\|PubMed:9774679,ECO:0000303\|Ref.6;Dbxref=PMID:10198167,PMID:10
Q9UHL9	655	689	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	655	689	684	684	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9UHL9	689	717	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	689	717	705	721	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DZR
Q9UHL9	689	717	696	790	Repeat	Note=GTF2I-like 4
Q9UHL9	788	814	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	788	814	802	817	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DN5
Q9UHL9	788	814	696	790	Repeat	Note=GTF2I-like 4
Q9UHL9	788	814	793	887	Repeat	Note=GTF2I-like 5

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
Q9UHL9	88	140	89	89	Alternative sequence	ID=VSP_043425;Note=In isoform 3. R->LSAAQHRAATSQLEGRVVRRVLTVASRALCPTG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.6
Q9UHL9	88	140	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	88	140	94	94	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UHL9	88	140	128	144	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D99
Q9UHL9	88	140	119	213	Repeat	Note=GTF2I-like 1
Q9UHL9	88	140	111	111	Sequence conflict	Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UHL9	88	140	111	111	Sequence conflict	Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UHL9	335	363	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	335	363	337	337	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:25772364,PMI
Q9UHL9	335	363	342	436	Repeat	Note=GTF2I-like 2
Q9UHL9	509	539	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	539	555	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	655	689	656	670	Alternative sequence	ID=VSP_003873;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10198167,ECO:0000303\|PubMed:10575229,ECO:0000303\|PubMed:9774679,ECO:0000303\|Ref.6;Dbxref=PMID:10198167,PMID:10
Q9UHL9	655	689	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	655	689	684	684	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9UHL9	689	717	1	959	Chain	ID=PRO_0000083870;Note=General transcription factor II-I repeat domain-containing protein 1
Q9UHL9	689	717	705	721	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DZR
Q9UHL9	689	717	696	790	Repeat	Note=GTF2I-like 4

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SNVs in the skipped exons for GTF2IRD1

- 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.

GTF2IRD1_LUSC_exon_skip_467086_psi_boxplot.png
boxplot

- 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
LUAD	TCGA-64-1679-01	exon_skip_467059	73927160	73927301	73927187	73927187	Nonsense_Mutation	G	T	p.E51*
UCEC	TCGA-D1-A17N-01	exon_skip_467086 exon_skip_467087	73969723	73969824	73969767	73969767	Nonsense_Mutation	G	T	p.E671*
SKCM	TCGA-WE-A8ZT-06	exon_skip_467088	73971969	73972052	73972046	73972046	Nonsense_Mutation	A	T	p.K701*
SARC	TCGA-X6-A7WA-01	exon_skip_467091	74004180	74004257	74004248	74004248	Nonsense_Mutation	G	T	p.E797*
LUAD	TCGA-91-6829-01	exon_skip_467091	74004180	74004257	74004251	74004251	Nonsense_Mutation	A	T	p.K798*
LUAD	TCGA-91-6829-01	exon_skip_467091	74004180	74004257	74004251	74004251	Nonsense_Mutation	A	T	p.K813*
CHOL	TCGA-W5-AA2X-01	exon_skip_467059	73927160	73927301	73927158	73927158	Splice_Site	A	G	.
LUSC	TCGA-18-3411-01	exon_skip_467086 exon_skip_467087	73969723	73969824	73969722	73969722	Splice_Site	G	C	p.G656_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-18-3411-01
	Cancer type: LUSC
	ESID: exon_skip_467087
	Skipped exon start: 73969723
	Skipped exon end: 73969824
	Mutation start: 73969722
	Mutation end: 73969722
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: C
	AAchange: p.G656_splice
exon_skip_467086_LUSC_TCGA-18-3411-01.png

- 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
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73922405	73922533	73922417	73922417	Missense_Mutation	T	G	p.L3V
HCC78_LUNG	73922405	73922533	73922453	73922453	Missense_Mutation	T	A	p.C15S
LC2AD_LUNG	73922405	73922533	73922466	73922466	Missense_Mutation	G	T	p.R19L
LIM1215_LARGE_INTESTINE	73922405	73922533	73922487	73922487	Missense_Mutation	G	A	p.R26H
MDAMB361_BREAST	73927160	73927301	73927209	73927209	Missense_Mutation	A	G	p.H58R
COLO678_LARGE_INTESTINE	73927160	73927301	73927248	73927248	Missense_Mutation	G	A	p.R71K
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73929771	73929926	73929780	73929780	Missense_Mutation	C	T	p.P92L
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73929675	73929926	73929780	73929780	Missense_Mutation	C	T	p.P92L
MDAMB175VII_BREAST	73929771	73929926	73929834	73929834	Missense_Mutation	G	T	p.G110V
MDAMB175VII_BREAST	73929675	73929926	73929834	73929834	Missense_Mutation	G	T	p.G110V
A375_SKIN	73929771	73929926	73929858	73929858	Missense_Mutation	C	T	p.S118F
A375_SKIN	73929675	73929926	73929858	73929858	Missense_Mutation	C	T	p.S118F
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73929771	73929926	73929904	73929904	Missense_Mutation	G	T	p.E133D
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73929675	73929926	73929904	73929904	Missense_Mutation	G	T	p.E133D
TTC442_SOFT_TISSUE	73929771	73929926	73929907	73929907	Missense_Mutation	G	T	p.E134D
TTC442_SOFT_TISSUE	73929675	73929926	73929907	73929907	Missense_Mutation	G	T	p.E134D
HCT15_LARGE_INTESTINE	73938401	73938484	73938476	73938476	Missense_Mutation	G	T	p.S361I
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73953010	73953090	73953030	73953030	Missense_Mutation	G	A	p.G490R
PK1_PANCREAS	73953010	73953090	73953030	73953030	Missense_Mutation	G	A	p.G490R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73953010	73953090	73953039	73953039	Missense_Mutation	C	T	p.P493S
SW579_THYROID	73954209	73954298	73954260	73954260	Missense_Mutation	C	T	p.P527L
CGTHW1_THYROID	73954209	73954298	73954260	73954260	Missense_Mutation	C	T	p.P527L
CAOV4_OVARY	73959085	73959132	73959087	73959087	Missense_Mutation	A	G	p.K541E
SNU1_STOMACH	73961433	73961616	73961468	73961468	Missense_Mutation	C	A	p.P590T
HEC108_ENDOMETRIUM	73961433	73961616	73961534	73961534	Missense_Mutation	C	A	p.L612I
IGROV1_OVARY	73961433	73961616	73961556	73961556	Missense_Mutation	G	A	p.G619E
LS180_LARGE_INTESTINE	73961433	73961616	73961561	73961561	Missense_Mutation	G	A	p.A621T
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73961433	73961616	73961589	73961589	Missense_Mutation	G	A	p.S630N
MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73969504	73969553	73969520	73969520	Missense_Mutation	G	A	p.E645K
HEC59_ENDOMETRIUM	73969504	73969553	73969539	73969539	Missense_Mutation	T	G	p.I651S
NCIH2023_LUNG	73969723	73969824	73969815	73969815	Missense_Mutation	G	C	p.G687R
NCIH2023_LUNG	73969768	73969824	73969815	73969815	Missense_Mutation	G	C	p.G687R
NCIH2286_LUNG	74004180	74004257	74004190	74004190	Missense_Mutation	C	A	p.D792E
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74004180	74004257	74004221	74004221	Missense_Mutation	C	T	p.R803W
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74009341	74009378	74009376	74009376	Missense_Mutation	C	T	p.P891L
RKO_LARGE_INTESTINE	74015371	74015507	74015406	74015406	Missense_Mutation	C	T	p.R904W
MM127_SKIN	74015371	74015507	74015425	74015425	Missense_Mutation	C	T	p.S910F
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74015371	74015507	74015434	74015434	Missense_Mutation	C	T	p.S913F
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73969723	73969824	73969723	73969723	Splice_Site	G	A	p.G656E

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GTF2IRD1

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 GTF2IRD1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GTF2IRD1

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RelatedDrugs for GTF2IRD1

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 GTF2IRD1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
GTF2IRD1	C0175702	Williams Syndrome	1	CTD_human;ORPHANET
GTF2IRD1	C0376634	Craniofacial Abnormalities	1	CTD_human

	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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