ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for GTF2I

Gene summary

Gene information	Gene symbol	GTF2I
	Gene ID	2969
	Gene name	general transcription factor IIi
	Synonyms	BAP135\|BTKAP1\|DIWS\|GTFII-I\|IB291\|SPIN\|TFII-I\|WBS\|WBSCR6
	Cytomap	7q11.23
	Type of gene	protein-coding
	Description	general transcription factor II-IBTK-associated protein, 135kDBruton tyrosine kinase-associated protein 135SRF-Phox1-interacting proteinWilliams-Beuren syndrome chromosome region 6
	Modification date	20200313
	UniProtAcc	A0A1W6S962, A0A494C013, A0A494C0Q7, A0A494C1K3, C9J6M0, P78347, Q499G6, X5D2J9, X5D7Q9, X5D939, X5DNP5, X5DR09,
	Context

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

Gene	GO ID	GO term	PubMed ID
GTF2I	GO:0016525	negative regulation of angiogenesis	19242469

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Gene structures and expression levels for GTF2I

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000263001

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
PG	UP	ENST00000620879.4	GTF2I-218:protein_coding:GTF2I	3.654847e+02	9.940532e-01	1.477410e-11	1.487973e-08
CB	UP	ENST00000620631.4	GTF2I-217:nonsense_mediated_decay:GTF2I	8.144191e+01	8.225326e-01	5.948646e-06	6.786622e-05
CB	UP	ENST00000613513.1	GTF2I-213:lncRNA:GTF2I	8.427623e+00	1.892288e+00	7.194518e-05	5.605389e-04
CB	UP	ENST00000491325.5	GTF2I-211:lncRNA:GTF2I	3.393419e+01	9.562179e-01	5.662199e-04	3.200944e-03
CB	UP	ENST00000464471.1	GTF2I-205:retained_intron:GTF2I	3.944201e+00	1.203676e+00	9.814128e-04	5.082486e-03
CB	UP	ENST00000443166.5	GTF2I-203:protein_coding:GTF2I	2.002729e+02	1.056109e+00	1.846309e-03	8.629443e-03
TC	UP	ENST00000613513.1	GTF2I-213:lncRNA:GTF2I	3.369328e+00	1.631861e+00	3.055993e-03	2.312776e-02

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GTF2I

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_103494	chr7	74757959:74758000:74758780:74758855:74759548:74760692	74758780:74758855
exon_skip_105457	chr7	74711032:74711109:74714857:74714916:74716894:74716950	74714857:74714916
exon_skip_111537	chr7	74751361:74751416:74752090:74752170:74753094:74753177	74752090:74752170
exon_skip_113774	chr7	74733923:74733981:74735461:74735532:74736500:74736617	74735461:74735532
exon_skip_134225	chr7	74706390:74706433:74711032:74711109:74716894:74716950	74711032:74711109
exon_skip_139250	chr7	74755509:74755537:74756820:74756861:74757959:74758000	74756820:74756861
exon_skip_166030	chr7	74756821:74756861:74757959:74758000:74758780:74758855	74757959:74758000
exon_skip_187657	chr7	74690973:74691111:74698961:74699095:74700247:74700430	74698961:74699095
exon_skip_203994	chr7	74756820:74756861:74757959:74758000:74758780:74758855	74757959:74758000
exon_skip_204298	chr7	74736503:74736683:74738045:74738103:74743449:74743520	74738045:74738103
exon_skip_218979	chr7	74658031:74658068:74689124:74689227:74690973:74691108	74689124:74689227
exon_skip_229255	chr7	74733923:74733981:74735461:74735532:74736500:74736683	74735461:74735532
exon_skip_240660	chr7	74705177:74705218:74706390:74706433:74711032:74711109	74706390:74706433
exon_skip_253547	chr7	74711032:74711109:74716894:74716950:74728786:74728896	74716894:74716950
exon_skip_254242	chr7	74743458:74743520:74744139:74744250:74744758:74744941	74744139:74744250
exon_skip_255241	chr7	74689124:74689227:74690973:74691111:74698961:74699041	74690973:74691111
exon_skip_255778	chr7	74732537:74732662:74733923:74733981:74735461:74735513	74733923:74733981
exon_skip_261774	chr7	74743449:74743520:74744139:74744250:74744758:74744941	74744139:74744250
exon_skip_28179	chr7	74752090:74752170:74753094:74753177:74753846:74754029	74753094:74753177
exon_skip_33087	chr7	74728786:74728896:74730229:74730294:74732479:74732662	74730229:74730294
exon_skip_33714	chr7	74716894:74716950:74718879:74718941:74728786:74728896	74718879:74718941
exon_skip_40311	chr7	74716896:74716950:74718879:74718941:74728786:74728896	74718879:74718941
exon_skip_55604	chr7	74753846:74754029:74755509:74755537:74756820:74756861	74755509:74755537
exon_skip_83124	chr7	74735461:74735532:74736500:74736683:74738045:74738103	74736500:74736683
exon_skip_87253	chr7	74735466:74735532:74736500:74736683:74738045:74738103	74736500:74736683

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information	Tissue type	Avg(PSIs) in AD	Avg(PSIs) in control	Difference (PSI)	Adj. p-value
exon_skip_105457	MSBB_PG	3.577181e-01	5.075862e-01	-1.498681e-01	4.070127e-07

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Open reading frame (ORF) annotation in the exon skipping event for GTF2I

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000573035	74758780	74758855	3UTR-3CDS
ENST00000573035	74689124	74689227	5CDS-5UTR
ENST00000573035	74690973	74691111	Frame-shift
ENST00000573035	74733923	74733981	Frame-shift
ENST00000573035	74736500	74736683	Frame-shift
ENST00000573035	74738045	74738103	Frame-shift
ENST00000573035	74755509	74755537	Frame-shift
ENST00000573035	74714857	74714916	In-frame
ENST00000573035	74718879	74718941	In-frame
ENST00000573035	74735461	74735532	In-frame
ENST00000573035	74752090	74752170	In-frame
ENST00000573035	74753094	74753177	In-frame
ENST00000573035	74756820	74756861	In-frame
ENST00000573035	74757959	74758000	In-frame

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000573035	74733923	74733981	Frame-shift
ENST00000573035	74736500	74736683	Frame-shift
ENST00000573035	74738045	74738103	Frame-shift
ENST00000573035	74755509	74755537	Frame-shift
ENST00000573035	74714857	74714916	In-frame
ENST00000573035	74718879	74718941	In-frame
ENST00000573035	74730229	74730294	In-frame
ENST00000573035	74753094	74753177	In-frame
ENST00000573035	74756820	74756861	In-frame
ENST00000573035	74757959	74758000	In-frame

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000573035	74689124	74689227	5CDS-5UTR
ENST00000573035	74690973	74691111	Frame-shift
ENST00000573035	74706390	74706433	Frame-shift
ENST00000573035	74733923	74733981	Frame-shift
ENST00000573035	74736500	74736683	Frame-shift
ENST00000573035	74738045	74738103	Frame-shift
ENST00000573035	74755509	74755537	Frame-shift
ENST00000573035	74698961	74699095	In-frame
ENST00000573035	74714857	74714916	In-frame
ENST00000573035	74718879	74718941	In-frame
ENST00000573035	74730229	74730294	In-frame
ENST00000573035	74735461	74735532	In-frame
ENST00000573035	74752090	74752170	In-frame
ENST00000573035	74756820	74756861	In-frame
ENST00000573035	74757959	74758000	In-frame

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Infer the effects of exon skipping event on protein functional features for GTF2I

p-ENSG00000263001_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000573035	4565	998	74714857	74714916	1154	1212	255	274
ENST00000573035	4565	998	74718879	74718941	1271	1332	294	314
ENST00000573035	4565	998	74735461	74735532	1754	1824	455	478
ENST00000573035	4565	998	74752090	74752170	2867	2946	826	852
ENST00000573035	4565	998	74753094	74753177	2948	3030	853	880
ENST00000573035	4565	998	74756820	74756861	3245	3285	952	965
ENST00000573035	4565	998	74757959	74758000	3287	3327	966	979

Loci of skipped exons in MSBB 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
ENST00000573035	4565	998	74714857	74714916	1154	1212	255	274
ENST00000573035	4565	998	74718879	74718941	1271	1332	294	314
ENST00000573035	4565	998	74730229	74730294	1445	1509	352	373
ENST00000573035	4565	998	74753094	74753177	2948	3030	853	880
ENST00000573035	4565	998	74756820	74756861	3245	3285	952	965
ENST00000573035	4565	998	74757959	74758000	3287	3327	966	979

Loci of skipped exons in Mayo 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
ENST00000573035	4565	998	74698961	74699095	629	762	80	124
ENST00000573035	4565	998	74714857	74714916	1154	1212	255	274
ENST00000573035	4565	998	74718879	74718941	1271	1332	294	314
ENST00000573035	4565	998	74730229	74730294	1445	1509	352	373
ENST00000573035	4565	998	74735461	74735532	1754	1824	455	478
ENST00000573035	4565	998	74752090	74752170	2867	2946	826	852
ENST00000573035	4565	998	74756820	74756861	3245	3285	952	965
ENST00000573035	4565	998	74757959	74758000	3287	3327	966	979

Lost protein functional features of individual exon skipping events in ROSMAP.

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
P78347	255	274	255	274	Alternative sequence	ID=VSP_003867;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9012831,ECO:0000303\|PubMed:9334314,ECO:000030
P78347	255	274	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	294	314	294	314	Alternative sequence	ID=VSP_003868;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9012831,ECO:0000303\|PubMed:9334314,ECO:0000303\|PubMed:9384587,ECO:0000
P78347	294	314	294	294	Alternative sequence	ID=VSP_055195;Note=In isoform 5. D->G;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	294	314	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	294	314	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	455	478	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	455	478	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	455	478	456	456	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:2811273
P78347	455	478	466	482	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ED2
P78347	455	478	460	460	Mutagenesis	Note=No change on BTK-mediated transcriptional activation. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11373296;Dbxref=PMID:11373296
P78347	455	478	457	551	Repeat	Note=GTF2I-like 3
P78347	826	852	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	826	852	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	826	852	827	827	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
P78347	853	880	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	853	880	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	853	880	861	861	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
P78347	853	880	864	864	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
P78347	853	880	879	879	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
P78347	853	880	861	883	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EJE
P78347	853	880	859	953	Repeat	Note=GTF2I-like 6
P78347	853	880	856	858	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EJE
P78347	952	965	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	952	965	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	952	965	859	953	Repeat	Note=GTF2I-like 6
P78347	952	965	960	960	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78347	966	979	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	966	979	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I

Lost protein functional features of individual exon skipping events in MSBB.

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
P78347	255	274	255	274	Alternative sequence	ID=VSP_003867;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9012831,ECO:0000303\|PubMed:9334314,ECO:000030
P78347	255	274	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	294	314	294	314	Alternative sequence	ID=VSP_003868;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9012831,ECO:0000303\|PubMed:9334314,ECO:0000303\|PubMed:9384587,ECO:0000
P78347	294	314	294	294	Alternative sequence	ID=VSP_055195;Note=In isoform 5. D->G;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	294	314	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	294	314	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	352	373	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	352	373	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	352	373	353	353	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;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
P78347	352	373	361	376	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DN4
P78347	352	373	353	353	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9ESZ8
P78347	352	373	352	446	Repeat	Note=GTF2I-like 2
P78347	853	880	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	853	880	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	853	880	861	861	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
P78347	853	880	864	864	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
P78347	853	880	879	879	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
P78347	853	880	861	883	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EJE
P78347	853	880	859	953	Repeat	Note=GTF2I-like 6
P78347	853	880	856	858	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EJE
P78347	952	965	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	952	965	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	952	965	859	953	Repeat	Note=GTF2I-like 6
P78347	952	965	960	960	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78347	966	979	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	966	979	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I

Lost protein functional features of individual exon skipping events in Mayo.

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
P78347	80	124	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	80	124	86	86	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733
P78347	80	124	92	92	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
P78347	80	124	94	94	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
P78347	80	124	106	128	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2D9B
P78347	80	124	103	103	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:1
P78347	80	124	103	197	Repeat	Note=GTF2I-like 1
P78347	255	274	255	274	Alternative sequence	ID=VSP_003867;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9012831,ECO:0000303\|PubMed:9334314,ECO:000030
P78347	255	274	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	294	314	294	314	Alternative sequence	ID=VSP_003868;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9012831,ECO:0000303\|PubMed:9334314,ECO:0000303\|PubMed:9384587,ECO:0000
P78347	294	314	294	294	Alternative sequence	ID=VSP_055195;Note=In isoform 5. D->G;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	294	314	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	294	314	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	352	373	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	352	373	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	352	373	353	353	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;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
P78347	352	373	361	376	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DN4
P78347	352	373	353	353	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9ESZ8
P78347	352	373	352	446	Repeat	Note=GTF2I-like 2
P78347	455	478	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	455	478	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	455	478	456	456	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:2811273
P78347	455	478	466	482	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ED2
P78347	455	478	460	460	Mutagenesis	Note=No change on BTK-mediated transcriptional activation. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11373296;Dbxref=PMID:11373296
P78347	455	478	457	551	Repeat	Note=GTF2I-like 3
P78347	826	852	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	826	852	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	826	852	827	827	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
P78347	952	965	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	952	965	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I
P78347	952	965	859	953	Repeat	Note=GTF2I-like 6
P78347	952	965	960	960	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78347	966	979	295	998	Alternative sequence	ID=VSP_055196;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.5;Dbxref=PMID:15489334
P78347	966	979	2	998	Chain	ID=PRO_0000083872;Note=General transcription factor II-I

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3'-UTR located exon skipping events that lost miRNA binding sites in GTF2I

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for GTF2I

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for GTF2I

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

ADstage

MSBB

exon_skip_33714

-3.004735e-01

9.850000e-06

chr7

74716894

74716950

74718879

74718941

74728786

74728896

CDR

MSBB

IFG

exon_skip_33714

-4.858629e-01

8.761978e-03

chr7

74716894

74716950

74718879

74718941

74728786

74728896

CDR

MSBB

IFG

exon_skip_105457

-4.279735e-01

2.309041e-02

chr7

74711032

74711109

74714857

74714916

74716894

74716950

CDR

MSBB

exon_skip_33714

-3.047201e-01

7.260000e-06

chr7

74716894

74716950

74718879

74718941

74728786

74728896

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GTF2I

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for GTF2I

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	NUP42	exon_skip_105457	6.577924e-01	6.039556e-21
CB	PABPC4	exon_skip_105457	4.077018e-01	1.055551e-07
CB	SRSF9	exon_skip_105457	4.738663e-01	3.200564e-10
CB	HNRNPK	exon_skip_74519	4.054411e-01	1.516930e-07
CB	NUP42	exon_skip_74519	6.259719e-01	2.377005e-18
CB	SRSF9	exon_skip_74519	5.045361e-01	1.873716e-11
CB	RBM6	exon_skip_40311	-5.356217e-01	3.472594e-13
CB	RBM3	exon_skip_40311	6.514505e-01	1.432171e-20
CB	TRA2A	exon_skip_40311	-5.436819e-01	1.306078e-13
CB	NUP42	exon_skip_40311	5.718594e-01	3.455925e-15
CB	PABPC1	exon_skip_40311	4.189066e-01	3.898093e-08
CB	RBM6	exon_skip_87253	-5.627297e-01	1.714428e-14
CB	TRA2A	exon_skip_87253	-4.725470e-01	4.140816e-10
CB	RBM4B	exon_skip_87253	-4.506172e-01	3.181769e-09
DLPFC	RC3H1	exon_skip_105457	4.223700e-01	8.513611e-16
DLPFC	RBM3	exon_skip_33714	5.637786e-01	7.818917e-30
FL	SRSF11	exon_skip_105457	4.391844e-01	9.630452e-11
FL	HNRNPK	exon_skip_105457	5.962645e-01	1.895405e-20
FL	NUP42	exon_skip_105457	5.241959e-01	2.270460e-15
FL	SRSF9	exon_skip_105457	5.354045e-01	4.410264e-16
FL	HNRNPK	exon_skip_74519	5.367189e-01	3.624696e-16
FL	NUP42	exon_skip_74519	4.447430e-01	5.230718e-11
FL	SRSF9	exon_skip_74519	5.351343e-01	4.591210e-16
FL	RBM3	exon_skip_33714	6.754811e-01	9.778232e-28
HCC	RBM6	exon_skip_105457	-6.923833e-01	3.736390e-40
HCC	SRSF11	exon_skip_105457	-5.791744e-01	9.157716e-26
HCC	RBM5	exon_skip_105457	-6.454468e-01	1.901523e-33
HCC	IGF2BP2	exon_skip_105457	-4.410381e-01	2.253140e-14
HCC	PCBP1	exon_skip_105457	-4.990601e-01	1.547546e-18
HCC	TRA2A	exon_skip_105457	-4.427080e-01	1.752620e-14
HCC	RC3H1	exon_skip_105457	-4.034137e-01	4.552069e-12
HCC	PABPC4	exon_skip_105457	-4.860059e-01	1.571513e-17
HCC	RBM6	exon_skip_74519	-6.830569e-01	1.012516e-38
HCC	RBM5	exon_skip_74519	-6.477002e-01	9.638869e-34
HCC	IGF2BP2	exon_skip_74519	-4.430709e-01	1.659189e-14
HCC	PCBP1	exon_skip_74519	-4.592887e-01	1.340871e-15
HCC	PABPC4	exon_skip_74519	-5.023455e-01	8.500404e-19
HCC	PABPN1	exon_skip_33714	-5.055526e-01	4.706709e-19
HCC	RBM6	exon_skip_33714	-5.876407e-01	1.195508e-26
HCC	RBM3	exon_skip_33714	4.853795e-01	1.752050e-17
HCC	TRA2A	exon_skip_33714	-4.320993e-01	8.447366e-14
IFG	RBM6	exon_skip_105457	-5.717038e-01	1.482019e-03
IFG	RBM5	exon_skip_105457	-5.220739e-01	4.376713e-03
IFG	IGF2BP3	exon_skip_105457	-4.375000e-01	1.990036e-02
IFG	IGF2BP2	exon_skip_105457	-4.982812e-01	6.963319e-03
IFG	TRA2A	exon_skip_105457	-5.050736e-01	6.119030e-03
IFG	NUP42	exon_skip_74519	5.352354e-01	3.336488e-03
IFG	PABPN1	exon_skip_33714	-5.288562e-01	3.810630e-03
IFG	RBM6	exon_skip_33714	-7.081574e-01	2.486716e-05
IFG	RBM3	exon_skip_33714	6.385205e-01	2.557175e-04
IFG	TRA2A	exon_skip_33714	-8.087744e-01	1.908425e-07
IFG	PABPC1	exon_skip_33714	-5.981637e-01	7.737693e-04
PCC	RBM6	exon_skip_105457	-4.828961e-01	8.755082e-14
PCC	RBM6	exon_skip_74519	-4.058890e-01	8.185169e-10
PCC	RBM6	exon_skip_33714	-4.117518e-01	4.011656e-10
PCC	RBM3	exon_skip_33714	6.641930e-01	1.794328e-28
PG	SRSF11	exon_skip_105457	4.473149e-01	1.407936e-11
PG	IGF2BP2	exon_skip_105457	-4.020607e-01	1.913892e-09
PG	PCBP1	exon_skip_105457	4.761204e-01	4.141312e-13
PG	HNRNPK	exon_skip_105457	5.398691e-01	4.685088e-17
PG	NUP42	exon_skip_105457	4.657949e-01	1.522813e-12
PG	PCBP1	exon_skip_74519	4.232323e-01	2.849922e-10
PG	HNRNPK	exon_skip_74519	4.903770e-01	9.700082e-14
PG	NUP42	exon_skip_74519	4.205156e-01	3.800173e-10
PG	SRSF9	exon_skip_74519	4.048465e-01	1.902051e-09
PG	RBM3	exon_skip_33714	7.075110e-01	4.826294e-33
STG	IGF2BP2	exon_skip_105457	-4.392952e-01	1.182289e-05
STG	HNRNPK	exon_skip_105457	4.713346e-01	2.114563e-06
STG	NUP42	exon_skip_105457	4.230635e-01	2.651957e-05
STG	SRSF9	exon_skip_105457	4.016786e-01	7.230090e-05
STG	PCBP1	exon_skip_74519	4.647188e-01	3.474582e-06
STG	HNRNPK	exon_skip_74519	4.754263e-01	1.914713e-06
STG	RBM3	exon_skip_33714	7.182929e-01	5.288926e-16
STG	HNRNPK	exon_skip_33714	4.318560e-01	1.544287e-05
STG	NUP42	exon_skip_33714	4.508714e-01	5.750992e-06
STG	SRSF9	exon_skip_33714	4.046394e-01	5.748834e-05
STG	NOVA1	exon_skip_33714	4.669323e-01	2.381350e-06
TC	RBM6	exon_skip_105457	-4.426762e-01	4.593789e-09
TC	NUP42	exon_skip_105457	5.738604e-01	2.151222e-15
TC	RBM6	exon_skip_74519	-4.270082e-01	1.792567e-08
TC	NUP42	exon_skip_74519	5.149561e-01	3.245170e-12
TC	RBM6	exon_skip_33714	-4.484237e-01	2.739290e-09
TC	RBM3	exon_skip_33714	7.637843e-01	7.544222e-32
TC	HNRNPK	exon_skip_33714	4.175955e-01	3.931257e-08
TC	NUP42	exon_skip_33714	5.161699e-01	2.829915e-12
TC	NOVA1	exon_skip_33714	6.520466e-01	9.726860e-21

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RelatedDrugs for GTF2I

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for GTF2I

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for GTF2I

Gene structures and expression levels for GTF2I

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GTF2I

Open reading frame (ORF) annotation in the exon skipping event for GTF2I

Infer the effects of exon skipping event on protein functional features for GTF2I

3'-UTR located exon skipping events that lost miRNA binding sites in GTF2I

SNVs in the skipped exons for GTF2I

AD stage-associated exon skippint events for GTF2I

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GTF2I

Correlation with RNA binding proteins (RBPs) for GTF2I

RelatedDrugs for GTF2I

RelatedDiseases for GTF2I