ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for GIT2

Gene summary

Gene information	Gene symbol	GIT2
	Gene ID	9815
	Gene name	GIT ArfGAP 2
	Synonyms	CAT-2\|CAT2\|PKL
	Cytomap	12q24.11
	Type of gene	protein-coding
	Description	ARF GTPase-activating protein GIT2ARF GAP GIT2G protein-coupled receptor kinase interacting ArfGAP 2G protein-coupled receptor kinase-interactor 2GRK-interacting protein 2Paxillin kinase linkercool-associated, tyrosine phosphorylated protein 2cool-
	Modification date	20200327
	UniProtAcc	A0A024RBI8, B5BU58, F8VXI9, F8W822, F8WAK2, Q14161, Q6FI58, R4GNG3,
	Context

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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Gene structures and expression levels for GIT2

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.

ENSG00000139436

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
CB	DOWN	ENST00000320063.10	GIT2-201:protein_coding:GIT2	6.919584e+00	-1.697892e+00	3.969457e-03	1.626047e-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 GIT2

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_100769	chr12	109948062:109948846:109951167:109951316:109953092:109953234	109951167:109951316
exon_skip_122148	chr12	109965526:109965577:109967458:109967503:109980952:109981046	109967458:109967503
exon_skip_143071	chr12	109965526:109965577:109967314:109967319:109967458:109967503	109967314:109967319
exon_skip_160625	chr12	109945260:109945349:109947256:109947504:109951167:109951316	109947256:109947504
exon_skip_170572	chr12	109939165:109939247:109947256:109947504:109951167:109951316	109947256:109947504
exon_skip_176034	chr12	109939165:109939247:109947256:109947504:109953092:109953234	109947256:109947504
exon_skip_181090	chr12	109939165:109939247:109945260:109945349:109947256:109947504	109945260:109945349
exon_skip_192283	chr12	109953092:109953234:109959847:109959958:109961278:109961375	109959847:109959958
exon_skip_195075	chr12	109939165:109939247:109947256:109948846:109951167:109951316	109947256:109948846
exon_skip_222096	chr12	109989690:109989802:109991627:109991760:109996173:109996224	109991627:109991760
exon_skip_231345	chr12	109989695:109989802:109991627:109991760:109996173:109996224	109991627:109991760
exon_skip_275697	chr12	109933112:109933190:109934022:109934085:109938380:109938568	109934022:109934085
exon_skip_36265	chr12	109947256:109947504:109951167:109951316:109953092:109953234	109951167:109951316
exon_skip_46978	chr12	109983608:109983694:109988963:109989068:109989690:109989802	109988963:109989068
exon_skip_48015	chr12	109965526:109965577:109965760:109965765:109967458:109967503	109965760:109965765
exon_skip_89070	chr12	109945260:109945349:109947256:109947504:109953092:109953234	109947256:109947504
exon_skip_93188	chr12	109939165:109939247:109951212:109951316:109953092:109953234	109951212:109951316

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_143071	Mayo_TC	2.684416e-01	3.860000e-01	-1.175584e-01	1.210538e-04

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Open reading frame (ORF) annotation in the exon skipping event for GIT2

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
ENST00000355312	109934022	109934085	Frame-shift
ENST00000355312	109959847	109959958	Frame-shift
ENST00000355312	109988963	109989068	Frame-shift
ENST00000355312	109991627	109991760	Frame-shift
ENST00000355312	109945260	109945349	In-frame
ENST00000355312	109947256	109947504	In-frame
ENST00000355312	109951167	109951316	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
ENST00000355312	109934022	109934085	Frame-shift
ENST00000355312	109959847	109959958	Frame-shift
ENST00000355312	109967458	109967503	Frame-shift
ENST00000355312	109945260	109945349	In-frame
ENST00000355312	109951167	109951316	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
ENST00000355312	109934022	109934085	Frame-shift
ENST00000355312	109959847	109959958	Frame-shift
ENST00000355312	109988963	109989068	Frame-shift
ENST00000355312	109991627	109991760	Frame-shift
ENST00000355312	109945260	109945349	In-frame
ENST00000355312	109947256	109947504	In-frame
ENST00000355312	109951167	109951316	In-frame

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Infer the effects of exon skipping event on protein functional features for GIT2

p-ENSG00000139436_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
ENST00000355312	5483	759	109951167	109951316	1243	1391	414	463
ENST00000355312	5483	759	109947256	109947504	1393	1640	464	546
ENST00000355312	5483	759	109945260	109945349	1642	1730	547	576

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
ENST00000355312	5483	759	109951167	109951316	1243	1391	414	463
ENST00000355312	5483	759	109945260	109945349	1642	1730	547	576

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
ENST00000355312	5483	759	109951167	109951316	1243	1391	414	463
ENST00000355312	5483	759	109947256	109947504	1393	1640	464	546
ENST00000355312	5483	759	109945260	109945349	1642	1730	547	576

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
Q14161	414	463	334	414	Alternative sequence	ID=VSP_000305;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10896954;Dbxref=PMID:10896954
Q14161	414	463	414	463	Alternative sequence	ID=VSP_008654;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8590280;Dbxref=PMID:8590280
Q14161	414	463	415	449	Alternative sequence	ID=VSP_000306;Note=In isoform 4 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10896954;Dbxref=PMID:10896954
Q14161	414	463	450	464	Alternative sequence	ID=VSP_000307;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10896954,PMID:15489334
Q14161	414	463	1	759	Chain	ID=PRO_0000074203;Note=ARF GTPase-activating protein GIT2
Q14161	414	463	415	415	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:24275569;Dbxref=PMID:17081983,PMID:24275569
Q14161	414	463	418	418	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:17081983;Dbxref=PMID:17081983
Q14161	414	463	421	421	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:20068231;Dbxref=PMID:17081983,PMID:20068231
Q14161	464	546	450	464	Alternative sequence	ID=VSP_000307;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10896954,PMID:15489334
Q14161	464	546	465	547	Alternative sequence	ID=VSP_000308;Note=In isoform 6%2C isoform 7 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10896954,PMID:15489334
Q14161	464	546	466	471	Alternative sequence	ID=VSP_000303;Note=In isoform 2. QTLQSE->LGKDAN;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.4;Dbxref=PMID:10896954,PMID:15489334
Q14161	464	546	472	759	Alternative sequence	ID=VSP_000304;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.4;Dbxref=PMID:10896954,PMID:15489334
Q14161	464	546	1	759	Chain	ID=PRO_0000074203;Note=ARF GTPase-activating protein GIT2
Q14161	464	546	484	484	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:15592455;Dbxref=PMID:15592455
Q14161	547	576	465	547	Alternative sequence	ID=VSP_000308;Note=In isoform 6%2C isoform 7 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10896954,PMID:15489334
Q14161	547	576	472	759	Alternative sequence	ID=VSP_000304;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.4;Dbxref=PMID:10896954,PMID:15489334
Q14161	547	576	548	577	Alternative sequence	ID=VSP_000309;Note=In isoform 5%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:8590280;Dbxr
Q14161	547	576	1	759	Chain	ID=PRO_0000074203;Note=ARF GTPase-activating protein GIT2
Q14161	547	576	559	559	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q14161	547	576	562	562	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9JLQ2
Q14161	547	576	570	570	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9JLQ2
Q14161	547	576	552	552	Natural variant	ID=VAR_048325;Note=A->V;Dbxref=dbSNP:rs11068997

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
Q14161	414	463	334	414	Alternative sequence	ID=VSP_000305;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10896954;Dbxref=PMID:10896954
Q14161	414	463	414	463	Alternative sequence	ID=VSP_008654;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8590280;Dbxref=PMID:8590280
Q14161	414	463	415	449	Alternative sequence	ID=VSP_000306;Note=In isoform 4 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10896954;Dbxref=PMID:10896954
Q14161	414	463	450	464	Alternative sequence	ID=VSP_000307;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10896954,PMID:15489334
Q14161	414	463	1	759	Chain	ID=PRO_0000074203;Note=ARF GTPase-activating protein GIT2
Q14161	414	463	415	415	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:24275569;Dbxref=PMID:17081983,PMID:24275569
Q14161	414	463	418	418	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:17081983;Dbxref=PMID:17081983
Q14161	414	463	421	421	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:20068231;Dbxref=PMID:17081983,PMID:20068231
Q14161	547	576	465	547	Alternative sequence	ID=VSP_000308;Note=In isoform 6%2C isoform 7 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10896954,PMID:15489334
Q14161	547	576	472	759	Alternative sequence	ID=VSP_000304;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.4;Dbxref=PMID:10896954,PMID:15489334
Q14161	547	576	548	577	Alternative sequence	ID=VSP_000309;Note=In isoform 5%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:8590280;Dbxr
Q14161	547	576	1	759	Chain	ID=PRO_0000074203;Note=ARF GTPase-activating protein GIT2
Q14161	547	576	559	559	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q14161	547	576	562	562	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9JLQ2
Q14161	547	576	570	570	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9JLQ2
Q14161	547	576	552	552	Natural variant	ID=VAR_048325;Note=A->V;Dbxref=dbSNP:rs11068997

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
Q14161	414	463	334	414	Alternative sequence	ID=VSP_000305;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10896954;Dbxref=PMID:10896954
Q14161	414	463	414	463	Alternative sequence	ID=VSP_008654;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8590280;Dbxref=PMID:8590280
Q14161	414	463	415	449	Alternative sequence	ID=VSP_000306;Note=In isoform 4 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10896954;Dbxref=PMID:10896954
Q14161	414	463	450	464	Alternative sequence	ID=VSP_000307;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10896954,PMID:15489334
Q14161	414	463	1	759	Chain	ID=PRO_0000074203;Note=ARF GTPase-activating protein GIT2
Q14161	414	463	415	415	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:24275569;Dbxref=PMID:17081983,PMID:24275569
Q14161	414	463	418	418	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:17081983;Dbxref=PMID:17081983
Q14161	414	463	421	421	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:20068231;Dbxref=PMID:17081983,PMID:20068231
Q14161	464	546	450	464	Alternative sequence	ID=VSP_000307;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10896954,PMID:15489334
Q14161	464	546	465	547	Alternative sequence	ID=VSP_000308;Note=In isoform 6%2C isoform 7 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10896954,PMID:15489334
Q14161	464	546	466	471	Alternative sequence	ID=VSP_000303;Note=In isoform 2. QTLQSE->LGKDAN;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.4;Dbxref=PMID:10896954,PMID:15489334
Q14161	464	546	472	759	Alternative sequence	ID=VSP_000304;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.4;Dbxref=PMID:10896954,PMID:15489334
Q14161	464	546	1	759	Chain	ID=PRO_0000074203;Note=ARF GTPase-activating protein GIT2
Q14161	464	546	484	484	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:15592455;Dbxref=PMID:15592455
Q14161	547	576	465	547	Alternative sequence	ID=VSP_000308;Note=In isoform 6%2C isoform 7 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10896954,PMID:15489334
Q14161	547	576	472	759	Alternative sequence	ID=VSP_000304;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.4;Dbxref=PMID:10896954,PMID:15489334
Q14161	547	576	548	577	Alternative sequence	ID=VSP_000309;Note=In isoform 5%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 10 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10896954,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:8590280;Dbxr
Q14161	547	576	1	759	Chain	ID=PRO_0000074203;Note=ARF GTPase-activating protein GIT2
Q14161	547	576	559	559	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q14161	547	576	562	562	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9JLQ2
Q14161	547	576	570	570	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9JLQ2
Q14161	547	576	552	552	Natural variant	ID=VAR_048325;Note=A->V;Dbxref=dbSNP:rs11068997

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3'-UTR located exon skipping events that lost miRNA binding sites in GIT2

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 GIT2

- 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 GIT2

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

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GIT2

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 GIT2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TRA2A	exon_skip_181090	-4.345903e-01	3.061456e-08
CB	TARDBP	exon_skip_210504	-4.543292e-01	1.523662e-08
CB	CNOT4	exon_skip_210504	-4.013322e-01	8.135414e-07
CB	PCBP4	exon_skip_210504	4.285112e-01	1.151793e-07
CB	TRA2A	exon_skip_210504	-4.061398e-01	5.829094e-07
CB	FUBP1	exon_skip_210504	-4.701127e-01	4.062687e-09
CB	NUP42	exon_skip_210504	4.239461e-01	1.619000e-07
CB	RBM4	exon_skip_210504	-4.493747e-01	2.276015e-08
CB	PCBP4	exon_skip_36265	5.346344e-01	1.297722e-12
CB	NUP42	exon_skip_36265	4.690763e-01	1.091590e-09
CB	PABPN1	exon_skip_184794	-4.123499e-01	1.089210e-06
CB	PCBP4	exon_skip_184794	4.321967e-01	2.825778e-07
CB	TRA2A	exon_skip_184794	-4.951604e-01	2.112676e-09
CB	NUP42	exon_skip_184794	4.716075e-01	1.481919e-08
HCC	RBM3	exon_skip_181090	4.837017e-01	9.043526e-17
HCC	PCBP4	exon_skip_181090	5.183698e-01	2.027036e-19
HCC	SRSF5	exon_skip_181090	4.991844e-01	6.459365e-18
IFG	ESRP1	exon_skip_181090	-4.781204e-01	2.102045e-02
IFG	FXR2	exon_skip_36265	-4.217606e-01	2.843593e-02
TC	HNRNPH2	exon_skip_181090	-4.789542e-01	1.645181e-09
TC	ESRP1	exon_skip_181090	-4.050021e-01	5.750537e-07
TC	NOVA1	exon_skip_181090	-4.949741e-01	3.809468e-10

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RelatedDrugs for GIT2

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 GIT2

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 GIT2

Gene structures and expression levels for GIT2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GIT2

Open reading frame (ORF) annotation in the exon skipping event for GIT2

Infer the effects of exon skipping event on protein functional features for GIT2

3'-UTR located exon skipping events that lost miRNA binding sites in GIT2

SNVs in the skipped exons for GIT2

AD stage-associated exon skippint events for GIT2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GIT2

Correlation with RNA binding proteins (RBPs) for GIT2

RelatedDrugs for GIT2

RelatedDiseases for GIT2