ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for MSH2

Gene summary

Gene information	Gene symbol	MSH2
	Gene ID	4436
	Gene name	mutS homolog 2
	Synonyms	COCA1\|FCC1\|HNPCC\|HNPCC1\|LCFS2\|hMSH2
	Cytomap	2p21-p16.3
	Type of gene	protein-coding
	Description	DNA mismatch repair protein Msh2DNA mismatch repair protein Msh2 transcriptmutS homolog 2, colon cancer, nonpolyposis type 1
	Modification date	20200322
	UniProtAcc	A0A2R8Y6P0, A0A2R8Y713, A0A2R8Y7S8, A0A2R8YFH0, A0A2R8YG02, A5JTU9, A5JTV2, A5JTV3, C9J809, E9PHA6, P43246, Q0ZAI9, Q0ZAJ0, Q0ZAJ1, Q0ZAJ2, Q53RU4, Q6VBB7, V9H015, V9H019, V9H023, V9H068, V9H0B2, V9H0D5,
	Context

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

Gene	GO ID	GO term	PubMed ID
MSH2	GO:0006281	DNA repair	8942985
MSH2	GO:0006298	mismatch repair	7923193\|11555625
MSH2	GO:0006301	postreplication repair	7923193
MSH2	GO:0045910	negative regulation of DNA recombination	17715146
MSH2	GO:0051096	positive regulation of helicase activity	17715146

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Gene structures and expression levels for MSH2

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.

ENSG00000095002

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

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 MSH2

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_110422	chr2	47408401:47408555:47410094:47410372:47412414:47412560	47410094:47410372
exon_skip_113554	chr2	47512303:47512420:47607392:47607581:47632802:47632885	47607392:47607581
exon_skip_156102	chr2	47478272:47478519:47480696:47480871:47482779:47483227	47480696:47480871
exon_skip_202889	chr2	47410094:47410372:47412414:47412560:47414269:47414418	47412414:47412560
exon_skip_250866	chr2	47412414:47412560:47414269:47414418:47416296:47416429	47414269:47414418
exon_skip_27395	chr2	47476509:47476571:47478272:47478519:47480696:47480871	47478272:47478519
exon_skip_61163	chr2	47463031:47463154:47466658:47466808:47470965:47471062	47466658:47466808
exon_skip_73743	chr2	47632802:47632885:47657200:47657292:47660973:47663146	47657200:47657292

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

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Open reading frame (ORF) annotation in the exon skipping event for MSH2

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
ENST00000233146	47466658	47466808	Frame-shift
ENST00000233146	47478272	47478519	Frame-shift
ENST00000233146	47480696	47480871	Frame-shift
ENST00000233146	47410094	47410372	In-frame
ENST00000233146	47414269	47414418	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
ENST00000233146	47466658	47466808	Frame-shift
ENST00000233146	47414269	47414418	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
ENST00000233146	47466658	47466808	Frame-shift
ENST00000233146	47412414	47412560	In-frame
ENST00000233146	47414269	47414418	In-frame

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Infer the effects of exon skipping event on protein functional features for MSH2

p-ENSG00000095002_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
ENST00000233146	3324	934	47410094	47410372	591	868	122	215
ENST00000233146	3324	934	47414269	47414418	1017	1165	264	314

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
ENST00000233146	3324	934	47414269	47414418	1017	1165	264	314

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
ENST00000233146	3324	934	47412414	47412560	870	1015	215	264
ENST00000233146	3324	934	47414269	47414418	1017	1165	264	314

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
P43246	122	215	117	124	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	122	215	147	152	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	122	215	155	158	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	122	215	160	167	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	122	215	172	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	122	215	197	204	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	122	215	2	934	Chain	ID=PRO_0000115183;Note=DNA mismatch repair protein Msh2
P43246	122	215	129	131	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2O8B
P43246	122	215	132	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	122	215	185	194	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	122	215	208	220	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	122	215	127	127	Natural variant	ID=VAR_019234;Note=In HNPCC1%3B presumed to enhance cancer risk considerably when associated with P-328%3B shows significantly decreased repair efficiency when associated with variant P-328. N->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:00002
P43246	122	215	139	139	Natural variant	ID=VAR_004472;Note=In HNPCC1. N->S
P43246	122	215	145	145	Natural variant	ID=VAR_004473;Note=In HNPCC1%3B unknown pathological significance%3B normal mismatch repair activity. I->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16451135,ECO:0000269\|PubMed:21120944,ECO:0000269\|PubMed:22581703;Dbxre
P43246	122	215	161	161	Natural variant	ID=VAR_012936;Note=In HNPCC1%3B decreased mismatch repair activity%3B affects protein stability%3B loss of protein expression. V->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11726306,ECO:0000269\|PubMed:17101
P43246	122	215	162	162	Natural variant	ID=VAR_054512;Note=In HNPCC1. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17128465;Dbxref=dbSNP:rs63750773,PMID:17128465
P43246	122	215	162	162	Natural variant	ID=VAR_043747;Note=In HNPCC1%3B decreased mismatch repair activity%3B associated with an abnormal subcellular localization pattern%3B affects protein stability%3B loss of protein expression. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:00002
P43246	122	215	163	163	Natural variant	ID=VAR_043748;Note=In HNPCC1. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12200596;Dbxref=dbSNP:rs63750214,PMID:12200596
P43246	122	215	163	163	Natural variant	ID=VAR_022670;Note=In HNPCC1. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14635101;Dbxref=dbSNP:rs63750214,PMID:14635101
P43246	122	215	164	164	Natural variant	ID=VAR_043749;Note=In HNPCC1%3B decreased mismatch repair activity%3B affects protein stability%3B loss of protein expression. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17101317,ECO:0000269\|PubMed:18951462,ECO:0000
P43246	122	215	165	165	Natural variant	ID=VAR_067284;Note=In HNPCC1%3B unknown pathological significance%3B decreased mismatch repair activity. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22102614;Dbxref=dbSNP:rs587779163,PMID:22102614
P43246	122	215	167	167	Natural variant	ID=VAR_004474;Note=In HNPCC1%3B shows reduced mismatch binding%3B does not show a decreased expression level of the MutS alpha complex%3B not associated with an abnormal subcellular localization pattern%3B normal mismatch repair activity. D->H;Ontology_te
P43246	122	215	169	169	Natural variant	ID=VAR_043750;Note=In HNPCC1 and CRC%3B unknown pathological significance. I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12792735,ECO:0000269\|PubMed:15996210;Dbxref=dbSNP:rs63750716,PMID:12792735,PMID:15996210
P43246	122	215	173	173	Natural variant	ID=VAR_043751;Note=In HNPCC1%3B decreased mismatch repair activity%3B affects protein stability%3B loss of protein expression. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17101317,ECO:0000269\|PubMed:18951462,ECO:0000
P43246	122	215	175	175	Natural variant	ID=VAR_043752;Note=In HNPCC1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12655568;Dbxref=dbSNP:rs63751291,PMID:12655568
P43246	122	215	177	177	Natural variant	ID=VAR_067285;Note=In HNPCC1%3B requires 2 nucleotide substitutions%3B unknown pathological significance%3B normal mismatch repair activity. E->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22102614;Dbxref=PMID:22102614
P43246	122	215	187	187	Natural variant	ID=VAR_043753;Note=In HNPCC1%3B decreased mismatch repair activity%3B affects protein stability%3B loss of protein expression. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17101317,ECO:0000269\|PubMed:18951462,ECO:0000
P43246	122	215	187	187	Natural variant	ID=VAR_076352;Note=In HNPCC1%3B decreased mismatch repair activity%3B loss of protein expression. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21120944;Dbxref=dbSNP:rs63751444,PMID:21120944
P43246	122	215	198	198	Natural variant	ID=VAR_054513;Note=In HNPCC1. E->G;Dbxref=dbSNP:rs63750327
P43246	122	215	199	199	Natural variant	ID=VAR_012937;Note=In glioma%3B also associated with HNPCC1%3B no effect on MSH2 splicing. C->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18561205,ECO:0000269\|PubMed:9777949;Dbxref=dbSNP:rs63751110,PMID:18561205,PMID:9777949
P43246	122	215	203	203	Natural variant	ID=VAR_043754;Note=In CRC%3B unknown pathological significance%3B somatic mutation. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12792735;Dbxref=dbSNP:rs587779973,PMID:12792735
P43246	122	215	205	205	Natural variant	ID=VAR_068705;Note=Shows no defects%3B normal mismatch repair activity. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22581703;Dbxref=dbSNP:rs63749984,PMID:22581703
P43246	122	215	168	171	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	2	934	Chain	ID=PRO_0000115183;Note=DNA mismatch repair protein Msh2
P43246	264	314	264	277	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	279	281	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	283	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	296	298	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	304	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	265	314	Natural variant	ID=VAR_004475;Note=In HNPCC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718327;Dbxref=PMID:9718327
P43246	264	314	272	272	Natural variant	ID=VAR_043756;Note=In HNPCC1%3B unknown pathological significance%3B shows slightly reduced mismatch binding or release efficiency%3B results in partial MSH2 exon 5 skipping%3B normal mismatch repair activity. A->V;Ontology_term=ECO:0000269,ECO:0000269,EC
P43246	264	314	283	283	Natural variant	ID=VAR_043757;Note=In HNPCC1. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15870828;Dbxref=dbSNP:rs63750381,PMID:15870828
P43246	264	314	305	305	Natural variant	ID=VAR_004476;Note=In HNPCC1%3B normal mismatch repair activity. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:22102614,ECO:0000269\|PubMed:9311737;Dbxref=dbSNP:rs63751454,PMID:22102614,PMID:9311737

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
P43246	264	314	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	2	934	Chain	ID=PRO_0000115183;Note=DNA mismatch repair protein Msh2
P43246	264	314	264	277	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	279	281	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	283	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	296	298	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	304	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	265	314	Natural variant	ID=VAR_004475;Note=In HNPCC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718327;Dbxref=PMID:9718327
P43246	264	314	272	272	Natural variant	ID=VAR_043756;Note=In HNPCC1%3B unknown pathological significance%3B shows slightly reduced mismatch binding or release efficiency%3B results in partial MSH2 exon 5 skipping%3B normal mismatch repair activity. A->V;Ontology_term=ECO:0000269,ECO:0000269,EC
P43246	264	314	283	283	Natural variant	ID=VAR_043757;Note=In HNPCC1. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15870828;Dbxref=dbSNP:rs63750381,PMID:15870828
P43246	264	314	305	305	Natural variant	ID=VAR_004476;Note=In HNPCC1%3B normal mismatch repair activity. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:22102614,ECO:0000269\|PubMed:9311737;Dbxref=dbSNP:rs63751454,PMID:22102614,PMID:9311737

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
P43246	215	264	223	227	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	215	264	2	934	Chain	ID=PRO_0000115183;Note=DNA mismatch repair protein Msh2
P43246	215	264	208	220	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	215	264	229	232	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	215	264	237	244	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	215	264	255	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	215	264	259	262	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	215	264	264	277	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	215	264	216	216	Natural variant	ID=VAR_012938;Note=In HNPCC1%3B unknown pathological significance%3B shows slightly reduced mismatch binding or release efficiency. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11726306;Dbxref=dbSNP:rs63749936,PMID:11726306
P43246	215	264	246	246	Natural variant	ID=VAR_043755;Note=In HNPCC1%3B unknown pathological significance. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10573010;Dbxref=dbSNP:rs63750881,PMID:10573010
P43246	215	264	252	254	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2O8E
P43246	264	314	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	2	934	Chain	ID=PRO_0000115183;Note=DNA mismatch repair protein Msh2
P43246	264	314	264	277	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	279	281	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	283	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	296	298	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	304	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3THX
P43246	264	314	265	314	Natural variant	ID=VAR_004475;Note=In HNPCC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718327;Dbxref=PMID:9718327
P43246	264	314	272	272	Natural variant	ID=VAR_043756;Note=In HNPCC1%3B unknown pathological significance%3B shows slightly reduced mismatch binding or release efficiency%3B results in partial MSH2 exon 5 skipping%3B normal mismatch repair activity. A->V;Ontology_term=ECO:0000269,ECO:0000269,EC
P43246	264	314	283	283	Natural variant	ID=VAR_043757;Note=In HNPCC1. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15870828;Dbxref=dbSNP:rs63750381,PMID:15870828
P43246	264	314	305	305	Natural variant	ID=VAR_004476;Note=In HNPCC1%3B normal mismatch repair activity. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:22102614,ECO:0000269\|PubMed:9311737;Dbxref=dbSNP:rs63751454,PMID:22102614,PMID:9311737

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3'-UTR located exon skipping events that lost miRNA binding sites in MSH2

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 MSH2

- 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 MSH2

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 MSH2

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 MSH2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
IFG	MSI1	exon_skip_250866	4.391260e-01	1.939388e-02
IFG	RC3H1	exon_skip_250866	4.255598e-01	2.396166e-02
IFG	RALYL	exon_skip_250866	5.086639e-01	5.708930e-03
IFG	RBM41	exon_skip_250866	4.972982e-01	7.093296e-03
IFG	NOVA1	exon_skip_250866	4.641078e-01	1.285229e-02

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RelatedDrugs for MSH2

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 MSH2

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 MSH2

Gene structures and expression levels for MSH2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MSH2

Open reading frame (ORF) annotation in the exon skipping event for MSH2

Infer the effects of exon skipping event on protein functional features for MSH2

3'-UTR located exon skipping events that lost miRNA binding sites in MSH2

SNVs in the skipped exons for MSH2

AD stage-associated exon skippint events for MSH2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MSH2

Correlation with RNA binding proteins (RBPs) for MSH2

RelatedDrugs for MSH2

RelatedDiseases for MSH2