ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for POLG

Gene summary

Gene information	Gene symbol	POLG
	Gene ID	5428
	Gene name	DNA polymerase gamma, catalytic subunit
	Synonyms	MDP1\|MIRAS\|MTDPS4A\|MTDPS4B\|PEO\|POLG1\|POLGA\|SANDO\|SCAE
	Cytomap	15q26.1
	Type of gene	protein-coding
	Description	DNA polymerase subunit gamma-1PolG-alphamitochondrial DNA polymerase catalytic subunitmitochondrial polymerase gamma catalytic subunitpolymerase (DNA directed), gammapolymerase (DNA) gamma, catalytic subunittruncated mitochondrial DNA polymerase gam
	Modification date	20200325
	UniProtAcc	A0A0D9SFM1, A0A0K2FP50, A0A0K2FPC3, A0A0K2FPC8, A0A0K2FQ02, A0A0K2FQ90, A0A1B0GTQ6, A0A1B0GTU7, A0A1B0GUT0, A0A1B0GV78, A0A1B0GV99, A0A1B0GVT8, A0A1B0GW33, A0A3B3IS91, A0A3G6VDW8, A0A3G6VDX0, A0A3G6VDX4, A0A3G6VDX6, A0A3G6VDY0, A0A590UJP1, A0A590UK63, E5KNU5, H0YCD2, H0YCV2, H0YD36, H0YDF1, H0YE43, P54098, Q2V8X9, Q2V8Y0, Q6JLA7, Q6LCA9,
	Context

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

Gene	GO ID	GO term	PubMed ID
POLG	GO:0006261	DNA-dependent DNA replication	10608893\|15167897\|19837034\|19858216\|26123486\|26446790\|28430993
POLG	GO:0006287	base-excision repair, gap-filling	15177179

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Gene structures and expression levels for POLG

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.

ENSG00000140521

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
PCC	UP	ENST00000526671.1	POLG-206:retained_intron:POLG	3.279484e+00	2.565462e+00	1.225607e-03	2.877988e-02
CB	DOWN	ENST00000672695.1	POLG-229:lncRNA:POLG	1.655832e+02	-1.440808e+00	4.856713e-15	1.938534e-12
CB	DOWN	ENST00000526671.1	POLG-206:retained_intron:POLG	6.201812e+01	-1.072261e+00	1.005124e-11	9.773949e-10

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 POLG

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_100139	chr15	89319064:89319099:89319228:89319350:89320766:89320801	89319228:89319350
exon_skip_11478	chr15	89323815:89323901:89324107:89324187:89325450:89325484	89324107:89324187
exon_skip_130783	chr15	89322742:89322902:89323404:89323511:89323815:89323901	89323404:89323511
exon_skip_130855	chr15	89322805:89322902:89323404:89323511:89323815:89323901	89323404:89323511
exon_skip_138387	chr15	89316684:89316827:89317376:89317536:89318541:89318749	89317376:89317536
exon_skip_147115	chr15	89318541:89318749:89318931:89319099:89319228:89319262	89318931:89319099
exon_skip_147464	chr15	89319292:89319350:89320766:89321260:89321736:89321853	89320766:89321260
exon_skip_188239	chr15	89317376:89317536:89317939:89317975:89318541:89318749	89317939:89317975
exon_skip_196618	chr15	89321962:89322015:89323404:89323511:89323815:89323901	89323404:89323511
exon_skip_202820	chr15	89321962:89322015:89322742:89322902:89323404:89323427	89322742:89322902
exon_skip_205834	chr15	89317376:89317536:89317939:89318037:89318541:89318624	89317939:89318037
exon_skip_211315	chr15	89317376:89317536:89317939:89318037:89318541:89318612	89317939:89318037
exon_skip_213133	chr15	89323815:89323901:89324107:89324227:89325450:89325484	89324107:89324227
exon_skip_222841	chr15	89322805:89322902:89323404:89323552:89323815:89323901	89323404:89323552
exon_skip_239065	chr15	89319292:89319350:89321962:89322015:89322742:89322902	89321962:89322015
exon_skip_240262	chr15	89317376:89317536:89317939:89318037:89318541:89318749	89317939:89318037
exon_skip_245836	chr15	89317376:89317536:89317939:89317975:89318541:89318612	89317939:89317975
exon_skip_26758	chr15	89316684:89316827:89317376:89317476:89318541:89318749	89317376:89317476
exon_skip_268539	chr15	89330208:89330276:89332218:89332374:89333096:89333144	89332218:89332374
exon_skip_277279	chr15	89322798:89322902:89323404:89323511:89323815:89323901	89323404:89323511
exon_skip_278324	chr15	89326912:89327063:89327167:89327349:89328685:89328712	89327167:89327349
exon_skip_290713	chr15	89326912:89327063:89327167:89327349:89328456:89328535	89327167:89327349
exon_skip_296714	chr15	89319292:89319350:89320766:89320869:89322742:89322902	89320766:89320869
exon_skip_49158	chr15	89322798:89322902:89323404:89323552:89323815:89323901	89323404:89323552
exon_skip_62317	chr15	89319064:89319099:89319228:89319408:89320766:89320801	89319228:89319408
exon_skip_62480	chr15	89320820:89321012:89321125:89321260:89321736:89321853	89321125:89321260
exon_skip_81997	chr15	89321962:89322015:89322742:89322902:89323404:89323511	89322742:89322902
exon_skip_91570	chr15	89322742:89322902:89323404:89323552:89323815:89323901	89323404:89323552
exon_skip_99050	chr15	89327167:89327349:89328456:89328535:89328685:89328712	89328456:89328535

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 POLG

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
ENST00000268124	89317376	89317536	Frame-shift
ENST00000442287	89317376	89317536	Frame-shift
ENST00000268124	89318931	89319099	Frame-shift
ENST00000442287	89318931	89319099	Frame-shift
ENST00000268124	89321125	89321260	Frame-shift
ENST00000442287	89321125	89321260	Frame-shift
ENST00000268124	89322742	89322902	Frame-shift
ENST00000442287	89322742	89322902	Frame-shift
ENST00000268124	89328456	89328535	Frame-shift
ENST00000442287	89328456	89328535	Frame-shift
ENST00000268124	89319228	89319350	In-frame
ENST00000442287	89319228	89319350	In-frame
ENST00000268124	89323404	89323511	In-frame
ENST00000442287	89323404	89323511	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
ENST00000268124	89321125	89321260	Frame-shift
ENST00000442287	89321125	89321260	Frame-shift
ENST00000268124	89322742	89322902	Frame-shift
ENST00000442287	89322742	89322902	Frame-shift
ENST00000268124	89328456	89328535	Frame-shift
ENST00000442287	89328456	89328535	Frame-shift

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
ENST00000268124	89317376	89317536	Frame-shift
ENST00000442287	89317376	89317536	Frame-shift
ENST00000268124	89318931	89319099	Frame-shift
ENST00000442287	89318931	89319099	Frame-shift
ENST00000268124	89321125	89321260	Frame-shift
ENST00000442287	89321125	89321260	Frame-shift
ENST00000268124	89322742	89322902	Frame-shift
ENST00000442287	89322742	89322902	Frame-shift
ENST00000268124	89324107	89324227	Frame-shift
ENST00000442287	89324107	89324227	Frame-shift
ENST00000268124	89328456	89328535	Frame-shift
ENST00000442287	89328456	89328535	Frame-shift
ENST00000268124	89319228	89319350	In-frame
ENST00000442287	89319228	89319350	In-frame
ENST00000268124	89323404	89323511	In-frame
ENST00000442287	89323404	89323511	In-frame
ENST00000268124	89327167	89327349	In-frame
ENST00000442287	89327167	89327349	In-frame

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

p-ENSG00000140521_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
ENST00000268124	4517	1239	89323404	89323511	2492	2598	719	754
ENST00000442287	4504	1239	89323404	89323511	2494	2600	719	754
ENST00000268124	4517	1239	89319228	89319350	3316	3437	994	1034
ENST00000442287	4504	1239	89319228	89319350	3318	3439	994	1034

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

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
ENST00000268124	4517	1239	89327167	89327349	1585	1766	417	477
ENST00000442287	4504	1239	89327167	89327349	1587	1768	417	477
ENST00000268124	4517	1239	89323404	89323511	2492	2598	719	754
ENST00000442287	4504	1239	89323404	89323511	2494	2600	719	754
ENST00000268124	4517	1239	89319228	89319350	3316	3437	994	1034
ENST00000442287	4504	1239	89319228	89319350	3318	3439	994	1034

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
P54098	719	754	743	745	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZTU
P54098	719	754	743	745	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZTU
P54098	719	754	1	1239	Chain	ID=PRO_0000101270;Note=DNA polymerase subunit gamma-1
P54098	719	754	1	1239	Chain	ID=PRO_0000101270;Note=DNA polymerase subunit gamma-1
P54098	719	754	716	721	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	719	754	716	721	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	719	754	737	737	Natural variant	ID=VAR_058885;Note=In PEOB1%3B with absence of progressive external ophthalmoplegia. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16634032;Dbxref=dbSNP:rs121918054,PMID:16634032
P54098	719	754	737	737	Natural variant	ID=VAR_058885;Note=In PEOB1%3B with absence of progressive external ophthalmoplegia. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16634032;Dbxref=dbSNP:rs121918054,PMID:16634032
P54098	719	754	748	748	Natural variant	ID=VAR_023673;Note=In SANDO%2C SCAE and MTDPS4A%3B unknown pathological significance. W->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15477547,ECO:0000269\|PubMed:15824347,ECO:0000269\|P
P54098	719	754	748	748	Natural variant	ID=VAR_023673;Note=In SANDO%2C SCAE and MTDPS4A%3B unknown pathological significance. W->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15477547,ECO:0000269\|PubMed:15824347,ECO:0000269\|P
P54098	719	754	738	740	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	719	754	738	740	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	992	995	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	992	995	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	997	999	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	997	999	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1010	1013	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1010	1013	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1033	1035	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1033	1035	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1	1239	Chain	ID=PRO_0000101270;Note=DNA polymerase subunit gamma-1
P54098	994	1034	1	1239	Chain	ID=PRO_0000101270;Note=DNA polymerase subunit gamma-1
P54098	994	1034	1001	1009	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1001	1009	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1027	1030	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1027	1030	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM

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

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
P54098	417	477	435	438	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZTU
P54098	417	477	435	438	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZTU
P54098	417	477	1	1239	Chain	ID=PRO_0000101270;Note=DNA polymerase subunit gamma-1
P54098	417	477	1	1239	Chain	ID=PRO_0000101270;Note=DNA polymerase subunit gamma-1
P54098	417	477	422	431	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	417	477	422	431	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	417	477	440	473	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	417	477	440	473	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	417	477	431	431	Natural variant	ID=VAR_023667;Note=In PEOB1%3B sporadic case. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12707443;Dbxref=PMID:12707443
P54098	417	477	431	431	Natural variant	ID=VAR_023667;Note=In PEOB1%3B sporadic case. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12707443;Dbxref=PMID:12707443
P54098	417	477	463	463	Natural variant	ID=VAR_058877;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17420318;Dbxref=dbSNP:rs150828914,PMID:17420318
P54098	417	477	463	463	Natural variant	ID=VAR_058877;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17420318;Dbxref=dbSNP:rs150828914,PMID:17420318
P54098	417	477	467	467	Natural variant	ID=VAR_012155;Note=In PEOB1%2C SANDO%2C SCAE and MTDPS4A%3B results in clearly decreased activity%2C DNA binding and processivity of the polymerase. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO
P54098	417	477	467	467	Natural variant	ID=VAR_012155;Note=In PEOB1%2C SANDO%2C SCAE and MTDPS4A%3B results in clearly decreased activity%2C DNA binding and processivity of the polymerase. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO
P54098	417	477	468	468	Natural variant	ID=VAR_023668;Note=In PEOB1. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15351195;Dbxref=dbSNP:rs145843073,PMID:15351195
P54098	417	477	468	468	Natural variant	ID=VAR_023668;Note=In PEOB1. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15351195;Dbxref=dbSNP:rs145843073,PMID:15351195
P54098	719	754	743	745	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZTU
P54098	719	754	743	745	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZTU
P54098	719	754	1	1239	Chain	ID=PRO_0000101270;Note=DNA polymerase subunit gamma-1
P54098	719	754	1	1239	Chain	ID=PRO_0000101270;Note=DNA polymerase subunit gamma-1
P54098	719	754	716	721	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	719	754	716	721	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	719	754	737	737	Natural variant	ID=VAR_058885;Note=In PEOB1%3B with absence of progressive external ophthalmoplegia. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16634032;Dbxref=dbSNP:rs121918054,PMID:16634032
P54098	719	754	737	737	Natural variant	ID=VAR_058885;Note=In PEOB1%3B with absence of progressive external ophthalmoplegia. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16634032;Dbxref=dbSNP:rs121918054,PMID:16634032
P54098	719	754	748	748	Natural variant	ID=VAR_023673;Note=In SANDO%2C SCAE and MTDPS4A%3B unknown pathological significance. W->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15477547,ECO:0000269\|PubMed:15824347,ECO:0000269\|P
P54098	719	754	748	748	Natural variant	ID=VAR_023673;Note=In SANDO%2C SCAE and MTDPS4A%3B unknown pathological significance. W->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15477547,ECO:0000269\|PubMed:15824347,ECO:0000269\|P
P54098	719	754	738	740	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	719	754	738	740	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	992	995	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	992	995	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	997	999	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	997	999	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1010	1013	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1010	1013	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1033	1035	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1033	1035	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1	1239	Chain	ID=PRO_0000101270;Note=DNA polymerase subunit gamma-1
P54098	994	1034	1	1239	Chain	ID=PRO_0000101270;Note=DNA polymerase subunit gamma-1
P54098	994	1034	1001	1009	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1001	1009	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1027	1030	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM
P54098	994	1034	1027	1030	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3IKM

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

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 POLG

- 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 POLG

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 POLG

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 POLG

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for POLG

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 POLG

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 POLG

Gene structures and expression levels for POLG

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

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

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

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

SNVs in the skipped exons for POLG

AD stage-associated exon skippint events for POLG

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

Correlation with RNA binding proteins (RBPs) for POLG

RelatedDrugs for POLG

RelatedDiseases for POLG