ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ORC4

Gene summary

Gene information	Gene symbol	ORC4
	Gene ID	5000
	Gene name	origin recognition complex subunit 4
	Synonyms	ORC4L\|ORC4P
	Cytomap	2q23.1
	Type of gene	protein-coding
	Description	origin recognition complex subunit 4origin recognition complex, subunit 4 homolog
	Modification date	20200313
	UniProtAcc	C9J2X8, C9JGH7, O43929, Q53SE3,
	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 ORC4

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.

ENSG00000115947

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	UP	ENST00000440042.1	ORC4-204:protein_coding:ORC4	2.297275e+01	8.777826e-01	6.412128e-07	1.027508e-05
CB	UP	ENST00000490200.5	ORC4-211:lncRNA:ORC4	2.504007e+01	1.332353e+00	5.567248e-04	3.157110e-03
CB	DOWN	ENST00000536575.5	ORC4-215:protein_coding:ORC4	1.479920e+02	-3.712047e+00	1.518378e-03	7.333206e-03
CB	UP	ENST00000483608.1	ORC4-209:retained_intron:ORC4	1.475820e+00	8.649610e-01	2.139336e-03	9.745695e-03
TC	DOWN	ENST00000536575.5	ORC4-215:protein_coding:ORC4	2.831278e+01	-4.851544e+00	1.853364e-03	1.585456e-02
TC	UP	ENST00000490200.5	ORC4-211:lncRNA:ORC4	1.746135e+01	8.790828e-01	2.960250e-03	2.256957e-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 ORC4

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_107361	chr2	147973448:147973524:147975902:147975975:148020633:148020638	147975902:147975975
exon_skip_115846	chr2	147952472:147952524:147955347:147955395:147958298:147958383	147955347:147955395
exon_skip_138381	chr2	147958303:147958383:147958791:147958866:148020633:148020723	147958791:147958866
exon_skip_169210	chr2	147943436:147943522:147948051:147948224:147952373:147952417	147948051:147948224
exon_skip_197141	chr2	147975902:147975975:147981928:147982081:148020633:148020723	147981928:147982081
exon_skip_201572	chr2	147975902:147975975:147981928:147982081:148020633:148020638	147981928:147982081
exon_skip_216448	chr2	147943436:147943522:147948051:147948224:147952373:147952513	147948051:147948224
exon_skip_242307	chr2	147975902:147975975:147981928:147982081:148020633:148020724	147981928:147982081
exon_skip_242662	chr2	147973448:147973524:147975902:147975975:148020608:148020760	147975902:147975975
exon_skip_258925	chr2	147973448:147973524:147975902:147975975:148021448:148021565	147975902:147975975
exon_skip_35103	chr2	147958303:147958383:147958791:147958866:147972739:147972829	147958791:147958866
exon_skip_64727	chr2	147930399:147935698:147938146:147938213:147938298:147938393	147938146:147938213
exon_skip_66504	chr2	147948189:147948224:147952373:147952524:147955347:147955395	147952373:147952524
exon_skip_95648	chr2	147938146:147938213:147938298:147938393:147939140:147939248	147938298:147938393
exon_skip_9615	chr2	147973448:147973524:147975902:147975975:148020633:148020723	147975902:147975975
exon_skip_96373	chr2	147958791:147958866:147972739:147972829:147973448:147973524	147972739:147972829

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_9615	Mayo_CB	6.006098e-01	7.256522e-01	-1.250424e-01	1.406962e-05

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Open reading frame (ORF) annotation in the exon skipping event for ORC4

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
ENST00000264169	147975902	147975975	3UTR-3CDS
ENST00000392857	147975902	147975975	3UTR-3CDS
ENST00000535373	147981928	147982081	3UTR-3UTR
ENST00000264169	147938146	147938213	Frame-shift
ENST00000392857	147938146	147938213	Frame-shift
ENST00000535373	147938146	147938213	Frame-shift
ENST00000264169	147952373	147952524	Frame-shift
ENST00000392857	147952373	147952524	Frame-shift
ENST00000535373	147952373	147952524	Frame-shift
ENST00000264169	147958791	147958866	Frame-shift
ENST00000392857	147958791	147958866	Frame-shift
ENST00000535373	147958791	147958866	Frame-shift
ENST00000264169	147938298	147938393	In-frame
ENST00000392857	147938298	147938393	In-frame
ENST00000535373	147938298	147938393	In-frame
ENST00000264169	147948051	147948224	In-frame
ENST00000392857	147948051	147948224	In-frame
ENST00000535373	147948051	147948224	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
ENST00000392857	147975902	147975975	3UTR-3CDS
ENST00000535373	147981928	147982081	3UTR-3UTR
ENST00000264169	147952373	147952524	Frame-shift
ENST00000392857	147952373	147952524	Frame-shift
ENST00000535373	147952373	147952524	Frame-shift
ENST00000264169	147958791	147958866	Frame-shift
ENST00000392857	147958791	147958866	Frame-shift
ENST00000535373	147958791	147958866	Frame-shift
ENST00000264169	147948051	147948224	In-frame
ENST00000392857	147948051	147948224	In-frame
ENST00000535373	147948051	147948224	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
ENST00000264169	147975902	147975975	3UTR-3CDS
ENST00000392857	147975902	147975975	3UTR-3CDS
ENST00000535373	147981928	147982081	3UTR-3UTR
ENST00000264169	147938146	147938213	Frame-shift
ENST00000392857	147938146	147938213	Frame-shift
ENST00000535373	147938146	147938213	Frame-shift
ENST00000264169	147952373	147952524	Frame-shift
ENST00000392857	147952373	147952524	Frame-shift
ENST00000535373	147952373	147952524	Frame-shift
ENST00000264169	147955347	147955395	Frame-shift
ENST00000392857	147955347	147955395	Frame-shift
ENST00000535373	147955347	147955395	Frame-shift
ENST00000264169	147958791	147958866	Frame-shift
ENST00000392857	147958791	147958866	Frame-shift
ENST00000535373	147958791	147958866	Frame-shift
ENST00000264169	147972739	147972829	Frame-shift
ENST00000392857	147972739	147972829	Frame-shift
ENST00000535373	147972739	147972829	Frame-shift
ENST00000264169	147938298	147938393	In-frame
ENST00000392857	147938298	147938393	In-frame
ENST00000535373	147938298	147938393	In-frame
ENST00000264169	147948051	147948224	In-frame
ENST00000392857	147948051	147948224	In-frame
ENST00000535373	147948051	147948224	In-frame

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Infer the effects of exon skipping event on protein functional features for ORC4

p-ENSG00000115947_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
ENST00000264169	6615	436	147948051	147948224	763	935	196	253
ENST00000392857	6547	436	147948051	147948224	697	869	196	253
ENST00000535373	6727	436	147948051	147948224	875	1047	196	253
ENST00000264169	6615	436	147938298	147938393	1133	1227	319	351
ENST00000392857	6547	436	147938298	147938393	1067	1161	319	351
ENST00000535373	6727	436	147938298	147938393	1245	1339	319	351

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
ENST00000264169	6615	436	147948051	147948224	763	935	196	253
ENST00000392857	6547	436	147948051	147948224	697	869	196	253
ENST00000535373	6727	436	147948051	147948224	875	1047	196	253

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
ENST00000264169	6615	436	147948051	147948224	763	935	196	253
ENST00000392857	6547	436	147948051	147948224	697	869	196	253
ENST00000535373	6727	436	147948051	147948224	875	1047	196	253
ENST00000264169	6615	436	147938298	147938393	1133	1227	319	351
ENST00000392857	6547	436	147938298	147938393	1067	1161	319	351
ENST00000535373	6727	436	147938298	147938393	1245	1339	319	351

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
O43929	196	253	215	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	215	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	215	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	196	253	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	196	253	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	196	253	198	201	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	198	201	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	198	201	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	204	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	204	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	204	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	223	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	223	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	223	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	245	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	245	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	245	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	319	351	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	319	351	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	319	351	313	319	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	313	319	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	313	319	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	323	338	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	323	338	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	323	338	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	346	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	346	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	346	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7

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
O43929	196	253	215	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	215	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	215	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	196	253	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	196	253	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	196	253	198	201	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	198	201	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	198	201	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	204	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	204	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	204	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	223	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	223	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	223	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	245	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	245	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	245	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7

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
O43929	196	253	215	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	215	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	215	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	196	253	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	196	253	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	196	253	198	201	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	198	201	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	198	201	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	204	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	204	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	204	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	223	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	223	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	223	234	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	245	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	245	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	196	253	245	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	319	351	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	319	351	1	436	Chain	ID=PRO_0000127087;Note=Origin recognition complex subunit 4
O43929	319	351	313	319	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	313	319	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	313	319	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	323	338	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	323	338	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	323	338	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	346	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	346	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7
O43929	319	351	346	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UJ7

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3'-UTR located exon skipping events that lost miRNA binding sites in ORC4

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
Mayo	ENST00000535373	147981928	147982081	hsa-miR-3922-5p	chr2:147981982-147981989	8mer-1a	chr2:147981979-147982002	155.00	-17.88
Mayo	ENST00000535373	147981928	147982081	hsa-miR-3173-3p	chr2:147982016-147982023	8mer-1a	chr2:147982002-147982023	160.00	-20.79
Mayo	ENST00000535373	147981928	147982081	hsa-miR-626	chr2:147981995-147982002	8mer-1a	chr2:147981979-147982002	155.00	-17.88
Mayo	ENST00000535373	147981928	147982081	hsa-miR-24-3p	chr2:147981974-147981981	8mer-1a	chr2:147981960-147981981	155.00	-21.29
Mayo	ENST00000535373	147981928	147982081	hsa-miR-519c-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
Mayo	ENST00000535373	147981928	147982081	hsa-miR-519b-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
Mayo	ENST00000535373	147981928	147982081	hsa-miR-523-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
Mayo	ENST00000535373	147981928	147982081	hsa-miR-518f-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
Mayo	ENST00000535373	147981928	147982081	hsa-miR-526a-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
Mayo	ENST00000535373	147981928	147982081	hsa-miR-520c-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
Mayo	ENST00000535373	147981928	147982081	hsa-miR-518e-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
Mayo	ENST00000535373	147981928	147982081	hsa-miR-518d-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
Mayo	ENST00000535373	147981928	147982081	hsa-miR-522-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
Mayo	ENST00000535373	147981928	147982081	hsa-miR-519a-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
Mayo	ENST00000535373	147981928	147982081	hsa-miR-6816-3p	chr2:147981965-147981972	8mer-1a	chr2:147981960-147981981	155.00	-21.29
Mayo	ENST00000535373	147981928	147982081	hsa-miR-466	chr2:147982024-147982031	8mer-1a	chr2:147982008-147982031	151.00	-11.14
Mayo	ENST00000535373	147981928	147982081	hsa-miR-12118	chr2:147982016-147982023	8mer-1a	chr2:147982002-147982023	160.00	-20.79
Mayo	ENST00000535373	147981928	147982081	hsa-miR-3143	chr2:147981955-147981962	8mer-1a	chr2:147981953-147981972	151.00	-17.30
Mayo	ENST00000535373	147981928	147982081	hsa-miR-6891-5p	chr2:147982016-147982023	8mer-1a	chr2:147982002-147982023	160.00	-20.79
Mayo	ENST00000535373	147981928	147982081	hsa-miR-6876-3p	chr2:147981995-147982002	8mer-1a	chr2:147981979-147982002	155.00	-17.88
Mayo	ENST00000535373	147981928	147982081	hsa-miR-505-5p	chr2:147982068-147982075	8mer-1a	chr2:147982053-147982075	159.00	-19.59
MSBB	ENST00000535373	147981928	147982081	hsa-miR-3922-5p	chr2:147981982-147981989	8mer-1a	chr2:147981979-147982002	155.00	-17.88
MSBB	ENST00000535373	147981928	147982081	hsa-miR-3173-3p	chr2:147982016-147982023	8mer-1a	chr2:147982002-147982023	160.00	-20.79
MSBB	ENST00000535373	147981928	147982081	hsa-miR-626	chr2:147981995-147982002	8mer-1a	chr2:147981979-147982002	155.00	-17.88
MSBB	ENST00000535373	147981928	147982081	hsa-miR-24-3p	chr2:147981974-147981981	8mer-1a	chr2:147981960-147981981	155.00	-21.29
MSBB	ENST00000535373	147981928	147982081	hsa-miR-519c-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
MSBB	ENST00000535373	147981928	147982081	hsa-miR-519b-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
MSBB	ENST00000535373	147981928	147982081	hsa-miR-523-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
MSBB	ENST00000535373	147981928	147982081	hsa-miR-518f-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
MSBB	ENST00000535373	147981928	147982081	hsa-miR-526a-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
MSBB	ENST00000535373	147981928	147982081	hsa-miR-520c-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
MSBB	ENST00000535373	147981928	147982081	hsa-miR-518e-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
MSBB	ENST00000535373	147981928	147982081	hsa-miR-518d-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
MSBB	ENST00000535373	147981928	147982081	hsa-miR-522-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
MSBB	ENST00000535373	147981928	147982081	hsa-miR-519a-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
MSBB	ENST00000535373	147981928	147982081	hsa-miR-6816-3p	chr2:147981965-147981972	8mer-1a	chr2:147981960-147981981	155.00	-21.29
MSBB	ENST00000535373	147981928	147982081	hsa-miR-466	chr2:147982024-147982031	8mer-1a	chr2:147982008-147982031	151.00	-11.14
MSBB	ENST00000535373	147981928	147982081	hsa-miR-12118	chr2:147982016-147982023	8mer-1a	chr2:147982002-147982023	160.00	-20.79
MSBB	ENST00000535373	147981928	147982081	hsa-miR-3143	chr2:147981955-147981962	8mer-1a	chr2:147981953-147981972	151.00	-17.30
MSBB	ENST00000535373	147981928	147982081	hsa-miR-6891-5p	chr2:147982016-147982023	8mer-1a	chr2:147982002-147982023	160.00	-20.79
MSBB	ENST00000535373	147981928	147982081	hsa-miR-6876-3p	chr2:147981995-147982002	8mer-1a	chr2:147981979-147982002	155.00	-17.88
MSBB	ENST00000535373	147981928	147982081	hsa-miR-505-5p	chr2:147982068-147982075	8mer-1a	chr2:147982053-147982075	159.00	-19.59
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-3922-5p	chr2:147981982-147981989	8mer-1a	chr2:147981979-147982002	155.00	-17.88
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-3173-3p	chr2:147982016-147982023	8mer-1a	chr2:147982002-147982023	160.00	-20.79
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-626	chr2:147981995-147982002	8mer-1a	chr2:147981979-147982002	155.00	-17.88
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-24-3p	chr2:147981974-147981981	8mer-1a	chr2:147981960-147981981	155.00	-21.29
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-519c-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-519b-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-523-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-518f-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-526a-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-520c-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-518e-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-518d-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-522-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-519a-5p	chr2:147981948-147981955	8mer-1a	chr2:147981931-147981955	157.00	-15.35
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-6816-3p	chr2:147981965-147981972	8mer-1a	chr2:147981960-147981981	155.00	-21.29
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-466	chr2:147982024-147982031	8mer-1a	chr2:147982008-147982031	151.00	-11.14
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-12118	chr2:147982016-147982023	8mer-1a	chr2:147982002-147982023	160.00	-20.79
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-3143	chr2:147981955-147981962	8mer-1a	chr2:147981953-147981972	151.00	-17.30
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-6891-5p	chr2:147982016-147982023	8mer-1a	chr2:147982002-147982023	160.00	-20.79
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-6876-3p	chr2:147981995-147982002	8mer-1a	chr2:147981979-147982002	155.00	-17.88
ROSMAP	ENST00000535373	147981928	147982081	hsa-miR-505-5p	chr2:147982068-147982075	8mer-1a	chr2:147982053-147982075	159.00	-19.59

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SNVs in the skipped exons for ORC4

- 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 ORC4

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 ORC4

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
CB	exon_skip_9615	rs3768686	chr2:147935207	8.429139e-09	5.418449e-06
CB	exon_skip_242662	rs3768686	chr2:147935207	6.064541e-07	2.321438e-04
CB	exon_skip_242662	rs2288190	chr2:147900020	5.808051e-05	1.121129e-02
TC	exon_skip_9615	rs3768686	chr2:147935207	2.035345e-08	1.079891e-05
TC	exon_skip_9615	rs2288190	chr2:147900020	4.053012e-04	4.991059e-02
HCC	exon_skip_9615	rs12622150	chr2:147915821	7.248623e-20	1.009483e-16
HCC	exon_skip_9615	rs1234402	chr2:148072083	9.094633e-20	1.225268e-16
HCC	exon_skip_9615	rs3768684	chr2:147946396	4.209215e-13	2.201337e-10
HCC	exon_skip_9615	rs13013887	chr2:148068211	3.060735e-11	1.175724e-08
HCC	exon_skip_9615	rs3768686	chr2:147935207	6.767094e-11	2.469352e-08
HCC	exon_skip_9615	rs2890915	chr2:148031974	1.446716e-09	4.199419e-07
HCC	exon_skip_9615	rs12053401	chr2:147999099	2.520030e-09	6.956535e-07
HCC	exon_skip_9615	rs2288190	chr2:147900020	2.592174e-09	7.139788e-07
HCC	exon_skip_9615	rs13027200	chr2:147952084	8.327069e-09	2.075287e-06
HCC	exon_skip_9615	rs17693310	chr2:147990409	2.459201e-05	2.751811e-03
HCC	exon_skip_9615	rs1234415	chr2:148034348	7.350333e-05	7.050951e-03
PCC	exon_skip_9615	rs12622150	chr2:147915821	2.045768e-10	1.872673e-07
PCC	exon_skip_9615	rs1234402	chr2:148072083	7.792471e-10	5.979014e-07
PCC	exon_skip_9615	rs3768684	chr2:147946396	4.182700e-08	2.170427e-05
PCC	exon_skip_9615	rs3768686	chr2:147935207	3.145539e-07	1.274037e-04
PCC	exon_skip_9615	rs2288190	chr2:147900020	1.760561e-04	2.701690e-02
PCC	exon_skip_9615	rs13013887	chr2:148068211	3.053532e-04	4.155432e-02
PCC	exon_skip_9615	rs17693310	chr2:147990409	3.733759e-04	4.836323e-02

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Correlation with RNA binding proteins (RBPs) for ORC4

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	NUP42	exon_skip_66504	4.675008e-01	5.208118e-10
CB	PTBP1	exon_skip_66504	-4.102881e-01	7.825585e-08
CB	TARDBP	exon_skip_35103	-4.681761e-01	9.201565e-10
CB	RC3H1	exon_skip_35103	-4.301677e-01	2.577531e-08
CB	FUBP1	exon_skip_35103	-5.667105e-01	1.842713e-14
CB	TARDBP	exon_skip_9615	-4.097258e-01	1.749488e-07
CB	FUBP1	exon_skip_9615	-4.991602e-01	6.860270e-11

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RelatedDrugs for ORC4

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 ORC4

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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