ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PIGN

Gene summary

Gene information	Gene symbol	PIGN
	Gene ID	23556
	Gene name	phosphatidylinositol glycan anchor biosynthesis class N
	Synonyms	MCAHS\|MCAHS1\|MCD4\|MDC4\|PIG-N
	Cytomap	18q21.33
	Type of gene	protein-coding
	Description	GPI ethanolamine phosphate transferase 1MCD4 homologphosphatidylinositol-glycan biosynthesis class N protein
	Modification date	20200313
	UniProtAcc	A0A024R2C3, A0A1W2PNH8, A0A1W2PNQ8, A0A1W2PNR0, A0A1W2PNW5, A0A1W2PPA0, A0A1W2PPB6, A0A1W2PPK6, A0A1W2PPR7, A0A1W2PQ49, A0A1W2PQA9, A0A1W2PQP4, A0A1W2PQR8, A0A1W2PQZ1, A0A1W2PR74, A0A1W2PRH3, A0A1W2PS19, K7EID9, K7EJM6, K7EL34, K7ELE1, K7EMD7, K7ENK2, K7EPJ2, K7EQG0, K7ERX5, K7ESH9, O95427,
	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 PIGN

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.

ENSG00000197563

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	ENST00000638591.1	PIGN-226:protein_coding:PIGN	5.565618e+00	-1.445850e+00	1.054501e-07	2.221288e-06
CB	UP	ENST00000638977.1	PIGN-230:protein_coding:PIGN	1.275708e+02	1.087291e+00	3.051500e-04	1.899543e-03
CB	DOWN	ENST00000638167.1	PIGN-220:protein_coding:PIGN	3.614368e+01	-1.318962e+00	1.088253e-02	3.725190e-02
TC	DOWN	ENST00000639491.1	PIGN-235:retained_intron:PIGN	1.957306e+01	-1.070354e+00	2.358667e-05	5.091789e-04
TC	UP	ENST00000638977.1	PIGN-230:protein_coding:PIGN	7.751873e+01	1.192680e+00	1.936022e-03	1.637731e-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 PIGN

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_100284	chr18	62162253:62162329:62163531:62163656:62187023:62187049	62163531:62163656
exon_skip_105115	chr18	62138983:62139075:62140420:62140479:62143306:62143346	62140420:62140479
exon_skip_114019	chr18	62109834:62109973:62113134:62113316:62114561:62114626	62113134:62113316
exon_skip_114159	chr18	62148214:62148338:62154545:62154651:62157129:62157227	62154545:62154651
exon_skip_117407	chr18	62161352:62161385:62162253:62162329:62186844:62186975	62162253:62162329
exon_skip_128780	chr18	62161133:62161385:62163531:62163656:62187023:62187077	62163531:62163656
exon_skip_131417	chr18	62138983:62139075:62143306:62143346:62145909:62146025	62143306:62143346
exon_skip_1527	chr18	62045665:62045979:62070390:62070506:62072673:62072725	62070390:62070506
exon_skip_171968	chr18	62044634:62045979:62070390:62070506:62072673:62072725	62070390:62070506
exon_skip_174798	chr18	62088756:62088842:62090476:62090578:62095848:62095903	62090476:62090578
exon_skip_178365	chr18	62161352:62161385:62163531:62163656:62186844:62186975	62163531:62163656
exon_skip_193572	chr18	62113134:62113316:62114561:62114639:62138243:62138298	62114561:62114639
exon_skip_202229	chr18	62146996:62147101:62148214:62148338:62154545:62154556	62148214:62148338
exon_skip_213388	chr18	62146996:62147101:62148214:62148253:62154545:62154556	62148214:62148253
exon_skip_216099	chr18	62109834:62109973:62114561:62114639:62138243:62138298	62114561:62114639
exon_skip_218214	chr18	62088756:62088842:62090476:62090578:62095848:62095950	62090476:62090578
exon_skip_228808	chr18	62161352:62161385:62162253:62162329:62187023:62187049	62162253:62162329
exon_skip_233864	chr18	62106986:62107085:62107468:62107586:62109834:62109957	62107468:62107586
exon_skip_282483	chr18	62161352:62161385:62162253:62162329:62163531:62163656	62162253:62162329
exon_skip_28828	chr18	62056722:62056844:62058816:62059020:62072673:62072725	62058816:62059020
exon_skip_38527	chr18	62106986:62107085:62107468:62107586:62109834:62110150	62107468:62107586
exon_skip_4800	chr18	62161352:62161385:62163531:62163656:62187023:62187049	62163531:62163656
exon_skip_58909	chr18	62072673:62072725:62074779:62074821:62082673:62082706	62074779:62074821
exon_skip_84120	chr18	62102811:62102902:62105543:62105634:62106789:62106881	62105543:62105634
exon_skip_85192	chr18	62056722:62056844:62059048:62059168:62072673:62072725	62059048:62059168
exon_skip_9329	chr18	62162253:62162329:62163531:62163656:62186844:62186975	62163531:62163656
exon_skip_9641	chr18	62148214:62148253:62154545:62154651:62157129:62157227	62154545:62154651

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 PIGN

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
ENST00000357637	62162253	62162329	3UTR-3UTR
ENST00000640252	62162253	62162329	3UTR-3UTR
ENST00000400334	62163531	62163656	3UTR-3UTR
ENST00000638936	62163531	62163656	3UTR-3UTR
ENST00000640252	62163531	62163656	3UTR-3UTR
ENST00000357637	62090476	62090578	Frame-shift
ENST00000400334	62090476	62090578	Frame-shift
ENST00000638936	62090476	62090578	Frame-shift
ENST00000640050	62090476	62090578	Frame-shift
ENST00000640145	62090476	62090578	Frame-shift
ENST00000640252	62090476	62090578	Frame-shift
ENST00000640876	62090476	62090578	Frame-shift
ENST00000357637	62154545	62154651	Frame-shift
ENST00000400334	62154545	62154651	Frame-shift
ENST00000638936	62154545	62154651	Frame-shift
ENST00000640050	62154545	62154651	Frame-shift
ENST00000640145	62154545	62154651	Frame-shift
ENST00000640252	62154545	62154651	Frame-shift
ENST00000640876	62154545	62154651	Frame-shift
ENST00000357637	62140420	62140479	In-frame
ENST00000400334	62140420	62140479	In-frame
ENST00000638936	62140420	62140479	In-frame
ENST00000640050	62140420	62140479	In-frame
ENST00000640145	62140420	62140479	In-frame
ENST00000640252	62140420	62140479	In-frame
ENST00000640876	62140420	62140479	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
ENST00000357637	62162253	62162329	3UTR-3UTR
ENST00000640252	62162253	62162329	3UTR-3UTR
ENST00000400334	62163531	62163656	3UTR-3UTR
ENST00000638936	62163531	62163656	3UTR-3UTR
ENST00000640252	62163531	62163656	3UTR-3UTR
ENST00000357637	62090476	62090578	Frame-shift
ENST00000400334	62090476	62090578	Frame-shift
ENST00000638936	62090476	62090578	Frame-shift
ENST00000640050	62090476	62090578	Frame-shift
ENST00000640145	62090476	62090578	Frame-shift
ENST00000640252	62090476	62090578	Frame-shift
ENST00000640876	62090476	62090578	Frame-shift
ENST00000357637	62154545	62154651	Frame-shift
ENST00000400334	62154545	62154651	Frame-shift
ENST00000638936	62154545	62154651	Frame-shift
ENST00000640050	62154545	62154651	Frame-shift
ENST00000640145	62154545	62154651	Frame-shift
ENST00000640252	62154545	62154651	Frame-shift
ENST00000640876	62154545	62154651	Frame-shift
ENST00000357637	62140420	62140479	In-frame
ENST00000400334	62140420	62140479	In-frame
ENST00000638936	62140420	62140479	In-frame
ENST00000640050	62140420	62140479	In-frame
ENST00000640145	62140420	62140479	In-frame
ENST00000640252	62140420	62140479	In-frame
ENST00000640876	62140420	62140479	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
ENST00000357637	62162253	62162329	3UTR-3UTR
ENST00000640252	62162253	62162329	3UTR-3UTR
ENST00000400334	62163531	62163656	3UTR-3UTR
ENST00000638936	62163531	62163656	3UTR-3UTR
ENST00000640252	62163531	62163656	3UTR-3UTR
ENST00000357637	62074779	62074821	Frame-shift
ENST00000400334	62074779	62074821	Frame-shift
ENST00000638936	62074779	62074821	Frame-shift
ENST00000640050	62074779	62074821	Frame-shift
ENST00000640145	62074779	62074821	Frame-shift
ENST00000640252	62074779	62074821	Frame-shift
ENST00000640876	62074779	62074821	Frame-shift
ENST00000357637	62090476	62090578	Frame-shift
ENST00000400334	62090476	62090578	Frame-shift
ENST00000638936	62090476	62090578	Frame-shift
ENST00000640050	62090476	62090578	Frame-shift
ENST00000640145	62090476	62090578	Frame-shift
ENST00000640252	62090476	62090578	Frame-shift
ENST00000640876	62090476	62090578	Frame-shift
ENST00000357637	62105543	62105634	Frame-shift
ENST00000400334	62105543	62105634	Frame-shift
ENST00000638936	62105543	62105634	Frame-shift
ENST00000640050	62105543	62105634	Frame-shift
ENST00000640145	62105543	62105634	Frame-shift
ENST00000640252	62105543	62105634	Frame-shift
ENST00000640876	62105543	62105634	Frame-shift
ENST00000357637	62114561	62114639	Frame-shift
ENST00000400334	62114561	62114639	Frame-shift
ENST00000638936	62114561	62114639	Frame-shift
ENST00000640050	62114561	62114639	Frame-shift
ENST00000640145	62114561	62114639	Frame-shift
ENST00000640252	62114561	62114639	Frame-shift
ENST00000640876	62114561	62114639	Frame-shift
ENST00000357637	62148214	62148338	Frame-shift
ENST00000400334	62148214	62148338	Frame-shift
ENST00000638936	62148214	62148338	Frame-shift
ENST00000640050	62148214	62148338	Frame-shift
ENST00000640145	62148214	62148338	Frame-shift
ENST00000640252	62148214	62148338	Frame-shift
ENST00000640876	62148214	62148338	Frame-shift
ENST00000357637	62113134	62113316	In-frame
ENST00000400334	62113134	62113316	In-frame
ENST00000638936	62113134	62113316	In-frame
ENST00000640050	62113134	62113316	In-frame
ENST00000640145	62113134	62113316	In-frame
ENST00000640252	62113134	62113316	In-frame
ENST00000640876	62113134	62113316	In-frame
ENST00000357637	62140420	62140479	In-frame
ENST00000400334	62140420	62140479	In-frame
ENST00000638936	62140420	62140479	In-frame
ENST00000640050	62140420	62140479	In-frame
ENST00000640145	62140420	62140479	In-frame
ENST00000640252	62140420	62140479	In-frame
ENST00000640876	62140420	62140479	In-frame

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

p-ENSG00000197563_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
ENST00000357637	4740	931	62140420	62140479	1268	1326	321	340
ENST00000400334	4473	931	62140420	62140479	1317	1375	321	340
ENST00000638936	4250	931	62140420	62140479	1179	1237	321	340
ENST00000640050	3171	931	62140420	62140479	1147	1205	321	340
ENST00000640145	4522	931	62140420	62140479	1051	1109	321	340
ENST00000640252	7941	931	62140420	62140479	1400	1458	321	340
ENST00000640876	6062	931	62140420	62140479	1209	1267	321	340

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
ENST00000357637	4740	931	62140420	62140479	1268	1326	321	340
ENST00000400334	4473	931	62140420	62140479	1317	1375	321	340
ENST00000638936	4250	931	62140420	62140479	1179	1237	321	340
ENST00000640050	3171	931	62140420	62140479	1147	1205	321	340
ENST00000640145	4522	931	62140420	62140479	1051	1109	321	340
ENST00000640252	7941	931	62140420	62140479	1400	1458	321	340
ENST00000640876	6062	931	62140420	62140479	1209	1267	321	340

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
ENST00000357637	4740	931	62140420	62140479	1268	1326	321	340
ENST00000400334	4473	931	62140420	62140479	1317	1375	321	340
ENST00000638936	4250	931	62140420	62140479	1179	1237	321	340
ENST00000640050	3171	931	62140420	62140479	1147	1205	321	340
ENST00000640145	4522	931	62140420	62140479	1051	1109	321	340
ENST00000640252	7941	931	62140420	62140479	1400	1458	321	340
ENST00000640876	6062	931	62140420	62140479	1209	1267	321	340
ENST00000357637	4740	931	62113134	62113316	1556	1737	417	477
ENST00000400334	4473	931	62113134	62113316	1605	1786	417	477
ENST00000638936	4250	931	62113134	62113316	1467	1648	417	477
ENST00000640050	3171	931	62113134	62113316	1435	1616	417	477
ENST00000640145	4522	931	62113134	62113316	1339	1520	417	477
ENST00000640252	7941	931	62113134	62113316	1688	1869	417	477
ENST00000640876	6062	931	62113134	62113316	1497	1678	417	477

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
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	321	340	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	417	477	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	417	477	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	417	477	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	417	477	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	417	477	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	417	477	1	931	Chain	ID=PRO_0000246198;Note=GPI ethanolamine phosphate transferase 1
O95427	417	477	469	469	Natural variant	ID=VAR_053575;Note=L->F;Dbxref=dbSNP:rs3862712
O95427	417	477	469	469	Natural variant	ID=VAR_053575;Note=L->F;Dbxref=dbSNP:rs3862712
O95427	417	477	469	469	Natural variant	ID=VAR_053575;Note=L->F;Dbxref=dbSNP:rs3862712
O95427	417	477	469	469	Natural variant	ID=VAR_053575;Note=L->F;Dbxref=dbSNP:rs3862712
O95427	417	477	469	469	Natural variant	ID=VAR_053575;Note=L->F;Dbxref=dbSNP:rs3862712
O95427	417	477	469	469	Natural variant	ID=VAR_053575;Note=L->F;Dbxref=dbSNP:rs3862712
O95427	417	477	469	469	Natural variant	ID=VAR_053575;Note=L->F;Dbxref=dbSNP:rs3862712
O95427	417	477	470	470	Natural variant	ID=VAR_053576;Note=I->L;Dbxref=dbSNP:rs3862712
O95427	417	477	470	470	Natural variant	ID=VAR_053576;Note=I->L;Dbxref=dbSNP:rs3862712
O95427	417	477	470	470	Natural variant	ID=VAR_053576;Note=I->L;Dbxref=dbSNP:rs3862712
O95427	417	477	470	470	Natural variant	ID=VAR_053576;Note=I->L;Dbxref=dbSNP:rs3862712
O95427	417	477	470	470	Natural variant	ID=VAR_053576;Note=I->L;Dbxref=dbSNP:rs3862712
O95427	417	477	470	470	Natural variant	ID=VAR_053576;Note=I->L;Dbxref=dbSNP:rs3862712
O95427	417	477	470	470	Natural variant	ID=VAR_053576;Note=I->L;Dbxref=dbSNP:rs3862712
O95427	417	477	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	25	442	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	464	482	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	464	482	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	464	482	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	464	482	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	464	482	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	464	482	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	464	482	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	443	463	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	443	463	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	443	463	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	443	463	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	443	463	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	443	463	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95427	417	477	443	463	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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

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	ENST00000640252	62162253	62162329	hsa-miR-603	chr18:62162300-62162307	8mer-1a	chr18:62162280-62162307	146.00	-16.63
Mayo	ENST00000640252	62162253	62162329	hsa-miR-3941	chr18:62162301-62162308	8mer-1a	chr18:62162287-62162308	141.00	-13.25
Mayo	ENST00000640252	62163531	62163656	hsa-miR-19a-3p	chr18:62163627-62163634	8mer-1a	chr18:62163621-62163641	160.00	-21.09
Mayo	ENST00000640252	62163531	62163656	hsa-miR-19b-3p	chr18:62163627-62163634	8mer-1a	chr18:62163621-62163641	160.00	-21.09
Mayo	ENST00000640252	62163531	62163656	hsa-miR-1910-5p	chr18:62163634-62163641	8mer-1a	chr18:62163621-62163641	160.00	-21.09
Mayo	ENST00000640252	62163531	62163656	hsa-miR-6088	chr18:62163618-62163625	8mer-1a	chr18:62163609-62163625	158.00	-23.53
Mayo	ENST00000640252	62163531	62163656	hsa-miR-4264	chr18:62163636-62163643	8mer-1a	chr18:62163627-62163643	151.00	-13.21
Mayo	ENST00000640252	62163531	62163656	hsa-miR-1914-5p	chr18:62163630-62163637	8mer-1a	chr18:62163621-62163641	160.00	-21.09
Mayo	ENST00000640252	62163531	62163656	hsa-miR-143-3p	chr18:62163618-62163625	8mer-1a	chr18:62163609-62163625	158.00	-23.53
Mayo	ENST00000640252	62163531	62163656	hsa-miR-12131	chr18:62163601-62163608	8mer-1a	chr18:62163591-62163617	160.00	-23.36
Mayo	ENST00000640252	62163531	62163656	hsa-miR-4770	chr18:62163618-62163625	8mer-1a	chr18:62163609-62163625	158.00	-23.53
Mayo	ENST00000640252	62162253	62162329	hsa-miR-1468-5p	chr18:62162271-62162278	8mer-1a	chr18:62162263-62162284	156.00	-14.17
Mayo	ENST00000640252	62162253	62162329	hsa-miR-3978	chr18:62162289-62162296	8mer-1a	chr18:62162275-62162296	155.00	-17.13
MSBB	ENST00000640252	62162253	62162329	hsa-miR-603	chr18:62162300-62162307	8mer-1a	chr18:62162280-62162307	146.00	-16.63
MSBB	ENST00000640252	62162253	62162329	hsa-miR-3941	chr18:62162301-62162308	8mer-1a	chr18:62162287-62162308	141.00	-13.25
MSBB	ENST00000640252	62163531	62163656	hsa-miR-19a-3p	chr18:62163627-62163634	8mer-1a	chr18:62163621-62163641	160.00	-21.09
MSBB	ENST00000640252	62163531	62163656	hsa-miR-19b-3p	chr18:62163627-62163634	8mer-1a	chr18:62163621-62163641	160.00	-21.09
MSBB	ENST00000640252	62163531	62163656	hsa-miR-1910-5p	chr18:62163634-62163641	8mer-1a	chr18:62163621-62163641	160.00	-21.09
MSBB	ENST00000640252	62163531	62163656	hsa-miR-6088	chr18:62163618-62163625	8mer-1a	chr18:62163609-62163625	158.00	-23.53
MSBB	ENST00000640252	62163531	62163656	hsa-miR-4264	chr18:62163636-62163643	8mer-1a	chr18:62163627-62163643	151.00	-13.21
MSBB	ENST00000640252	62163531	62163656	hsa-miR-1914-5p	chr18:62163630-62163637	8mer-1a	chr18:62163621-62163641	160.00	-21.09
MSBB	ENST00000640252	62163531	62163656	hsa-miR-143-3p	chr18:62163618-62163625	8mer-1a	chr18:62163609-62163625	158.00	-23.53
MSBB	ENST00000640252	62163531	62163656	hsa-miR-12131	chr18:62163601-62163608	8mer-1a	chr18:62163591-62163617	160.00	-23.36
MSBB	ENST00000640252	62163531	62163656	hsa-miR-4770	chr18:62163618-62163625	8mer-1a	chr18:62163609-62163625	158.00	-23.53
MSBB	ENST00000640252	62162253	62162329	hsa-miR-1468-5p	chr18:62162271-62162278	8mer-1a	chr18:62162263-62162284	156.00	-14.17
MSBB	ENST00000640252	62162253	62162329	hsa-miR-3978	chr18:62162289-62162296	8mer-1a	chr18:62162275-62162296	155.00	-17.13
ROSMAP	ENST00000640252	62162253	62162329	hsa-miR-603	chr18:62162300-62162307	8mer-1a	chr18:62162280-62162307	146.00	-16.63
ROSMAP	ENST00000640252	62162253	62162329	hsa-miR-3941	chr18:62162301-62162308	8mer-1a	chr18:62162287-62162308	141.00	-13.25
ROSMAP	ENST00000640252	62163531	62163656	hsa-miR-19a-3p	chr18:62163627-62163634	8mer-1a	chr18:62163621-62163641	160.00	-21.09
ROSMAP	ENST00000640252	62163531	62163656	hsa-miR-19b-3p	chr18:62163627-62163634	8mer-1a	chr18:62163621-62163641	160.00	-21.09
ROSMAP	ENST00000640252	62163531	62163656	hsa-miR-1910-5p	chr18:62163634-62163641	8mer-1a	chr18:62163621-62163641	160.00	-21.09
ROSMAP	ENST00000640252	62163531	62163656	hsa-miR-6088	chr18:62163618-62163625	8mer-1a	chr18:62163609-62163625	158.00	-23.53
ROSMAP	ENST00000640252	62163531	62163656	hsa-miR-4264	chr18:62163636-62163643	8mer-1a	chr18:62163627-62163643	151.00	-13.21
ROSMAP	ENST00000640252	62163531	62163656	hsa-miR-1914-5p	chr18:62163630-62163637	8mer-1a	chr18:62163621-62163641	160.00	-21.09
ROSMAP	ENST00000640252	62163531	62163656	hsa-miR-143-3p	chr18:62163618-62163625	8mer-1a	chr18:62163609-62163625	158.00	-23.53
ROSMAP	ENST00000640252	62163531	62163656	hsa-miR-12131	chr18:62163601-62163608	8mer-1a	chr18:62163591-62163617	160.00	-23.36
ROSMAP	ENST00000640252	62163531	62163656	hsa-miR-4770	chr18:62163618-62163625	8mer-1a	chr18:62163609-62163625	158.00	-23.53
ROSMAP	ENST00000640252	62162253	62162329	hsa-miR-1468-5p	chr18:62162271-62162278	8mer-1a	chr18:62162263-62162284	156.00	-14.17
ROSMAP	ENST00000640252	62162253	62162329	hsa-miR-3978	chr18:62162289-62162296	8mer-1a	chr18:62162275-62162296	155.00	-17.13

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SNVs in the skipped exons for PIGN

- 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 PIGN

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 PIGN

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
HCC	exon_skip_105115	rs3829634	chr18:62043094	2.122886e-04	1.700866e-02
HCC	exon_skip_105115	rs1030583	chr18:62068450	2.122886e-04	1.700866e-02
HCC	exon_skip_105115	rs9965630	chr18:62065041	2.399998e-04	1.886309e-02
HCC	exon_skip_105115	rs12604216	chr18:62092101	3.483893e-04	2.545083e-02
HCC	exon_skip_105115	rs1431580	chr18:62110153	3.483893e-04	2.545083e-02
HCC	exon_skip_105115	rs4991213	chr18:62061350	3.608058e-04	2.614727e-02
HCC	exon_skip_105115	rs4940549	chr18:62180436	3.735740e-04	2.691521e-02
PCC	exon_skip_105115	rs3829634	chr18:62043094	2.317147e-05	5.246463e-03
PCC	exon_skip_105115	rs9965630	chr18:62065041	2.317147e-05	5.246463e-03
PCC	exon_skip_105115	rs1030583	chr18:62068450	2.317147e-05	5.246463e-03
PCC	exon_skip_105115	rs4991213	chr18:62061350	3.030495e-05	6.528279e-03
PCC	exon_skip_105115	rs12604216	chr18:62092101	5.210805e-05	1.025462e-02
PCC	exon_skip_105115	rs1431580	chr18:62110153	5.210805e-05	1.025462e-02

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Correlation with RNA binding proteins (RBPs) for PIGN

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RBM6	exon_skip_105115	-6.150671e-01	3.323689e-13
CB	PCBP1	exon_skip_105115	-4.816468e-01	5.788427e-08
CB	PCBP4	exon_skip_105115	4.860870e-01	4.191677e-08
CB	SNRPA	exon_skip_105115	-4.381508e-01	1.085684e-06
CB	PTBP1	exon_skip_105115	-4.919451e-01	2.718839e-08
IFG	ZNF326	exon_skip_105115	4.052419e-01	4.446986e-02
IFG	PCBP4	exon_skip_105115	4.241534e-01	3.458987e-02
TC	RBM6	exon_skip_105115	-5.055628e-01	1.152837e-09
TC	PTBP1	exon_skip_105115	-4.844317e-01	6.879220e-09

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RelatedDrugs for PIGN

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 PIGN

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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