ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PLEC

Gene summary

Gene information	Gene symbol	PLEC
	Gene ID	5339
	Gene name	plectin
	Synonyms	EBS1\|EBSMD\|EBSND\|EBSO\|EBSOG\|EBSPA\|HD1\|LGMD2Q\|LGMDR17\|PCN\|PLEC1\|PLEC1b\|PLTN
	Cytomap	8q24.3
	Type of gene	protein-coding
	Description	plectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDa
	Modification date	20200313
	UniProtAcc	E9PIA2, E9PKG0, E9PMV1, E9PQ28, H0YDN1, Q15149,
	Context

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

Gene	GO ID	GO term	PubMed ID
PLEC	GO:0031581	hemidesmosome assembly	12482924

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Gene structures and expression levels for PLEC

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.

ENSG00000178209

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	ENST00000398774.6	PLEC-207:protein_coding:PLEC	4.065291e+01	4.925651e+00	2.172799e-04	9.719207e-03
STG	UP	ENST00000354958.6	PLEC-204:protein_coding:PLEC	7.805607e+02	1.121336e+00	6.888725e-07	3.943257e-04
PG	UP	ENST00000322810.8	PLEC-201:protein_coding:PLEC	6.178145e+02	8.529696e-01	8.274441e-05	2.386595e-03
PG	UP	ENST00000356346.7	PLEC-205:protein_coding:PLEC	3.504705e+02	8.628056e-01	6.853946e-04	1.108030e-02
CB	DOWN	ENST00000398774.6	PLEC-207:protein_coding:PLEC	1.041898e+03	-2.076872e+00	7.790103e-03	2.833158e-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 PLEC

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_10313	chr8	143935979:143936014:143936979:143937071:143937165:143937242	143936979:143937071
exon_skip_106060	chr8	143938153:143938240:143938401:143938415:143938631:143938692	143938401:143938415
exon_skip_107550	chr8	143937165:143937242:143937749:143937784:143938151:143938240	143937749:143937784
exon_skip_119272	chr8	143932400:143932561:143932635:143932712:143932793:143933111	143932635:143932712
exon_skip_123207	chr8	143922343:143922395:143922504:143925884:143926784:143926882	143922504:143925884
exon_skip_124283	chr8	143919407:143922395:143922504:143925884:143926784:143926882	143922504:143925884
exon_skip_164789	chr8	143938151:143938240:143938401:143938415:143938631:143938692	143938401:143938415
exon_skip_199983	chr8	143929103:143929281:143929414:143929571:143929646:143929829	143929414:143929571
exon_skip_217237	chr8	143922368:143922395:143922504:143925884:143926784:143926882	143922504:143925884
exon_skip_223252	chr8	143916177:143922395:143922504:143925884:143926784:143926882	143922504:143925884
exon_skip_232470	chr8	143937211:143937242:143937749:143937784:143938151:143938240	143937749:143937784
exon_skip_242368	chr8	143922310:143922395:143922504:143925884:143926784:143926882	143922504:143925884
exon_skip_255276	chr8	143922286:143922395:143922504:143925884:143926784:143926882	143922504:143925884
exon_skip_27307	chr8	143922276:143922395:143922504:143925884:143926784:143926882	143922504:143925884
exon_skip_293174	chr8	143921628:143922395:143922504:143925884:143926784:143926882	143922504:143925884
exon_skip_54153	chr8	143936979:143937071:143937165:143937242:143938151:143938240	143937165:143937242
exon_skip_89777	chr8	143931534:143931659:143931937:143932032:143932130:143932234	143931937:143932032

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_107550	MSBB_PG	1.639286e-01	2.964286e-01	-1.325000e-01	1.525726e-07
exon_skip_164789	MSBB_PG	3.168571e-01	5.000000e-01	-1.831429e-01	2.649551e-06
exon_skip_106060	Mayo_TC	2.925610e-01	4.158974e-01	-1.233365e-01	5.563146e-05

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

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
ENST00000322810	143922504	143925884	In-frame
ENST00000322810	143931937	143932032	In-frame
ENST00000322810	143932635	143932712	In-frame
ENST00000322810	143936979	143937071	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
ENST00000322810	143922504	143925884	In-frame
ENST00000322810	143937165	143937242	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
ENST00000322810	143929414	143929571	Frame-shift
ENST00000322810	143922504	143925884	In-frame
ENST00000322810	143931937	143932032	In-frame
ENST00000322810	143932635	143932712	In-frame
ENST00000322810	143937165	143937242	In-frame

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

p-ENSG00000178209_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
ENST00000322810	15266	4684	143936979	143937071	924	1015	251	281
ENST00000322810	15266	4684	143932635	143932712	2319	2395	716	741
ENST00000322810	15266	4684	143931937	143932032	2664	2758	831	862
ENST00000322810	15266	4684	143922504	143925884	4626	8005	1485	2611

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
ENST00000322810	15266	4684	143937165	143937242	846	922	225	250
ENST00000322810	15266	4684	143922504	143925884	4626	8005	1485	2611

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
ENST00000322810	15266	4684	143937165	143937242	846	922	225	250
ENST00000322810	15266	4684	143932635	143932712	2319	2395	716	741
ENST00000322810	15266	4684	143931937	143932032	2664	2758	831	862
ENST00000322810	15266	4684	143922504	143925884	4626	8005	1485	2611

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
Q15149	251	281	1	4684	Chain	ID=PRO_0000078135;Note=Plectin
Q15149	251	281	179	282	Domain	Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00044
Q15149	251	281	259	263	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1MB8
Q15149	251	281	267	282	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1MB8
Q15149	251	281	1	1470	Region	Note=Globular 1
Q15149	251	281	175	400	Region	Note=Actin-binding
Q15149	251	281	259	259	Sequence conflict	Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	251	281	259	259	Sequence conflict	Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	716	741	1	4684	Chain	ID=PRO_0000078135;Note=Plectin
Q15149	716	741	715	718	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PDY
Q15149	716	741	721	778	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PDY
Q15149	716	741	720	720	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19369195,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163,E
Q15149	716	741	1	1470	Region	Note=Globular 1
Q15149	716	741	740	824	Repeat	Note=Spectrin 2
Q15149	831	862	1	4684	Chain	ID=PRO_0000078135;Note=Plectin
Q15149	831	862	827	854	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PDY
Q15149	831	862	861	886	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5J1H
Q15149	831	862	1	1470	Region	Note=Globular 1
Q15149	831	862	837	930	Repeat	Note=Spectrin 3
Q15149	1485	2611	1	4684	Chain	ID=PRO_0000078135;Note=Plectin
Q15149	1485	2611	1469	2756	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15149	1485	2611	1493	1527	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GDO
Q15149	1485	2611	1721	1721	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:17081983;Dbxref=PMID:17081983
Q15149	1485	2611	1725	1725	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QXS1
Q15149	1485	2611	1732	1732	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q15149	1485	2611	2005	2005	Natural variant	ID=VAR_076564;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25556389;Dbxref=dbSNP:rs200543521,PMID:25556389
Q15149	1485	2611	2110	2110	Natural variant	ID=VAR_015817;Note=In O-EBS. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11851880;Dbxref=dbSNP:rs80338756,PMID:11851880
Q15149	1485	2611	2150	2150	Natural variant	ID=VAR_053586;Note=R->W;Dbxref=dbSNP:rs34893635
Q15149	1485	2611	2194	2194	Natural variant	ID=VAR_053587;Note=A->V;Dbxref=dbSNP:rs7002002
Q15149	1485	2611	1471	2755	Region	Note=Central fibrous rod domain
Q15149	1485	2611	1534	1534	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1662	1662	Sequence conflict	Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1662	1662	Sequence conflict	Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1688	1690	Sequence conflict	Note=RLR->WLC;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1767	1767	Sequence conflict	Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1789	1789	Sequence conflict	Note=A->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1910	1910	Sequence conflict	Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2160	2160	Sequence conflict	Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2215	2215	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q15149	225	250	1	4684	Chain	ID=PRO_0000078135;Note=Plectin
Q15149	225	250	179	282	Domain	Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00044
Q15149	225	250	233	249	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1MB8
Q15149	225	250	1	1470	Region	Note=Globular 1
Q15149	225	250	175	400	Region	Note=Actin-binding
Q15149	1485	2611	1	4684	Chain	ID=PRO_0000078135;Note=Plectin
Q15149	1485	2611	1469	2756	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15149	1485	2611	1493	1527	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GDO
Q15149	1485	2611	1721	1721	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:17081983;Dbxref=PMID:17081983
Q15149	1485	2611	1725	1725	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QXS1
Q15149	1485	2611	1732	1732	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q15149	1485	2611	2005	2005	Natural variant	ID=VAR_076564;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25556389;Dbxref=dbSNP:rs200543521,PMID:25556389
Q15149	1485	2611	2110	2110	Natural variant	ID=VAR_015817;Note=In O-EBS. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11851880;Dbxref=dbSNP:rs80338756,PMID:11851880
Q15149	1485	2611	2150	2150	Natural variant	ID=VAR_053586;Note=R->W;Dbxref=dbSNP:rs34893635
Q15149	1485	2611	2194	2194	Natural variant	ID=VAR_053587;Note=A->V;Dbxref=dbSNP:rs7002002
Q15149	1485	2611	1471	2755	Region	Note=Central fibrous rod domain
Q15149	1485	2611	1534	1534	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1662	1662	Sequence conflict	Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1662	1662	Sequence conflict	Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1688	1690	Sequence conflict	Note=RLR->WLC;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1767	1767	Sequence conflict	Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1789	1789	Sequence conflict	Note=A->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1910	1910	Sequence conflict	Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2160	2160	Sequence conflict	Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2215	2215	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q15149	225	250	1	4684	Chain	ID=PRO_0000078135;Note=Plectin
Q15149	225	250	179	282	Domain	Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00044
Q15149	225	250	233	249	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1MB8
Q15149	225	250	1	1470	Region	Note=Globular 1
Q15149	225	250	175	400	Region	Note=Actin-binding
Q15149	716	741	1	4684	Chain	ID=PRO_0000078135;Note=Plectin
Q15149	716	741	715	718	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PDY
Q15149	716	741	721	778	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PDY
Q15149	716	741	720	720	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19369195,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163,E
Q15149	716	741	1	1470	Region	Note=Globular 1
Q15149	716	741	740	824	Repeat	Note=Spectrin 2
Q15149	831	862	1	4684	Chain	ID=PRO_0000078135;Note=Plectin
Q15149	831	862	827	854	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3PDY
Q15149	831	862	861	886	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5J1H
Q15149	831	862	1	1470	Region	Note=Globular 1
Q15149	831	862	837	930	Repeat	Note=Spectrin 3
Q15149	1485	2611	1	4684	Chain	ID=PRO_0000078135;Note=Plectin
Q15149	1485	2611	1469	2756	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15149	1485	2611	1493	1527	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GDO
Q15149	1485	2611	1721	1721	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:17081983;Dbxref=PMID:17081983
Q15149	1485	2611	1725	1725	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QXS1
Q15149	1485	2611	1732	1732	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q15149	1485	2611	2005	2005	Natural variant	ID=VAR_076564;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25556389;Dbxref=dbSNP:rs200543521,PMID:25556389
Q15149	1485	2611	2110	2110	Natural variant	ID=VAR_015817;Note=In O-EBS. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11851880;Dbxref=dbSNP:rs80338756,PMID:11851880
Q15149	1485	2611	2150	2150	Natural variant	ID=VAR_053586;Note=R->W;Dbxref=dbSNP:rs34893635
Q15149	1485	2611	2194	2194	Natural variant	ID=VAR_053587;Note=A->V;Dbxref=dbSNP:rs7002002
Q15149	1485	2611	1471	2755	Region	Note=Central fibrous rod domain
Q15149	1485	2611	1534	1534	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1662	1662	Sequence conflict	Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1662	1662	Sequence conflict	Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1688	1690	Sequence conflict	Note=RLR->WLC;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1767	1767	Sequence conflict	Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1789	1789	Sequence conflict	Note=A->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	1910	1910	Sequence conflict	Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2154	2154	Sequence conflict	Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2160	2160	Sequence conflict	Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2215	2215	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15149	1485	2611	2244	2244	Sequence conflict	Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305

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

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 PLEC

- 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 PLEC

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 PLEC

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 PLEC

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RBM6	exon_skip_27307	4.856024e-01	8.707502e-11
CB	SNRPA	exon_skip_27307	4.408612e-01	6.031890e-09
CB	RBM45	exon_skip_27307	-5.358741e-01	3.369193e-13
CB	RBM4	exon_skip_27307	4.824267e-01	1.200802e-10
HCC	SAMD4A	exon_skip_107550	-6.189214e-01	6.102076e-30
HCC	RBM5	exon_skip_107550	-4.846790e-01	2.594900e-17
HCC	HNRNPF	exon_skip_107550	-6.028973e-01	4.118983e-28
HCC	RBM4B	exon_skip_107550	-4.255025e-01	2.678477e-13
HCC	PCBP1	exon_skip_164789	-4.292813e-01	1.271116e-13
IFG	RBM24	exon_skip_223252	-4.606959e-01	1.361891e-02
IFG	SAMD4A	exon_skip_107550	-4.840348e-01	9.057115e-03
PCC	HNRNPF	exon_skip_107550	-4.067556e-01	1.083350e-09
PG	SAMD4A	exon_skip_107550	-4.893712e-01	3.377262e-13
PG	PCBP1	exon_skip_107550	4.898357e-01	3.183977e-13
PG	HNRNPK	exon_skip_107550	4.934019e-01	2.019055e-13
PG	HNRNPH2	exon_skip_107550	6.074806e-01	3.723101e-21
PG	PCBP1	exon_skip_164789	5.146133e-01	8.791682e-15
STG	ENOX1	exon_skip_223252	-4.027518e-01	1.327052e-04
STG	PCBP1	exon_skip_107550	4.283215e-01	2.050593e-05
STG	HNRNPH2	exon_skip_107550	5.199407e-01	1.086904e-07
TC	SAMD4A	exon_skip_232470	-4.797458e-01	1.374274e-10
TC	HNRNPH2	exon_skip_232470	4.039440e-01	1.177481e-07
TC	HNRNPF	exon_skip_232470	-4.780665e-01	1.626030e-10

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RelatedDrugs for PLEC

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 PLEC

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 PLEC

Gene structures and expression levels for PLEC

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

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

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

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

SNVs in the skipped exons for PLEC

AD stage-associated exon skippint events for PLEC

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

Correlation with RNA binding proteins (RBPs) for PLEC

RelatedDrugs for PLEC

RelatedDiseases for PLEC