ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for CLU

Gene summary

Gene information	Gene symbol	CLU
	Gene ID	1191
	Gene name	clusterin
	Synonyms	AAG4\|APO-J\|APOJ\|CLI\|CLU1\|CLU2\|KUB1\|NA1/NA2\|SGP-2\|SGP2\|SP-40\|TRPM-2\|TRPM2
	Cytomap	8p21.1
	Type of gene	protein-coding
	Description	clusterinaging-associated protein 4apolipoprotein Jcomplement cytolysis inhibitorcomplement lysis inhibitorcomplement-associated protein SP-40,40epididymis secretory sperm binding proteinku70-binding protein 1sulfated glycoprotein 2testosterone-r
	Modification date	20200327
	UniProtAcc	E5RG36, E5RGB0, E5RH61, E5RJD6, E5RJZ5, E7ERK6, E7ETB4, H0YAS8, H0YC35, H0YLK8, P10909, Q8IWM0,
	Context	- 30090055(Clusterin Is Required for beta-Amyloid Toxicity in Human iPSC-Derived Neurons)

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

Gene	GO ID	GO term	PubMed ID
CLU	GO:0000902	cell morphogenesis	15857407
CLU	GO:0001774	microglial cell activation	15857407
CLU	GO:0017038	protein import	24446231
CLU	GO:0031333	negative regulation of protein complex assembly	22179788\|23106396
CLU	GO:0031334	positive regulation of protein complex assembly	22179788
CLU	GO:0032760	positive regulation of tumor necrosis factor production	15857407
CLU	GO:0045429	positive regulation of nitric oxide biosynthetic process	15857407
CLU	GO:0050821	protein stabilization	11123922\|12176985
CLU	GO:0051131	chaperone-mediated protein complex assembly	17412999
CLU	GO:0051788	response to misfolded protein	19996109
CLU	GO:0061077	chaperone-mediated protein folding	11123922
CLU	GO:0061518	microglial cell proliferation	15857407
CLU	GO:1900221	regulation of amyloid-beta clearance	24446231
CLU	GO:1901214	regulation of neuron death	17412999
CLU	GO:1901216	positive regulation of neuron death	15857407
CLU	GO:1902430	negative regulation of amyloid-beta formation	12047389\|17412999
CLU	GO:1905907	negative regulation of amyloid fibril formation	22179788

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Gene structures and expression levels for CLU

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.

ENSG00000120885

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
HCC	UP	ENST00000521770.1	CLU-208:protein_coding:CLU	4.530189e+02	1.835134e+00	1.136400e-03	3.686749e-02
STG	UP	ENST00000560566.5	CLU-217:protein_coding:CLU	2.759741e+02	9.325787e-01	5.476903e-05	7.768579e-03
STG	UP	ENST00000522502.1	CLU-213:retained_intron:CLU	3.431795e+01	1.585614e+00	2.823815e-04	1.997477e-02
PG	UP	ENST00000519742.5	CLU-205:protein_coding:CLU	6.573905e+01	2.292577e+00	6.455068e-15	2.895998e-11
PG	UP	ENST00000520491.5	CLU-206:protein_coding:CLU	8.704201e+01	1.657622e+00	6.040391e-08	1.009352e-05
TC	UP	ENST00000522413.5	CLU-212:protein_coding:CLU	1.431850e+02	9.785777e-01	1.586647e-12	5.539412e-10
TC	UP	ENST00000560566.5	CLU-217:protein_coding:CLU	1.807149e+03	9.430160e-01	1.435151e-06	5.379117e-05
TC	UP	ENST00000520491.5	CLU-206:protein_coding:CLU	3.268571e+01	8.353281e-01	2.829036e-04	3.677131e-03

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 CLU

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_120232	chr8	27599780:27600009:27604291:27604395:27604924:27605069	27604291:27604395
exon_skip_153928	chr8	27610475:27610600:27614173:27614370:27614655:27614681	27614173:27614370
exon_skip_15639	chr8	27605172:27605335:27606354:27606524:27608938:27608977	27606354:27606524
exon_skip_172627	chr8	27598537:27598635:27599780:27600009:27604291:27604395	27599780:27600009
exon_skip_181475	chr8	27604366:27604395:27604924:27605335:27606354:27606438	27604924:27605335
exon_skip_205255	chr8	27598537:27598635:27599780:27600009:27604291:27604300	27599780:27600009
exon_skip_206127	chr8	27605297:27605335:27606354:27606524:27608938:27608977	27606354:27606524
exon_skip_239746	chr8	27604366:27604395:27604924:27605335:27606354:27606524	27604924:27605335
exon_skip_254678	chr8	27599890:27600009:27604291:27604395:27604924:27605069	27604291:27604395
exon_skip_281117	chr8	27599980:27600009:27604291:27604395:27604924:27605069	27604291:27604395
exon_skip_31944	chr8	27605321:27605335:27606354:27606524:27608938:27609086	27606354:27606524
exon_skip_39545	chr8	27599780:27600009:27604291:27604395:27604924:27605017	27604291:27604395
exon_skip_42276	chr8	27605172:27605335:27606354:27606524:27608938:27609086	27606354:27606524
exon_skip_46930	chr8	27598625:27598635:27599780:27600009:27604291:27604395	27599780:27600009
exon_skip_91237	chr8	27610475:27610600:27613578:27613683:27614655:27614681	27613578:27613683
exon_skip_92155	chr8	27599780:27600009:27604291:27604395:27604924:27604937	27604291:27604395

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 CLU

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
ENST00000316403	27599780	27600009	Frame-shift
ENST00000405140	27599780	27600009	Frame-shift
ENST00000523500	27599780	27600009	Frame-shift
ENST00000316403	27604924	27605335	Frame-shift
ENST00000405140	27604924	27605335	Frame-shift
ENST00000523500	27604924	27605335	Frame-shift
ENST00000316403	27604291	27604395	In-frame
ENST00000405140	27604291	27604395	In-frame
ENST00000523500	27604291	27604395	In-frame
ENST00000316403	27606354	27606524	In-frame
ENST00000405140	27606354	27606524	In-frame
ENST00000523500	27606354	27606524	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

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
ENST00000316403	27599780	27600009	Frame-shift
ENST00000405140	27599780	27600009	Frame-shift
ENST00000523500	27599780	27600009	Frame-shift
ENST00000316403	27604924	27605335	Frame-shift
ENST00000405140	27604924	27605335	Frame-shift
ENST00000523500	27604924	27605335	Frame-shift
ENST00000316403	27604291	27604395	In-frame
ENST00000405140	27604291	27604395	In-frame
ENST00000523500	27604291	27604395	In-frame
ENST00000316403	27606354	27606524	In-frame
ENST00000405140	27606354	27606524	In-frame
ENST00000523500	27606354	27606524	In-frame

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

p-ENSG00000120885_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
ENST00000316403	3097	449	27606354	27606524	653	822	82	138
ENST00000405140	2115	449	27606354	27606524	562	731	82	138
ENST00000523500	2398	449	27606354	27606524	1033	1202	82	138
ENST00000316403	3097	449	27604291	27604395	1236	1339	276	311
ENST00000405140	2115	449	27604291	27604395	1145	1248	276	311
ENST00000523500	2398	449	27604291	27604395	1616	1719	276	311

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
ENST00000316403	3097	449	27606354	27606524	653	822	82	138
ENST00000405140	2115	449	27606354	27606524	562	731	82	138
ENST00000523500	2398	449	27606354	27606524	1033	1202	82	138
ENST00000316403	3097	449	27604291	27604395	1236	1339	276	311
ENST00000405140	2115	449	27604291	27604395	1145	1248	276	311
ENST00000523500	2398	449	27604291	27604395	1616	1719	276	311

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
P10909	82	138	1	175	Alternative sequence	ID=VSP_041475;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P10909	82	138	1	175	Alternative sequence	ID=VSP_041475;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P10909	82	138	1	175	Alternative sequence	ID=VSP_041475;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P10909	82	138	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	82	138	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	82	138	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	82	138	23	227	Chain	ID=PRO_0000005530;Note=Clusterin beta chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	82	138	23	227	Chain	ID=PRO_0000005530;Note=Clusterin beta chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	82	138	23	227	Chain	ID=PRO_0000005530;Note=Clusterin beta chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	82	138	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	86	86	Glycosylation	Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19139490,ECO:0000269\|PubMed:19159218,ECO:0000269\|Pu
P10909	82	138	86	86	Glycosylation	Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19139490,ECO:0000269\|PubMed:19159218,ECO:0000269\|Pu
P10909	82	138	86	86	Glycosylation	Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19139490,ECO:0000269\|PubMed:19159218,ECO:0000269\|Pu
P10909	82	138	103	103	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19159218,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	82	138	103	103	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19159218,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	82	138	103	103	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19159218,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	82	138	133	133	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P10909	82	138	133	133	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P10909	82	138	133	133	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P10909	276	311	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	276	311	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	276	311	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	276	311	228	449	Chain	ID=PRO_0000005531;Note=Clusterin alpha chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	276	311	228	449	Chain	ID=PRO_0000005531;Note=Clusterin alpha chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	276	311	228	449	Chain	ID=PRO_0000005531;Note=Clusterin alpha chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	276	311	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:18780401,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	276	311	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:18780401,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	276	311	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:18780401,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	276	311	305	305	Sequence conflict	Note=C->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10909	276	311	305	305	Sequence conflict	Note=C->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10909	276	311	305	305	Sequence conflict	Note=C->M;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

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
P10909	82	138	1	175	Alternative sequence	ID=VSP_041475;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P10909	82	138	1	175	Alternative sequence	ID=VSP_041475;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P10909	82	138	1	175	Alternative sequence	ID=VSP_041475;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P10909	82	138	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	82	138	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	82	138	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	82	138	23	227	Chain	ID=PRO_0000005530;Note=Clusterin beta chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	82	138	23	227	Chain	ID=PRO_0000005530;Note=Clusterin beta chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	82	138	23	227	Chain	ID=PRO_0000005530;Note=Clusterin beta chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	82	138	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	82	138	86	86	Glycosylation	Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19139490,ECO:0000269\|PubMed:19159218,ECO:0000269\|Pu
P10909	82	138	86	86	Glycosylation	Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19139490,ECO:0000269\|PubMed:19159218,ECO:0000269\|Pu
P10909	82	138	86	86	Glycosylation	Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19139490,ECO:0000269\|PubMed:19159218,ECO:0000269\|Pu
P10909	82	138	103	103	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19159218,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	82	138	103	103	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19159218,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	82	138	103	103	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:19159218,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	82	138	133	133	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P10909	82	138	133	133	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P10909	82	138	133	133	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P10909	276	311	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	276	311	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	276	311	23	449	Chain	ID=PRO_0000005529;Note=Clusterin
P10909	276	311	228	449	Chain	ID=PRO_0000005531;Note=Clusterin alpha chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	276	311	228	449	Chain	ID=PRO_0000005531;Note=Clusterin alpha chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	276	311	228	449	Chain	ID=PRO_0000005531;Note=Clusterin alpha chain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1974459;Dbxref=PMID:1974459
P10909	276	311	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	102	313	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	113	305	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	116	302	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	121	295	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	129	285	Disulfide bond	Note=Interchain (between beta and alpha chains)
P10909	276	311	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:18780401,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	276	311	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:18780401,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	276	311	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1551440,ECO:0000269\|PubMed:16335952,ECO:0000269\|PubMed:18780401,ECO:0000269\|PubMed:2721499,ECO:0000269\|PubMed:933683
P10909	276	311	305	305	Sequence conflict	Note=C->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10909	276	311	305	305	Sequence conflict	Note=C->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10909	276	311	305	305	Sequence conflict	Note=C->M;Ontology_term=ECO:0000305;evidence=ECO:0000305

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

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 CLU

- 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 CLU

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 CLU

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 CLU

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for CLU

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P10909	approved\|investigational	DB01593	Zinc	small molecule	P10909
P10909	approved\|investigational	DB14487	Zinc acetate	small molecule	P10909
P10909	approved\|investigational	DB14533	Zinc chloride	small molecule	P10909

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RelatedDiseases for CLU

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 CLU

Gene structures and expression levels for CLU

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

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

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

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

SNVs in the skipped exons for CLU

AD stage-associated exon skippint events for CLU

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

Correlation with RNA binding proteins (RBPs) for CLU

RelatedDrugs for CLU

RelatedDiseases for CLU