ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for HECW2

Gene summary

Gene information	Gene symbol	HECW2
	Gene ID	57520
	Gene name	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
	Synonyms	NDHSAL\|NEDL2
	Cytomap	2q32.3
	Type of gene	protein-coding
	Description	E3 ubiquitin-protein ligase HECW2HECT-type E3 ubiquitin transferase HECW2NEDD4-like E3 ubiquitin-protein ligase 2NEDD4-related E3 ubiquitin ligase NEDL2
	Modification date	20200313
	UniProtAcc	A0A2R8Y6F3, A0A2R8YE75, C9JHL2, Q9P2P5,
	Context	- 21782286(A Genome-Wide Association Study of Aging)

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 HECW2

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.

ENSG00000138411

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	ENST00000644030.1	HECW2-208:protein_coding:HECW2	2.562520e+01	8.032414e-01	3.655417e-04	2.213188e-03
CB	UP	ENST00000647402.1	HECW2-217:retained_intron:HECW2	7.048572e-01	9.456895e-01	1.250191e-02	4.167513e-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 HECW2

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_137819	chr2	196253920:196254029:196257823:196257906:196271193:196271289	196257823:196257906
exon_skip_200123	chr2	196274021:196274123:196278528:196278662:196292565:196292750	196278528:196278662
exon_skip_230065	chr2	196318552:196319925:196320339:196320439:196322478:196322620	196320339:196320439
exon_skip_230794	chr2	196225772:196225870:196228102:196228254:196240449:196240562	196228102:196228254
exon_skip_251374	chr2	196271193:196271289:196274021:196274123:196278528:196278662	196274021:196274123
exon_skip_263413	chr2	196242084:196242204:196253920:196254029:196257823:196257906	196253920:196254029
exon_skip_276008	chr2	196433132:196433458:196493244:196493375:196593508:196593554	196493244:196493375
exon_skip_45283	chr2	196318552:196319904:196320339:196320439:196322478:196322620	196320339:196320439
exon_skip_57548	chr2	196334424:196334518:196343657:196343764:196433132:196433458	196343657:196343764
exon_skip_67094	chr2	196220795:196220941:196222211:196222340:196225772:196225870	196222211:196222340

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 HECW2

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
ENST00000260983	196253920	196254029	Frame-shift
ENST00000644256	196253920	196254029	Frame-shift
ENST00000644978	196253920	196254029	Frame-shift
ENST00000260983	196274021	196274123	Frame-shift
ENST00000644256	196274021	196274123	Frame-shift
ENST00000644978	196274021	196274123	Frame-shift
ENST00000260983	196320339	196320439	Frame-shift
ENST00000644256	196320339	196320439	Frame-shift
ENST00000644978	196320339	196320439	Frame-shift
ENST00000260983	196257823	196257906	In-frame
ENST00000644256	196257823	196257906	In-frame
ENST00000644978	196257823	196257906	In-frame
ENST00000260983	196278528	196278662	In-frame
ENST00000644256	196278528	196278662	In-frame
ENST00000644978	196278528	196278662	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
ENST00000260983	196320339	196320439	Frame-shift
ENST00000644256	196320339	196320439	Frame-shift
ENST00000644978	196320339	196320439	Frame-shift
ENST00000260983	196257823	196257906	In-frame
ENST00000644256	196257823	196257906	In-frame
ENST00000644978	196257823	196257906	In-frame
ENST00000260983	196278528	196278662	In-frame
ENST00000644256	196278528	196278662	In-frame
ENST00000644978	196278528	196278662	In-frame
ENST00000260983	196343657	196343764	In-frame
ENST00000644256	196343657	196343764	In-frame
ENST00000644978	196343657	196343764	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
ENST00000260983	196222211	196222340	Frame-shift
ENST00000644256	196222211	196222340	Frame-shift
ENST00000644978	196222211	196222340	Frame-shift
ENST00000260983	196274021	196274123	Frame-shift
ENST00000644256	196274021	196274123	Frame-shift
ENST00000644978	196274021	196274123	Frame-shift
ENST00000260983	196320339	196320439	Frame-shift
ENST00000644256	196320339	196320439	Frame-shift
ENST00000644978	196320339	196320439	Frame-shift
ENST00000260983	196228102	196228254	In-frame
ENST00000644256	196228102	196228254	In-frame
ENST00000644978	196228102	196228254	In-frame
ENST00000260983	196257823	196257906	In-frame
ENST00000644256	196257823	196257906	In-frame
ENST00000644978	196257823	196257906	In-frame
ENST00000260983	196278528	196278662	In-frame
ENST00000644256	196278528	196278662	In-frame
ENST00000644978	196278528	196278662	In-frame

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Infer the effects of exon skipping event on protein functional features for HECW2

p-ENSG00000138411_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
ENST00000260983	12197	1572	196278528	196278662	3257	3390	1000	1044
ENST00000644256	6933	1572	196278528	196278662	3258	3391	1000	1044
ENST00000644978	6882	1572	196278528	196278662	3221	3354	1000	1044
ENST00000260983	12197	1572	196257823	196257906	3592	3674	1112	1139
ENST00000644256	6933	1572	196257823	196257906	3593	3675	1112	1139
ENST00000644978	6882	1572	196257823	196257906	3556	3638	1112	1139

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
ENST00000260983	12197	1572	196343657	196343764	549	655	97	133
ENST00000644256	6933	1572	196343657	196343764	550	656	97	133
ENST00000644978	6882	1572	196343657	196343764	513	619	97	133
ENST00000260983	12197	1572	196278528	196278662	3257	3390	1000	1044
ENST00000644256	6933	1572	196278528	196278662	3258	3391	1000	1044
ENST00000644978	6882	1572	196278528	196278662	3221	3354	1000	1044
ENST00000260983	12197	1572	196257823	196257906	3592	3674	1112	1139
ENST00000644256	6933	1572	196257823	196257906	3593	3675	1112	1139
ENST00000644978	6882	1572	196257823	196257906	3556	3638	1112	1139

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
ENST00000260983	12197	1572	196278528	196278662	3257	3390	1000	1044
ENST00000644256	6933	1572	196278528	196278662	3258	3391	1000	1044
ENST00000644978	6882	1572	196278528	196278662	3221	3354	1000	1044
ENST00000260983	12197	1572	196257823	196257906	3592	3674	1112	1139
ENST00000644256	6933	1572	196257823	196257906	3593	3675	1112	1139
ENST00000644978	6882	1572	196257823	196257906	3556	3638	1112	1139
ENST00000260983	12197	1572	196228102	196228254	4021	4172	1255	1305
ENST00000644256	6933	1572	196228102	196228254	4022	4173	1255	1305
ENST00000644978	6882	1572	196228102	196228254	3985	4136	1255	1305

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
Q9P2P5	1000	1044	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1000	1044	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1000	1044	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1000	1044	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1000	1044	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1000	1044	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1000	1044	985	1018	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q9P2P5	1000	1044	985	1018	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q9P2P5	1000	1044	985	1018	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q9P2P5	1000	1044	737	1068	Region	Note=Interaction with TP73;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12890487;Dbxref=PMID:12890487
Q9P2P5	1000	1044	737	1068	Region	Note=Interaction with TP73;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12890487;Dbxref=PMID:12890487
Q9P2P5	1000	1044	737	1068	Region	Note=Interaction with TP73;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12890487;Dbxref=PMID:12890487
Q9P2P5	1112	1139	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1112	1139	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1112	1139	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1112	1139	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1112	1139	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1112	1139	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2

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
Q9P2P5	97	133	1	131	Alternative sequence	ID=VSP_059106;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	97	133	1	131	Alternative sequence	ID=VSP_059106;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	97	133	1	131	Alternative sequence	ID=VSP_059106;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	97	133	117	123	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LFE
Q9P2P5	97	133	117	123	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LFE
Q9P2P5	97	133	117	123	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LFE
Q9P2P5	97	133	133	144	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LFE
Q9P2P5	97	133	133	144	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LFE
Q9P2P5	97	133	133	144	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LFE
Q9P2P5	97	133	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	97	133	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	97	133	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1000	1044	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1000	1044	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1000	1044	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1000	1044	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1000	1044	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1000	1044	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1000	1044	985	1018	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q9P2P5	1000	1044	985	1018	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q9P2P5	1000	1044	985	1018	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q9P2P5	1000	1044	737	1068	Region	Note=Interaction with TP73;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12890487;Dbxref=PMID:12890487
Q9P2P5	1000	1044	737	1068	Region	Note=Interaction with TP73;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12890487;Dbxref=PMID:12890487
Q9P2P5	1000	1044	737	1068	Region	Note=Interaction with TP73;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12890487;Dbxref=PMID:12890487
Q9P2P5	1112	1139	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1112	1139	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1112	1139	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1112	1139	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1112	1139	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1112	1139	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2

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
Q9P2P5	1000	1044	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1000	1044	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1000	1044	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1000	1044	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1000	1044	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1000	1044	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1000	1044	985	1018	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q9P2P5	1000	1044	985	1018	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q9P2P5	1000	1044	985	1018	Domain	Note=WW 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q9P2P5	1000	1044	737	1068	Region	Note=Interaction with TP73;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12890487;Dbxref=PMID:12890487
Q9P2P5	1000	1044	737	1068	Region	Note=Interaction with TP73;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12890487;Dbxref=PMID:12890487
Q9P2P5	1000	1044	737	1068	Region	Note=Interaction with TP73;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12890487;Dbxref=PMID:12890487
Q9P2P5	1112	1139	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1112	1139	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1112	1139	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1112	1139	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1112	1139	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1112	1139	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1255	1305	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1255	1305	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1255	1305	214	1572	Alternative sequence	ID=VSP_059108;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9P2P5	1255	1305	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1255	1305	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1255	1305	1	1572	Chain	ID=PRO_0000277667;Note=E3 ubiquitin-protein ligase HECW2
Q9P2P5	1255	1305	1237	1572	Domain	Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00104
Q9P2P5	1255	1305	1237	1572	Domain	Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00104
Q9P2P5	1255	1305	1237	1572	Domain	Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00104

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3'-UTR located exon skipping events that lost miRNA binding sites in HECW2

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 HECW2

- 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 HECW2

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 HECW2

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 HECW2

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for HECW2

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 HECW2

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 HECW2

Gene structures and expression levels for HECW2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for HECW2

Open reading frame (ORF) annotation in the exon skipping event for HECW2

Infer the effects of exon skipping event on protein functional features for HECW2

3'-UTR located exon skipping events that lost miRNA binding sites in HECW2

SNVs in the skipped exons for HECW2

AD stage-associated exon skippint events for HECW2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HECW2

Correlation with RNA binding proteins (RBPs) for HECW2

RelatedDrugs for HECW2

RelatedDiseases for HECW2