ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ELAC2

Gene summary

Gene information	Gene symbol	ELAC2
	Gene ID	60528
	Gene name	elaC ribonuclease Z 2
	Synonyms	COXPD17\|ELC2\|HPC2
	Cytomap	17p12
	Type of gene	protein-coding
	Description	zinc phosphodiesterase ELAC protein 2RNase Z 2elaC homolog 2elaC homolog protein 2elaC-like protein 2heredity prostate cancer protein 2putative prostate cancer susceptibility protein HPC2/ELAC2ribonuclease Z 2tRNA 3 endonuclease 2tRNase Z (long f
	Modification date	20180523
	UniProtAcc	Q9BQ52
	Context	PubMed: ELAC2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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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Exon skipping events across known transcript of Ensembl for ELAC2 from UCSC genome browser

Skipped exons in TCGA and GTEx 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.

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Gene isoform structures and expression levels for ELAC2

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for ELAC2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_286727	17	12895927:12896362:12897003:12897148:12897741:12897820	12897003:12897148	ENSG00000006744.14	ENST00000465825.1,ENST00000584650.1,ENST00000484122.1,ENST00000426905.3,ENST00000487229.2,ENST00000480891.1,ENST00000395962.2,ENST00000338034.4
exon_skip_286733	17	12899863:12900002:12901728:12901825:12903472:12903591	12901728:12901825	ENSG00000006744.14	ENST00000465825.1,ENST00000584650.1,ENST00000484122.1,ENST00000426905.3,ENST00000487229.2,ENST00000480891.1,ENST00000395962.2,ENST00000492559.1,ENST00000338034.4
exon_skip_286735	17	12903541:12903591:12905590:12905676:12905757:12905896	12905590:12905676	ENSG00000006744.14	ENST00000584650.1,ENST00000484122.1,ENST00000426905.3,ENST00000480891.1,ENST00000446899.1,ENST00000395962.2,ENST00000578991.1,ENST00000476042.1,ENST00000338034.4
exon_skip_286736	17	12905762:12905896:12906795:12906816:12908305:12908387	12906795:12906816	ENSG00000006744.14	ENST00000584650.1
exon_skip_286737	17	12905762:12905896:12906795:12906891:12908305:12908387	12906795:12906891	ENSG00000006744.14	ENST00000484122.1,ENST00000426905.3,ENST00000480891.1,ENST00000446899.1,ENST00000395962.2,ENST00000338034.4
exon_skip_286741	17	12906865:12906891:12908305:12908418:12909069:12909142	12908305:12908418	ENSG00000006744.14	ENST00000484122.1,ENST00000426905.3,ENST00000609101.1,ENST00000609345.1,ENST00000480891.1,ENST00000395962.2,ENST00000338034.4
exon_skip_286742	17	12906865:12906891:12908305:12908427:12909069:12909142	12908305:12908427	ENSG00000006744.14	ENST00000446899.1
exon_skip_286743	17	12909237:12909296:12913929:12913988:12914979:12914987	12913929:12913988	ENSG00000006744.14	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000446899.1,ENST00000395962.2,ENST00000338034.4
exon_skip_286744	17	12909237:12909296:12913929:12913988:12916523:12916556	12913929:12913988	ENSG00000006744.14	ENST00000426905.3
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENSG00000006744.14	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4
exon_skip_286754	17	12916523:12916592:12917755:12917813:12919084:12919149	12917755:12917813	ENSG00000006744.14	ENST00000484122.1,ENST00000426905.3,ENST00000581499.2,ENST00000609101.1,ENST00000609345.1,ENST00000609757.1,ENST00000395962.2,ENST00000580504.1,ENST00000583371.1,ENST00000338034.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ELAC2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_286727	17	12895927:12896362:12897003:12897148:12897741:12897820	12897003:12897148	ENSG00000006744.14	ENST00000480891.1,ENST00000484122.1,ENST00000338034.4,ENST00000395962.2,ENST00000465825.1,ENST00000487229.2,ENST00000426905.3,ENST00000584650.1
exon_skip_286733	17	12899863:12900002:12901728:12901825:12903472:12903591	12901728:12901825	ENSG00000006744.14	ENST00000480891.1,ENST00000484122.1,ENST00000338034.4,ENST00000395962.2,ENST00000465825.1,ENST00000487229.2,ENST00000426905.3,ENST00000584650.1,ENST00000492559.1
exon_skip_286735	17	12903541:12903591:12905590:12905676:12905757:12905896	12905590:12905676	ENSG00000006744.14	ENST00000480891.1,ENST00000484122.1,ENST00000338034.4,ENST00000395962.2,ENST00000426905.3,ENST00000584650.1,ENST00000446899.1,ENST00000578991.1,ENST00000476042.1
exon_skip_286736	17	12905762:12905896:12906795:12906816:12908305:12908387	12906795:12906816	ENSG00000006744.14	ENST00000584650.1
exon_skip_286737	17	12905762:12905896:12906795:12906891:12908305:12908387	12906795:12906891	ENSG00000006744.14	ENST00000480891.1,ENST00000484122.1,ENST00000338034.4,ENST00000395962.2,ENST00000426905.3,ENST00000446899.1
exon_skip_286741	17	12906865:12906891:12908305:12908418:12909069:12909142	12908305:12908418	ENSG00000006744.14	ENST00000480891.1,ENST00000484122.1,ENST00000338034.4,ENST00000395962.2,ENST00000426905.3,ENST00000609345.1,ENST00000609101.1
exon_skip_286742	17	12906865:12906891:12908305:12908427:12909069:12909142	12908305:12908427	ENSG00000006744.14	ENST00000446899.1
exon_skip_286743	17	12909237:12909296:12913929:12913988:12914979:12914987	12913929:12913988	ENSG00000006744.14	ENST00000484122.1,ENST00000338034.4,ENST00000395962.2,ENST00000584650.1,ENST00000446899.1,ENST00000609345.1,ENST00000609101.1
exon_skip_286744	17	12909237:12909296:12913929:12913988:12916523:12916556	12913929:12913988	ENSG00000006744.14	ENST00000426905.3
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENSG00000006744.14	ENST00000484122.1,ENST00000338034.4,ENST00000395962.2,ENST00000584650.1,ENST00000609345.1,ENST00000609101.1
exon_skip_286754	17	12916523:12916592:12917755:12917813:12919084:12919149	12917755:12917813	ENSG00000006744.14	ENST00000484122.1,ENST00000338034.4,ENST00000395962.2,ENST00000426905.3,ENST00000609345.1,ENST00000609101.1,ENST00000580504.1,ENST00000581499.2,ENST00000609757.1,ENST00000583371.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for ELAC2

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000338034	12897003	12897148	Frame-shift
ENST00000338034	12901728	12901825	Frame-shift
ENST00000338034	12905590	12905676	Frame-shift
ENST00000338034	12908305	12908418	Frame-shift
ENST00000338034	12913929	12913988	Frame-shift
ENST00000338034	12917755	12917813	Frame-shift
ENST00000338034	12906795	12906891	In-frame
ENST00000338034	12914979	12915099	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000338034	12897003	12897148	Frame-shift
ENST00000338034	12901728	12901825	Frame-shift
ENST00000338034	12905590	12905676	Frame-shift
ENST00000338034	12908305	12908418	Frame-shift
ENST00000338034	12913929	12913988	Frame-shift
ENST00000338034	12917755	12917813	Frame-shift
ENST00000338034	12906795	12906891	In-frame
ENST00000338034	12914979	12915099	In-frame

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Infer the effects of exon skipping event on protein functional features for ELAC2

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA 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
ENST00000338034	3165	826	12914979	12915099	800	919	186	226
ENST00000338034	3165	826	12906795	12906891	1224	1319	328	359

Loci of skipped exons in GTEx 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
ENST00000338034	3165	826	12914979	12915099	800	919	186	226
ENST00000338034	3165	826	12906795	12906891	1224	1319	328	359

Lost protein functional features of individual exon skipping events in TCGA.

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
Q9BQ52	186	226	1	372	Alternative sequence	ID=VSP_009168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BQ52	186	226	188	227	Alternative sequence	ID=VSP_043449;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BQ52	186	226	17	826	Chain	ID=PRO_0000155828;Note=Zinc phosphodiesterase ELAC protein 2
Q9BQ52	186	226	199	199	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9BQ52	186	226	208	208	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q9BQ52	186	226	212	212	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q9BQ52	186	226	211	211	Natural variant	ID=VAR_017425;Note=In HPC2. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11522646;Dbxref=dbSNP:rs148419785,PMID:11522646
Q9BQ52	186	226	217	217	Natural variant	ID=VAR_017426;Note=In HPC2%3B does not affect the enzymatic activity. S->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10986046,ECO:00002
Q9BQ52	328	359	1	372	Alternative sequence	ID=VSP_009168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BQ52	328	359	17	826	Chain	ID=PRO_0000155828;Note=Zinc phosphodiesterase ELAC protein 2

Lost protein functional features of individual exon skipping events in GTEx.

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
Q9BQ52	186	226	1	372	Alternative sequence	ID=VSP_009168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BQ52	186	226	188	227	Alternative sequence	ID=VSP_043449;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BQ52	186	226	17	826	Chain	ID=PRO_0000155828;Note=Zinc phosphodiesterase ELAC protein 2
Q9BQ52	186	226	199	199	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9BQ52	186	226	208	208	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q9BQ52	186	226	212	212	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q9BQ52	186	226	211	211	Natural variant	ID=VAR_017425;Note=In HPC2. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11522646;Dbxref=dbSNP:rs148419785,PMID:11522646
Q9BQ52	186	226	217	217	Natural variant	ID=VAR_017426;Note=In HPC2%3B does not affect the enzymatic activity. S->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10986046,ECO:00002
Q9BQ52	328	359	1	372	Alternative sequence	ID=VSP_009168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BQ52	328	359	17	826	Chain	ID=PRO_0000155828;Note=Zinc phosphodiesterase ELAC protein 2

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SNVs in the skipped exons for ELAC2

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_286727	12897004	12897148	12897057	12897057	Frame_Shift_Del	G	-	p.L734fs
SARC	TCGA-DX-A7EL-01	exon_skip_286737	12906796	12906891	12906831	12906832	Frame_Shift_Del	CA	-	p.V348fs
THYM	TCGA-4X-A9F9-01	exon_skip_286735	12905591	12905676	12905673	12905673	Nonsense_Mutation	C	A	p.E408X
SARC	TCGA-HB-A3L4-01	exon_skip_286754	12917756	12917813	12917814	12917814	Splice_Site	C	G	e5-1

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- 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
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12897004	12897148	12897079	12897079	Missense_Mutation	G	C	p.S726R
SNU1040_LARGE_INTESTINE	12897004	12897148	12897107	12897107	Missense_Mutation	G	A	p.A717V
SNU1040_LARGE_INTESTINE	12897004	12897148	12897126	12897126	Missense_Mutation	C	T	p.V711M
LXF289_LUNG	12901729	12901825	12901767	12901767	Missense_Mutation	C	T	p.M494I
OC316_OVARY	12901729	12901825	12901768	12901768	Missense_Mutation	A	G	p.M494T
OC314_OVARY	12901729	12901825	12901768	12901768	Missense_Mutation	A	G	p.M494T
NCIH630_LARGE_INTESTINE	12901729	12901825	12901823	12901823	Missense_Mutation	T	C	p.K476E
LC1F_LUNG	12905591	12905676	12905607	12905607	Missense_Mutation	T	A	p.R430W
KYSE510_OESOPHAGUS	12905591	12905676	12905613	12905613	Missense_Mutation	G	A	p.R428C
MEWO_SKIN	12905591	12905676	12905634	12905634	Missense_Mutation	A	C	p.C421G
MDAPCA2B_PROSTATE	12906796	12906891	12906866	12906866	Missense_Mutation	C	T	p.V337M
KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12906796	12906891	12906875	12906875	Missense_Mutation	C	T	p.D334N
NCIH441_LUNG	12914980	12915099	12915053	12915053	Missense_Mutation	C	A	p.R202S
SNU81_LARGE_INTESTINE	12917756	12917813	12917801	12917801	Missense_Mutation	C	T	p.E149K
SNGM_ENDOMETRIUM	12917756	12917813	12917804	12917804	Missense_Mutation	G	A	p.L148F
LNCAPCLONEFGC_PROSTATE	12913930	12913988	12913930	12913930	Splice_Site	C	A	p.K246N
NCIH441_LUNG	12917756	12917813	12917756	12917756	Splice_Site	C	G	p.A164P

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ELAC2

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	GBM	rs4792311	chr17:12915009	A/G	1.32e-07
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	CESC	rs4792311	chr17:12915009	A/G	8.49e-04
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	COAD	rs4792311	chr17:12915009	A/G	3.32e-15
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	BLCA	rs4792311	chr17:12915009	A/G	1.46e-09
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	BRCA	rs4792311	chr17:12915009	A/G	1.10e-30
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	KIRP	rs4792311	chr17:12915009	A/G	1.03e-11
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	KIRC	rs4792311	chr17:12915009	A/G	6.29e-19
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	LUAD	rs4792311	chr17:12915009	A/G	6.27e-09
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	LIHC	rs4792311	chr17:12915009	A/G	4.82e-05
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	LUSC	rs4792311	chr17:12915009	A/G	7.27e-19
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	READ	rs4792311	chr17:12915009	A/G	1.07e-04
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	PAAD	rs4792311	chr17:12915009	A/G	7.51e-04
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	PRAD	rs4792311	chr17:12915009	A/G	1.02e-07
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	TGCT	rs4792311	chr17:12915009	A/G	8.82e-05
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	STAD	rs4792311	chr17:12915009	A/G	1.96e-11
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	THCA	rs4792311	chr17:12915009	A/G	1.09e-16
exon_skip_286752	17	12913934:12913988:12914979:12915099:12916523:12916556	12914979:12915099	ENST00000584650.1,ENST00000484122.1,ENST00000609101.1,ENST00000609345.1,ENST00000395962.2,ENST00000338034.4	UVM	rs4792311	chr17:12915009	A/G	2.62e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ELAC2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ELAC2

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RelatedDrugs for ELAC2

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

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for ELAC2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ELAC2	C3539120	PROSTATE CANCER, HEREDITARY, 2	10	UNIPROT
ELAC2	C0033578	Prostatic Neoplasms	1	CTD_human
ELAC2	C3809526	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17	1	ORPHANET;UNIPROT

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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