ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ADAMTSL3

Gene summary

Gene information	Gene symbol	ADAMTSL3
	Gene ID	57188
	Gene name	ADAMTS like 3
	Synonyms	ADAMTSL-3
	Cytomap	15q25.2
	Type of gene	protein-coding
	Description	ADAMTS-like protein 3a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3punctin-2
	Modification date	20180522
	UniProtAcc	P82987
	Context	PubMed: ADAMTSL3 [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 ADAMTSL3 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 ADAMTSL3

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 ADAMTSL3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_124336	15	84373140:84373260:84442274:84442402:84473401:84473447	84442274:84442402	ENSG00000156218.8	ENST00000567476.1,ENST00000569510.1,ENST00000561483.1,ENST00000565653.1,ENST00000286744.5
exon_skip_124337	15	84473401:84473447:84488562:84488799:84506840:84506967	84488562:84488799	ENSG00000156218.8	ENST00000567476.1,ENST00000569510.1,ENST00000561483.1,ENST00000286744.5
exon_skip_124339	15	84506840:84506967:84527517:84527592:84539553:84539711	84527517:84527592	ENSG00000156218.8	ENST00000567476.1,ENST00000561483.1,ENST00000286744.5
exon_skip_124340	15	84539663:84539711:84553852:84553964:84558860:84558999	84553852:84553964	ENSG00000156218.8	ENST00000567476.1,ENST00000561483.1,ENST00000286744.5
exon_skip_124341	15	84568398:84568483:84581843:84582130:84592655:84592785	84581843:84582130	ENSG00000156218.8	ENST00000567476.1,ENST00000561483.1,ENST00000286744.5
exon_skip_124343	15	84611654:84611834:84639235:84639389:84651024:84651057	84639235:84639389	ENSG00000156218.8	ENST00000567476.1,ENST00000561483.1,ENST00000286744.5
exon_skip_124344	15	84659837:84659966:84683293:84683476:84685134:84685251	84683293:84683476	ENSG00000156218.8	ENST00000567476.1,ENST00000561483.1,ENST00000286744.5
exon_skip_124347	15	84683293:84683476:84685134:84685251:84690161:84690345	84685134:84685251	ENSG00000156218.8	ENST00000567476.1,ENST00000561483.1,ENST00000286744.5
exon_skip_124348	15	84700086:84700184:84705524:84705739:84706451:84708594	84705524:84705739	ENSG00000156218.8	ENST00000286744.5
exon_skip_124351	15	84700086:84700184:84705524:84705756:84706514:84708179	84705524:84705756	ENSG00000156218.8	ENST00000567476.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ADAMTSL3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_124337	15	84473401:84473447:84488562:84488799:84506840:84506967	84488562:84488799	ENSG00000156218.8	ENST00000286744.5,ENST00000567476.1,ENST00000569510.1,ENST00000561483.1
exon_skip_124339	15	84506840:84506967:84527517:84527592:84539553:84539711	84527517:84527592	ENSG00000156218.8	ENST00000286744.5,ENST00000567476.1,ENST00000561483.1
exon_skip_124340	15	84539663:84539711:84553852:84553964:84558860:84558999	84553852:84553964	ENSG00000156218.8	ENST00000286744.5,ENST00000567476.1,ENST00000561483.1
exon_skip_124341	15	84568398:84568483:84581843:84582130:84592655:84592785	84581843:84582130	ENSG00000156218.8	ENST00000286744.5,ENST00000567476.1,ENST00000561483.1
exon_skip_124343	15	84611654:84611834:84639235:84639389:84651024:84651057	84639235:84639389	ENSG00000156218.8	ENST00000286744.5,ENST00000567476.1,ENST00000561483.1
exon_skip_124344	15	84659837:84659966:84683293:84683476:84685134:84685251	84683293:84683476	ENSG00000156218.8	ENST00000286744.5,ENST00000567476.1,ENST00000561483.1
exon_skip_124347	15	84683293:84683476:84685134:84685251:84690161:84690345	84685134:84685251	ENSG00000156218.8	ENST00000286744.5,ENST00000567476.1,ENST00000561483.1
exon_skip_124348	15	84700086:84700184:84705524:84705739:84706451:84708594	84705524:84705739	ENSG00000156218.8	ENST00000286744.5
exon_skip_124351	15	84700086:84700184:84705524:84705756:84706514:84708179	84705524:84705756	ENSG00000156218.8	ENST00000567476.1

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 ADAMTSL3

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
ENST00000286744	84442274	84442402	Frame-shift
ENST00000286744	84553852	84553964	Frame-shift
ENST00000286744	84581843	84582130	Frame-shift
ENST00000286744	84639235	84639389	Frame-shift
ENST00000286744	84705524	84705739	Frame-shift
ENST00000286744	84488562	84488799	In-frame
ENST00000286744	84527517	84527592	In-frame
ENST00000286744	84683293	84683476	In-frame
ENST00000286744	84685134	84685251	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
ENST00000286744	84553852	84553964	Frame-shift
ENST00000286744	84581843	84582130	Frame-shift
ENST00000286744	84639235	84639389	Frame-shift
ENST00000286744	84705524	84705739	Frame-shift
ENST00000286744	84488562	84488799	In-frame
ENST00000286744	84527517	84527592	In-frame
ENST00000286744	84683293	84683476	In-frame
ENST00000286744	84685134	84685251	In-frame

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Infer the effects of exon skipping event on protein functional features for ADAMTSL3

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
ENST00000286744	7353	1691	84488562	84488799	588	824	121	200
ENST00000286744	7353	1691	84527517	84527592	952	1026	242	267
ENST00000286744	7353	1691	84683293	84683476	4198	4380	1324	1385
ENST00000286744	7353	1691	84685134	84685251	4381	4497	1385	1424

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
ENST00000286744	7353	1691	84488562	84488799	588	824	121	200
ENST00000286744	7353	1691	84527517	84527592	952	1026	242	267
ENST00000286744	7353	1691	84683293	84683476	4198	4380	1324	1385
ENST00000286744	7353	1691	84685134	84685251	4381	4497	1385	1424

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
P82987	121	200	27	1691	Chain	ID=PRO_0000249684;Note=ADAMTS-like protein 3
P82987	121	200	91	123	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P82987	121	200	75	124	Domain	Note=TSP type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00210
P82987	121	200	146	146	Natural variant	ID=VAR_027478;Note=H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs4483821,PMID:15489334
P82987	242	267	27	1691	Chain	ID=PRO_0000249684;Note=ADAMTS-like protein 3
P82987	242	267	265	265	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P82987	1324	1385	27	1691	Chain	ID=PRO_0000249684;Note=ADAMTS-like protein 3
P82987	1324	1385	1321	1367	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P82987	1324	1385	1296	1378	Domain	Note=Ig-like C2-type 3
P82987	1324	1385	1330	1330	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P82987	1324	1385	1343	1343	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P82987	1324	1385	1349	1349	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P82987	1324	1385	1356	1356	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P82987	1324	1385	1370	1370	Natural variant	ID=VAR_027483;Note=T->A;Dbxref=dbSNP:rs17158450
P82987	1385	1424	27	1691	Chain	ID=PRO_0000249684;Note=ADAMTS-like protein 3
P82987	1385	1424	1424	1482	Domain	Note=TSP type-1 8;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00210

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
P82987	121	200	27	1691	Chain	ID=PRO_0000249684;Note=ADAMTS-like protein 3
P82987	121	200	91	123	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P82987	121	200	75	124	Domain	Note=TSP type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00210
P82987	121	200	146	146	Natural variant	ID=VAR_027478;Note=H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs4483821,PMID:15489334
P82987	242	267	27	1691	Chain	ID=PRO_0000249684;Note=ADAMTS-like protein 3
P82987	242	267	265	265	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P82987	1324	1385	27	1691	Chain	ID=PRO_0000249684;Note=ADAMTS-like protein 3
P82987	1324	1385	1321	1367	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P82987	1324	1385	1296	1378	Domain	Note=Ig-like C2-type 3
P82987	1324	1385	1330	1330	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P82987	1324	1385	1343	1343	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P82987	1324	1385	1349	1349	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P82987	1324	1385	1356	1356	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P82987	1324	1385	1370	1370	Natural variant	ID=VAR_027483;Note=T->A;Dbxref=dbSNP:rs17158450
P82987	1385	1424	27	1691	Chain	ID=PRO_0000249684;Note=ADAMTS-like protein 3
P82987	1385	1424	1424	1482	Domain	Note=TSP type-1 8;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00210

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SNVs in the skipped exons for ADAMTSL3

- 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-DD-A39Y-01	exon_skip_124336	84442275	84442402	84442318	84442318	Frame_Shift_Del	G	-	p.W78fs
LIHC	TCGA-DD-A3A0-01	exon_skip_124336	84442275	84442402	84442359	84442359	Frame_Shift_Del	G	-	p.G94fs
LIHC	TCGA-DD-A3A0-01	exon_skip_124337	84488563	84488799	84488675	84488675	Frame_Shift_Del	C	-	p.A159fs
LIHC	TCGA-LG-A9QC-01	exon_skip_124343	84639236	84639389	84639347	84639347	Frame_Shift_Del	G	-	p.P867fs
LIHC	TCGA-DD-A3A0-01	exon_skip_124344	84683294	84683476	84683351	84683351	Frame_Shift_Del	T	-	p.V1344fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_124344	84683294	84683476	84683356	84683356	Frame_Shift_Del	T	-	p.L1347fs
LIHC	TCGA-DD-A1EG-01	exon_skip_124348	84705525	84705739	84705691	84705691	Frame_Shift_Del	A	-	p.K1643fs
LIHC	TCGA-DD-A1EG-01	exon_skip_124351	84705525	84705756	84705691	84705691	Frame_Shift_Del	A	-	p.K1643fs
LIHC	TCGA-DD-A3A0-01	exon_skip_124348	84705525	84705739	84705691	84705691	Frame_Shift_Del	A	-	p.K1643fs
LIHC	TCGA-DD-A3A0-01	exon_skip_124351	84705525	84705756	84705691	84705691	Frame_Shift_Del	A	-	p.K1643fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_124351	84705525	84705756	84705752	84705752	Frame_Shift_Del	C	-	p.S1661fs
LUAD	TCGA-95-7043-01	exon_skip_124336	84442275	84442402	84442319	84442319	Nonsense_Mutation	G	A	p.W78*
COAD	TCGA-F4-6569-01	exon_skip_124339	84527518	84527592	84527523	84527523	Nonsense_Mutation	G	T	p.E245X
BLCA	TCGA-YF-AA3L-01	exon_skip_124340	84553853	84553964	84553886	84553886	Nonsense_Mutation	C	T	p.Q332*
SKCM	TCGA-FW-A3R5-06	exon_skip_124340	84553853	84553964	84553916	84553916	Nonsense_Mutation	C	T	p.Q342*
SKCM	TCGA-FW-A3R5-06	exon_skip_124340	84553853	84553964	84553916	84553916	Nonsense_Mutation	C	T	p.Q342X
KIRP	TCGA-B3-3925-01	exon_skip_124341	84581844	84582130	84581896	84581896	Nonsense_Mutation	C	T	p.Q585*
KIRP	TCGA-B3-3925-01	exon_skip_124341	84581844	84582130	84581896	84581896	Nonsense_Mutation	C	T	p.Q585X
BLCA	TCGA-BT-A42C-01	exon_skip_124341	84581844	84582130	84581959	84581959	Nonsense_Mutation	G	T	p.E606*
LUAD	TCGA-44-7670-01	exon_skip_124341	84581844	84582130	84582127	84582127	Nonsense_Mutation	G	T	p.G662*
SKCM	TCGA-GF-A6C9-06	exon_skip_124343	84639236	84639389	84639263	84639263	Nonsense_Mutation	C	T	p.Q840*
SKCM	TCGA-GF-A6C9-06	exon_skip_124343	84639236	84639389	84639263	84639263	Nonsense_Mutation	C	T	p.Q840X
BRCA	TCGA-AO-A124-01	exon_skip_124343	84639236	84639389	84639385	84639385	Nonsense_Mutation	C	A	p.C880*
SKCM	TCGA-WE-A8K6-06	exon_skip_124347	84685135	84685251	84685194	84685194	Nonsense_Mutation	C	T	p.Q1406*
STAD	TCGA-BR-8680-01	exon_skip_124336	84442275	84442402	84442274	84442274	Splice_Site	G	T	.
STAD	TCGA-BR-8680-01	exon_skip_124336	84442275	84442402	84442274	84442274	Splice_Site	G	T	p.T64_splice
LUAD	TCGA-55-1592-01	exon_skip_124344	84683294	84683476	84683293	84683294	Splice_Site	GG	TT	p.G1325_splice

- 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
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	84527518	84527592	84527521	84527521	Frame_Shift_Del	A	-	p.E245fs
TM31_CENTRAL_NERVOUS_SYSTEM	84442275	84442402	84442298	84442298	Missense_Mutation	T	G	p.D71E
786O_KIDNEY	84488563	84488799	84488567	84488567	Missense_Mutation	G	T	p.C123F
RKO_LARGE_INTESTINE	84488563	84488799	84488674	84488674	Missense_Mutation	G	T	p.A159S
CALU6_LUNG	84553853	84553964	84553862	84553862	Missense_Mutation	A	C	p.T324P
RKO_LARGE_INTESTINE	84553853	84553964	84553878	84553878	Missense_Mutation	G	T	p.S329I
NCIH2087_LUNG	84553853	84553964	84553921	84553921	Missense_Mutation	G	C	p.W343C
TOV21G_OVARY	84553853	84553964	84553947	84553947	Missense_Mutation	C	T	p.T352I
NCIH2126_LUNG	84581844	84582130	84581861	84581861	Missense_Mutation	G	T	p.W573L
NCIH1435_LUNG	84581844	84582130	84581882	84581882	Missense_Mutation	G	A	p.C580Y
EN_ENDOMETRIUM	84581844	84582130	84581912	84581912	Missense_Mutation	A	G	p.K590R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	84581844	84582130	84581917	84581917	Missense_Mutation	C	T	p.R592C
SCLC22H_LUNG	84581844	84582130	84581936	84581936	Missense_Mutation	C	T	p.T598M
HEC59_ENDOMETRIUM	84581844	84582130	84581936	84581936	Missense_Mutation	C	T	p.T598M
SCLC21H_LUNG	84581844	84582130	84581936	84581936	Missense_Mutation	C	T	p.T598M
CORL23_LUNG	84581844	84582130	84581956	84581956	Missense_Mutation	C	T	p.P605S
LC1F_LUNG	84581844	84582130	84582021	84582021	Missense_Mutation	T	A	p.D626E
LC1SQSF_LUNG	84581844	84582130	84582021	84582021	Missense_Mutation	T	A	p.D626E
LC1SQ_LUNG	84581844	84582130	84582021	84582021	Missense_Mutation	T	A	p.D626E
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	84581844	84582130	84582023	84582023	Missense_Mutation	A	G	p.E627G
MZ7MEL_SKIN	84581844	84582130	84582040	84582040	Missense_Mutation	G	A	p.E633K
DMS53_LUNG	84581844	84582130	84582106	84582106	Missense_Mutation	C	A	p.P655T
BICR18_UPPER_AERODIGESTIVE_TRACT	84683294	84683476	84683311	84683311	Missense_Mutation	A	G	p.I1331V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	84683294	84683476	84683311	84683311	Missense_Mutation	A	G	p.I1331V
AU565_BREAST	84683294	84683476	84683332	84683332	Missense_Mutation	G	C	p.G1338R
NCIH358_LUNG	84683294	84683476	84683338	84683338	Missense_Mutation	C	G	p.L1340V
BICR18_UPPER_AERODIGESTIVE_TRACT	84683294	84683476	84683345	84683345	Missense_Mutation	G	A	p.G1342D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	84683294	84683476	84683345	84683345	Missense_Mutation	G	A	p.G1342D
HEC251_ENDOMETRIUM	84683294	84683476	84683353	84683353	Missense_Mutation	T	G	p.S1345A
201T_LUNG	84683294	84683476	84683402	84683402	Missense_Mutation	A	G	p.N1361S
SHP77_LUNG	84683294	84683476	84683464	84683464	Missense_Mutation	C	A	p.L1382I
HELA_CERVIX	84685135	84685251	84685157	84685157	Missense_Mutation	A	C	p.R1393S
LS513_LARGE_INTESTINE	84685135	84685251	84685213	84685213	Missense_Mutation	C	A	p.T1412N
HCC1588_LUNG	84685135	84685251	84685213	84685213	Missense_Mutation	C	A	p.T1412N
HCT15_LARGE_INTESTINE	84705525	84705739	84705553	84705553	Missense_Mutation	G	T	p.G1595W
HCT15_LARGE_INTESTINE	84705525	84705756	84705553	84705553	Missense_Mutation	G	T	p.G1595W
HRT18_LARGE_INTESTINE	84705525	84705739	84705553	84705553	Missense_Mutation	G	T	p.G1595W
HRT18_LARGE_INTESTINE	84705525	84705756	84705553	84705553	Missense_Mutation	G	T	p.G1595W
HDQP1_BREAST	84705525	84705739	84705596	84705596	Missense_Mutation	G	A	p.C1609Y
HDQP1_BREAST	84705525	84705756	84705596	84705596	Missense_Mutation	G	A	p.C1609Y
SNU719_STOMACH	84705525	84705739	84705628	84705628	Missense_Mutation	C	T	p.R1620W
SNU719_STOMACH	84705525	84705756	84705628	84705628	Missense_Mutation	C	T	p.R1620W
CAL148_BREAST	84705525	84705739	84705661	84705661	Missense_Mutation	A	G	p.K1631E
CAL148_BREAST	84705525	84705756	84705661	84705661	Missense_Mutation	A	G	p.K1631E
HCC1395_BREAST	84705525	84705739	84705703	84705703	Missense_Mutation	A	T	p.I1645F
HCC1395_BREAST	84705525	84705756	84705703	84705703	Missense_Mutation	A	T	p.I1645F
NCIH650_LUNG	84442275	84442402	84442362	84442362	Nonsense_Mutation	G	T	p.G93*
SISO_CERVIX	84488563	84488799	84488656	84488656	Nonsense_Mutation	C	T	p.R153*
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	84488563	84488799	84488656	84488656	Nonsense_Mutation	C	T	p.R153*
SW1271_LUNG	84527518	84527592	84527577	84527577	Nonsense_Mutation	G	T	p.G263*
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	84581844	84582130	84581896	84581896	Nonsense_Mutation	C	T	p.Q585*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADAMTSL3

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

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADAMTSL3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADAMTSL3

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RelatedDrugs for ADAMTSL3

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 ADAMTSL3

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ADAMTSL3	C0036341	Schizophrenia	1	PSYGENET

	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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