ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ADAM10

Gene summary

Gene information	Gene symbol	ADAM10
	Gene ID	102
	Gene name	ADAM metallopeptidase domain 10
	Synonyms	AD10\|AD18\|CD156c\|CDw156\|HsT18717\|MADM\|RAK\|kuz
	Cytomap	15q21.3
	Type of gene	protein-coding
	Description	disintegrin and metalloproteinase domain-containing protein 10a disintegrin and metalloprotease domain 10kuzbanian protein homologmammalian disintegrin-metalloprotease
	Modification date	20180519
	UniProtAcc	O14672
	Context	PubMed: ADAM10 [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
ADAM10	GO:0006509	membrane protein ectodomain proteolysis	12714508\|17557115\|18355449\|18419754\|18676862\|19114711
ADAM10	GO:0007162	negative regulation of cell adhesion	12714508
ADAM10	GO:0034612	response to tumor necrosis factor	11831872
ADAM10	GO:0051089	constitutive protein ectodomain proteolysis	12714508

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Exon skipping events across known transcript of Ensembl for ADAM10 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 ADAM10

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 ADAM10

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_127595	15	58889662:58889840:58891796:58891923:58902495:58902716	58891796:58891923	ENSG00000137845.10	ENST00000260408.3,ENST00000396136.2,ENST00000396140.2,ENST00000482945.1
exon_skip_127597	15	58902495:58902716:58903197:58903306:58904006:58904190	58903197:58903306	ENSG00000137845.10	ENST00000260408.3,ENST00000396136.2,ENST00000396140.2,ENST00000470269.1
exon_skip_127598	15	58932975:58933159:58936084:58936177:58938253:58938403	58936084:58936177	ENSG00000137845.10	ENST00000260408.3,ENST00000396136.2
exon_skip_127601	15	58936084:58936177:58938253:58938403:58957295:58957396	58938253:58938403	ENSG00000137845.10	ENST00000260408.3,ENST00000396136.2
exon_skip_127602	15	58957380:58957396:58968341:58968492:58971322:58971481	58968341:58968492	ENSG00000137845.10	ENST00000396136.2
exon_skip_127603	15	58957380:58957396:58971322:58971481:58974394:58974513	58971322:58971481	ENSG00000137845.10	ENST00000260408.3,ENST00000558733.1,ENST00000497846.1
exon_skip_127607	15	58957380:58957396:58974394:58974513:59009775:59009926	58974394:58974513	ENSG00000137845.10	ENST00000439637.1
exon_skip_127608	15	58957380:58957396:58990478:58990603:59009775:59009926	58990478:58990603	ENSG00000137845.10	ENST00000558004.1
exon_skip_127611	15	58971357:58971481:58974394:58974513:59009775:59009926	58974394:58974513	ENSG00000137845.10	ENST00000260408.3,ENST00000558733.1,ENST00000497846.1
exon_skip_127614	15	58974450:58974513:58999505:58999579:59009775:59009926	58999505:58999579	ENSG00000137845.10	ENST00000561149.1
exon_skip_127615	15	58974450:58974513:59009775:59009926:59041678:59041793	59009775:59009926	ENSG00000137845.10	ENST00000558733.1,ENST00000439637.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ADAM10

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_127595	15	58889662:58889840:58891796:58891923:58902495:58902716	58891796:58891923	ENSG00000137845.10	ENST00000260408.3,ENST00000482945.1,ENST00000396136.2,ENST00000396140.2
exon_skip_127597	15	58902495:58902716:58903197:58903306:58904006:58904190	58903197:58903306	ENSG00000137845.10	ENST00000260408.3,ENST00000396136.2,ENST00000396140.2,ENST00000470269.1
exon_skip_127598	15	58932975:58933159:58936084:58936177:58938253:58938403	58936084:58936177	ENSG00000137845.10	ENST00000260408.3,ENST00000396136.2
exon_skip_127601	15	58936084:58936177:58938253:58938403:58957295:58957396	58938253:58938403	ENSG00000137845.10	ENST00000260408.3,ENST00000396136.2
exon_skip_127602	15	58957380:58957396:58968341:58968492:58971322:58971481	58968341:58968492	ENSG00000137845.10	ENST00000396136.2
exon_skip_127603	15	58957380:58957396:58971322:58971481:58974394:58974513	58971322:58971481	ENSG00000137845.10	ENST00000260408.3,ENST00000558733.1,ENST00000497846.1
exon_skip_127607	15	58957380:58957396:58974394:58974513:59009775:59009926	58974394:58974513	ENSG00000137845.10	ENST00000439637.1
exon_skip_127608	15	58957380:58957396:58990478:58990603:59009775:59009926	58990478:58990603	ENSG00000137845.10	ENST00000558004.1
exon_skip_127611	15	58971357:58971481:58974394:58974513:59009775:59009926	58974394:58974513	ENSG00000137845.10	ENST00000260408.3,ENST00000558733.1,ENST00000497846.1
exon_skip_127614	15	58974450:58974513:58999505:58999579:59009775:59009926	58999505:58999579	ENSG00000137845.10	ENST00000561149.1
exon_skip_127615	15	58974450:58974513:59009775:59009926:59041678:59041793	59009775:59009926	ENSG00000137845.10	ENST00000558733.1,ENST00000439637.1

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 ADAM10

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
ENST00000260408	58891796	58891923	Frame-shift
ENST00000260408	58903197	58903306	Frame-shift
ENST00000260408	58974394	58974513	Frame-shift
ENST00000260408	58936084	58936177	In-frame
ENST00000260408	58938253	58938403	In-frame
ENST00000260408	58971322	58971481	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
ENST00000260408	58891796	58891923	Frame-shift
ENST00000260408	58903197	58903306	Frame-shift
ENST00000260408	58974394	58974513	Frame-shift
ENST00000260408	58936084	58936177	In-frame
ENST00000260408	58938253	58938403	In-frame
ENST00000260408	58971322	58971481	In-frame

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Infer the effects of exon skipping event on protein functional features for ADAM10

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
ENST00000260408	5051	748	58971322	58971481	770	928	108	161
ENST00000260408	5051	748	58938253	58938403	1030	1179	195	245
ENST00000260408	5051	748	58936084	58936177	1180	1272	245	276

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
ENST00000260408	5051	748	58971322	58971481	770	928	108	161
ENST00000260408	5051	748	58938253	58938403	1030	1179	195	245
ENST00000260408	5051	748	58936084	58936177	1180	1272	245	276

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
O14672	108	161	19	319	Alternative sequence	ID=VSP_056401;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O14672	108	161	139	139	Natural variant	ID=VAR_070907;Note=In RAK. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23666529;Dbxref=dbSNP:rs483352912,PMID:23666529
O14672	108	161	20	213	Propeptide	ID=PRO_0000029066;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q10741
O14672	108	161	20	672	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14672	195	245	19	319	Alternative sequence	ID=VSP_056401;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O14672	195	245	219	228	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BE6
O14672	195	245	214	748	Chain	ID=PRO_0000029067;Note=Disintegrin and metalloproteinase domain-containing protein 10
O14672	195	245	222	313	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BDZ,ECO:0000244\|PDB:6BE6,ECO:0000269\|PubMed:29224781;Dbxref=PMID:29224781
O14672	195	245	220	456	Domain	Note=Peptidase M12B;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00276
O14672	195	245	230	236	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BE6
O14672	195	245	239	258	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BE6
O14672	195	245	20	213	Propeptide	ID=PRO_0000029066;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q10741
O14672	195	245	212	212	Sequence conflict	Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14672	195	245	213	214	Site	Note=Cleavage%3B by furin and PCSK7;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q10741
O14672	195	245	20	672	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14672	245	276	19	319	Alternative sequence	ID=VSP_056401;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O14672	245	276	269	277	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BE6
O14672	245	276	214	748	Chain	ID=PRO_0000029067;Note=Disintegrin and metalloproteinase domain-containing protein 10
O14672	245	276	222	313	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BDZ,ECO:0000244\|PDB:6BE6,ECO:0000269\|PubMed:29224781;Dbxref=PMID:29224781
O14672	245	276	220	456	Domain	Note=Peptidase M12B;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00276
O14672	245	276	267	267	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14672	245	276	239	258	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BE6
O14672	245	276	20	672	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
O14672	108	161	19	319	Alternative sequence	ID=VSP_056401;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O14672	108	161	139	139	Natural variant	ID=VAR_070907;Note=In RAK. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23666529;Dbxref=dbSNP:rs483352912,PMID:23666529
O14672	108	161	20	213	Propeptide	ID=PRO_0000029066;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q10741
O14672	108	161	20	672	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14672	195	245	19	319	Alternative sequence	ID=VSP_056401;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O14672	195	245	219	228	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BE6
O14672	195	245	214	748	Chain	ID=PRO_0000029067;Note=Disintegrin and metalloproteinase domain-containing protein 10
O14672	195	245	222	313	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BDZ,ECO:0000244\|PDB:6BE6,ECO:0000269\|PubMed:29224781;Dbxref=PMID:29224781
O14672	195	245	220	456	Domain	Note=Peptidase M12B;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00276
O14672	195	245	230	236	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BE6
O14672	195	245	239	258	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BE6
O14672	195	245	20	213	Propeptide	ID=PRO_0000029066;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q10741
O14672	195	245	212	212	Sequence conflict	Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14672	195	245	213	214	Site	Note=Cleavage%3B by furin and PCSK7;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q10741
O14672	195	245	20	672	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14672	245	276	19	319	Alternative sequence	ID=VSP_056401;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O14672	245	276	269	277	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BE6
O14672	245	276	214	748	Chain	ID=PRO_0000029067;Note=Disintegrin and metalloproteinase domain-containing protein 10
O14672	245	276	222	313	Disulfide bond	Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:6BDZ,ECO:0000244\|PDB:6BE6,ECO:0000269\|PubMed:29224781;Dbxref=PMID:29224781
O14672	245	276	220	456	Domain	Note=Peptidase M12B;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00276
O14672	245	276	267	267	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14672	245	276	239	258	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6BE6
O14672	245	276	20	672	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for ADAM10

- 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
STAD	TCGA-D7-A6EY-01	exon_skip_127615	59009776	59009926	59009803	59009803	Frame_Shift_Del	A	-	p.L60fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_127615	59009776	59009926	59009847	59009847	Frame_Shift_Del	T	-	p.K45fs
STAD	TCGA-MX-A5UJ-01	exon_skip_127615	59009776	59009926	59009847	59009847	Frame_Shift_Del	T	-	p.K45fs

- 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
HCC515_LUNG	58891797	58891923	58891903	58891903	Missense_Mutation	T	G	p.L682F
NCIH727_LUNG	58891797	58891923	58891913	58891913	Missense_Mutation	C	A	p.W679L
ONCODG1_OVARY	58903198	58903306	58903300	58903300	Missense_Mutation	C	T	p.A568T
NIHOVCAR3_OVARY	58903198	58903306	58903300	58903300	Missense_Mutation	C	T	p.A568T
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58936085	58936177	58936093	58936093	Missense_Mutation	G	A	p.R274C
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	58936085	58936177	58936102	58936102	Missense_Mutation	T	A	p.M271L
DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58936085	58936177	58936149	58936149	Missense_Mutation	G	T	p.T255K
HEC108_ENDOMETRIUM	58936085	58936177	58936162	58936162	Missense_Mutation	T	C	p.K251E
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58938254	58938403	58938324	58938324	Missense_Mutation	C	T	p.C222Y
JHUEM7_ENDOMETRIUM	58938254	58938403	58938331	58938331	Missense_Mutation	T	C	p.N220D
HCC2998_LARGE_INTESTINE	58971323	58971481	58971341	58971341	Missense_Mutation	A	C	p.Y156D
CW2_LARGE_INTESTINE	58971323	58971481	58971344	58971344	Missense_Mutation	T	C	p.I155V
BICR18_UPPER_AERODIGESTIVE_TRACT	58971323	58971481	58971364	58971364	Missense_Mutation	G	A	p.T148I
CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58971323	58971481	58971398	58971398	Missense_Mutation	C	T	p.V137I
OE19_OESOPHAGUS	58971323	58971481	58971398	58971398	Missense_Mutation	C	T	p.V137I
HCET_UPPER_AERODIGESTIVE_TRACT	58974395	58974513	58974401	58974401	Missense_Mutation	T	C	p.I107V
HCC2998_LARGE_INTESTINE	58974395	58974513	58974416	58974416	Missense_Mutation	T	G	p.I102L
MCC26_SKIN	58974395	58974513	58974455	58974455	Missense_Mutation	C	G	p.E89Q
CAR1_LARGE_INTESTINE	58974395	58974513	58974490	58974490	Missense_Mutation	C	G	p.R77T
NH12_AUTONOMIC_GANGLIA	58974395	58974513	58974491	58974491	Missense_Mutation	T	C	p.R77G
HT115_LARGE_INTESTINE	58974395	58974513	58974499	58974499	Missense_Mutation	C	T	p.R74Q
SW900_LUNG	59009776	59009926	59009822	59009822	Missense_Mutation	A	G	p.S54P
SW756_CERVIX	59009776	59009926	59009821	59009821	Nonsense_Mutation	G	C	p.S54*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADAM10

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 ADAM10

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADAM10

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RelatedDrugs for ADAM10

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 ADAM10

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ADAM10	C3810041	ALZHEIMER DISEASE 18	2	UNIPROT
ADAM10	C0406811	Reticulate acropigmentation of Kitamura	1	ORPHANET;UNIPROT
ADAM10	C1458155	Mammary Neoplasms	1	CTD_human

	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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