ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for HEXA

Gene summary

Gene information	Gene symbol	HEXA
	Gene ID	3073
	Gene name	hexosaminidase subunit alpha
	Synonyms	TSD
	Cytomap	15q23
	Type of gene	protein-coding
	Description	beta-hexosaminidase subunit alphaN-acetyl-beta-glucosaminidase subunit alphabeta-N-acetylhexosaminidase subunit alphahexosaminidase A (alpha polypeptide)hexosaminidase subunit A
	Modification date	20180519
	UniProtAcc	P06865
	Context	PubMed: HEXA [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
HEXA	GO:0006024	glycosaminoglycan biosynthetic process	25645918

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Exon skipping events across known transcript of Ensembl for HEXA 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 HEXA

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 HEXA

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_129005	15	72636266:72636481:72637786:72637891:72638575:72638666	72637786:72637891	ENSG00000213614.5	ENST00000567411.1,ENST00000268097.5,ENST00000566304.1
exon_skip_129012	15	72637799:72637891:72638575:72638666:72638867:72639051	72638575:72638666	ENSG00000213614.5	ENST00000567159.1,ENST00000567411.1,ENST00000268097.5,ENST00000566304.1
exon_skip_129016	15	72638643:72638666:72638867:72639051:72640026:72640099	72638867:72639051	ENSG00000213614.5	ENST00000567159.1,ENST00000567411.1,ENST00000268097.5,ENST00000566672.1,ENST00000429918.2,ENST00000566304.1
exon_skip_129019	15	72638575:72638666:72638867:72639051:72640388:72640471	72638867:72639051	ENSG00000213614.5	ENST00000569410.1
exon_skip_129022	15	72638575:72638666:72640026:72640099:72640388:72640471	72640026:72640099	ENSG00000213614.5	ENST00000568777.1
exon_skip_129030	15	72638867:72639051:72640026:72640099:72640388:72640471	72640026:72640099	ENSG00000213614.5	ENST00000567159.1,ENST00000567411.1,ENST00000268097.5,ENST00000566672.1,ENST00000429918.2,ENST00000566304.1
exon_skip_129034	15	72640428:72640475:72641419:72641600:72642858:72642991	72641419:72641600	ENSG00000213614.5	ENST00000567159.1,ENST00000568777.1,ENST00000567411.1,ENST00000569410.1,ENST00000268097.5,ENST00000457859.2,ENST00000566672.1,ENST00000429918.2,ENST00000566304.1,ENST00000567027.1
exon_skip_129038	15	72642920:72642991:72643473:72643575:72645408:72645519	72643473:72643575	ENSG00000213614.5	ENST00000567159.1,ENST00000568777.1,ENST00000567411.1,ENST00000569410.1,ENST00000268097.5,ENST00000457859.2,ENST00000566304.1,ENST00000567027.1
exon_skip_129039	15	72643473:72643575:72645408:72645519:72646031:72646078	72645408:72645519	ENSG00000213614.5	ENST00000567159.1,ENST00000568777.1,ENST00000569410.1,ENST00000268097.5,ENST00000457859.2,ENST00000566304.1,ENST00000567027.1
exon_skip_129040	15	72643473:72643575:72645408:72645519:72647899:72647965	72645408:72645519	ENSG00000213614.5	ENST00000567411.1,ENST00000568260.1
exon_skip_129047	15	72645408:72645519:72646031:72646078:72647899:72647965	72646031:72646078	ENSG00000213614.5	ENST00000567159.1,ENST00000569410.1,ENST00000268097.5,ENST00000457859.2,ENST00000566304.1,ENST00000567027.1
exon_skip_129052	15	72647899:72647965:72648250:72648317:72648865:72648958	72648250:72648317	ENSG00000213614.5	ENST00000568260.1
exon_skip_129055	15	72647899:72647965:72648865:72648958:72668060:72668172	72648865:72648958	ENSG00000213614.5	ENST00000563908.1,ENST00000569509.1,ENST00000567159.1,ENST00000567411.1,ENST00000569410.1,ENST00000457859.2,ENST00000566672.1,ENST00000429918.2,ENST00000567027.1
exon_skip_129056	15	72647899:72647965:72648865:72648991:72668060:72668172	72648865:72648991	ENSG00000213614.5	ENST00000566304.1
exon_skip_129060	15	72648865:72648958:72654716:72654807:72668060:72668172	72654716:72654807	ENSG00000213614.5	ENST00000563762.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for HEXA

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_129005	15	72636266:72636481:72637786:72637891:72638575:72638666	72637786:72637891	ENSG00000213614.5	ENST00000268097.5,ENST00000567411.1,ENST00000566304.1
exon_skip_129012	15	72637799:72637891:72638575:72638666:72638867:72639051	72638575:72638666	ENSG00000213614.5	ENST00000268097.5,ENST00000567411.1,ENST00000566304.1,ENST00000567159.1
exon_skip_129016	15	72638643:72638666:72638867:72639051:72640026:72640099	72638867:72639051	ENSG00000213614.5	ENST00000268097.5,ENST00000567411.1,ENST00000566304.1,ENST00000567159.1,ENST00000566672.1,ENST00000429918.2
exon_skip_129019	15	72638575:72638666:72638867:72639051:72640388:72640471	72638867:72639051	ENSG00000213614.5	ENST00000569410.1
exon_skip_129022	15	72638575:72638666:72640026:72640099:72640388:72640471	72640026:72640099	ENSG00000213614.5	ENST00000568777.1
exon_skip_129030	15	72638867:72639051:72640026:72640099:72640388:72640471	72640026:72640099	ENSG00000213614.5	ENST00000268097.5,ENST00000567411.1,ENST00000566304.1,ENST00000567159.1,ENST00000566672.1,ENST00000429918.2
exon_skip_129034	15	72640428:72640475:72641419:72641600:72642858:72642991	72641419:72641600	ENSG00000213614.5	ENST00000268097.5,ENST00000567411.1,ENST00000566304.1,ENST00000457859.2,ENST00000567027.1,ENST00000568777.1,ENST00000567159.1,ENST00000566672.1,ENST00000429918.2,ENST00000569410.1
exon_skip_129038	15	72642920:72642991:72643473:72643575:72645408:72645519	72643473:72643575	ENSG00000213614.5	ENST00000268097.5,ENST00000567411.1,ENST00000566304.1,ENST00000457859.2,ENST00000567027.1,ENST00000568777.1,ENST00000567159.1,ENST00000569410.1
exon_skip_129039	15	72643473:72643575:72645408:72645519:72646031:72646078	72645408:72645519	ENSG00000213614.5	ENST00000268097.5,ENST00000566304.1,ENST00000457859.2,ENST00000567027.1,ENST00000568777.1,ENST00000567159.1,ENST00000569410.1
exon_skip_129040	15	72643473:72643575:72645408:72645519:72647899:72647965	72645408:72645519	ENSG00000213614.5	ENST00000567411.1,ENST00000568260.1
exon_skip_129047	15	72645408:72645519:72646031:72646078:72647899:72647965	72646031:72646078	ENSG00000213614.5	ENST00000268097.5,ENST00000566304.1,ENST00000457859.2,ENST00000567027.1,ENST00000567159.1,ENST00000569410.1
exon_skip_129052	15	72647899:72647965:72648250:72648317:72648865:72648958	72648250:72648317	ENSG00000213614.5	ENST00000568260.1
exon_skip_129055	15	72647899:72647965:72648865:72648958:72668060:72668172	72648865:72648958	ENSG00000213614.5	ENST00000567411.1,ENST00000457859.2,ENST00000567027.1,ENST00000567159.1,ENST00000566672.1,ENST00000429918.2,ENST00000569410.1,ENST00000569509.1,ENST00000563908.1
exon_skip_129056	15	72647899:72647965:72648865:72648991:72668060:72668172	72648865:72648991	ENSG00000213614.5	ENST00000566304.1
exon_skip_129060	15	72648865:72648958:72654716:72654807:72668060:72668172	72654716:72654807	ENSG00000213614.5	ENST00000563762.1

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 HEXA

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
ENST00000268097	72638575	72638666	Frame-shift
ENST00000268097	72638867	72639051	Frame-shift
ENST00000268097	72640026	72640099	Frame-shift
ENST00000268097	72641419	72641600	Frame-shift
ENST00000268097	72646031	72646078	Frame-shift
ENST00000268097	72637786	72637891	In-frame
ENST00000268097	72643473	72643575	In-frame
ENST00000268097	72645408	72645519	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
ENST00000268097	72638575	72638666	Frame-shift
ENST00000268097	72638867	72639051	Frame-shift
ENST00000268097	72640026	72640099	Frame-shift
ENST00000268097	72641419	72641600	Frame-shift
ENST00000268097	72646031	72646078	Frame-shift
ENST00000268097	72637786	72637891	In-frame
ENST00000268097	72643473	72643575	In-frame
ENST00000268097	72645408	72645519	In-frame

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

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
ENST00000268097	2754	529	72645408	72645519	964	1074	153	190
ENST00000268097	2754	529	72643473	72643575	1075	1176	190	224
ENST00000268097	2754	529	72637786	72637891	1926	2030	474	508

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
ENST00000268097	2754	529	72645408	72645519	964	1074	153	190
ENST00000268097	2754	529	72643473	72643575	1075	1176	190	224
ENST00000268097	2754	529	72637786	72637891	1926	2030	474	508

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
P06865	153	190	1	192	Alternative sequence	ID=VSP_056657;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P06865	153	190	154	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	153	190	159	163	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	153	190	168	175	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	153	190	89	529	Chain	ID=PRO_0000011994;Note=Beta-hexosaminidase subunit alpha
P06865	153	190	157	157	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1533633,ECO:0000269\|PubMed:16698036,ECO:0000269\|PubMed:19159218;Dbxref=PMID:1533633,PMID:16698036,PMID:19159218
P06865	153	190	183	195	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	153	190	157	157	Mutagenesis	Note=No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain%3B when associated with Q-115 and Q-295. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1533633;Dbxref=PMID:1533633
P06865	153	190	166	166	Natural variant	ID=VAR_003205;Note=In GM2G1%3B late infantile. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8581357;Dbxref=PMID:8581357
P06865	153	190	170	170	Natural variant	ID=VAR_003206;Note=In GM2G1%3B infantile%3B inactive or unstable protein. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9338583;Dbxref=dbSNP:rs121907957,PMID:9338583
P06865	153	190	170	170	Natural variant	ID=VAR_003207;Note=In GM2G1%3B infantile. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1302612,ECO:0000269\|PubMed:22723944;Dbxref=dbSNP:rs121907972,PMID:1302612,PMID:22723944
P06865	153	190	178	178	Natural variant	ID=VAR_003208;Note=In GM2G1%3B infantile%3B inactive protein. R->C;Dbxref=dbSNP:rs121907953
P06865	153	190	178	178	Natural variant	ID=VAR_003209;Note=In GM2G1%3B infantile%3B inactive protein. R->H;Dbxref=dbSNP:rs28941770
P06865	153	190	178	178	Natural variant	ID=VAR_003210;Note=In GM2G1%3B infantile. R->L;Dbxref=dbSNP:rs28941770
P06865	153	190	180	180	Natural variant	ID=VAR_003211;Note=In GM2G1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8757036;Dbxref=dbSNP:rs28941771,PMID:8757036
P06865	153	190	176	178	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	190	224	1	192	Alternative sequence	ID=VSP_056657;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P06865	190	224	200	204	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	190	224	216	218	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GK1
P06865	190	224	89	529	Chain	ID=PRO_0000011994;Note=Beta-hexosaminidase subunit alpha
P06865	190	224	183	195	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	190	224	220	225	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	190	224	192	192	Natural variant	ID=VAR_003212;Note=In GM2G1%3B infantile. V->L;Dbxref=dbSNP:rs387906310
P06865	190	224	196	196	Natural variant	ID=VAR_003213;Note=In GM2G1. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7717398;Dbxref=dbSNP:rs753862880,PMID:7717398
P06865	190	224	197	197	Natural variant	ID=VAR_003214;Note=In GM2G1. K->T;Dbxref=dbSNP:rs121907973
P06865	190	224	200	200	Natural variant	ID=VAR_003215;Note=In GM2G1. V->M;Dbxref=dbSNP:rs1800429
P06865	190	224	204	204	Natural variant	ID=VAR_003216;Note=In GM2G1%3B infantile. H->R;Dbxref=dbSNP:rs121907976
P06865	190	224	210	210	Natural variant	ID=VAR_003217;Note=In GM2G1%3B infantile. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1837283;Dbxref=dbSNP:rs121907961,PMID:1837283
P06865	190	224	211	211	Natural variant	ID=VAR_003218;Note=In GM2G1%3B infantile. F->S;Dbxref=dbSNP:rs121907974
P06865	474	508	361	529	Alternative sequence	ID=VSP_056659;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P06865	474	508	89	529	Chain	ID=PRO_0000011994;Note=Beta-hexosaminidase subunit alpha
P06865	474	508	505	522	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16698036;Dbxref=PMID:16698036
P06865	474	508	476	485	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	474	508	493	509	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	474	508	474	474	Natural variant	ID=VAR_003239;Note=In GM2G1%3B subacute. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9603435;Dbxref=dbSNP:rs121907981,PMID:9603435
P06865	474	508	478	478	Natural variant	ID=VAR_077502;Note=In GM2G1. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22723944;Dbxref=dbSNP:rs1057519467,PMID:22723944
P06865	474	508	482	482	Natural variant	ID=VAR_003240;Note=In GM2G1%3B infantile%3B loss of processing to a mature form%3B increased degradation. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:27682588,ECO:0000269\|PubMed:2970528,ECO:0000269\|PubMed:9338583;Dbx
P06865	474	508	484	484	Natural variant	ID=VAR_003241;Note=In GM2G1%3B infantile. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7837766;Dbxref=PMID:7837766
P06865	474	508	485	485	Natural variant	ID=VAR_003242;Note=In GM2G1%3B infantile. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1301190;Dbxref=dbSNP:rs121907968,PMID:1301190
P06865	474	508	499	499	Natural variant	ID=VAR_003243;Note=In GM2G1%3B infantile. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14566483;Dbxref=dbSNP:rs121907966,PMID:14566483
P06865	474	508	499	499	Natural variant	ID=VAR_003244;Note=In GM2G1%3B juvenile. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14566483;Dbxref=dbSNP:rs121907956,PMID:14566483
P06865	474	508	504	504	Natural variant	ID=VAR_003245;Note=In GM2G1%3B infantile. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1837283;Dbxref=dbSNP:rs28942071,PMID:1837283
P06865	474	508	504	504	Natural variant	ID=VAR_003246;Note=In GM2G1%3B juvenile%3B fails to associate with the beta-subunit to form the enzymatically active heterodimer. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2140574;Dbxref=dbSNP:rs121907955,PMID:2140574

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
P06865	153	190	1	192	Alternative sequence	ID=VSP_056657;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P06865	153	190	154	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	153	190	159	163	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	153	190	168	175	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	153	190	89	529	Chain	ID=PRO_0000011994;Note=Beta-hexosaminidase subunit alpha
P06865	153	190	157	157	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1533633,ECO:0000269\|PubMed:16698036,ECO:0000269\|PubMed:19159218;Dbxref=PMID:1533633,PMID:16698036,PMID:19159218
P06865	153	190	183	195	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	153	190	157	157	Mutagenesis	Note=No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain%3B when associated with Q-115 and Q-295. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1533633;Dbxref=PMID:1533633
P06865	153	190	166	166	Natural variant	ID=VAR_003205;Note=In GM2G1%3B late infantile. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8581357;Dbxref=PMID:8581357
P06865	153	190	170	170	Natural variant	ID=VAR_003206;Note=In GM2G1%3B infantile%3B inactive or unstable protein. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9338583;Dbxref=dbSNP:rs121907957,PMID:9338583
P06865	153	190	170	170	Natural variant	ID=VAR_003207;Note=In GM2G1%3B infantile. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:1302612,ECO:0000269\|PubMed:22723944;Dbxref=dbSNP:rs121907972,PMID:1302612,PMID:22723944
P06865	153	190	178	178	Natural variant	ID=VAR_003208;Note=In GM2G1%3B infantile%3B inactive protein. R->C;Dbxref=dbSNP:rs121907953
P06865	153	190	178	178	Natural variant	ID=VAR_003209;Note=In GM2G1%3B infantile%3B inactive protein. R->H;Dbxref=dbSNP:rs28941770
P06865	153	190	178	178	Natural variant	ID=VAR_003210;Note=In GM2G1%3B infantile. R->L;Dbxref=dbSNP:rs28941770
P06865	153	190	180	180	Natural variant	ID=VAR_003211;Note=In GM2G1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8757036;Dbxref=dbSNP:rs28941771,PMID:8757036
P06865	153	190	176	178	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	190	224	1	192	Alternative sequence	ID=VSP_056657;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P06865	190	224	200	204	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	190	224	216	218	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GK1
P06865	190	224	89	529	Chain	ID=PRO_0000011994;Note=Beta-hexosaminidase subunit alpha
P06865	190	224	183	195	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	190	224	220	225	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	190	224	192	192	Natural variant	ID=VAR_003212;Note=In GM2G1%3B infantile. V->L;Dbxref=dbSNP:rs387906310
P06865	190	224	196	196	Natural variant	ID=VAR_003213;Note=In GM2G1. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7717398;Dbxref=dbSNP:rs753862880,PMID:7717398
P06865	190	224	197	197	Natural variant	ID=VAR_003214;Note=In GM2G1. K->T;Dbxref=dbSNP:rs121907973
P06865	190	224	200	200	Natural variant	ID=VAR_003215;Note=In GM2G1. V->M;Dbxref=dbSNP:rs1800429
P06865	190	224	204	204	Natural variant	ID=VAR_003216;Note=In GM2G1%3B infantile. H->R;Dbxref=dbSNP:rs121907976
P06865	190	224	210	210	Natural variant	ID=VAR_003217;Note=In GM2G1%3B infantile. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1837283;Dbxref=dbSNP:rs121907961,PMID:1837283
P06865	190	224	211	211	Natural variant	ID=VAR_003218;Note=In GM2G1%3B infantile. F->S;Dbxref=dbSNP:rs121907974
P06865	474	508	361	529	Alternative sequence	ID=VSP_056659;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P06865	474	508	89	529	Chain	ID=PRO_0000011994;Note=Beta-hexosaminidase subunit alpha
P06865	474	508	505	522	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16698036;Dbxref=PMID:16698036
P06865	474	508	476	485	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	474	508	493	509	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GJX
P06865	474	508	474	474	Natural variant	ID=VAR_003239;Note=In GM2G1%3B subacute. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9603435;Dbxref=dbSNP:rs121907981,PMID:9603435
P06865	474	508	478	478	Natural variant	ID=VAR_077502;Note=In GM2G1. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22723944;Dbxref=dbSNP:rs1057519467,PMID:22723944
P06865	474	508	482	482	Natural variant	ID=VAR_003240;Note=In GM2G1%3B infantile%3B loss of processing to a mature form%3B increased degradation. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:27682588,ECO:0000269\|PubMed:2970528,ECO:0000269\|PubMed:9338583;Dbx
P06865	474	508	484	484	Natural variant	ID=VAR_003241;Note=In GM2G1%3B infantile. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7837766;Dbxref=PMID:7837766
P06865	474	508	485	485	Natural variant	ID=VAR_003242;Note=In GM2G1%3B infantile. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1301190;Dbxref=dbSNP:rs121907968,PMID:1301190
P06865	474	508	499	499	Natural variant	ID=VAR_003243;Note=In GM2G1%3B infantile. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14566483;Dbxref=dbSNP:rs121907966,PMID:14566483
P06865	474	508	499	499	Natural variant	ID=VAR_003244;Note=In GM2G1%3B juvenile. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14566483;Dbxref=dbSNP:rs121907956,PMID:14566483
P06865	474	508	504	504	Natural variant	ID=VAR_003245;Note=In GM2G1%3B infantile. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1837283;Dbxref=dbSNP:rs28942071,PMID:1837283
P06865	474	508	504	504	Natural variant	ID=VAR_003246;Note=In GM2G1%3B juvenile%3B fails to associate with the beta-subunit to form the enzymatically active heterodimer. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2140574;Dbxref=dbSNP:rs121907955,PMID:2140574

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SNVs in the skipped exons for HEXA

- 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_129012	72638576	72638666	72638615	72638615	Frame_Shift_Del	C	-	p.G461fs
LIHC	TCGA-BC-A3KG-01	exon_skip_129038	72643474	72643575	72643520	72643520	Frame_Shift_Del	G	-	p.P209fs
KICH	TCGA-KN-8418-01	exon_skip_129022 exon_skip_129030	72640027	72640099	72640036	72640037	Frame_Shift_Ins	-	T	p.N379fs
UCEC	TCGA-AP-A059-01	exon_skip_129012	72638576	72638666	72638616	72638616	Nonsense_Mutation	C	A	p.G461*
LIHC	TCGA-DD-A3A1-01	exon_skip_129019 exon_skip_129016	72638868	72639051	72638893	72638893	Nonsense_Mutation	G	C	p.Y435X
LUSC	TCGA-18-5595-01	exon_skip_129038	72643474	72643575	72643537	72643537	Nonsense_Mutation	C	T	p.W203*
LIHC	TCGA-ES-A2HT-01	exon_skip_129038	72643474	72643575	72643538	72643538	Nonsense_Mutation	C	T	p.W203X

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-KN-8418-01
	Cancer type: KICH
	ESID: exon_skip_129030
	Skipped exon start: 72640027
	Skipped exon end: 72640099
	Mutation start: 72640036
	Mutation end: 72640037
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.N379fs
exon_skip_129022_KICH_TCGA-KN-8418-01.png
exon_skip_441729_KICH_TCGA-KN-8418-01.png

- 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
U87MG_CENTRAL_NERVOUS_SYSTEM	72638868	72639051	72638996	72638997	Frame_Shift_Del	AT	-	p.M401fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72637787	72637891	72637792	72637793	Frame_Shift_Ins	-	A	p.L507fs
MSTO211H_PLEURA	72637787	72637891	72637803	72637803	Missense_Mutation	G	A	p.R504C
HCC2998_LARGE_INTESTINE	72637787	72637891	72637803	72637803	Missense_Mutation	G	A	p.R504C
LXF289_LUNG	72637787	72637891	72637839	72637839	Missense_Mutation	C	G	p.D492H
TCCPAN2_PANCREAS	72637787	72637891	72637841	72637841	Missense_Mutation	G	T	p.S491Y
HEC108_ENDOMETRIUM	72637787	72637891	72637853	72637853	Missense_Mutation	T	C	p.N487S
YD15_SALIVARY_GLAND	72637787	72637891	72637863	72637863	Missense_Mutation	G	T	p.L484M
KYSE150_OESOPHAGUS	72637787	72637891	72637886	72637886	Missense_Mutation	C	G	p.R476T
LS411N_LARGE_INTESTINE	72638576	72638666	72638627	72638627	Missense_Mutation	G	A	p.A457V
MZ7MEL_SKIN	72638576	72638666	72638663	72638663	Missense_Mutation	G	A	p.T445I
RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72638868	72639051	72638891	72638891	Missense_Mutation	A	G	p.I436T
NCIH647_LUNG	72638868	72639051	72639038	72639038	Missense_Mutation	G	A	p.T387I
BICR18_UPPER_AERODIGESTIVE_TRACT	72640027	72640099	72640073	72640073	Missense_Mutation	C	T	p.G367D
BICR18_UPPER_AERODIGESTIVE_TRACT	72640027	72640099	72640079	72640079	Missense_Mutation	G	T	p.S365Y
BICR18_UPPER_AERODIGESTIVE_TRACT	72640027	72640099	72640080	72640080	Missense_Mutation	A	C	p.S365A
SNU283_LARGE_INTESTINE	72640027	72640099	72640089	72640089	Missense_Mutation	T	C	p.I362V
BB30HNC_UPPER_AERODIGESTIVE_TRACT	72643474	72643575	72643530	72643530	Missense_Mutation	C	T	p.V206I
BB30PBL_MATCHED_NORMAL_TISSUE	72643474	72643575	72643530	72643530	Missense_Mutation	C	T	p.V206I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72645409	72645519	72645422	72645422	Missense_Mutation	A	G	p.I186T
NCIH1155_LUNG	72645409	72645519	72645485	72645485	Missense_Mutation	G	A	p.P165L
RMGI_OVARY	72646032	72646078	72646063	72646063	Missense_Mutation	C	A	p.S143I
NY_BONE	72646032	72646078	72646063	72646063	Missense_Mutation	C	A	p.S143I
SNUC4_LARGE_INTESTINE	72648866	72648958	72648899	72648899	Missense_Mutation	T	C	p.N105D
SNUC4_LARGE_INTESTINE	72648866	72648991	72648899	72648899	Missense_Mutation	T	C	p.N105D
SH4_SKIN	72648866	72648958	72648953	72648953	Missense_Mutation	G	A	p.R87W
SH4_SKIN	72648866	72648991	72648953	72648953	Missense_Mutation	G	A	p.R87W
SNU1040_LARGE_INTESTINE	72638868	72639051	72639021	72639021	Nonsense_Mutation	G	A	p.R393*

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

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 HEXA

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

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RelatedDrugs for HEXA

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 HEXA

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
HEXA	C0039373	Tay-Sachs Disease	22	CTD_human;UNIPROT
HEXA	C3714756	Intellectual Disability	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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