ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for AASS

Gene summary

Gene information	Gene symbol	AASS
	Gene ID	10157
	Gene name	aminoadipate-semialdehyde synthase
	Synonyms	LKR/SDH\|LKRSDH\|LORSDH
	Cytomap	7q31.32
	Type of gene	protein-coding
	Description	alpha-aminoadipic semialdehyde synthase, mitochondrialalpha-aminoadipate semialdehyde synthaseaminoadipic semialdehyde synthaselysine-2-oxoglutarate reductaselysine-ketoglutarate reductase /saccharopine dehydrogenase
	Modification date	20180523
	UniProtAcc	Q9UDR5
	Context	PubMed: AASS [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 AASS 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 AASS

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 AASS

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_479252	7	121717891:121718068:121718915:121719004:121719650:121719744	121718915:121719004	ENSG00000008311.10	ENST00000417368.2,ENST00000473553.1,ENST00000431170.1,ENST00000358954.2,ENST00000393376.1
exon_skip_479253	7	121718915:121719004:121719202:121719381:121719650:121719744	121719202:121719381	ENSG00000008311.10	ENST00000426162.1
exon_skip_479254	7	121719650:121719766:121721553:121721649:121726065:121726207	121721553:121721649	ENSG00000008311.10	ENST00000417368.2,ENST00000473553.1,ENST00000393376.1
exon_skip_479256	7	121721553:121721649:121722841:121722945:121726065:121726169	121722841:121722945	ENSG00000008311.10	ENST00000358954.2
exon_skip_479259	7	121721553:121721649:121726065:121726233:121731756:121731897	121726065:121726233	ENSG00000008311.10	ENST00000417368.2,ENST00000473553.1,ENST00000393376.1
exon_skip_479261	7	121722841:121722945:121726065:121726233:121731756:121731897	121726065:121726233	ENSG00000008311.10	ENST00000358954.2
exon_skip_479262	7	121738503:121738630:121738798:121738920:121741424:121741492	121738798:121738920	ENSG00000008311.10	ENST00000417368.2,ENST00000358954.2,ENST00000393376.1
exon_skip_479265	7	121738503:121738630:121738802:121738920:121741424:121741492	121738802:121738920	ENSG00000008311.10	ENST00000431170.1
exon_skip_479268	7	121738503:121738630:121741424:121741492:121741674:121741734	121741424:121741492	ENSG00000008311.10	ENST00000473553.1
exon_skip_479269	7	121738802:121738920:121741424:121741492:121741674:121741734	121741424:121741492	ENSG00000008311.10	ENST00000417368.2,ENST00000431170.1,ENST00000358954.2,ENST00000393376.1
exon_skip_479270	7	121753651:121753774:121755127:121755276:121756686:121756814	121755127:121755276	ENSG00000008311.10	ENST00000417368.2,ENST00000431170.1,ENST00000358954.2,ENST00000393376.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for AASS

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_479252	7	121717891:121718068:121718915:121719004:121719650:121719744	121718915:121719004	ENSG00000008311.10	ENST00000393376.1,ENST00000473553.1,ENST00000417368.2,ENST00000431170.1,ENST00000358954.2
exon_skip_479253	7	121718915:121719004:121719202:121719381:121719650:121719744	121719202:121719381	ENSG00000008311.10	ENST00000426162.1
exon_skip_479254	7	121719650:121719766:121721553:121721649:121726065:121726207	121721553:121721649	ENSG00000008311.10	ENST00000393376.1,ENST00000473553.1,ENST00000417368.2
exon_skip_479256	7	121721553:121721649:121722841:121722945:121726065:121726169	121722841:121722945	ENSG00000008311.10	ENST00000358954.2
exon_skip_479259	7	121721553:121721649:121726065:121726233:121731756:121731897	121726065:121726233	ENSG00000008311.10	ENST00000393376.1,ENST00000473553.1,ENST00000417368.2
exon_skip_479261	7	121722841:121722945:121726065:121726233:121731756:121731897	121726065:121726233	ENSG00000008311.10	ENST00000358954.2
exon_skip_479262	7	121738503:121738630:121738798:121738920:121741424:121741492	121738798:121738920	ENSG00000008311.10	ENST00000393376.1,ENST00000417368.2,ENST00000358954.2
exon_skip_479265	7	121738503:121738630:121738802:121738920:121741424:121741492	121738802:121738920	ENSG00000008311.10	ENST00000431170.1
exon_skip_479268	7	121738503:121738630:121741424:121741492:121741674:121741734	121741424:121741492	ENSG00000008311.10	ENST00000473553.1
exon_skip_479269	7	121738802:121738920:121741424:121741492:121741674:121741734	121741424:121741492	ENSG00000008311.10	ENST00000393376.1,ENST00000417368.2,ENST00000431170.1,ENST00000358954.2
exon_skip_479270	7	121753651:121753774:121755127:121755276:121756686:121756814	121755127:121755276	ENSG00000008311.10	ENST00000393376.1,ENST00000417368.2,ENST00000431170.1,ENST00000358954.2

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 AASS

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
ENST00000393376	121718915	121719004	Frame-shift
ENST00000417368	121718915	121719004	Frame-shift
ENST00000393376	121738798	121738920	Frame-shift
ENST00000417368	121738798	121738920	Frame-shift
ENST00000393376	121741424	121741492	Frame-shift
ENST00000417368	121741424	121741492	Frame-shift
ENST00000393376	121755127	121755276	Frame-shift
ENST00000417368	121755127	121755276	Frame-shift
ENST00000393376	121721553	121721649	In-frame
ENST00000417368	121721553	121721649	In-frame
ENST00000393376	121726065	121726233	In-frame
ENST00000417368	121726065	121726233	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
ENST00000393376	121718915	121719004	Frame-shift
ENST00000417368	121718915	121719004	Frame-shift
ENST00000393376	121738798	121738920	Frame-shift
ENST00000417368	121738798	121738920	Frame-shift
ENST00000393376	121741424	121741492	Frame-shift
ENST00000417368	121741424	121741492	Frame-shift
ENST00000393376	121755127	121755276	Frame-shift
ENST00000417368	121755127	121755276	Frame-shift
ENST00000393376	121721553	121721649	In-frame
ENST00000417368	121721553	121721649	In-frame
ENST00000393376	121726065	121726233	In-frame
ENST00000417368	121726065	121726233	In-frame

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

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
ENST00000393376	3250	926	121726065	121726233	2113	2280	672	728
ENST00000417368	3180	926	121726065	121726233	2152	2319	672	728
ENST00000393376	3250	926	121721553	121721649	2281	2376	728	760
ENST00000417368	3180	926	121721553	121721649	2320	2415	728	760

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
ENST00000393376	3250	926	121726065	121726233	2113	2280	672	728
ENST00000417368	3180	926	121726065	121726233	2152	2319	672	728
ENST00000393376	3250	926	121721553	121721649	2281	2376	728	760
ENST00000417368	3180	926	121721553	121721649	2320	2415	728	760

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
Q9UDR5	672	728	672	676	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	672	676	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	687	689	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	687	689	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	697	701	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	697	701	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	703	705	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	703	705	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	718	727	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	718	727	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	703	703	Binding site	Note=Saccharopine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9P4R4
Q9UDR5	672	728	703	703	Binding site	Note=Saccharopine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9P4R4
Q9UDR5	672	728	33	926	Chain	ID=PRO_0000001052;Note=Alpha-aminoadipic semialdehyde synthase%2C mitochondrial
Q9UDR5	672	728	33	926	Chain	ID=PRO_0000001052;Note=Alpha-aminoadipic semialdehyde synthase%2C mitochondrial
Q9UDR5	672	728	679	685	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	679	685	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	708	712	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	708	712	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	707	707	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	672	728	707	707	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	672	728	477	926	Region	Note=Saccharopine dehydrogenase
Q9UDR5	672	728	477	926	Region	Note=Saccharopine dehydrogenase
Q9UDR5	672	728	724	726	Region	Note=Saccharopine binding;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9P4R4
Q9UDR5	672	728	724	726	Region	Note=Saccharopine binding;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9P4R4
Q9UDR5	728	760	33	926	Chain	ID=PRO_0000001052;Note=Alpha-aminoadipic semialdehyde synthase%2C mitochondrial
Q9UDR5	728	760	33	926	Chain	ID=PRO_0000001052;Note=Alpha-aminoadipic semialdehyde synthase%2C mitochondrial
Q9UDR5	728	760	730	740	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	728	760	730	740	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	728	760	760	768	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	728	760	760	768	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	728	760	732	732	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	728	760	732	732	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	728	760	739	739	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	728	760	739	739	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	728	760	477	926	Region	Note=Saccharopine dehydrogenase
Q9UDR5	728	760	477	926	Region	Note=Saccharopine dehydrogenase

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
Q9UDR5	672	728	672	676	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	672	676	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	687	689	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	687	689	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	697	701	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	697	701	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	703	705	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	703	705	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	718	727	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	718	727	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	703	703	Binding site	Note=Saccharopine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9P4R4
Q9UDR5	672	728	703	703	Binding site	Note=Saccharopine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9P4R4
Q9UDR5	672	728	33	926	Chain	ID=PRO_0000001052;Note=Alpha-aminoadipic semialdehyde synthase%2C mitochondrial
Q9UDR5	672	728	33	926	Chain	ID=PRO_0000001052;Note=Alpha-aminoadipic semialdehyde synthase%2C mitochondrial
Q9UDR5	672	728	679	685	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	679	685	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	708	712	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	708	712	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	672	728	707	707	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	672	728	707	707	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	672	728	477	926	Region	Note=Saccharopine dehydrogenase
Q9UDR5	672	728	477	926	Region	Note=Saccharopine dehydrogenase
Q9UDR5	672	728	724	726	Region	Note=Saccharopine binding;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9P4R4
Q9UDR5	672	728	724	726	Region	Note=Saccharopine binding;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9P4R4
Q9UDR5	728	760	33	926	Chain	ID=PRO_0000001052;Note=Alpha-aminoadipic semialdehyde synthase%2C mitochondrial
Q9UDR5	728	760	33	926	Chain	ID=PRO_0000001052;Note=Alpha-aminoadipic semialdehyde synthase%2C mitochondrial
Q9UDR5	728	760	730	740	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	728	760	730	740	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	728	760	760	768	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	728	760	760	768	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5O1P
Q9UDR5	728	760	732	732	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	728	760	732	732	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	728	760	739	739	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	728	760	739	739	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99K67
Q9UDR5	728	760	477	926	Region	Note=Saccharopine dehydrogenase
Q9UDR5	728	760	477	926	Region	Note=Saccharopine dehydrogenase

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SNVs in the skipped exons for AASS

- 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.

AASS_BRCA_exon_skip_479254_psi_boxplot.png
boxplot

- 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
COAD	TCGA-F4-6856-01	exon_skip_479259 exon_skip_479261	121726066	121726233	121726174	121726174	Frame_Shift_Del	A	-	p.P693fs
DLBC	TCGA-GS-A9TW-01	exon_skip_479259 exon_skip_479261	121726066	121726233	121726174	121726174	Frame_Shift_Del	A	-	p.P693fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_479259 exon_skip_479261	121726066	121726233	121726174	121726174	Frame_Shift_Del	A	-	p.F692fs
SKCM	TCGA-YD-A9TA-06	exon_skip_479269 exon_skip_479268	121741425	121741492	121741444	121741444	Nonsense_Mutation	G	A	p.Q463*
BRCA	TCGA-BH-A18Q-01	exon_skip_479254	121721554	121721649	121721545	121721553	Splice_Site	GTCACTCAC	-	e19+1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BH-A18Q-01
	Cancer type: BRCA
	ESID: exon_skip_479254
	Skipped exon start: 121721554
	Skipped exon end: 121721649
	Mutation start: 121721545
	Mutation end: 121721553
	Mutation type: Splice_Site
	Reference seq: GTCACTCAC
	Mutation seq: -
	AAchange: e19+1
exon_skip_286384_BRCA_TCGA-BH-A18Q-01.png
exon_skip_455061_BRCA_TCGA-BH-A18Q-01.png
exon_skip_479254_BRCA_TCGA-BH-A18Q-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
HEC151_ENDOMETRIUM	121726066	121726233	121726174	121726174	Frame_Shift_Del	A	-	p.F692fs
SNUC2A_LARGE_INTESTINE	121726066	121726233	121726174	121726174	Frame_Shift_Del	A	-	p.F692fs
SNUC2B_LARGE_INTESTINE	121726066	121726233	121726174	121726174	Frame_Shift_Del	A	-	p.F692fs
MELJUSO_SKIN	121718916	121719004	121718921	121718921	Missense_Mutation	G	A	p.S827F
GP2D_LARGE_INTESTINE	121721554	121721649	121721600	121721600	Missense_Mutation	C	T	p.R745K
GP5D_LARGE_INTESTINE	121721554	121721649	121721600	121721600	Missense_Mutation	C	T	p.R745K
HUH1_LIVER	121726066	121726233	121726098	121726098	Missense_Mutation	G	C	p.H718D
22RV1_PROSTATE	121726066	121726233	121726125	121726125	Missense_Mutation	C	T	p.A709T
SW684_SOFT_TISSUE	121726066	121726233	121726173	121726173	Missense_Mutation	G	A	p.P693S
MCC13_SKIN	121726066	121726233	121726208	121726208	Missense_Mutation	G	A	p.S681F
U2OS_BONE	121738803	121738920	121738856	121738856	Missense_Mutation	T	C	p.I491V
U2OS_BONE	121738799	121738920	121738856	121738856	Missense_Mutation	T	C	p.I491V
JHU028_LUNG	121738803	121738920	121738906	121738906	Missense_Mutation	G	A	p.S474L
JHU028_LUNG	121738799	121738920	121738906	121738906	Missense_Mutation	G	A	p.S474L
BECKER_CENTRAL_NERVOUS_SYSTEM	121741425	121741492	121741434	121741434	Missense_Mutation	C	T	p.R466Q
SNU719_STOMACH	121741425	121741492	121741440	121741440	Missense_Mutation	G	C	p.T464R
NCIH1944_LUNG	121741425	121741492	121741467	121741467	Missense_Mutation	A	G	p.L455S
HEC50B_ENDOMETRIUM	121741425	121741492	121741474	121741474	Missense_Mutation	C	G	p.G453R
H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	121755128	121755276	121755189	121755189	Missense_Mutation	G	A	p.L328F
HCC1359_LUNG	121755128	121755276	121755195	121755195	Missense_Mutation	G	C	p.Q326E
SW962_VULVA	121755128	121755276	121755206	121755206	Missense_Mutation	C	T	p.R322H
TGBC24TKB_BILIARY_TRACT	121755128	121755276	121755218	121755218	Missense_Mutation	C	T	p.R318H
BT474_BREAST	121755128	121755276	121755241	121755241	Missense_Mutation	G	C	p.I310M
NCIH2444_LUNG	121718916	121719004	121718916	121718916	Splice_Site	C	A	p.G829C
HEC265_ENDOMETRIUM	121726066	121726233	121726067	121726067	Splice_Site	T	C	p.K728R
MRKNU1_BREAST	121738803	121738920	121738799	121738799	Splice_Site	C	A	p.G510*
MRKNU1_BREAST	121738799	121738920	121738799	121738799	Splice_Site	C	A	p.G510*

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

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 AASS

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

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RelatedDrugs for AASS

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
	Q9UDR5	DB00142	Glutamic Acid	Alpha-aminoadipic semialdehyde synthase, mitochondrial	small molecule	approved\|nutraceutical

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RelatedDiseases for AASS

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 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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