ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ALDH1L1

Gene summary

Gene information	Gene symbol	ALDH1L1
	Gene ID	10840
	Gene name	aldehyde dehydrogenase 1 family member L1
	Synonyms	10-FTHFDH\|10-fTHF\|FDH\|FTHFD
	Cytomap	3q21.3
	Type of gene	protein-coding
	Description	cytosolic 10-formyltetrahydrofolate dehydrogenase10-formyltetrahydrofolate dehydrogenaseMER57B-ALDH1L1
	Modification date	20180523
	UniProtAcc	O75891
	Context	PubMed: ALDH1L1 [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 ALDH1L1 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 ALDH1L1

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 ALDH1L1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_387637	3	125831624:125831723:125833399:125833499:125836847:125836941	125833399:125833499	ENSG00000144908.9	ENST00000472186.1,ENST00000273450.3,ENST00000452905.2,ENST00000393434.2
exon_skip_387642	3	125831624:125831723:125836847:125836941:125843206:125843294	125836847:125836941	ENSG00000144908.9	ENST00000393431.2
exon_skip_387647	3	125836847:125836941:125843206:125843294:125844458:125844564	125843206:125843294	ENSG00000144908.9	ENST00000472186.1,ENST00000273450.3,ENST00000452905.2,ENST00000393431.2,ENST00000393434.2
exon_skip_387664	3	125844458:125844564:125849065:125849136:125854377:125854505	125849065:125849136	ENSG00000144908.9	ENST00000393431.2
exon_skip_387676	3	125849065:125849136:125850226:125850377:125854377:125854505	125850226:125850377	ENSG00000144908.9	ENST00000472186.1,ENST00000273450.3,ENST00000452905.2,ENST00000476245.1,ENST00000393434.2
exon_skip_387678	3	125854377:125854505:125855606:125855726:125856655:125856803	125855606:125855726	ENSG00000144908.9	ENST00000472186.1,ENST00000473607.1,ENST00000273450.3,ENST00000452905.2,ENST00000476245.1,ENST00000393431.2,ENST00000393434.2
exon_skip_387679	3	125855606:125855726:125856655:125856803:125865677:125865769	125856655:125856803	ENSG00000144908.9	ENST00000472186.1,ENST00000473607.1,ENST00000273450.3,ENST00000452905.2,ENST00000476245.1,ENST00000393431.2,ENST00000393434.2
exon_skip_387682	3	125865698:125865769:125869248:125869374:125872286:125872424	125869248:125869374	ENSG00000144908.9	ENST00000472186.1,ENST00000473607.1,ENST00000273450.3,ENST00000413612.1,ENST00000452905.2,ENST00000393431.2,ENST00000393434.2
exon_skip_387684	3	125865698:125865769:125869248:125869799:125872286:125872424	125869248:125869799	ENSG00000144908.9	ENST00000476245.1
exon_skip_387688	3	125869248:125869374:125872286:125872424:125873396:125873462	125872286:125872424	ENSG00000144908.9	ENST00000472186.1,ENST00000473607.1,ENST00000273450.3,ENST00000413612.1,ENST00000452905.2,ENST00000393431.2,ENST00000393434.2
exon_skip_387690	3	125873396:125873486:125874244:125874340:125876185:125876351	125874244:125874340	ENSG00000144908.9	ENST00000484724.1
exon_skip_387692	3	125873396:125873486:125874244:125874346:125876185:125876351	125874244:125874346	ENSG00000144908.9	ENST00000472186.1,ENST00000473607.1,ENST00000455064.2,ENST00000273450.3,ENST00000393431.2,ENST00000393434.2,ENST00000493803.1
exon_skip_387694	3	125876242:125876351:125877247:125877482:125879695:125879845	125877247:125877482	ENSG00000144908.9	ENST00000472186.1,ENST00000273450.3,ENST00000490367.1,ENST00000393431.2,ENST00000393434.2,ENST00000488356.1,ENST00000460368.1
exon_skip_387695	3	125877440:125877482:125878225:125878409:125879695:125879845	125878225:125878409	ENSG00000144908.9	ENST00000473607.1,ENST00000511283.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ALDH1L1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_387637	3	125831624:125831723:125833399:125833499:125836847:125836941	125833399:125833499	ENSG00000144908.9	ENST00000273450.3,ENST00000472186.1,ENST00000452905.2,ENST00000393434.2
exon_skip_387642	3	125831624:125831723:125836847:125836941:125843206:125843294	125836847:125836941	ENSG00000144908.9	ENST00000393431.2
exon_skip_387647	3	125836847:125836941:125843206:125843294:125844458:125844564	125843206:125843294	ENSG00000144908.9	ENST00000273450.3,ENST00000472186.1,ENST00000452905.2,ENST00000393434.2,ENST00000393431.2
exon_skip_387664	3	125844458:125844564:125849065:125849136:125854377:125854505	125849065:125849136	ENSG00000144908.9	ENST00000393431.2
exon_skip_387676	3	125849065:125849136:125850226:125850377:125854377:125854505	125850226:125850377	ENSG00000144908.9	ENST00000273450.3,ENST00000472186.1,ENST00000452905.2,ENST00000393434.2,ENST00000476245.1
exon_skip_387678	3	125854377:125854505:125855606:125855726:125856655:125856803	125855606:125855726	ENSG00000144908.9	ENST00000273450.3,ENST00000472186.1,ENST00000452905.2,ENST00000393434.2,ENST00000393431.2,ENST00000476245.1,ENST00000473607.1
exon_skip_387679	3	125855606:125855726:125856655:125856803:125865677:125865769	125856655:125856803	ENSG00000144908.9	ENST00000273450.3,ENST00000472186.1,ENST00000452905.2,ENST00000393434.2,ENST00000393431.2,ENST00000476245.1,ENST00000473607.1
exon_skip_387682	3	125865698:125865769:125869248:125869374:125872286:125872424	125869248:125869374	ENSG00000144908.9	ENST00000273450.3,ENST00000472186.1,ENST00000452905.2,ENST00000393434.2,ENST00000393431.2,ENST00000473607.1,ENST00000413612.1
exon_skip_387684	3	125865698:125865769:125869248:125869799:125872286:125872424	125869248:125869799	ENSG00000144908.9	ENST00000476245.1
exon_skip_387688	3	125869248:125869374:125872286:125872424:125873396:125873462	125872286:125872424	ENSG00000144908.9	ENST00000273450.3,ENST00000472186.1,ENST00000452905.2,ENST00000393434.2,ENST00000393431.2,ENST00000473607.1,ENST00000413612.1
exon_skip_387690	3	125873396:125873486:125874244:125874340:125876185:125876351	125874244:125874340	ENSG00000144908.9	ENST00000484724.1
exon_skip_387692	3	125873396:125873486:125874244:125874346:125876185:125876351	125874244:125874346	ENSG00000144908.9	ENST00000273450.3,ENST00000472186.1,ENST00000393434.2,ENST00000393431.2,ENST00000473607.1,ENST00000493803.1,ENST00000455064.2
exon_skip_387694	3	125876242:125876351:125877247:125877482:125879695:125879845	125877247:125877482	ENSG00000144908.9	ENST00000273450.3,ENST00000472186.1,ENST00000393434.2,ENST00000393431.2,ENST00000490367.1,ENST00000460368.1,ENST00000488356.1
exon_skip_387695	3	125877440:125877482:125878225:125878409:125879695:125879845	125878225:125878409	ENSG00000144908.9	ENST00000473607.1,ENST00000511283.1

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 ALDH1L1

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
ENST00000393434	125833399	125833499	Frame-shift
ENST00000472186	125833399	125833499	Frame-shift
ENST00000393434	125843206	125843294	Frame-shift
ENST00000472186	125843206	125843294	Frame-shift
ENST00000393434	125850226	125850377	Frame-shift
ENST00000472186	125850226	125850377	Frame-shift
ENST00000393434	125856655	125856803	Frame-shift
ENST00000472186	125856655	125856803	Frame-shift
ENST00000393434	125877247	125877482	Frame-shift
ENST00000472186	125877247	125877482	Frame-shift
ENST00000393434	125855606	125855726	In-frame
ENST00000472186	125855606	125855726	In-frame
ENST00000393434	125869248	125869374	In-frame
ENST00000472186	125869248	125869374	In-frame
ENST00000393434	125872286	125872424	In-frame
ENST00000472186	125872286	125872424	In-frame
ENST00000393434	125874244	125874346	In-frame
ENST00000472186	125874244	125874346	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
ENST00000393434	125833399	125833499	Frame-shift
ENST00000472186	125833399	125833499	Frame-shift
ENST00000393434	125843206	125843294	Frame-shift
ENST00000472186	125843206	125843294	Frame-shift
ENST00000393434	125850226	125850377	Frame-shift
ENST00000472186	125850226	125850377	Frame-shift
ENST00000393434	125856655	125856803	Frame-shift
ENST00000472186	125856655	125856803	Frame-shift
ENST00000393434	125877247	125877482	Frame-shift
ENST00000472186	125877247	125877482	Frame-shift
ENST00000393434	125855606	125855726	In-frame
ENST00000472186	125855606	125855726	In-frame
ENST00000393434	125869248	125869374	In-frame
ENST00000472186	125869248	125869374	In-frame
ENST00000393434	125872286	125872424	In-frame
ENST00000472186	125872286	125872424	In-frame
ENST00000393434	125874244	125874346	In-frame
ENST00000472186	125874244	125874346	In-frame

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Infer the effects of exon skipping event on protein functional features for ALDH1L1

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
ENST00000393434	3294	902	125874244	125874346	879	980	176	210
ENST00000472186	3174	902	125874244	125874346	757	858	176	210
ENST00000393434	3294	902	125872286	125872424	1071	1208	240	286
ENST00000472186	3174	902	125872286	125872424	949	1086	240	286
ENST00000393434	3294	902	125869248	125869374	1209	1334	286	328
ENST00000472186	3174	902	125869248	125869374	1087	1212	286	328
ENST00000393434	3294	902	125855606	125855726	1575	1694	408	448
ENST00000472186	3174	902	125855606	125855726	1453	1572	408	448

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
ENST00000393434	3294	902	125874244	125874346	879	980	176	210
ENST00000472186	3174	902	125874244	125874346	757	858	176	210
ENST00000393434	3294	902	125872286	125872424	1071	1208	240	286
ENST00000472186	3174	902	125872286	125872424	949	1086	240	286
ENST00000393434	3294	902	125869248	125869374	1209	1334	286	328
ENST00000472186	3174	902	125869248	125869374	1087	1212	286	328
ENST00000393434	3294	902	125855606	125855726	1575	1694	408	448
ENST00000472186	3174	902	125855606	125855726	1453	1572	408	448

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
O75891	176	210	118	218	Alternative sequence	ID=VSP_045569;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O75891	176	210	118	218	Alternative sequence	ID=VSP_045569;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O75891	176	210	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	176	210	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	176	210	170	185	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	176	210	170	185	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	176	210	206	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	176	210	206	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	176	210	1	203	Region	Note=GART
O75891	176	210	1	203	Region	Note=GART
O75891	176	210	176	176	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75891	176	210	176	176	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75891	176	210	195	195	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75891	176	210	195	195	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75891	240	286	240	249	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	240	249	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	258	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	258	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	270	273	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	270	273	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	276	280	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	276	280	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	286	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	286	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	240	286	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	240	286	254	254	Natural variant	ID=VAR_052290;Note=L->P;Dbxref=dbSNP:rs3796191
O75891	240	286	254	254	Natural variant	ID=VAR_052290;Note=L->P;Dbxref=dbSNP:rs3796191
O75891	286	328	286	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	286	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	299	301	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	299	301	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	286	328	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	286	328	318	395	Domain	Note=Carrier;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00258
O75891	286	328	318	395	Domain	Note=Carrier;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00258
O75891	286	328	302	304	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	302	304	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	320	334	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CQ8
O75891	286	328	320	334	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CQ8
O75891	408	448	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	408	448	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	408	448	429	429	Natural variant	ID=VAR_052292;Note=E->A;Dbxref=dbSNP:rs9282691
O75891	408	448	429	429	Natural variant	ID=VAR_052292;Note=E->A;Dbxref=dbSNP:rs9282691
O75891	408	448	436	436	Natural variant	ID=VAR_052293;Note=A->T;Dbxref=dbSNP:rs9282692
O75891	408	448	436	436	Natural variant	ID=VAR_052293;Note=A->T;Dbxref=dbSNP:rs9282692
O75891	408	448	448	448	Natural variant	ID=VAR_052295;Note=S->N;Dbxref=dbSNP:rs9282697
O75891	408	448	448	448	Natural variant	ID=VAR_052295;Note=S->N;Dbxref=dbSNP:rs9282697
O75891	408	448	417	902	Region	Note=Aldehyde dehydrogenase
O75891	408	448	417	902	Region	Note=Aldehyde 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
O75891	176	210	118	218	Alternative sequence	ID=VSP_045569;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O75891	176	210	118	218	Alternative sequence	ID=VSP_045569;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O75891	176	210	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	176	210	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	176	210	170	185	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	176	210	170	185	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	176	210	206	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	176	210	206	209	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	176	210	1	203	Region	Note=GART
O75891	176	210	1	203	Region	Note=GART
O75891	176	210	176	176	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75891	176	210	176	176	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75891	176	210	195	195	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75891	176	210	195	195	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75891	240	286	240	249	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	240	249	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	258	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	258	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	270	273	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	270	273	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	276	280	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	276	280	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	286	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	286	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	240	286	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	240	286	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	240	286	254	254	Natural variant	ID=VAR_052290;Note=L->P;Dbxref=dbSNP:rs3796191
O75891	240	286	254	254	Natural variant	ID=VAR_052290;Note=L->P;Dbxref=dbSNP:rs3796191
O75891	286	328	286	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	286	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	299	301	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	299	301	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	286	328	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	286	328	318	395	Domain	Note=Carrier;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00258
O75891	286	328	318	395	Domain	Note=Carrier;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00258
O75891	286	328	302	304	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	302	304	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2BW0
O75891	286	328	320	334	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CQ8
O75891	286	328	320	334	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CQ8
O75891	408	448	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	408	448	1	902	Chain	ID=PRO_0000199419;Note=Cytosolic 10-formyltetrahydrofolate dehydrogenase
O75891	408	448	429	429	Natural variant	ID=VAR_052292;Note=E->A;Dbxref=dbSNP:rs9282691
O75891	408	448	429	429	Natural variant	ID=VAR_052292;Note=E->A;Dbxref=dbSNP:rs9282691
O75891	408	448	436	436	Natural variant	ID=VAR_052293;Note=A->T;Dbxref=dbSNP:rs9282692
O75891	408	448	436	436	Natural variant	ID=VAR_052293;Note=A->T;Dbxref=dbSNP:rs9282692
O75891	408	448	448	448	Natural variant	ID=VAR_052295;Note=S->N;Dbxref=dbSNP:rs9282697
O75891	408	448	448	448	Natural variant	ID=VAR_052295;Note=S->N;Dbxref=dbSNP:rs9282697
O75891	408	448	417	902	Region	Note=Aldehyde dehydrogenase
O75891	408	448	417	902	Region	Note=Aldehyde dehydrogenase

Top

SNVs in the skipped exons for ALDH1L1

- 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
CESC	TCGA-BI-A0VS-01		125833400	125833499	125833423	125833424	Frame_Shift_Del	CA	-	p.CD686fs
LIHC	TCGA-DD-A1EG-01		125833400	125833499	125833444	125833444	Frame_Shift_Del	G	-	p.L680fs
LUAD	TCGA-78-7159-01	exon_skip_387642	125836848	125836941	125836866	125836866	Frame_Shift_Del	C	-	p.G655fs
LIHC	TCGA-DD-A39Y-01	exon_skip_387664	125849066	125849136	125849122	125849122	Frame_Shift_Del	G	-	p.P546fs
STAD	TCGA-BR-7958-01	exon_skip_387676	125850227	125850377	125850299	125850312	Frame_Shift_Del	CAGCGTGTAGACGG	-	p.523_528del
STAD	TCGA-BR-7958-01	exon_skip_387676	125850227	125850377	125850299	125850312	Frame_Shift_Del	CAGCGTGTAGACGG	-	p.A513fs
LIHC	TCGA-DD-A1EG-01	exon_skip_387679	125856656	125856803	125856724	125856724	Frame_Shift_Del	C	-	p.D386fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_387682	125869249	125869374	125869338	125869338	Frame_Shift_Del	T	-	p.M299fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_387684	125869249	125869799	125869338	125869338	Frame_Shift_Del	T	-	p.M299fs
LIHC	TCGA-DD-A3A0-01	exon_skip_387688	125872287	125872424	125872334	125872334	Frame_Shift_Del	C	-	p.V272fs
COAD	TCGA-AD-5900-01	exon_skip_387694	125877248	125877482	125877315	125877315	Frame_Shift_Del	G	-	p.R99fs
LIHC	TCGA-DD-A3A0-01	exon_skip_387694	125877248	125877482	125877315	125877315	Frame_Shift_Del	G	-	p.R99fs
STAD	TCGA-CG-4306-01	exon_skip_387694	125877248	125877482	125877315	125877315	Frame_Shift_Del	G	-	p.R99fs
LIHC	TCGA-DD-A1EG-01	exon_skip_387694	125877248	125877482	125877378	125877378	Frame_Shift_Del	C	-	p.A78fs
UCEC	TCGA-AX-A06H-01	exon_skip_387678	125855607	125855726	125855665	125855666	Frame_Shift_Ins	-	C	p.E429fs
HNSC	TCGA-CV-7099-01	exon_skip_387688	125872287	125872424	125872405	125872405	Nonsense_Mutation	G	C	p.S247*
LUAD	TCGA-55-7907-01	exon_skip_387694	125877248	125877482	125877423	125877423	Nonsense_Mutation	C	A	p.G63*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_387684
	Skipped exon start: 125869249
	Skipped exon end: 125869799
	Mutation start: 125869338
	Mutation end: 125869338
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.M299fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_387682
	Skipped exon start: 125869249
	Skipped exon end: 125869374
	Mutation start: 125869338
	Mutation end: 125869338
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.M299fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109529_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11937_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11939_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124065_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124066_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126833_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126836_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1268_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1270_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_127101_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1274_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_128729_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129795_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129799_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131401_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131474_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135545_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135553_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_13626_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138373_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_141657_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143515_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143728_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_14564_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_149490_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_153354_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1873_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1874_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_24442_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_284510_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289275_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289905_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_291218_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293221_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293223_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300058_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302253_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_305815_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30789_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30792_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309404_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309486_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309505_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309539_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_311823_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_313290_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315285_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_316122_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_325693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327441_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327550_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329666_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_331517_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354387_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354396_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_356468_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365023_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_371589_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_375393_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_380574_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382000_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382738_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_385031_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421130_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421131_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421134_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426530_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_427391_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_430528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433436_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433655_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_434375_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_43567_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436327_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_444593_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_445559_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_447600_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_452739_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_4535_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_457245_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_45824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464169_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464999_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_466343_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_467017_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_468347_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_470485_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_478117_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483502_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483622_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_492152_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_499409_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_502144_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504288_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504556_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506095_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506097_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507316_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507513_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_55516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57597_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57603_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5818_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5861_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_58894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_59476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_60476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67293_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67402_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_69019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_71100_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_73796_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_84528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86050_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86051_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86135_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_87721_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_93891_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_94866_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_96453_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_98550_LIHC_TCGA-G3-A3CJ-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
NCIH1623_LUNG	125872287	125872424	125872322	125872323	Frame_Shift_Ins	-	TT	p.A275fs
NCIH1437_LUNG	125833400	125833499	125833405	125833405	Missense_Mutation	G	C	p.Q693E
OVK18_OVARY	125833400	125833499	125833447	125833447	Missense_Mutation	G	A	p.P679S
MEWO_SKIN	125836848	125836941	125836873	125836873	Missense_Mutation	C	T	p.E653K
SNU1040_LARGE_INTESTINE	125836848	125836941	125836902	125836902	Missense_Mutation	A	G	p.V643A
CS1_BONE	125843207	125843294	125843264	125843264	Missense_Mutation	C	T	p.E611K
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	125843207	125843294	125843290	125843290	Missense_Mutation	G	T	p.T602N
SNU1040_LARGE_INTESTINE	125850227	125850377	125850282	125850282	Missense_Mutation	A	G	p.V523A
NCIH740_LUNG	125850227	125850377	125850283	125850283	Missense_Mutation	C	G	p.V523L
SNU1040_LARGE_INTESTINE	125850227	125850377	125850318	125850318	Missense_Mutation	G	A	p.A511V
SW1271_LUNG	125855607	125855726	125855651	125855651	Missense_Mutation	C	T	p.E434K
JHUEM7_ENDOMETRIUM	125855607	125855726	125855693	125855693	Missense_Mutation	T	A	p.M420L
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	125855607	125855726	125855693	125855693	Missense_Mutation	T	A	p.M420L
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	125855607	125855726	125855693	125855693	Missense_Mutation	T	A	p.M420L
NCIH1915_LUNG	125856656	125856803	125856665	125856665	Missense_Mutation	G	T	p.S405R
SN12C_KIDNEY	125856656	125856803	125856729	125856729	Missense_Mutation	A	T	p.F384Y
AN3CA_ENDOMETRIUM	125856656	125856803	125856750	125856750	Missense_Mutation	T	A	p.D377V
LMSU_STOMACH	125872287	125872424	125872367	125872367	Missense_Mutation	C	T	p.A260T
KMRC3_KIDNEY	125874245	125874340	125874279	125874279	Missense_Mutation	G	A	p.T199I
KMRC3_KIDNEY	125874245	125874346	125874279	125874279	Missense_Mutation	G	A	p.T199I
ES2_OVARY	125874245	125874340	125874286	125874286	Missense_Mutation	C	G	p.G197R
ES2_OVARY	125874245	125874346	125874286	125874286	Missense_Mutation	C	G	p.G197R
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	125874245	125874340	125874339	125874339	Missense_Mutation	G	A	p.A179V
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	125874245	125874346	125874339	125874339	Missense_Mutation	G	A	p.A179V
LS180_LARGE_INTESTINE	125877248	125877482	125877263	125877263	Missense_Mutation	G	A	p.A116V
OMC1_CERVIX	125877248	125877482	125877308	125877308	Missense_Mutation	C	T	p.G101D
OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	125877248	125877482	125877320	125877320	Missense_Mutation	G	A	p.A97V
SNU1040_LARGE_INTESTINE	125877248	125877482	125877333	125877333	Missense_Mutation	C	T	p.E93K
COLO205_LARGE_INTESTINE	125877248	125877482	125877353	125877353	Missense_Mutation	C	G	p.C86S
T47D_BREAST	125877248	125877482	125877387	125877387	Missense_Mutation	C	T	p.A75T
RHJT_SOFT_TISSUE	125877248	125877482	125877270	125877270	Nonsense_Mutation	G	A	p.R114*
NCIH1573_LUNG	125850227	125850377	125850227	125850227	Splice_Site	C	A	p.Q541H
RH30_SOFT_TISSUE	125869249	125869799	125869250	125869250	Splice_Site	C	T	p.R328Q
RH30_SOFT_TISSUE	125869249	125869374	125869250	125869250	Splice_Site	C	T	p.R328Q

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALDH1L1

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_387688	3	125869248:125869374:125872286:125872424:125873396:125873462	125872286:125872424	ENST00000472186.1,ENST00000473607.1,ENST00000273450.3,ENST00000413612.1,ENST00000452905.2,ENST00000393431.2,ENST00000393434.2	PRAD	rs16837178	chr3:125872293	C/T	1.78e-03
exon_skip_387679	3	125855606:125855726:125856655:125856803:125865677:125865769	125856655:125856803	ENST00000472186.1,ENST00000473607.1,ENST00000273450.3,ENST00000452905.2,ENST00000476245.1,ENST00000393431.2,ENST00000393434.2	LGG	rs2305230	chr3:125856695	C/A	7.63e-05
exon_skip_387679	3	125855606:125855726:125856655:125856803:125865677:125865769	125856655:125856803	ENST00000472186.1,ENST00000473607.1,ENST00000273450.3,ENST00000452905.2,ENST00000476245.1,ENST00000393431.2,ENST00000393434.2	KIRC	rs2305230	chr3:125856695	C/A	1.54e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALDH1L1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALDH1L1

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RelatedDrugs for ALDH1L1

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 ALDH1L1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ALDH1L1	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
ALDH1L1	C0028754	Obesity	1	CTD_human
ALDH1L1	C0242184	Hypoxia	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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