ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MTHFD1

Gene summary

Gene information	Gene symbol	MTHFD1
	Gene ID	4522
	Gene name	methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
	Synonyms	CIMAH\|MTHFC\|MTHFD
	Cytomap	14q23.3
	Type of gene	protein-coding
	Description	C-1-tetrahydrofolate synthase, cytoplasmic5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetaseC1-THF synthasecytoplasmic C-1-tetrahydrofolate synthasemethylenetetrahydrofolat
	Modification date	20180523
	UniProtAcc	P11586
	Context	PubMed: MTHFD1 [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 MTHFD1 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 MTHFD1

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 MTHFD1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_107334	14	64855067:64855186:64855718:64855843:64857054:64857185	64855718:64855843	ENSG00000100714.11	ENST00000554739.1
exon_skip_107335	14	64855067:64855186:64855718:64855843:64867510:64867595	64855718:64855843	ENSG00000100714.11	ENST00000554768.1
exon_skip_107337	14	64855067:64855186:64867510:64867595:64877807:64877867	64867510:64867595	ENSG00000100714.11	ENST00000555709.2,ENST00000216605.8
exon_skip_107339	14	64867510:64867595:64877807:64877867:64879189:64879243	64877807:64877867	ENSG00000100714.11	ENST00000554739.1,ENST00000555709.2,ENST00000545908.1,ENST00000554768.1,ENST00000557539.1,ENST00000216605.8
exon_skip_107341	14	64877807:64877867:64879189:64879243:64882075:64882147	64879189:64879243	ENSG00000100714.11	ENST00000554739.1,ENST00000555709.2,ENST00000545908.1,ENST00000554768.1,ENST00000557539.1,ENST00000216605.8
exon_skip_107343	14	64882356:64882457:64884605:64884742:64886531:64886643	64884605:64884742	ENSG00000100714.11	ENST00000545908.1,ENST00000555252.1,ENST00000216605.8
exon_skip_107347	14	64892736:64892910:64894054:64894191:64896901:64896948	64894054:64894191	ENSG00000100714.11	ENST00000545908.1,ENST00000555252.1,ENST00000216605.8
exon_skip_107350	14	64894054:64894191:64896901:64896948:64898249:64898357	64896901:64896948	ENSG00000100714.11	ENST00000545908.1,ENST00000555252.1,ENST00000216605.8
exon_skip_107351	14	64898249:64898357:64898504:64898579:64902286:64902389	64898504:64898579	ENSG00000100714.11	ENST00000545908.1,ENST00000555252.1,ENST00000216605.8
exon_skip_107352	14	64898545:64898579:64902286:64902389:64905813:64905890	64902286:64902389	ENSG00000100714.11	ENST00000554677.1,ENST00000545908.1,ENST00000555252.1,ENST00000216605.8
exon_skip_107354	14	64902286:64902389:64905813:64905890:64906843:64906984	64905813:64905890	ENSG00000100714.11	ENST00000554677.1,ENST00000545908.1,ENST00000555252.1,ENST00000216605.8
exon_skip_107356	14	64905813:64905890:64906843:64906984:64908102:64908171	64906843:64906984	ENSG00000100714.11	ENST00000554677.1,ENST00000545908.1,ENST00000216605.8
exon_skip_107361	14	64906938:64906984:64908102:64908171:64908771:64908883	64908102:64908171	ENSG00000100714.11	ENST00000556771.1,ENST00000545908.1,ENST00000216605.8
exon_skip_107363	14	64908102:64908171:64908771:64908883:64908980:64909120	64908771:64908883	ENSG00000100714.11	ENST00000553405.1,ENST00000556771.1,ENST00000545908.1,ENST00000216605.8
exon_skip_107367	14	64914934:64915035:64916162:64916340:64920471:64920525	64916162:64916340	ENSG00000100714.11	ENST00000553405.1,ENST00000545908.1,ENST00000216605.8
exon_skip_107368	14	64916328:64916340:64920471:64920579:64921440:64921593	64920471:64920579	ENSG00000100714.11	ENST00000557370.2,ENST00000545908.1,ENST00000556284.1,ENST00000216605.8
exon_skip_107375	14	64920471:64920579:64921440:64921593:64924931:64925025	64921440:64921593	ENSG00000100714.11	ENST00000556284.1,ENST00000216605.8
exon_skip_107376	14	64920471:64920579:64921440:64921593:64926476:64926700	64921440:64921593	ENSG00000100714.11	ENST00000545908.1
exon_skip_107381	14	64921501:64921593:64924931:64925025:64926476:64926700	64924931:64925025	ENSG00000100714.11	ENST00000216605.8
exon_skip_107383	14	64924931:64925025:64925146:64925377:64926476:64926700	64925146:64925377	ENSG00000100714.11	ENST00000556284.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MTHFD1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_107334	14	64855067:64855186:64855718:64855843:64857054:64857185	64855718:64855843	ENSG00000100714.11	ENST00000554739.1
exon_skip_107335	14	64855067:64855186:64855718:64855843:64867510:64867595	64855718:64855843	ENSG00000100714.11	ENST00000554768.1
exon_skip_107337	14	64855067:64855186:64867510:64867595:64877807:64877867	64867510:64867595	ENSG00000100714.11	ENST00000555709.2,ENST00000216605.8
exon_skip_107338	14	64855718:64855843:64857054:64857185:64867510:64867595	64857054:64857185	ENSG00000100714.11	ENST00000554739.1
exon_skip_107339	14	64867510:64867595:64877807:64877867:64879189:64879243	64877807:64877867	ENSG00000100714.11	ENST00000545908.1,ENST00000555709.2,ENST00000554739.1,ENST00000554768.1,ENST00000216605.8,ENST00000557539.1
exon_skip_107341	14	64877807:64877867:64879189:64879243:64882075:64882147	64879189:64879243	ENSG00000100714.11	ENST00000545908.1,ENST00000555709.2,ENST00000554739.1,ENST00000554768.1,ENST00000216605.8,ENST00000557539.1
exon_skip_107343	14	64882356:64882457:64884605:64884742:64886531:64886643	64884605:64884742	ENSG00000100714.11	ENST00000545908.1,ENST00000555252.1,ENST00000216605.8
exon_skip_107347	14	64892736:64892910:64894054:64894191:64896901:64896948	64894054:64894191	ENSG00000100714.11	ENST00000545908.1,ENST00000555252.1,ENST00000216605.8
exon_skip_107350	14	64894054:64894191:64896901:64896948:64898249:64898357	64896901:64896948	ENSG00000100714.11	ENST00000545908.1,ENST00000555252.1,ENST00000216605.8
exon_skip_107351	14	64898249:64898357:64898504:64898579:64902286:64902389	64898504:64898579	ENSG00000100714.11	ENST00000545908.1,ENST00000555252.1,ENST00000216605.8
exon_skip_107352	14	64898545:64898579:64902286:64902389:64905813:64905890	64902286:64902389	ENSG00000100714.11	ENST00000545908.1,ENST00000555252.1,ENST00000216605.8,ENST00000554677.1
exon_skip_107354	14	64902286:64902389:64905813:64905890:64906843:64906984	64905813:64905890	ENSG00000100714.11	ENST00000545908.1,ENST00000555252.1,ENST00000216605.8,ENST00000554677.1
exon_skip_107356	14	64905813:64905890:64906843:64906984:64908102:64908171	64906843:64906984	ENSG00000100714.11	ENST00000545908.1,ENST00000216605.8,ENST00000554677.1
exon_skip_107361	14	64906938:64906984:64908102:64908171:64908771:64908883	64908102:64908171	ENSG00000100714.11	ENST00000545908.1,ENST00000216605.8,ENST00000556771.1
exon_skip_107363	14	64908102:64908171:64908771:64908883:64908980:64909120	64908771:64908883	ENSG00000100714.11	ENST00000545908.1,ENST00000216605.8,ENST00000556771.1,ENST00000553405.1
exon_skip_107367	14	64914934:64915035:64916162:64916340:64920471:64920525	64916162:64916340	ENSG00000100714.11	ENST00000545908.1,ENST00000216605.8,ENST00000553405.1
exon_skip_107368	14	64916328:64916340:64920471:64920579:64921440:64921593	64920471:64920579	ENSG00000100714.11	ENST00000545908.1,ENST00000216605.8,ENST00000556284.1,ENST00000557370.2
exon_skip_107375	14	64920471:64920579:64921440:64921593:64924931:64925025	64921440:64921593	ENSG00000100714.11	ENST00000216605.8,ENST00000556284.1
exon_skip_107376	14	64920471:64920579:64921440:64921593:64926476:64926700	64921440:64921593	ENSG00000100714.11	ENST00000545908.1
exon_skip_107381	14	64921501:64921593:64924931:64925025:64926476:64926700	64924931:64925025	ENSG00000100714.11	ENST00000216605.8
exon_skip_107383	14	64924931:64925025:64925146:64925377:64926476:64926700	64925146:64925377	ENSG00000100714.11	ENST00000556284.1

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 MTHFD1

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
ENST00000216605	64924931	64925025	3UTR-3CDS
ENST00000216605	64867510	64867595	Frame-shift
ENST00000216605	64884605	64884742	Frame-shift
ENST00000216605	64894054	64894191	Frame-shift
ENST00000216605	64896901	64896948	Frame-shift
ENST00000216605	64902286	64902389	Frame-shift
ENST00000216605	64905813	64905890	Frame-shift
ENST00000216605	64908771	64908883	Frame-shift
ENST00000216605	64916162	64916340	Frame-shift
ENST00000216605	64877807	64877867	In-frame
ENST00000216605	64879189	64879243	In-frame
ENST00000216605	64898504	64898579	In-frame
ENST00000216605	64906843	64906984	In-frame
ENST00000216605	64908102	64908171	In-frame
ENST00000216605	64920471	64920579	In-frame
ENST00000216605	64921440	64921593	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
ENST00000216605	64924931	64925025	3UTR-3CDS
ENST00000216605	64867510	64867595	Frame-shift
ENST00000216605	64884605	64884742	Frame-shift
ENST00000216605	64894054	64894191	Frame-shift
ENST00000216605	64896901	64896948	Frame-shift
ENST00000216605	64902286	64902389	Frame-shift
ENST00000216605	64905813	64905890	Frame-shift
ENST00000216605	64908771	64908883	Frame-shift
ENST00000216605	64916162	64916340	Frame-shift
ENST00000216605	64877807	64877867	In-frame
ENST00000216605	64879189	64879243	In-frame
ENST00000216605	64898504	64898579	In-frame
ENST00000216605	64906843	64906984	In-frame
ENST00000216605	64908102	64908171	In-frame
ENST00000216605	64920471	64920579	In-frame
ENST00000216605	64921440	64921593	In-frame

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Infer the effects of exon skipping event on protein functional features for MTHFD1

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
ENST00000216605	3152	935	64877807	64877867	205	264	42	62
ENST00000216605	3152	935	64879189	64879243	265	318	62	80
ENST00000216605	3152	935	64898504	64898579	1498	1572	473	498
ENST00000216605	3152	935	64906843	64906984	1753	1893	558	605
ENST00000216605	3152	935	64908102	64908171	1894	1962	605	628
ENST00000216605	3152	935	64920471	64920579	2536	2643	819	855
ENST00000216605	3152	935	64921440	64921593	2644	2796	855	906

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
ENST00000216605	3152	935	64877807	64877867	205	264	42	62
ENST00000216605	3152	935	64879189	64879243	265	318	62	80
ENST00000216605	3152	935	64898504	64898579	1498	1572	473	498
ENST00000216605	3152	935	64906843	64906984	1753	1893	558	605
ENST00000216605	3152	935	64908102	64908171	1894	1962	605	628
ENST00000216605	3152	935	64920471	64920579	2536	2643	819	855
ENST00000216605	3152	935	64921440	64921593	2644	2796	855	906

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
P11586	42	62	37	44	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1A4I
P11586	42	62	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	42	62	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	42	62	47	63	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1A4I
P11586	42	62	49	49	Mutagenesis	Note=No effect on dehydrogenase and cyclohydrolase activity. Strong increase of Km for NADP. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	49	49	Mutagenesis	Note=Reduces dehydrogenase by 75%25 and cyclohydrolase activity by 99%25. No effect on Km for NADP and for 5%2C10-methenyltetrahydrofolate. S->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	52	52	Mutagenesis	Note=Reduces dehydrogenase activity by 99%25. Reduces cyclohydrolase activity by 70%25. No effect on Km for NADP and for 5%2C10-methenyltetrahydrofolate. Y->A%2CS;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	52	52	Mutagenesis	Note=Slightly reduces dehydrogenase and cyclohydrolase activity. Increase of Km for NADP and for 5%2C10-methenyltetrahydrofolate. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	56	56	Mutagenesis	Note=Decreases dehydrogenase activity over 90%25. Loss of cyclohydrolase activity. K->A%2CI%2CS%2CT;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	56	56	Mutagenesis	Note=Moderate decrease of dehydrogenase activity. Loss of cyclohydrolase activity. Strong increase of Km for NADP. Decrease of Km for 5%2C10-methenyltetrahydrofolate. K->E%2CM%2CQ;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:
P11586	42	62	56	56	Mutagenesis	Note=Reduces dehydrogenase and cyclohydrolase activity by 99%25. No effect on Km for NADP and for 5%2C10-methenyltetrahydrofolate. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	49	49	Natural variant	ID=VAR_074075;Note=In CIMAH. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	42	62	51	51	Natural variant	ID=VAR_080873;Note=In CIMAH. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27707659;Dbxref=PMID:27707659
P11586	42	62	2	305	Region	Note=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
P11586	42	62	52	56	Region	Note=Substrate binding
P11586	62	80	66	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1A4I
P11586	62	80	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	62	80	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	62	80	47	63	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1A4I
P11586	62	80	78	90	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1A4I
P11586	62	80	2	305	Region	Note=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
P11586	473	498	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	473	498	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	473	498	490	490	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P11586	473	498	225	935	Natural variant	ID=VAR_080874;Note=In CIMAH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	473	498	306	935	Region	Note=Formyltetrahydrofolate synthetase
P11586	558	605	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	558	605	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	558	605	225	935	Natural variant	ID=VAR_080874;Note=In CIMAH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	558	605	306	935	Region	Note=Formyltetrahydrofolate synthetase
P11586	605	628	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	605	628	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	605	628	225	935	Natural variant	ID=VAR_080874;Note=In CIMAH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	605	628	306	935	Region	Note=Formyltetrahydrofolate synthetase
P11586	819	855	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	819	855	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	819	855	225	935	Natural variant	ID=VAR_080874;Note=In CIMAH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	819	855	306	935	Region	Note=Formyltetrahydrofolate synthetase
P11586	855	906	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	855	906	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	855	906	225	935	Natural variant	ID=VAR_080874;Note=In CIMAH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	855	906	306	935	Region	Note=Formyltetrahydrofolate synthetase

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
P11586	42	62	37	44	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1A4I
P11586	42	62	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	42	62	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	42	62	47	63	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1A4I
P11586	42	62	49	49	Mutagenesis	Note=No effect on dehydrogenase and cyclohydrolase activity. Strong increase of Km for NADP. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	49	49	Mutagenesis	Note=Reduces dehydrogenase by 75%25 and cyclohydrolase activity by 99%25. No effect on Km for NADP and for 5%2C10-methenyltetrahydrofolate. S->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	52	52	Mutagenesis	Note=Reduces dehydrogenase activity by 99%25. Reduces cyclohydrolase activity by 70%25. No effect on Km for NADP and for 5%2C10-methenyltetrahydrofolate. Y->A%2CS;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	52	52	Mutagenesis	Note=Slightly reduces dehydrogenase and cyclohydrolase activity. Increase of Km for NADP and for 5%2C10-methenyltetrahydrofolate. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	56	56	Mutagenesis	Note=Decreases dehydrogenase activity over 90%25. Loss of cyclohydrolase activity. K->A%2CI%2CS%2CT;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	56	56	Mutagenesis	Note=Moderate decrease of dehydrogenase activity. Loss of cyclohydrolase activity. Strong increase of Km for NADP. Decrease of Km for 5%2C10-methenyltetrahydrofolate. K->E%2CM%2CQ;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:
P11586	42	62	56	56	Mutagenesis	Note=Reduces dehydrogenase and cyclohydrolase activity by 99%25. No effect on Km for NADP and for 5%2C10-methenyltetrahydrofolate. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10828945;Dbxref=PMID:10828945
P11586	42	62	49	49	Natural variant	ID=VAR_074075;Note=In CIMAH. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	42	62	51	51	Natural variant	ID=VAR_080873;Note=In CIMAH. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27707659;Dbxref=PMID:27707659
P11586	42	62	2	305	Region	Note=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
P11586	42	62	52	56	Region	Note=Substrate binding
P11586	62	80	66	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1A4I
P11586	62	80	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	62	80	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	62	80	47	63	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1A4I
P11586	62	80	78	90	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1A4I
P11586	62	80	2	305	Region	Note=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
P11586	473	498	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	473	498	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	473	498	490	490	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P11586	473	498	225	935	Natural variant	ID=VAR_080874;Note=In CIMAH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	473	498	306	935	Region	Note=Formyltetrahydrofolate synthetase
P11586	558	605	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	558	605	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	558	605	225	935	Natural variant	ID=VAR_080874;Note=In CIMAH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	558	605	306	935	Region	Note=Formyltetrahydrofolate synthetase
P11586	605	628	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	605	628	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	605	628	225	935	Natural variant	ID=VAR_080874;Note=In CIMAH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	605	628	306	935	Region	Note=Formyltetrahydrofolate synthetase
P11586	819	855	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	819	855	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	819	855	225	935	Natural variant	ID=VAR_080874;Note=In CIMAH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	819	855	306	935	Region	Note=Formyltetrahydrofolate synthetase
P11586	855	906	1	935	Chain	ID=PRO_0000423280;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic
P11586	855	906	2	935	Chain	ID=PRO_0000199321;Note=C-1-tetrahydrofolate synthase%2C cytoplasmic%2C N-terminally processed
P11586	855	906	225	935	Natural variant	ID=VAR_080874;Note=In CIMAH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25633902;Dbxref=PMID:25633902
P11586	855	906	306	935	Region	Note=Formyltetrahydrofolate synthetase

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SNVs in the skipped exons for MTHFD1

- 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_107343	64884606	64884742	64884659	64884659	Frame_Shift_Del	G	-	p.G178fs
LIHC	TCGA-DD-A39Y-01	exon_skip_107343	64884606	64884742	64884663	64884663	Frame_Shift_Del	C	-	p.A179fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_107347	64894055	64894191	64894101	64894101	Frame_Shift_Del	G	-	p.G392fs
HNSC	TCGA-CR-7365-01	exon_skip_107356	64906844	64906984	64906869	64906879	Frame_Shift_Del	GTGAAATTATG	-	p.S567fs
HNSC	TCGA-CR-7365-01	exon_skip_107356	64906844	64906984	64906869	64906879	Frame_Shift_Del	GTGAAATTATG	-	p.SEIM567fs
HNSC	TCGA-F7-A624-01	exon_skip_107367	64916163	64916340	64916254	64916254	Frame_Shift_Del	G	-	p.G792fs
LIHC	TCGA-DD-A1EG-01	exon_skip_107368	64920472	64920579	64920487	64920487	Frame_Shift_Del	A	-	p.K825fs
LIHC	TCGA-DD-A1EG-01	exon_skip_107375 exon_skip_107376	64921441	64921593	64921578	64921578	Frame_Shift_Del	C	-	p.Y901fs
SARC	TCGA-QQ-A5VA-01	exon_skip_107343	64884606	64884742	64884678	64884679	Frame_Shift_Ins	-	G	p.L185fs
SARC	TCGA-QQ-A5VA-01	exon_skip_107343	64884606	64884742	64884678	64884679	Frame_Shift_Ins	-	G	p.S184fs
ESCA	TCGA-L5-A88Y-01	exon_skip_107368	64920472	64920579	64920550	64920550	Nonsense_Mutation	C	T	p.Q846*
ESCA	TCGA-L5-A88Y-01	exon_skip_107368	64920472	64920579	64920550	64920550	Nonsense_Mutation	C	T	p.Q846X
BRCA	TCGA-AN-A04C-01	exon_skip_107341	64879190	64879243	64879189	64879189	Splice_Site	G	A	e4-1
SKCM	TCGA-EE-A3AB-06	exon_skip_107343	64884606	64884742	64884744	64884744	Splice_Site	T	C	.
STAD	TCGA-BR-6455-01	exon_skip_107347	64894055	64894191	64894054	64894054	Splice_Site	G	C	.
STAD	TCGA-BR-6455-01	exon_skip_107347	64894055	64894191	64894054	64894054	Splice_Site	G	C	p.G376_splice

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

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64867511	64867595	64867530	64867530	Missense_Mutation	A	G	p.K77E
NB17_AUTONOMIC_GANGLIA	64867511	64867595	64867546	64867547	Missense_Mutation	AG	TT	p.Q82L
NCIH187_LUNG	64877808	64877867	64877862	64877862	Missense_Mutation	G	C	p.E117Q
HCC1569_BREAST	64884606	64884742	64884692	64884692	Missense_Mutation	A	G	p.N245D
SNU175_LARGE_INTESTINE	64894055	64894191	64894147	64894147	Missense_Mutation	C	T	p.A463V
KE39_STOMACH	64896902	64896948	64896935	64896935	Missense_Mutation	T	C	p.I489T
KLE_ENDOMETRIUM	64898505	64898579	64898533	64898533	Missense_Mutation	T	A	p.V539E
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64902287	64902389	64902343	64902343	Missense_Mutation	A	T	p.R573S
NCIH854_LUNG	64905814	64905890	64905826	64905826	Missense_Mutation	A	G	p.N593S
TE8_OESOPHAGUS	64905814	64905890	64905836	64905836	Missense_Mutation	C	G	p.F596L
BC3C_URINARY_TRACT	64905814	64905890	64905850	64905850	Missense_Mutation	C	T	p.T601M
UBLC1_URINARY_TRACT	64906844	64906984	64906923	64906923	Missense_Mutation	G	C	p.R641T
HS936T_SKIN	64906844	64906984	64906979	64906979	Missense_Mutation	G	T	p.D660Y
IGROV1_OVARY	64908103	64908171	64908139	64908139	Missense_Mutation	G	A	p.A674T
TGBC11TKB_STOMACH	64908103	64908171	64908139	64908139	Missense_Mutation	G	A	p.A674T
MEWO_SKIN	64908103	64908171	64908169	64908169	Missense_Mutation	G	A	p.E684K
HEC151_ENDOMETRIUM	64908772	64908883	64908814	64908814	Missense_Mutation	G	A	p.A699T
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64908772	64908883	64908814	64908814	Missense_Mutation	G	A	p.A699T
OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64920472	64920579	64920510	64920510	Missense_Mutation	G	C	p.K888N
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64921441	64921593	64921492	64921492	Missense_Mutation	C	G	p.H929D
BICR16_UPPER_AERODIGESTIVE_TRACT	64921441	64921593	64921511	64921511	Missense_Mutation	G	C	p.G935A
RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64921441	64921593	64921535	64921535	Missense_Mutation	C	T	p.P943L
OC316_OVARY	64924932	64925025	64925003	64925003	Missense_Mutation	G	T	p.Q930H
OC314_OVARY	64924932	64925025	64925003	64925003	Missense_Mutation	G	T	p.Q930H
SNU1040_LARGE_INTESTINE	64879190	64879243	64879242	64879242	Splice_Site	A	G	p.E136G
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64921441	64921593	64921441	64921441	Splice_Site	G	A	p.G912S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MTHFD1

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 MTHFD1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MTHFD1

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RelatedDrugs for MTHFD1

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 MTHFD1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MTHFD1	C0027794	Neural Tube Defects	2	CTD_human
MTHFD1	C1866558	Neural tube defect, folate-sensitive	2	CTD_human;UNIPROT
MTHFD1	C0000832	Abruptio Placentae	1	CTD_human
MTHFD1	C0005586	Bipolar Disorder	1	PSYGENET
MTHFD1	C0036341	Schizophrenia	1	PSYGENET

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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