ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for FTO

Gene summary

Gene information	Gene symbol	FTO
	Gene ID	79068
	Gene name	FTO alpha-ketoglutarate dependent dioxygenase
	Synonyms	ALKBH9\|BMIQ14\|GDFD
	Cytomap	16q12.2
	Type of gene	protein-coding
	Description	alpha-ketoglutarate-dependent dioxygenase FTOAlkB homolog 9U6 small nuclear RNA (2'-O-methyladenosine-N(6)-)-demethylase FTOU6 small nuclear RNA N(6)-methyladenosine-demethylase FTOfat mass and obesity associatedfat mass and obesity-associated protei
	Modification date	20200329
	UniProtAcc	A0A1B0GTC3, A0A1B0GTC5, A0A1B0GTI3, A0A1B0GTY1, A0A1B0GTY5, A0A1B0GTZ8, A0A1B0GU26, A0A1B0GUC3, A0A1B0GUY7, A0A1B0GV98, A0A1B0GVH5, F8WCB8, Q9C0B1, X6R3I0,
	Context	- 29501742(FTO Is Involved in Alzheimer's Disease by Targeting TSC1-mTOR-Tau Signaling)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
FTO	GO:0006307	DNA dealkylation involved in DNA repair	18775698\|20376003
FTO	GO:0035552	oxidative single-stranded DNA demethylation	18775698\|20376003
FTO	GO:0035553	oxidative single-stranded RNA demethylation	18775698\|22002720\|25452335\|26457839\|28002401\|30197295
FTO	GO:0042245	RNA repair	18775698
FTO	GO:0061157	mRNA destabilization	28002401\|30197295
FTO	GO:0070989	oxidative demethylation	18775698
FTO	GO:0080111	DNA demethylation	18775698

Top

Gene structures and expression levels for FTO

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000140718

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

ENST

Transcript info.

Base mean exp.

log2FC(AD/control)

P-value

Adjc. p-value

Landscape of isoform expressions across multiple brain tissues between AD and control.

Top

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FTO

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_10271	chr16	53934030:53934109:53956683:53956789:53965721:53965858	53956683:53956789
exon_skip_105318	chr16	53704185:53704229:53764162:53764280:53810140:53810217	53764162:53764280
exon_skip_107489	chr16	54111762:54111889:54118381:54118806:54121376:54121902	54118381:54118806
exon_skip_116359	chr16	53810141:53810217:53814670:53814848:53825864:53825968	53814670:53814848
exon_skip_124140	chr16	53844155:53844298:53873786:53873865:53879844:53879987	53873786:53873865
exon_skip_132662	chr16	53810140:53810217:53814670:53814848:53825864:53825932	53814670:53814848
exon_skip_158458	chr16	53933985:53934109:53984938:53984954:54111762:54113166	53984938:53984954
exon_skip_192764	chr16	53704156:53704229:53764162:53764280:53810140:53810217	53764162:53764280
exon_skip_224299	chr16	53826361:53826491:53844155:53844298:53873786:53873865	53844155:53844298
exon_skip_228002	chr16	53704185:53704229:53810140:53810217:53825864:53825968	53810140:53810217
exon_skip_231421	chr16	53810140:53810217:53825864:53826491:53844155:53844241	53825864:53826491
exon_skip_232041	chr16	53933985:53934109:53984938:53984954:54111762:54111795	53984938:53984954
exon_skip_235487	chr16	53810140:53810217:53814670:53814848:53825864:53825968	53814670:53814848
exon_skip_252329	chr16	53933985:53934109:53984938:53984954:54111762:54114463	53984938:53984954
exon_skip_256473	chr16	53826465:53826491:53844155:53844298:53873786:53873865	53844155:53844298
exon_skip_273088	chr16	53810141:53810217:53825864:53826491:53844155:53844208	53825864:53826491
exon_skip_44692	chr16	53810140:53810217:53844155:53844298:53873786:53873865	53844155:53844298
exon_skip_49688	chr16	54111762:54111889:54118381:54118806:54121376:54121466	54118381:54118806
exon_skip_63850	chr16	53810140:53810217:53825864:53826491:53844155:53844193	53825864:53826491
exon_skip_80508	chr16	53933985:53934109:53984938:53984954:54111762:54113787	53984938:53984954
exon_skip_83793	chr16	53879844:53879987:53888832:53888951:53933985:53934109	53888832:53888951
exon_skip_89878	chr16	53873786:53873865:53879844:53879987:53888832:53888951	53879844:53879987

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

Top

Open reading frame (ORF) annotation in the exon skipping event for FTO

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000471389	53825864	53826491	Frame-shift
ENST00000471389	53873786	53873865	Frame-shift
ENST00000471389	53810140	53810217	In-frame
ENST00000471389	53844155	53844298	In-frame
ENST00000471389	53879844	53879987	In-frame
ENST00000471389	53888832	53888951	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000471389	53825864	53826491	Frame-shift
ENST00000471389	53873786	53873865	Frame-shift
ENST00000471389	53810140	53810217	In-frame
ENST00000471389	53844155	53844298	In-frame
ENST00000471389	53879844	53879987	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000471389	53825864	53826491	Frame-shift
ENST00000471389	53873786	53873865	Frame-shift
ENST00000471389	53810140	53810217	In-frame
ENST00000471389	53844155	53844298	In-frame
ENST00000471389	53879844	53879987	In-frame
ENST00000471389	53888832	53888951	In-frame

Top

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

p-ENSG00000140718_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000471389	11783	505	53810140	53810217	269	345	15	41
ENST00000471389	11783	505	53844155	53844298	975	1117	251	298
ENST00000471389	11783	505	53879844	53879987	1199	1341	325	373
ENST00000471389	11783	505	53888832	53888951	1343	1461	373	413

Loci of skipped exons in MSBB 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
ENST00000471389	11783	505	53810140	53810217	269	345	15	41
ENST00000471389	11783	505	53844155	53844298	975	1117	251	298
ENST00000471389	11783	505	53879844	53879987	1199	1341	325	373

Loci of skipped exons in Mayo 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
ENST00000471389	11783	505	53810140	53810217	269	345	15	41
ENST00000471389	11783	505	53844155	53844298	975	1117	251	298
ENST00000471389	11783	505	53879844	53879987	1199	1341	325	373
ENST00000471389	11783	505	53888832	53888951	1343	1461	373	413

Lost protein functional features of individual exon skipping events in ROSMAP.

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
Q9C0B1	15	41	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	15	41	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	15	41	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	15	41	35	37	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QKN
Q9C0B1	15	41	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	15	41	38	45	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	15	41	32	327	Region	Note=Fe2OG dioxygenase domain
Q9C0B1	251	298	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	251	298	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	251	298	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	251	298	271	276	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	280	282	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	284	288	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	293	297	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	295	295	Binding site	Note=Alpha-ketoglutarate
Q9C0B1	251	298	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	251	298	271	271	Natural variant	ID=VAR_076423;Note=Found in a patient with microcephaly%2C developmental delay%2C behavioral abnormalities%2C dysmorphic facial features%2C hypotonia and other various phenotypic abnormalities%3B unknown pathological significance. H->P;Ontology_term=ECO:0
Q9C0B1	251	298	32	327	Region	Note=Fe2OG dioxygenase domain
Q9C0B1	325	373	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	325	373	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	325	373	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	325	373	327	330	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F8P
Q9C0B1	325	373	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	325	373	331	342	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	325	373	361	377	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	325	373	32	327	Region	Note=Fe2OG dioxygenase domain
Q9C0B1	373	413	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	373	413	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	373	413	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	373	413	379	413	Alternative sequence	ID=VSP_025005;Note=In isoform 2. LRQFWFQGNRYRKCTDWWCQPMAQLEALWKKMEGV->MEWRKVSECNSVEPCREVKKWPYRCIHHGKNFSRM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	373	413	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	373	413	361	377	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	373	413	379	384	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	373	413	389	391	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	373	413	397	422	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	373	413	392	392	Mutagenesis	Note=Perturbs interaction between N-terminal and C-terminal domains and strongly reduces enzyme activity. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20376003;Dbxref=PMID:20376003
Q9C0B1	373	413	405	405	Natural variant	ID=VAR_032078;Note=A->V;Dbxref=dbSNP:rs16952624
Q9C0B1	373	413	385	387	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5

Lost protein functional features of individual exon skipping events in MSBB.

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
Q9C0B1	15	41	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	15	41	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	15	41	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	15	41	35	37	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QKN
Q9C0B1	15	41	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	15	41	38	45	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	15	41	32	327	Region	Note=Fe2OG dioxygenase domain
Q9C0B1	251	298	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	251	298	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	251	298	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	251	298	271	276	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	280	282	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	284	288	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	293	297	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	295	295	Binding site	Note=Alpha-ketoglutarate
Q9C0B1	251	298	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	251	298	271	271	Natural variant	ID=VAR_076423;Note=Found in a patient with microcephaly%2C developmental delay%2C behavioral abnormalities%2C dysmorphic facial features%2C hypotonia and other various phenotypic abnormalities%3B unknown pathological significance. H->P;Ontology_term=ECO:0
Q9C0B1	251	298	32	327	Region	Note=Fe2OG dioxygenase domain
Q9C0B1	325	373	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	325	373	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	325	373	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	325	373	327	330	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F8P
Q9C0B1	325	373	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	325	373	331	342	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	325	373	361	377	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	325	373	32	327	Region	Note=Fe2OG dioxygenase domain

Lost protein functional features of individual exon skipping events in Mayo.

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
Q9C0B1	15	41	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	15	41	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	15	41	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	15	41	35	37	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QKN
Q9C0B1	15	41	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	15	41	38	45	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	15	41	32	327	Region	Note=Fe2OG dioxygenase domain
Q9C0B1	251	298	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	251	298	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	251	298	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	251	298	271	276	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	280	282	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	284	288	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	293	297	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	251	298	295	295	Binding site	Note=Alpha-ketoglutarate
Q9C0B1	251	298	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	251	298	271	271	Natural variant	ID=VAR_076423;Note=Found in a patient with microcephaly%2C developmental delay%2C behavioral abnormalities%2C dysmorphic facial features%2C hypotonia and other various phenotypic abnormalities%3B unknown pathological significance. H->P;Ontology_term=ECO:0
Q9C0B1	251	298	32	327	Region	Note=Fe2OG dioxygenase domain
Q9C0B1	325	373	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	325	373	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	325	373	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	325	373	327	330	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F8P
Q9C0B1	325	373	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	325	373	331	342	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	325	373	361	377	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	325	373	32	327	Region	Note=Fe2OG dioxygenase domain
Q9C0B1	373	413	1	445	Alternative sequence	ID=VSP_025002;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	373	413	1	399	Alternative sequence	ID=VSP_025003;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	373	413	1	378	Alternative sequence	ID=VSP_025004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	373	413	379	413	Alternative sequence	ID=VSP_025005;Note=In isoform 2. LRQFWFQGNRYRKCTDWWCQPMAQLEALWKKMEGV->MEWRKVSECNSVEPCREVKKWPYRCIHHGKNFSRM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9C0B1	373	413	1	505	Chain	ID=PRO_0000286163;Note=Alpha-ketoglutarate-dependent dioxygenase FTO
Q9C0B1	373	413	361	377	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	373	413	379	384	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	373	413	389	391	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	373	413	397	422	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5
Q9C0B1	373	413	392	392	Mutagenesis	Note=Perturbs interaction between N-terminal and C-terminal domains and strongly reduces enzyme activity. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20376003;Dbxref=PMID:20376003
Q9C0B1	373	413	405	405	Natural variant	ID=VAR_032078;Note=A->V;Dbxref=dbSNP:rs16952624
Q9C0B1	373	413	385	387	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IE5

Top

3'-UTR located exon skipping events that lost miRNA binding sites in FTO

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

Top

SNVs in the skipped exons for FTO

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

Top

AD stage-associated exon skippint events for FTO

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

ADstage

MSBB

IFG

exon_skip_89878

3.914464e-01

3.940569e-02

chr16

53873786

53873865

53879844

53879987

53888832

53888951

CDR

MSBB

IFG

exon_skip_231421

4.209727e-01

2.569137e-02

chr16

53810140

53810217

53825864

53826491

53844155

53844241

Top

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

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

Top

Correlation with RNA binding proteins (RBPs) for FTO

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

Top

RelatedDrugs for FTO

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

RelatedDiseases for FTO

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

Home

Download

Statistics

Landscape

Help

Contact

Gene summary for FTO

Gene structures and expression levels for FTO

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FTO

Open reading frame (ORF) annotation in the exon skipping event for FTO

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

3'-UTR located exon skipping events that lost miRNA binding sites in FTO

SNVs in the skipped exons for FTO

AD stage-associated exon skippint events for FTO

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

Correlation with RNA binding proteins (RBPs) for FTO

RelatedDrugs for FTO

RelatedDiseases for FTO