ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for FHIT

Gene summary

Gene information	Gene symbol	FHIT
	Gene ID	2272
	Gene name	fragile histidine triad diadenosine triphosphatase
	Synonyms	AP3Aase\|FRA3B
	Cytomap	3p14.2
	Type of gene	protein-coding
	Description	bis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatase
	Modification date	20200313
	UniProtAcc	A0A024R366, A0A0A0MRB0, E9PBZ0, O00298, P49789, Q0MQR8, Q0PUW1, Q194U8, Q194U9, Q194V0, Q1WAB3, Q1WAB4, Q5G284, Q71VB2,
	Context	- 26159197(A Co-Module Regulated by Therapeutic Drugs in a Molecular Subnetwork of Alzheimer's Disease Identified on the Basis of Traditional Chinese Medicine and SAMP8 Mice.)

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

Gene	GO ID	GO term	PubMed ID
FHIT	GO:0006163	purine nucleotide metabolic process	9323207

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Gene structures and expression levels for FHIT

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.

ENSG00000189283

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.

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

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_241597	chr3	59749702:59752321:59886220:59886287:59922346:59922414	59886220:59886287
exon_skip_260171	chr3	59922346:59922414:60011371:60011400:60014007:60014075	60011371:60011400
exon_skip_48770	chr3	59752221:59752321:59922346:59922414:60011371:60011400	59922346:59922414
exon_skip_74430	chr3	60536860:60536979:60765524:60765563:60821919:60822011	60765524:60765563

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

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

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
ENST00000468189	59922346	59922414	In-frame
ENST00000476844	59922346	59922414	In-frame
ENST00000492590	59922346	59922414	In-frame
ENST00000468189	60011371	60011400	In-frame
ENST00000476844	60011371	60011400	In-frame
ENST00000492590	60011371	60011400	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
ENST00000468189	59922346	59922414	In-frame
ENST00000476844	59922346	59922414	In-frame
ENST00000492590	59922346	59922414	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
ENST00000468189	59922346	59922414	In-frame
ENST00000476844	59922346	59922414	In-frame
ENST00000492590	59922346	59922414	In-frame
ENST00000468189	60011371	60011400	In-frame
ENST00000476844	60011371	60011400	In-frame
ENST00000492590	60011371	60011400	In-frame

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

p-ENSG00000189283_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
ENST00000468189	1651	147	60011371	60011400	621	649	83	92
ENST00000476844	1050	147	60011371	60011400	575	603	83	92
ENST00000492590	1098	147	60011371	60011400	612	640	83	92
ENST00000468189	1651	147	59922346	59922414	651	718	93	115
ENST00000476844	1050	147	59922346	59922414	605	672	93	115
ENST00000492590	1098	147	59922346	59922414	642	709	93	115

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
ENST00000468189	1651	147	59922346	59922414	651	718	93	115
ENST00000476844	1050	147	59922346	59922414	605	672	93	115
ENST00000492590	1098	147	59922346	59922414	642	709	93	115

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
ENST00000468189	1651	147	60011371	60011400	621	649	83	92
ENST00000476844	1050	147	60011371	60011400	575	603	83	92
ENST00000492590	1098	147	60011371	60011400	612	640	83	92
ENST00000468189	1651	147	59922346	59922414	651	718	93	115
ENST00000476844	1050	147	59922346	59922414	605	672	93	115
ENST00000492590	1098	147	59922346	59922414	642	709	93	115

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
P49789	83	92	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	83	83	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	83	92	83	83	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	83	92	83	83	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	83	92	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	83	92	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	83	92	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	83	92	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	83	92	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	83	92	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	83	92	86	88	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	86	88	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	86	88	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	89	92	Nucleotide binding	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	83	92	89	92	Nucleotide binding	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	83	92	89	92	Nucleotide binding	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	96	96	Active site	Note=Tele-AMP-histidine intermediate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:9323207;Dbxref=PMID:15182206,PMID:9323207
P49789	93	115	96	96	Active site	Note=Tele-AMP-histidine intermediate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:9323207;Dbxref=PMID:15182206,PMID:9323207
P49789	93	115	96	96	Active site	Note=Tele-AMP-histidine intermediate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:9323207;Dbxref=PMID:15182206,PMID:9323207
P49789	93	115	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	97	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	97	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	97	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	98	98	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	98	98	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	98	98	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	93	115	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	93	115	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	93	115	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	114	114	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15007172;Dbxref=PMID:15007172
P49789	93	115	114	114	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15007172;Dbxref=PMID:15007172
P49789	93	115	114	114	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15007172;Dbxref=PMID:15007172
P49789	93	115	94	98	Motif	Note=Histidine triad motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	94	98	Motif	Note=Histidine triad motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	94	98	Motif	Note=Histidine triad motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	94	94	Mutagenesis	Note=75%25 decrease in catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	94	94	Mutagenesis	Note=75%25 decrease in catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	94	94	Mutagenesis	Note=75%25 decrease in catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	96	96	Mutagenesis	Note=Loss of catalytic activity. H->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;Dbxref=PMID:12574506,PMID:15182206,P
P49789	93	115	96	96	Mutagenesis	Note=Loss of catalytic activity. H->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;Dbxref=PMID:12574506,PMID:15182206,P
P49789	93	115	96	96	Mutagenesis	Note=Loss of catalytic activity. H->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;Dbxref=PMID:12574506,PMID:15182206,P
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. Rescuable with free imidazole. H->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. Rescuable with free imidazole. H->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. Rescuable with free imidazole. H->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;
P49789	93	115	98	98	Mutagenesis	Note=98%25 decrease in catalytic activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	98	98	Mutagenesis	Note=98%25 decrease in catalytic activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	98	98	Mutagenesis	Note=98%25 decrease in catalytic activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Strongly reduced affinity for substrates. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Strongly reduced affinity for substrates. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Strongly reduced affinity for substrates. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Reduces affinity for substrates. Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Reduces affinity for substrates. Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Reduces affinity for substrates. Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Loss of phosphorylation by SRC. Impairs induction of apoptosis. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Loss of phosphorylation by SRC. Impairs induction of apoptosis. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Loss of phosphorylation by SRC. Impairs induction of apoptosis. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Site	Note=Important for induction of apoptosis
P49789	93	115	114	114	Site	Note=Important for induction of apoptosis
P49789	93	115	114	114	Site	Note=Important for induction of apoptosis

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
P49789	93	115	96	96	Active site	Note=Tele-AMP-histidine intermediate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:9323207;Dbxref=PMID:15182206,PMID:9323207
P49789	93	115	96	96	Active site	Note=Tele-AMP-histidine intermediate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:9323207;Dbxref=PMID:15182206,PMID:9323207
P49789	93	115	96	96	Active site	Note=Tele-AMP-histidine intermediate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:9323207;Dbxref=PMID:15182206,PMID:9323207
P49789	93	115	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	97	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	97	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	97	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	98	98	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	98	98	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	98	98	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	93	115	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	93	115	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	93	115	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	114	114	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15007172;Dbxref=PMID:15007172
P49789	93	115	114	114	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15007172;Dbxref=PMID:15007172
P49789	93	115	114	114	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15007172;Dbxref=PMID:15007172
P49789	93	115	94	98	Motif	Note=Histidine triad motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	94	98	Motif	Note=Histidine triad motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	94	98	Motif	Note=Histidine triad motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	94	94	Mutagenesis	Note=75%25 decrease in catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	94	94	Mutagenesis	Note=75%25 decrease in catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	94	94	Mutagenesis	Note=75%25 decrease in catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	96	96	Mutagenesis	Note=Loss of catalytic activity. H->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;Dbxref=PMID:12574506,PMID:15182206,P
P49789	93	115	96	96	Mutagenesis	Note=Loss of catalytic activity. H->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;Dbxref=PMID:12574506,PMID:15182206,P
P49789	93	115	96	96	Mutagenesis	Note=Loss of catalytic activity. H->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;Dbxref=PMID:12574506,PMID:15182206,P
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. Rescuable with free imidazole. H->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. Rescuable with free imidazole. H->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. Rescuable with free imidazole. H->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;
P49789	93	115	98	98	Mutagenesis	Note=98%25 decrease in catalytic activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	98	98	Mutagenesis	Note=98%25 decrease in catalytic activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	98	98	Mutagenesis	Note=98%25 decrease in catalytic activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Strongly reduced affinity for substrates. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Strongly reduced affinity for substrates. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Strongly reduced affinity for substrates. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Reduces affinity for substrates. Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Reduces affinity for substrates. Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Reduces affinity for substrates. Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Loss of phosphorylation by SRC. Impairs induction of apoptosis. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Loss of phosphorylation by SRC. Impairs induction of apoptosis. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Loss of phosphorylation by SRC. Impairs induction of apoptosis. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Site	Note=Important for induction of apoptosis
P49789	93	115	114	114	Site	Note=Important for induction of apoptosis
P49789	93	115	114	114	Site	Note=Important for induction of apoptosis

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
P49789	83	92	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	83	83	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	83	92	83	83	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	83	92	83	83	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	83	92	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	83	92	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	83	92	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	83	92	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	83	92	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	83	92	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	83	92	86	88	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	86	88	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	86	88	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	83	92	89	92	Nucleotide binding	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	83	92	89	92	Nucleotide binding	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	83	92	89	92	Nucleotide binding	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	96	96	Active site	Note=Tele-AMP-histidine intermediate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:9323207;Dbxref=PMID:15182206,PMID:9323207
P49789	93	115	96	96	Active site	Note=Tele-AMP-histidine intermediate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:9323207;Dbxref=PMID:15182206,PMID:9323207
P49789	93	115	96	96	Active site	Note=Tele-AMP-histidine intermediate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:9323207;Dbxref=PMID:15182206,PMID:9323207
P49789	93	115	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	92	94	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	97	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	97	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	97	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1FIT
P49789	93	115	98	98	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	98	98	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	98	98	Binding site	Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PDB:5FIT,ECO:0000269\|PubMed:9323207;Dbxref=PMID:9323207
P49789	93	115	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	93	115	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	93	115	1	147	Chain	ID=PRO_0000109789;Note=Bis(5'-adenosyl)-triphosphatase
P49789	93	115	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	2	109	Domain	Note=HIT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	114	114	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15007172;Dbxref=PMID:15007172
P49789	93	115	114	114	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15007172;Dbxref=PMID:15007172
P49789	93	115	114	114	Modified residue	Note=Phosphotyrosine%3B by SRC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15007172;Dbxref=PMID:15007172
P49789	93	115	94	98	Motif	Note=Histidine triad motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	94	98	Motif	Note=Histidine triad motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	94	98	Motif	Note=Histidine triad motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00464
P49789	93	115	94	94	Mutagenesis	Note=75%25 decrease in catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	94	94	Mutagenesis	Note=75%25 decrease in catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	94	94	Mutagenesis	Note=75%25 decrease in catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	96	96	Mutagenesis	Note=Loss of catalytic activity. H->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;Dbxref=PMID:12574506,PMID:15182206,P
P49789	93	115	96	96	Mutagenesis	Note=Loss of catalytic activity. H->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;Dbxref=PMID:12574506,PMID:15182206,P
P49789	93	115	96	96	Mutagenesis	Note=Loss of catalytic activity. H->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;Dbxref=PMID:12574506,PMID:15182206,P
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. Rescuable with free imidazole. H->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. Rescuable with free imidazole. H->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. Rescuable with free imidazole. H->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;
P49789	93	115	96	96	Mutagenesis	Note=Total loss of catalytic activity. No loss in substrate binding. H->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12574506,ECO:0000269\|PubMed:15182206,ECO:0000269\|PubMed:8794732,ECO:0000269\|PubMed:9576908;
P49789	93	115	98	98	Mutagenesis	Note=98%25 decrease in catalytic activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	98	98	Mutagenesis	Note=98%25 decrease in catalytic activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	98	98	Mutagenesis	Note=98%25 decrease in catalytic activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8794732;Dbxref=PMID:8794732
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Strongly reduced affinity for substrates. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Strongly reduced affinity for substrates. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Strongly reduced affinity for substrates. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Reduces affinity for substrates. Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Reduces affinity for substrates. Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Impairs induction of apoptosis. Reduces affinity for substrates. Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Loss of phosphorylation by SRC. Impairs induction of apoptosis. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Loss of phosphorylation by SRC. Impairs induction of apoptosis. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Mutagenesis	Note=Loss of phosphorylation by SRC. Impairs induction of apoptosis. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15007172,ECO:0000269\|PubMed:16407838;Dbxref=PMID:15007172,PMID:16407838
P49789	93	115	114	114	Site	Note=Important for induction of apoptosis
P49789	93	115	114	114	Site	Note=Important for induction of apoptosis
P49789	93	115	114	114	Site	Note=Important for induction of apoptosis

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

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

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SNVs in the skipped exons for FHIT

- 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

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AD stage-associated exon skippint events for FHIT

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

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

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
DLPFC	exon_skip_48770	rs3772501	chr3:59992977	2.944511e-04	2.121460e-02

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Correlation with RNA binding proteins (RBPs) for FHIT

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for FHIT

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P49789	approved\|experimental	DB04173	Fructose	small molecule	P49789

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RelatedDiseases for FHIT

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

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Gene summary for FHIT

Gene structures and expression levels for FHIT

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

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

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

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

SNVs in the skipped exons for FHIT

AD stage-associated exon skippint events for FHIT

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

Correlation with RNA binding proteins (RBPs) for FHIT

RelatedDrugs for FHIT

RelatedDiseases for FHIT