ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for FNBP1

Gene summary

Gene information	Gene symbol	FNBP1
	Gene ID	23048
	Gene name	formin binding protein 1
	Synonyms	FBP17
	Cytomap	9q34.11
	Type of gene	protein-coding
	Description	formin-binding protein 1formin-binding protein 17
	Modification date	20200313
	UniProtAcc	B7ZL13, B7ZL14, H0Y7W6, Q96RU3,
	Context

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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Gene structures and expression levels for FNBP1

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.

ENSG00000187239

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
TC	DOWN	ENST00000443566.6	FNBP1-203:protein_coding:FNBP1	1.002886e+03	-1.200121e+00	4.248427e-12	1.239229e-09

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 FNBP1

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_112208	chr9	129899993:129900101:129900426:129900547:129902869:129903001	129900426:129900547
exon_skip_127987	chr9	129929567:129929695:129957360:129957464:129958491:129958553	129957360:129957464
exon_skip_139570	chr9	129929567:129929695:129957360:129957464:129958491:129958552	129957360:129957464
exon_skip_167084	chr9	129957360:129957464:129958491:129958553:129978465:129978510	129958491:129958553
exon_skip_172379	chr9	129902908:129903001:129908890:129908999:129923844:129923939	129908890:129908999
exon_skip_189370	chr9	129958491:129958553:129978465:129978612:129979318:129979374	129978465:129978612
exon_skip_206853	chr9	129927195:129927341:129929567:129929695:129957360:129957464	129929567:129929695
exon_skip_220910	chr9	129908890:129908999:129923844:129924026:129924960:129925069	129923844:129924026
exon_skip_264537	chr9	129887187:129890546:129895838:129895996:129899965:129900101	129895838:129895996
exon_skip_27501	chr9	129915966:129915980:129923844:129924026:129924960:129925069	129923844:129924026
exon_skip_286402	chr9	129902908:129903001:129908890:129908999:129915966:129915980	129908890:129908999
exon_skip_2940	chr9	129902908:129903001:129908890:129908999:129924960:129925069	129908890:129908999
exon_skip_44365	chr9	129908890:129908999:129915966:129915980:129923844:129923939	129915966:129915980
exon_skip_4654	chr9	129924960:129925157:129927195:129927341:129929567:129929695	129927195:129927341
exon_skip_57635	chr9	129957360:129957464:129958491:129958553:129978465:129978612	129958491:129958553
exon_skip_63653	chr9	129915966:129915980:129923844:129923939:129924960:129925069	129923844:129923939
exon_skip_65256	chr9	129895838:129895996:129899965:129900101:129900426:129900532	129899965:129900101
exon_skip_83113	chr9	129915966:129915980:129923844:129923939:129924960:129925157	129923844:129923939
exon_skip_87255	chr9	129908890:129908999:129923844:129923996:129924960:129925069	129923844:129923996
exon_skip_90736	chr9	129900426:129900547:129902869:129903001:129908890:129908999	129902869:129903001

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 FNBP1

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
ENST00000446176	129899965	129900101	Frame-shift
ENST00000446176	129902869	129903001	Frame-shift
ENST00000446176	129915966	129915980	In-frame
ENST00000446176	129923844	129924026	In-frame
ENST00000446176	129929567	129929695	In-frame
ENST00000446176	129957360	129957464	In-frame
ENST00000446176	129958491	129958553	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
ENST00000446176	129899965	129900101	Frame-shift
ENST00000446176	129978465	129978612	Frame-shift
ENST00000446176	129915966	129915980	In-frame
ENST00000446176	129923844	129924026	In-frame
ENST00000446176	129957360	129957464	In-frame
ENST00000446176	129958491	129958553	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
ENST00000446176	129899965	129900101	Frame-shift
ENST00000446176	129900426	129900547	Frame-shift
ENST00000446176	129902869	129903001	Frame-shift
ENST00000446176	129908890	129908999	Frame-shift
ENST00000446176	129978465	129978612	Frame-shift
ENST00000446176	129895838	129895996	In-frame
ENST00000446176	129915966	129915980	In-frame
ENST00000446176	129923844	129924026	In-frame
ENST00000446176	129927195	129927341	In-frame
ENST00000446176	129929567	129929695	In-frame
ENST00000446176	129957360	129957464	In-frame
ENST00000446176	129958491	129958553	In-frame

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Infer the effects of exon skipping event on protein functional features for FNBP1

p-ENSG00000187239_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
ENST00000446176	5410	617	129958491	129958553	533	594	115	135
ENST00000446176	5410	617	129957360	129957464	596	699	136	170
ENST00000446176	5410	617	129929567	129929695	701	828	171	213
ENST00000446176	5410	617	129923844	129924026	1175	1356	329	389

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
ENST00000446176	5410	617	129958491	129958553	533	594	115	135
ENST00000446176	5410	617	129957360	129957464	596	699	136	170
ENST00000446176	5410	617	129923844	129924026	1175	1356	329	389

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
ENST00000446176	5410	617	129958491	129958553	533	594	115	135
ENST00000446176	5410	617	129957360	129957464	596	699	136	170
ENST00000446176	5410	617	129929567	129929695	701	828	171	213
ENST00000446176	5410	617	129927195	129927341	830	975	214	262
ENST00000446176	5410	617	129923844	129924026	1175	1356	329	389
ENST00000446176	5410	617	129895838	129895996	1875	2032	562	615

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
Q96RU3	115	135	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	115	135	67	259	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	115	135	1	264	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
Q96RU3	115	135	68	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	115	135	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	136	170	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	136	170	67	259	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	1	264	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
Q96RU3	136	170	68	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	136	170	166	206	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	136	170	165	165	Mutagenesis	Note=Abolishes membrane invagination. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	166	166	Mutagenesis	Note=Abolishes membrane invagination. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	168	168	Mutagenesis	Note=No significant effect. D->A%2CN%2CR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	136	170	166	166	Site	Note=Mediates end-to-end attachment of dimers
Q96RU3	171	213	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	171	213	67	259	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	171	213	1	264	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
Q96RU3	171	213	166	206	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	171	213	208	238	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	171	213	210	210	Mutagenesis	Note=Disrupts helix kink and moderately increases diameter of the induced tubular membrane. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	171	213	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	329	389	329	394	Alternative sequence	ID=VSP_021693;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96RU3	329	389	330	358	Alternative sequence	ID=VSP_021694;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96RU3	329	389	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	329	389	340	345	Compositional bias	Note=Poly-Pro
Q96RU3	329	389	349	349	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q96RU3	329	389	359	359	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID
Q96RU3	329	389	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	329	389	251	617	Region	Note=Required for self-association and induction of membrane tubulation
Q96RU3	329	389	388	388	Sequence conflict	Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q96RU3	115	135	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	115	135	67	259	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	115	135	1	264	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
Q96RU3	115	135	68	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	115	135	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	136	170	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	136	170	67	259	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	1	264	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
Q96RU3	136	170	68	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	136	170	166	206	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	136	170	165	165	Mutagenesis	Note=Abolishes membrane invagination. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	166	166	Mutagenesis	Note=Abolishes membrane invagination. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	168	168	Mutagenesis	Note=No significant effect. D->A%2CN%2CR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	136	170	166	166	Site	Note=Mediates end-to-end attachment of dimers
Q96RU3	329	389	329	394	Alternative sequence	ID=VSP_021693;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96RU3	329	389	330	358	Alternative sequence	ID=VSP_021694;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96RU3	329	389	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	329	389	340	345	Compositional bias	Note=Poly-Pro
Q96RU3	329	389	349	349	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q96RU3	329	389	359	359	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID
Q96RU3	329	389	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	329	389	251	617	Region	Note=Required for self-association and induction of membrane tubulation
Q96RU3	329	389	388	388	Sequence conflict	Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q96RU3	115	135	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	115	135	67	259	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	115	135	1	264	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
Q96RU3	115	135	68	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	115	135	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	136	170	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	136	170	67	259	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	1	264	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
Q96RU3	136	170	68	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	136	170	166	206	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	136	170	165	165	Mutagenesis	Note=Abolishes membrane invagination. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	166	166	Mutagenesis	Note=Abolishes membrane invagination. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	168	168	Mutagenesis	Note=No significant effect. D->A%2CN%2CR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	136	170	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	136	170	166	166	Site	Note=Mediates end-to-end attachment of dimers
Q96RU3	171	213	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	171	213	67	259	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	171	213	1	264	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
Q96RU3	171	213	166	206	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	171	213	208	238	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	171	213	210	210	Mutagenesis	Note=Disrupts helix kink and moderately increases diameter of the induced tubular membrane. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	171	213	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	214	262	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	214	262	67	259	Coiled coil	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17512409;Dbxref=PMID:17512409
Q96RU3	214	262	1	264	Domain	Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01077
Q96RU3	214	262	208	238	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	214	262	241	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	214	262	261	272	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2EFL
Q96RU3	214	262	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	214	262	251	617	Region	Note=Required for self-association and induction of membrane tubulation
Q96RU3	329	389	329	394	Alternative sequence	ID=VSP_021693;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96RU3	329	389	330	358	Alternative sequence	ID=VSP_021694;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96RU3	329	389	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	329	389	340	345	Compositional bias	Note=Poly-Pro
Q96RU3	329	389	349	349	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q96RU3	329	389	359	359	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID
Q96RU3	329	389	1	335	Region	Note=Interaction with microtubules;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	329	389	251	617	Region	Note=Required for self-association and induction of membrane tubulation
Q96RU3	329	389	388	388	Sequence conflict	Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RU3	562	615	1	617	Chain	ID=PRO_0000261430;Note=Formin-binding protein 1
Q96RU3	562	615	550	611	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
Q96RU3	562	615	602	602	Mutagenesis	Note=Abrogates interaction with DNM1%2C DNM2 and DNM3. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15252009;Dbxref=PMID:15252009
Q96RU3	562	615	251	617	Region	Note=Required for self-association and induction of membrane tubulation
Q96RU3	562	615	495	617	Region	Note=Interaction with PDE6G;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RU3	562	615	514	617	Region	Note=Required for interaction with TNKS;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14596906;Dbxref=PMID:14596906
Q96RU3	562	615	535	617	Region	Note=Interaction with DNM1 and DNM3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15252009;Dbxref=PMID:15252009
Q96RU3	562	615	550	617	Region	Note=Interaction with ARHGAP17%2C DAAM1%2C DIAPH1 and DIAPH2;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11431473,ECO:0000269\|PubMed:16630611;Dbxref=PMID:11431473,PMID:16630611
Q96RU3	562	615	553	610	Region	Note=Interaction with FASLG
Q96RU3	562	615	553	609	Region	Note=Interaction with DNM2 and WASL

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3'-UTR located exon skipping events that lost miRNA binding sites in FNBP1

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 FNBP1

- 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 FNBP1

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

ROSMAP

HCC

exon_skip_44365

3.098338e-01

1.740000e-07

chr9

129908890

129908999

129915966

129915980

129923844

129923939

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FNBP1

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for FNBP1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RALYL	exon_skip_44365	5.004532e-01	1.852682e-11
CB	RBM3	exon_skip_191062	4.787689e-01	9.803791e-10
CB	TRA2A	exon_skip_191062	-4.815455e-01	7.597250e-10
CB	HNRNPA1	exon_skip_191062	4.383387e-01	3.137898e-08
CB	FUBP1	exon_skip_191062	-4.177420e-01	1.553520e-07
CB	RBM45	exon_skip_191062	6.104802e-01	2.820825e-16
CB	NUP42	exon_skip_191062	5.466122e-01	9.525638e-13
CB	RBM3	exon_skip_121657	4.556916e-01	1.583215e-09
CB	TRA2A	exon_skip_121657	-4.803290e-01	1.482146e-10
CB	HNRNPA1	exon_skip_121657	5.274991e-01	9.065075e-13
CB	FUBP1	exon_skip_121657	-4.406039e-01	6.170052e-09
CB	PTBP1	exon_skip_121657	-4.720075e-01	3.369032e-10
CB	RBM3	exon_skip_291291	4.501065e-01	1.066443e-08
CB	TRA2A	exon_skip_291291	-4.627817e-01	3.600268e-09
CB	HNRNPA1	exon_skip_291291	4.462138e-01	1.475539e-08
CB	FUBP1	exon_skip_291291	-4.360048e-01	3.392287e-08
CB	NUP42	exon_skip_63653	4.331918e-01	2.006492e-08
CB	RC3H1	exon_skip_27501	-4.086813e-01	8.892231e-08
CB	NUP42	exon_skip_160643	5.151054e-01	3.381664e-11
IFG	HNRNPA1	exon_skip_121657	5.185721e-01	5.584327e-03
IFG	HNRNPA2B1	exon_skip_121657	4.060694e-01	3.558174e-02
TC	RBM3	exon_skip_291291	4.125519e-01	2.336089e-06
TC	HNRNPA1	exon_skip_291291	4.187895e-01	1.581780e-06

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RelatedDrugs for FNBP1

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for FNBP1

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 FNBP1

Gene structures and expression levels for FNBP1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FNBP1

Open reading frame (ORF) annotation in the exon skipping event for FNBP1

Infer the effects of exon skipping event on protein functional features for FNBP1

3'-UTR located exon skipping events that lost miRNA binding sites in FNBP1

SNVs in the skipped exons for FNBP1

AD stage-associated exon skippint events for FNBP1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FNBP1

Correlation with RNA binding proteins (RBPs) for FNBP1

RelatedDrugs for FNBP1

RelatedDiseases for FNBP1