ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RBFOX1

Gene summary

Gene information	Gene symbol	RBFOX1
	Gene ID	54715
	Gene name	RNA binding fox-1 homolog 1
	Synonyms	2BP1\|A2BP1\|FOX-1\|FOX1\|HRNBP1
	Cytomap	16p13.3
	Type of gene	protein-coding
	Description	RNA binding protein fox-1 homolog 1RNA binding protein, fox-1 homolog 1ataxin 2-binding protein 1fox-1 homolog Afox-1-like RNA-binding protein 1hexaribonucleotide binding protein 1 isoform alphahexaribonucleotide binding protein 1 isoform betahexar
	Modification date	20180523
	UniProtAcc	Q9NWB1
	Context	PubMed: RBFOX1 [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 RBFOX1 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 RBFOX1

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 RBFOX1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_133196	16	6704603:6704651:7033639:7033739:7102057:7102099	7033639:7033739	ENSG00000078328.15	ENST00000547427.1
exon_skip_133197	16	7568148:7568391:7629778:7629922:7637248:7637302	7629778:7629922	ENSG00000078328.15	ENST00000547372.1,ENST00000551752.1,ENST00000422070.4,ENST00000550418.1,ENST00000355637.4,ENST00000436368.2,ENST00000570626.1,ENST00000547338.1,ENST00000311745.5,ENST00000553186.1,ENST00000340209.4
exon_skip_133198	16	7568148:7568391:7629781:7629922:7637248:7637302	7629781:7629922	ENSG00000078328.15	ENST00000547605.1
exon_skip_133200	16	7637248:7637302:7645550:7645643:7647372:7647433	7645550:7645643	ENSG00000078328.15	ENST00000547372.1,ENST00000547605.1,ENST00000551752.1,ENST00000422070.4,ENST00000550418.1,ENST00000355637.4,ENST00000436368.2,ENST00000547338.1,ENST00000311745.5,ENST00000553186.1,ENST00000340209.4
exon_skip_133201	16	7657286:7657340:7680604:7680685:7703816:7703848	7680604:7680685	ENSG00000078328.15	ENST00000547372.1,ENST00000547605.1,ENST00000535565.2,ENST00000551752.1,ENST00000422070.4,ENST00000550418.1,ENST00000355637.4,ENST00000436368.2,ENST00000547338.1,ENST00000552089.1,ENST00000311745.5,ENST00000340209.4
exon_skip_133203	16	7703867:7703949:7714930:7714970:7726775:7726840	7714930:7714970	ENSG00000078328.15	ENST00000547372.1,ENST00000535565.2,ENST00000422070.4,ENST00000550418.1,ENST00000547338.1,ENST00000552089.1,ENST00000553186.1,ENST00000340209.4
exon_skip_133204	16	7703867:7703949:7721558:7721601:7726775:7726840	7721558:7721601	ENSG00000078328.15	ENST00000355637.4,ENST00000436368.2,ENST00000311745.5
exon_skip_133206	16	7726775:7726840:7743316:7743369:7759057:7759133	7743316:7743369	ENSG00000078328.15	ENST00000547372.1,ENST00000535565.2,ENST00000355637.4,ENST00000552089.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RBFOX1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_133196	16	6704603:6704651:7033639:7033739:7102057:7102099	7033639:7033739	ENSG00000078328.15	ENST00000547427.1
exon_skip_133197	16	7568148:7568391:7629778:7629922:7637248:7637302	7629778:7629922	ENSG00000078328.15	ENST00000550418.1,ENST00000553186.1,ENST00000547372.1,ENST00000422070.4,ENST00000551752.1,ENST00000547338.1,ENST00000436368.2,ENST00000311745.5,ENST00000355637.4,ENST00000340209.4,ENST00000570626.1
exon_skip_133198	16	7568148:7568391:7629781:7629922:7637248:7637302	7629781:7629922	ENSG00000078328.15	ENST00000547605.1
exon_skip_133199	16	7629781:7629922:7637248:7637302:7645550:7645643	7637248:7637302	ENSG00000078328.15	ENST00000547605.1,ENST00000550418.1,ENST00000553186.1,ENST00000547372.1,ENST00000422070.4,ENST00000551752.1,ENST00000547338.1,ENST00000436368.2,ENST00000311745.5,ENST00000355637.4,ENST00000340209.4,ENST00000570626.1
exon_skip_133200	16	7637248:7637302:7645550:7645643:7647372:7647433	7645550:7645643	ENSG00000078328.15	ENST00000547605.1,ENST00000550418.1,ENST00000553186.1,ENST00000547372.1,ENST00000422070.4,ENST00000551752.1,ENST00000547338.1,ENST00000436368.2,ENST00000311745.5,ENST00000355637.4,ENST00000340209.4
exon_skip_133201	16	7657286:7657340:7680604:7680685:7703816:7703848	7680604:7680685	ENSG00000078328.15	ENST00000547605.1,ENST00000550418.1,ENST00000547372.1,ENST00000422070.4,ENST00000535565.2,ENST00000552089.1,ENST00000551752.1,ENST00000547338.1,ENST00000436368.2,ENST00000311745.5,ENST00000355637.4,ENST00000340209.4
exon_skip_133203	16	7703867:7703949:7714930:7714970:7726775:7726840	7714930:7714970	ENSG00000078328.15	ENST00000550418.1,ENST00000553186.1,ENST00000547372.1,ENST00000422070.4,ENST00000535565.2,ENST00000552089.1,ENST00000547338.1,ENST00000340209.4
exon_skip_133204	16	7703867:7703949:7721558:7721601:7726775:7726840	7721558:7721601	ENSG00000078328.15	ENST00000436368.2,ENST00000311745.5,ENST00000355637.4
exon_skip_133206	16	7726775:7726840:7743316:7743369:7759057:7759133	7743316:7743369	ENSG00000078328.15	ENST00000547372.1,ENST00000535565.2,ENST00000552089.1,ENST00000355637.4

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 RBFOX1

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
ENST00000547338	7714930	7714970	Frame-shift
ENST00000550418	7714930	7714970	Frame-shift
ENST00000547338	7629778	7629922	In-frame
ENST00000550418	7629778	7629922	In-frame
ENST00000547338	7645550	7645643	In-frame
ENST00000550418	7645550	7645643	In-frame
ENST00000547338	7680604	7680685	In-frame
ENST00000550418	7680604	7680685	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
ENST00000547338	7714930	7714970	Frame-shift
ENST00000550418	7714930	7714970	Frame-shift
ENST00000547338	7629778	7629922	In-frame
ENST00000550418	7629778	7629922	In-frame
ENST00000547338	7637248	7637302	In-frame
ENST00000550418	7637248	7637302	In-frame
ENST00000547338	7645550	7645643	In-frame
ENST00000550418	7645550	7645643	In-frame
ENST00000547338	7680604	7680685	In-frame
ENST00000550418	7680604	7680685	In-frame

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Infer the effects of exon skipping event on protein functional features for RBFOX1

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
ENST00000547338	1530	397	7629778	7629922	491	634	90	138
ENST00000550418	2294	397	7629778	7629922	1259	1402	90	138
ENST00000547338	1530	397	7645550	7645643	689	781	156	187
ENST00000550418	2294	397	7645550	7645643	1457	1549	156	187
ENST00000547338	1530	397	7680604	7680685	897	977	225	252
ENST00000550418	2294	397	7680604	7680685	1665	1745	225	252

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
ENST00000547338	1530	397	7629778	7629922	491	634	90	138
ENST00000550418	2294	397	7629778	7629922	1259	1402	90	138
ENST00000547338	1530	397	7637248	7637302	635	688	138	156
ENST00000550418	2294	397	7637248	7637302	1403	1456	138	156
ENST00000547338	1530	397	7645550	7645643	689	781	156	187
ENST00000550418	2294	397	7645550	7645643	1457	1549	156	187
ENST00000547338	1530	397	7680604	7680685	897	977	225	252
ENST00000550418	2294	397	7680604	7680685	1665	1745	225	252

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
Q9NWB1	90	138	117	123	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	90	138	117	123	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	90	138	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	90	138	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	90	138	117	193	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q9NWB1	90	138	117	193	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q9NWB1	90	138	130	138	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	90	138	130	138	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	90	138	120	120	Mutagenesis	Note=Reduces RNA-binding affinity 160-fold. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	120	120	Mutagenesis	Note=Reduces RNA-binding affinity 160-fold. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=Reduces RNA-binding affinity 1500-fold. F->A%2CI%2CR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=Reduces RNA-binding affinity 1500-fold. F->A%2CI%2CR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=Reduces RNA-binding affinity 15-fold. F->H%2CW;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=Reduces RNA-binding affinity 15-fold. F->H%2CW;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=No effect on RNA-binding. F->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=No effect on RNA-binding. F->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	92	92	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NWB1	90	138	92	92	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NWB1	90	138	118	118	Site	Note=Interaction with RNA
Q9NWB1	90	138	118	118	Site	Note=Interaction with RNA
Q9NWB1	90	138	126	126	Site	Note=Interaction with RNA
Q9NWB1	90	138	126	126	Site	Note=Interaction with RNA
Q9NWB1	90	138	127	127	Site	Note=Interaction with RNA
Q9NWB1	90	138	127	127	Site	Note=Interaction with RNA
Q9NWB1	90	138	110	112	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2N82
Q9NWB1	90	138	110	112	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2N82
Q9NWB1	156	187	154	165	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	154	165	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	187	190	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	187	190	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	156	187	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	156	187	117	193	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q9NWB1	156	187	117	193	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q9NWB1	156	187	166	176	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	166	176	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	158	158	Mutagenesis	Note=Reduces RNA-binding affinity 700-fold. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	156	187	158	158	Mutagenesis	Note=Reduces RNA-binding affinity 700-fold. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	156	187	160	160	Mutagenesis	Note=Reduces RNA-binding affinity 30'000-fold. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	156	187	160	160	Mutagenesis	Note=Reduces RNA-binding affinity 30'000-fold. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	156	187	156	156	Site	Note=Interaction with RNA
Q9NWB1	156	187	156	156	Site	Note=Interaction with RNA
Q9NWB1	156	187	160	160	Site	Note=Interaction with RNA
Q9NWB1	156	187	160	160	Site	Note=Interaction with RNA
Q9NWB1	156	187	184	184	Site	Note=Interaction with RNA
Q9NWB1	156	187	184	184	Site	Note=Interaction with RNA
Q9NWB1	225	252	226	253	Alternative sequence	ID=VSP_030875;Note=In isoform 3. GTVLLCQANQEGSSMYSAPSSLVYTSAM->V;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10814712,ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.3;Dbxref=PMID:10814712,PMID:14702039
Q9NWB1	225	252	226	253	Alternative sequence	ID=VSP_030875;Note=In isoform 3. GTVLLCQANQEGSSMYSAPSSLVYTSAM->V;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10814712,ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.3;Dbxref=PMID:10814712,PMID:14702039
Q9NWB1	225	252	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	225	252	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1

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
Q9NWB1	90	138	117	123	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	90	138	117	123	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	90	138	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	90	138	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	90	138	117	193	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q9NWB1	90	138	117	193	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q9NWB1	90	138	130	138	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	90	138	130	138	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	90	138	120	120	Mutagenesis	Note=Reduces RNA-binding affinity 160-fold. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	120	120	Mutagenesis	Note=Reduces RNA-binding affinity 160-fold. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=Reduces RNA-binding affinity 1500-fold. F->A%2CI%2CR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=Reduces RNA-binding affinity 1500-fold. F->A%2CI%2CR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=Reduces RNA-binding affinity 15-fold. F->H%2CW;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=Reduces RNA-binding affinity 15-fold. F->H%2CW;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=No effect on RNA-binding. F->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	126	126	Mutagenesis	Note=No effect on RNA-binding. F->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	90	138	92	92	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NWB1	90	138	92	92	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NWB1	90	138	118	118	Site	Note=Interaction with RNA
Q9NWB1	90	138	118	118	Site	Note=Interaction with RNA
Q9NWB1	90	138	126	126	Site	Note=Interaction with RNA
Q9NWB1	90	138	126	126	Site	Note=Interaction with RNA
Q9NWB1	90	138	127	127	Site	Note=Interaction with RNA
Q9NWB1	90	138	127	127	Site	Note=Interaction with RNA
Q9NWB1	90	138	110	112	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2N82
Q9NWB1	90	138	110	112	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2N82
Q9NWB1	138	156	143	151	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	138	156	143	151	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	138	156	154	165	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	138	156	154	165	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	138	156	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	138	156	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	138	156	117	193	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q9NWB1	138	156	117	193	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q9NWB1	138	156	130	138	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	138	156	130	138	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	138	156	151	151	Site	Note=Interaction with RNA
Q9NWB1	138	156	151	151	Site	Note=Interaction with RNA
Q9NWB1	138	156	156	156	Site	Note=Interaction with RNA
Q9NWB1	138	156	156	156	Site	Note=Interaction with RNA
Q9NWB1	156	187	154	165	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	154	165	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	187	190	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	187	190	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	156	187	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	156	187	117	193	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q9NWB1	156	187	117	193	Domain	Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
Q9NWB1	156	187	166	176	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	166	176	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZKA
Q9NWB1	156	187	158	158	Mutagenesis	Note=Reduces RNA-binding affinity 700-fold. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	156	187	158	158	Mutagenesis	Note=Reduces RNA-binding affinity 700-fold. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	156	187	160	160	Mutagenesis	Note=Reduces RNA-binding affinity 30'000-fold. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	156	187	160	160	Mutagenesis	Note=Reduces RNA-binding affinity 30'000-fold. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16362037;Dbxref=PMID:16362037
Q9NWB1	156	187	156	156	Site	Note=Interaction with RNA
Q9NWB1	156	187	156	156	Site	Note=Interaction with RNA
Q9NWB1	156	187	160	160	Site	Note=Interaction with RNA
Q9NWB1	156	187	160	160	Site	Note=Interaction with RNA
Q9NWB1	156	187	184	184	Site	Note=Interaction with RNA
Q9NWB1	156	187	184	184	Site	Note=Interaction with RNA
Q9NWB1	225	252	226	253	Alternative sequence	ID=VSP_030875;Note=In isoform 3. GTVLLCQANQEGSSMYSAPSSLVYTSAM->V;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10814712,ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.3;Dbxref=PMID:10814712,PMID:14702039
Q9NWB1	225	252	226	253	Alternative sequence	ID=VSP_030875;Note=In isoform 3. GTVLLCQANQEGSSMYSAPSSLVYTSAM->V;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10814712,ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.3;Dbxref=PMID:10814712,PMID:14702039
Q9NWB1	225	252	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1
Q9NWB1	225	252	1	397	Chain	ID=PRO_0000081480;Note=RNA binding protein fox-1 homolog 1

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SNVs in the skipped exons for RBFOX1

- 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
UCEC	TCGA-D1-A102-01	exon_skip_133197 exon_skip_133198	7629779	7629922	7629787	7629787	Frame_Shift_Del	T	-	p.D93fs
UCEC	TCGA-D1-A102-01	exon_skip_133197 exon_skip_133198	7629782	7629922	7629787	7629787	Frame_Shift_Del	T	-	p.D93fs
UCEC	TCGA-D1-A102-01	exon_skip_133197 exon_skip_133198	7629779	7629922	7629790	7629790	Frame_Shift_Del	C	-	p.D94fs
UCEC	TCGA-D1-A102-01	exon_skip_133197 exon_skip_133198	7629782	7629922	7629790	7629790	Frame_Shift_Del	C	-	p.D94fs
LIHC	TCGA-DD-A1EG-01	exon_skip_133197 exon_skip_133198	7629779	7629922	7629840	7629840	Frame_Shift_Del	A	-	p.E116fs
LIHC	TCGA-DD-A1EG-01	exon_skip_133197 exon_skip_133198	7629782	7629922	7629840	7629840	Frame_Shift_Del	A	-	p.E116fs
LIHC	TCGA-DD-A1EG-01	exon_skip_133201	7680605	7680685	7680656	7680656	Frame_Shift_Del	C	-	p.A248fs
LIHC	TCGA-DD-A3A0-01	exon_skip_133201	7680605	7680685	7680656	7680656	Frame_Shift_Del	C	-	p.A248fs
LIHC	TCGA-DD-A3A0-01	exon_skip_133201	7680605	7680685	7680656	7680656	Frame_Shift_Del	C	-	p.A263fs
BLCA	TCGA-FD-A3B3-01	exon_skip_133200	7645551	7645643	7645615	7645616	Frame_Shift_Ins	-	CA	p.GT183fs
CESC	TCGA-EK-A2PG-01	exon_skip_133206	7743317	7743369	7743345	7743345	Nonsense_Mutation	G	T	p.E385*
ESCA	TCGA-IC-A6RF-01	exon_skip_133206	7743317	7743369	7743345	7743345	Nonsense_Mutation	G	T	p.E363X
ESCA	TCGA-IC-A6RF-01	exon_skip_133206	7743317	7743369	7743345	7743345	Nonsense_Mutation	G	T	p.E385*
SKCM	TCGA-FS-A1Z3-06	exon_skip_133204	7721559	7721601	7721558	7721558	Splice_Site	G	A	.

- 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
HEC151_ENDOMETRIUM	7629779	7629922	7629798	7629798	Missense_Mutation	C	T	p.P97L
HEC151_ENDOMETRIUM	7629782	7629922	7629798	7629798	Missense_Mutation	C	T	p.P97L
NCIH820_LUNG	7629779	7629922	7629798	7629798	Missense_Mutation	C	A	p.P97Q
NCIH820_LUNG	7629782	7629922	7629798	7629798	Missense_Mutation	C	A	p.P97Q
LOVO_LARGE_INTESTINE	7629779	7629922	7629801	7629801	Missense_Mutation	C	T	p.T98M
LOVO_LARGE_INTESTINE	7629782	7629922	7629801	7629801	Missense_Mutation	C	T	p.T98M
MEWO_SKIN	7629779	7629922	7629831	7629831	Missense_Mutation	A	G	p.E108G
MEWO_SKIN	7629782	7629922	7629831	7629831	Missense_Mutation	A	G	p.E108G
NCIH1770_LUNG	7629779	7629922	7629839	7629839	Missense_Mutation	G	A	p.E111K
NCIH1770_LUNG	7629782	7629922	7629839	7629839	Missense_Mutation	G	A	p.E111K
NCIH2106_LUNG	7629779	7629922	7629839	7629839	Missense_Mutation	G	A	p.E111K
NCIH2106_LUNG	7629782	7629922	7629839	7629839	Missense_Mutation	G	A	p.E111K
MCC26_SKIN	7629779	7629922	7629881	7629881	Missense_Mutation	C	T	p.P125S
MCC26_SKIN	7629782	7629922	7629881	7629881	Missense_Mutation	C	T	p.P125S
PEDS015T_SOFT_TISSUE	7629779	7629922	7629893	7629893	Missense_Mutation	C	T	p.R129W
PEDS015T_SOFT_TISSUE	7629782	7629922	7629893	7629893	Missense_Mutation	C	T	p.R129W
SARC9371_BONE	7629779	7629922	7629900	7629900	Missense_Mutation	C	T	p.P131L
SARC9371_BONE	7629782	7629922	7629900	7629900	Missense_Mutation	C	T	p.P131L
WM35_SKIN	7629779	7629922	7629900	7629900	Missense_Mutation	C	T	p.P131L
WM35_SKIN	7629782	7629922	7629900	7629900	Missense_Mutation	C	T	p.P131L
COLO741_SKIN	7645551	7645643	7645572	7645572	Missense_Mutation	G	A	p.E164K
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7645551	7645643	7645594	7645594	Missense_Mutation	G	T	p.R171M
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7645551	7645643	7645632	7645632	Missense_Mutation	C	T	p.R184C
NCIH2342_LUNG	7645551	7645643	7645632	7645632	Missense_Mutation	C	A	p.R184S
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7680605	7680685	7680637	7680637	Missense_Mutation	G	A	p.G237R
BICR18_UPPER_AERODIGESTIVE_TRACT	7680605	7680685	7680656	7680656	Missense_Mutation	C	G	p.A243G
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7680605	7680685	7680656	7680656	Missense_Mutation	C	G	p.A243G
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7680605	7680685	7680656	7680656	Missense_Mutation	C	G	p.A243G
SNU81_LARGE_INTESTINE	7680605	7680685	7680667	7680667	Missense_Mutation	C	T	p.L247F
LC1F_LUNG	7680605	7680685	7680683	7680683	Missense_Mutation	C	A	p.A252E
LC1SQ_LUNG	7680605	7680685	7680683	7680683	Missense_Mutation	C	A	p.A252E

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBFOX1

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 RBFOX1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBFOX1

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RelatedDrugs for RBFOX1

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 RBFOX1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
RBFOX1	C0004352	Autistic Disorder	2	CTD_human
RBFOX1	C0036572	Seizures	1	CTD_human

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

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