ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RBM47

Gene summary

Gene information	Gene symbol	RBM47
	Gene ID	54502
	Gene name	RNA binding motif protein 47
	Synonyms	NET18
	Cytomap	4p14
	Type of gene	protein-coding
	Description	RNA-binding protein 47
	Modification date	20180519
	UniProtAcc	A0AV96
	Context	PubMed: RBM47 [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 RBM47 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 RBM47

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 RBM47

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_429223	4	40427428:40428160:40434667:40434879:40438457:40438661	40434667:40434879	ENSG00000163694.10	ENST00000381793.2,ENST00000295971.7,ENST00000510871.1,ENST00000514014.1
exon_skip_429224	4	40427428:40428160:40434667:40434879:40439787:40440814	40434667:40434879	ENSG00000163694.10	ENST00000319592.4,ENST00000381795.6
exon_skip_429235	4	40434725:40434879:40438457:40438664:40439787:40440814	40438457:40438664	ENSG00000163694.10	ENST00000381793.2,ENST00000295971.7,ENST00000514014.1
exon_skip_429236	4	40434725:40434879:40438457:40438902:40439787:40440814	40438457:40438902	ENSG00000163694.10	ENST00000510871.1
exon_skip_429237	4	40434719:40434879:40439787:40440941:40468593:40468662	40439787:40440941	ENSG00000163694.10	ENST00000319592.4,ENST00000381795.6
exon_skip_429238	4	40440732:40440941:40457491:40457612:40468593:40468662	40457491:40457612	ENSG00000163694.10	ENST00000513473.1
exon_skip_429239	4	40440732:40440941:40468593:40468716:40546438:40546523	40468593:40468716	ENSG00000163694.10	ENST00000514782.1,ENST00000295971.7,ENST00000505220.1,ENST00000510871.1,ENST00000319592.4,ENST00000511598.1,ENST00000515053.1
exon_skip_429244	4	40468593:40468716:40546438:40546523:40631412:40631524	40546438:40546523	ENSG00000163694.10	ENST00000295971.7,ENST00000510871.1
exon_skip_429245	4	40468593:40468716:40546438:40546523:40631994:40632140	40546438:40546523	ENSG00000163694.10	ENST00000514782.1
exon_skip_429246	4	40468593:40468716:40546438:40546523:40632124:40632333	40546438:40546523	ENSG00000163694.10	ENST00000515053.1
exon_skip_429247	4	40468593:40468716:40546438:40546523:40632479:40632638	40546438:40546523	ENSG00000163694.10	ENST00000505220.1,ENST00000511598.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RBM47

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_429223	4	40427428:40428160:40434667:40434879:40438457:40438661	40434667:40434879	ENSG00000163694.10	ENST00000381793.2,ENST00000510871.1,ENST00000295971.7,ENST00000514014.1
exon_skip_429224	4	40427428:40428160:40434667:40434879:40439787:40440814	40434667:40434879	ENSG00000163694.10	ENST00000319592.4,ENST00000381795.6
exon_skip_429235	4	40434725:40434879:40438457:40438664:40439787:40440814	40438457:40438664	ENSG00000163694.10	ENST00000381793.2,ENST00000295971.7,ENST00000514014.1
exon_skip_429236	4	40434725:40434879:40438457:40438902:40439787:40440814	40438457:40438902	ENSG00000163694.10	ENST00000510871.1
exon_skip_429237	4	40434719:40434879:40439787:40440941:40468593:40468662	40439787:40440941	ENSG00000163694.10	ENST00000319592.4,ENST00000381795.6
exon_skip_429238	4	40440732:40440941:40457491:40457612:40468593:40468662	40457491:40457612	ENSG00000163694.10	ENST00000513473.1
exon_skip_429244	4	40468593:40468716:40546438:40546523:40631412:40631524	40546438:40546523	ENSG00000163694.10	ENST00000510871.1,ENST00000295971.7
exon_skip_429245	4	40468593:40468716:40546438:40546523:40631994:40632140	40546438:40546523	ENSG00000163694.10	ENST00000514782.1
exon_skip_429246	4	40468593:40468716:40546438:40546523:40632124:40632333	40546438:40546523	ENSG00000163694.10	ENST00000515053.1
exon_skip_429247	4	40468593:40468716:40546438:40546523:40632479:40632638	40546438:40546523	ENSG00000163694.10	ENST00000511598.1,ENST00000505220.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for RBM47

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
ENST00000295971	40468593	40468716	3UTR-3UTR
ENST00000295971	40546438	40546523	3UTR-3UTR
ENST00000295971	40434667	40434879	Frame-shift
ENST00000381793	40434667	40434879	Frame-shift
ENST00000295971	40438457	40438664	In-frame
ENST00000381793	40438457	40438664	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
ENST00000295971	40546438	40546523	3UTR-3UTR
ENST00000295971	40434667	40434879	Frame-shift
ENST00000381793	40434667	40434879	Frame-shift
ENST00000295971	40438457	40438664	In-frame
ENST00000381793	40438457	40438664	In-frame

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Infer the effects of exon skipping event on protein functional features for RBM47

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
ENST00000295971	4073	593	40438457	40438664	1832	2038	374	443
ENST00000381793	4833	593	40438457	40438664	1521	1727	374	443

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
ENST00000295971	4073	593	40438457	40438664	1832	2038	374	443
ENST00000381793	4833	593	40438457	40438664	1521	1727	374	443

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
A0AV96	374	443	375	443	Alternative sequence	ID=VSP_028839;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A0AV96	374	443	375	443	Alternative sequence	ID=VSP_028839;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A0AV96	374	443	1	593	Chain	ID=PRO_0000307855;Note=RNA-binding protein 47
A0AV96	374	443	1	593	Chain	ID=PRO_0000307855;Note=RNA-binding protein 47
A0AV96	374	443	394	394	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	394	394	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	394	394	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	394	394	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	405	405	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	405	405	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	405	405	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	405	405	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315

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
A0AV96	374	443	375	443	Alternative sequence	ID=VSP_028839;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A0AV96	374	443	375	443	Alternative sequence	ID=VSP_028839;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
A0AV96	374	443	1	593	Chain	ID=PRO_0000307855;Note=RNA-binding protein 47
A0AV96	374	443	1	593	Chain	ID=PRO_0000307855;Note=RNA-binding protein 47
A0AV96	374	443	394	394	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	394	394	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	394	394	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	394	394	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	405	405	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	405	405	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	405	405	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
A0AV96	374	443	405	405	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315

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SNVs in the skipped exons for RBM47

- 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.

RBM47_KICH_exon_skip_429235_psi_boxplot.png
boxplot

RBM47_KICH_exon_skip_429236_psi_boxplot.png
boxplot

RBM47_STAD_exon_skip_429235_psi_boxplot.png
boxplot

RBM47_STAD_exon_skip_429236_psi_boxplot.png
boxplot

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A0-01	exon_skip_429224 exon_skip_429223	40434668	40434879	40434773	40434773	Frame_Shift_Del	G	-	p.P410fs
LIHC	TCGA-DD-A39Y-01	exon_skip_429224 exon_skip_429223	40434668	40434879	40434825	40434825	Frame_Shift_Del	G	-	p.P393fs
LIHC	TCGA-DD-A3A0-01	exon_skip_429235	40438458	40438664	40438525	40438525	Frame_Shift_Del	T	-	p.K421fs
LIHC	TCGA-DD-A3A0-01	exon_skip_429236	40438458	40438902	40438525	40438525	Frame_Shift_Del	T	-	p.K421fs
UCEC	TCGA-A5-A0GE-01	exon_skip_429235	40438458	40438664	40438541	40438541	Frame_Shift_Del	C	-	p.G416fs
UCEC	TCGA-A5-A0GE-01	exon_skip_429236	40438458	40438902	40438541	40438541	Frame_Shift_Del	C	-	p.G416fs
LIHC	TCGA-DD-A39Y-01	exon_skip_429235	40438458	40438664	40438589	40438589	Frame_Shift_Del	C	-	p.G400fs
LIHC	TCGA-DD-A39Y-01	exon_skip_429236	40438458	40438902	40438589	40438589	Frame_Shift_Del	C	-	p.G400fs
LIHC	TCGA-DD-A3A0-01	exon_skip_429235	40438458	40438664	40438589	40438589	Frame_Shift_Del	C	-	p.G400fs
LIHC	TCGA-DD-A3A0-01	exon_skip_429236	40438458	40438902	40438589	40438589	Frame_Shift_Del	C	-	p.G400fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_429235	40438458	40438664	40438589	40438589	Frame_Shift_Del	C	-	p.G400fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_429236	40438458	40438902	40438589	40438589	Frame_Shift_Del	C	-	p.G400fs
LIHC	TCGA-DD-A1EG-01	exon_skip_429237	40439788	40440941	40439810	40439810	Frame_Shift_Del	G	-	p.P367fs
BRCA	TCGA-A8-A09M-01	exon_skip_429237	40439788	40440941	40440303	40440304	Frame_Shift_Del	CT	-	p.S203fs
KICH	TCGA-KL-8330-01	exon_skip_429235	40438458	40438664	40438607	40438608	Frame_Shift_Ins	-	T	p.R394fs
KICH	TCGA-KL-8330-01	exon_skip_429236	40438458	40438902	40438607	40438608	Frame_Shift_Ins	-	T	p.R394fs
STAD	TCGA-B7-5818-01	exon_skip_429237	40439788	40440941	40440536	40440537	Frame_Shift_Ins	-	T	p.K125fs
STAD	TCGA-B7-5818-01	exon_skip_429237	40439788	40440941	40440537	40440538	Frame_Shift_Ins	-	T	p.K125fs
BRCA	TCGA-A2-A0T2-01	exon_skip_429237	40439788	40440941	40440780	40440781	Frame_Shift_Ins	-	A	p.Y44fs
SKCM	TCGA-W3-AA21-06	exon_skip_429224 exon_skip_429223	40434668	40434879	40434670	40434670	Nonsense_Mutation	G	A	p.Q445*
UCEC	TCGA-AP-A0LM-01	exon_skip_429235	40438458	40438664	40438530	40438530	Nonsense_Mutation	C	A	p.E420*
UCEC	TCGA-AP-A0LM-01	exon_skip_429236	40438458	40438902	40438530	40438530	Nonsense_Mutation	C	A	p.E420*
HNSC	TCGA-DQ-7593-01	exon_skip_429237	40439788	40440941	40439977	40439977	Nonsense_Mutation	C	A	p.E312*
UCEC	TCGA-BS-A0UJ-01	exon_skip_429237	40439788	40440941	40440109	40440109	Nonsense_Mutation	G	A	p.Q268*
BLCA	TCGA-R3-A69X-01	exon_skip_429237	40439788	40440941	40440385	40440385	Nonsense_Mutation	C	A	p.E176*
BLCA	TCGA-CF-A5U8-01	exon_skip_429237	40439788	40440941	40440406	40440406	Nonsense_Mutation	C	A	p.E169*
STAD	TCGA-CG-5719-01	exon_skip_429235	40438458	40438664	40438457	40438457	Splice_Site	C	T	p.V444_splice
STAD	TCGA-CG-5719-01	exon_skip_429236	40438458	40438902	40438457	40438457	Splice_Site	C	T	p.V444_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CG-5719-01
	Cancer type: STAD
	ESID: exon_skip_429236
	Skipped exon start: 40438458
	Skipped exon end: 40438902
	Mutation start: 40438457
	Mutation end: 40438457
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: p.V444_splice
	Sample: TCGA-CG-5719-01
	Cancer type: STAD
	ESID: exon_skip_429235
	Skipped exon start: 40438458
	Skipped exon end: 40438664
	Mutation start: 40438457
	Mutation end: 40438457
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: p.V444_splice
exon_skip_429235_STAD_TCGA-CG-5719-01.png
exon_skip_429236_STAD_TCGA-CG-5719-01.png
	Sample: TCGA-KL-8330-01
	Cancer type: KICH
	ESID: exon_skip_429236
	Skipped exon start: 40438458
	Skipped exon end: 40438902
	Mutation start: 40438607
	Mutation end: 40438608
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.R394fs
	Sample: TCGA-KL-8330-01
	Cancer type: KICH
	ESID: exon_skip_429235
	Skipped exon start: 40438458
	Skipped exon end: 40438664
	Mutation start: 40438607
	Mutation end: 40438608
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.R394fs
exon_skip_429236_KICH_TCGA-KL-8330-01.png
	Sample: TCGA-CG-5719-01
	Cancer type: STAD
	ESID: exon_skip_429236
	Skipped exon start: 40438458
	Skipped exon end: 40438902
	Mutation start: 40438457
	Mutation end: 40438457
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: p.V444_splice
	Sample: TCGA-CG-5719-01
	Cancer type: STAD
	ESID: exon_skip_429235
	Skipped exon start: 40438458
	Skipped exon end: 40438664
	Mutation start: 40438457
	Mutation end: 40438457
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: p.V444_splice
exon_skip_429235_STAD_TCGA-CG-5719-01.png
exon_skip_429236_STAD_TCGA-CG-5719-01.png
	Sample: TCGA-KL-8330-01
	Cancer type: KICH
	ESID: exon_skip_429236
	Skipped exon start: 40438458
	Skipped exon end: 40438902
	Mutation start: 40438607
	Mutation end: 40438608
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.R394fs
	Sample: TCGA-KL-8330-01
	Cancer type: KICH
	ESID: exon_skip_429235
	Skipped exon start: 40438458
	Skipped exon end: 40438664
	Mutation start: 40438607
	Mutation end: 40438608
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.R394fs
exon_skip_429236_KICH_TCGA-KL-8330-01.png
	Sample: TCGA-A8-A09M-01
	Cancer type: BRCA
	ESID: exon_skip_429237
	Skipped exon start: 40439788
	Skipped exon end: 40440941
	Mutation start: 40440303
	Mutation end: 40440304
	Mutation type: Frame_Shift_Del
	Reference seq: CT
	Mutation seq: -
	AAchange: p.S203fs
exon_skip_429237_BRCA_TCGA-A8-A09M-01.png

- 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
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40439788	40440941	40439858	40439858	Frame_Shift_Del	G	-	p.P351fs
NCIH1836_LUNG	40434668	40434879	40434679	40434679	Missense_Mutation	G	A	p.P511S
ES2_OVARY	40434668	40434879	40434684	40434684	Missense_Mutation	G	A	p.T509M
WM1799_SKIN	40434668	40434879	40434754	40434754	Missense_Mutation	G	A	p.P486S
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40434668	40434879	40434777	40434777	Missense_Mutation	C	T	p.S478N
SW900_LUNG	40434668	40434879	40434790	40434790	Missense_Mutation	C	G	p.E474Q
SCH_STOMACH	40434668	40434879	40434795	40434795	Missense_Mutation	G	C	p.T472R
MELJUSO_SKIN	40438458	40438902	40438503	40438503	Missense_Mutation	A	T	p.L429M
MELJUSO_SKIN	40438458	40438664	40438503	40438503	Missense_Mutation	A	T	p.L429M
RERFLCFM_LUNG	40438458	40438902	40438506	40438506	Missense_Mutation	T	G	p.N428H
RERFLCFM_LUNG	40438458	40438664	40438506	40438506	Missense_Mutation	T	G	p.N428H
TMK1_STOMACH	40438458	40438902	40438506	40438506	Missense_Mutation	T	G	p.N428H
TMK1_STOMACH	40438458	40438664	40438506	40438506	Missense_Mutation	T	G	p.N428H
MDAPCA2B_PROSTATE	40438458	40438902	40438508	40438508	Missense_Mutation	G	A	p.P427L
MDAPCA2B_PROSTATE	40438458	40438664	40438508	40438508	Missense_Mutation	G	A	p.P427L
SNU81_LARGE_INTESTINE	40438458	40438902	40438527	40438527	Missense_Mutation	T	G	p.K421Q
SNU81_LARGE_INTESTINE	40438458	40438664	40438527	40438527	Missense_Mutation	T	G	p.K421Q
SNU1_STOMACH	40438458	40438902	40438575	40438575	Missense_Mutation	G	A	p.R405C
SNU1_STOMACH	40438458	40438664	40438575	40438575	Missense_Mutation	G	A	p.R405C
SKMEL30_SKIN	40438458	40438902	40438589	40438589	Missense_Mutation	C	T	p.G400E
SKMEL30_SKIN	40438458	40438664	40438589	40438589	Missense_Mutation	C	T	p.G400E
SHP77_LUNG	40438458	40438902	40438647	40438647	Missense_Mutation	G	C	p.R381G
SHP77_LUNG	40438458	40438664	40438647	40438647	Missense_Mutation	G	C	p.R381G
CHLA06ATRT_SOFT_TISSUE	40438458	40438902	40438658	40438658	Missense_Mutation	C	T	p.S377N
CHLA06ATRT_SOFT_TISSUE	40438458	40438664	40438658	40438658	Missense_Mutation	C	T	p.S377N
SW684_SOFT_TISSUE	40439788	40440941	40439815	40439815	Missense_Mutation	C	T	p.G366R
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40439788	40440941	40439884	40439884	Missense_Mutation	G	C	p.P343A
GOTO_AUTONOMIC_GANGLIA	40439788	40440941	40439884	40439884	Missense_Mutation	G	C	p.P343A
HT1376_URINARY_TRACT	40439788	40440941	40439899	40439899	Missense_Mutation	C	T	p.E338K
HEC1_ENDOMETRIUM	40439788	40440941	40439919	40439919	Missense_Mutation	G	A	p.A331V
MET2B	40439788	40440941	40439935	40439935	Missense_Mutation	G	A	p.R326C
NCIH650_LUNG	40439788	40440941	40440017	40440017	Missense_Mutation	C	T	p.M298I
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40439788	40440941	40440025	40440025	Missense_Mutation	G	A	p.H296Y
MOGGUVW_CENTRAL_NERVOUS_SYSTEM	40439788	40440941	40440028	40440028	Missense_Mutation	C	T	p.V295M
NCIH345_LUNG	40439788	40440941	40440112	40440112	Missense_Mutation	C	A	p.G267C
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40439788	40440941	40440131	40440131	Missense_Mutation	G	C	p.D260E
SKOV3_OVARY	40439788	40440941	40440159	40440159	Missense_Mutation	C	T	p.R251H
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40439788	40440941	40440190	40440190	Missense_Mutation	C	T	p.V241M
ONS76_CENTRAL_NERVOUS_SYSTEM	40439788	40440941	40440193	40440193	Missense_Mutation	C	T	p.D240N
NCIH1651_LUNG	40439788	40440941	40440209	40440209	Missense_Mutation	C	G	p.E234D
NCIH847_LUNG	40439788	40440941	40440229	40440229	Missense_Mutation	C	A	p.V228L
SW982_SOFT_TISSUE	40439788	40440941	40440250	40440250	Missense_Mutation	G	C	p.L221V
NCIH847_LUNG	40439788	40440941	40440252	40440252	Missense_Mutation	T	A	p.Q220L
451LU_SKIN	40439788	40440941	40440280	40440280	Missense_Mutation	G	A	p.R211C
HEC251_ENDOMETRIUM	40439788	40440941	40440283	40440283	Missense_Mutation	C	T	p.A210T
GP2D_LARGE_INTESTINE	40439788	40440941	40440305	40440305	Missense_Mutation	C	A	p.E202D
GP5D_LARGE_INTESTINE	40439788	40440941	40440305	40440305	Missense_Mutation	C	A	p.E202D
NCIH2869_PLEURA	40439788	40440941	40440349	40440349	Missense_Mutation	C	T	p.A188T
LAN2_AUTONOMIC_GANGLIA	40439788	40440941	40440364	40440364	Missense_Mutation	C	A	p.V183F
CW2_LARGE_INTESTINE	40439788	40440941	40440399	40440399	Missense_Mutation	A	T	p.I171N
SISO_CERVIX	40439788	40440941	40440420	40440420	Missense_Mutation	C	T	p.R164H
HEC1A_ENDOMETRIUM	40439788	40440941	40440420	40440420	Missense_Mutation	C	T	p.R164H
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40439788	40440941	40440420	40440420	Missense_Mutation	C	T	p.R164H
HEC1_ENDOMETRIUM	40439788	40440941	40440420	40440420	Missense_Mutation	C	T	p.R164H
HEC1B_ENDOMETRIUM	40439788	40440941	40440420	40440420	Missense_Mutation	C	T	p.R164H
CAPAN2_PANCREAS	40439788	40440941	40440428	40440428	Missense_Mutation	C	A	p.M161I
UO31_KIDNEY	40439788	40440941	40440433	40440433	Missense_Mutation	T	G	p.K160Q
SNU81_LARGE_INTESTINE	40439788	40440941	40440481	40440481	Missense_Mutation	C	T	p.V144M
IGROV1_OVARY	40439788	40440941	40440484	40440484	Missense_Mutation	C	T	p.G143S
SNU175_LARGE_INTESTINE	40439788	40440941	40440493	40440493	Missense_Mutation	G	A	p.R140C
ES6_BONE	40439788	40440941	40440498	40440498	Missense_Mutation	G	A	p.P138L
PC3_PROSTATE	40439788	40440941	40440501	40440501	Missense_Mutation	C	T	p.R137H
CHP134_AUTONOMIC_GANGLIA	40439788	40440941	40440501	40440501	Missense_Mutation	C	T	p.R137H
PC3JPC3_LUNG	40439788	40440941	40440501	40440501	Missense_Mutation	C	T	p.R137H
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40439788	40440941	40440510	40440510	Missense_Mutation	T	G	p.Y134S
JHUEM2_ENDOMETRIUM	40439788	40440941	40440580	40440580	Missense_Mutation	G	A	p.R111C
NCIH2731_PLEURA	40439788	40440941	40440643	40440643	Missense_Mutation	C	T	p.V90M
JHUEM7_ENDOMETRIUM	40439788	40440941	40440670	40440670	Missense_Mutation	C	T	p.D81N
SNUC2A_LARGE_INTESTINE	40439788	40440941	40440673	40440673	Missense_Mutation	G	A	p.R80C
SNUC2B_LARGE_INTESTINE	40439788	40440941	40440673	40440673	Missense_Mutation	G	A	p.R80C
HEC6_ENDOMETRIUM	40439788	40440941	40440675	40440675	Missense_Mutation	G	A	p.P79L
SNU16_STOMACH	40439788	40440941	40440697	40440697	Missense_Mutation	C	T	p.E72K
SKMEL3_SKIN	40439788	40440941	40440717	40440717	Missense_Mutation	G	A	p.P65L
MFE319_ENDOMETRIUM	40439788	40440941	40440729	40440729	Missense_Mutation	C	A	p.G61V
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40439788	40440941	40440753	40440753	Missense_Mutation	C	T	p.R53H
SNUC4_LARGE_INTESTINE	40439788	40440941	40440773	40440773	Missense_Mutation	C	T	p.M46I
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40439788	40440941	40440789	40440789	Missense_Mutation	C	T	p.R41H
SKUT1_SOFT_TISSUE	40439788	40440941	40440855	40440855	Missense_Mutation	G	A	p.S19F
HEC6_ENDOMETRIUM	40439788	40440941	40440870	40440870	Missense_Mutation	G	A	p.S14L
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40438458	40438902	40438641	40438641	Nonsense_Mutation	G	A	p.R383*
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40438458	40438664	40438641	40438641	Nonsense_Mutation	G	A	p.R383*
SW684_SOFT_TISSUE	40439788	40440941	40439937	40439937	Nonsense_Mutation	G	T	p.S325*
RKO_LARGE_INTESTINE	40439788	40440941	40439789	40439789	Splice_Site	T	-	p.K374fs

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBM47

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 RBM47

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBM47

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RelatedDrugs for RBM47

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 RBM47

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
RBM47	C3495559	Juvenile arthritis	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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