ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RBCK1

Gene summary

Gene information	Gene symbol	RBCK1
	Gene ID	10616
	Gene name	RANBP2-type and C3HC4-type zinc finger containing 1
	Synonyms	C20orf18\|HOIL-1\|HOIL1\|PBMEI\|PGBM1\|RBCK2\|RNF54\|UBCE7IP3\|XAP3\|XAP4\|ZRANB4
	Cytomap	20p13
	Type of gene	protein-coding
	Description	ranBP-type and C3HC4-type zinc finger-containing protein 1HBV-associated factor 4RBCC protein interacting with PKC1RING finger protein 54RING-type E3 ubiquitin transferase HOIL-1heme-oxidized IRP2 ubiquitin ligase 1hepatitis B virus X-associated pro
	Modification date	20180527
	UniProtAcc	Q9BYM8
	Context	PubMed: RBCK1 [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
RBCK1	GO:0000209	protein polyubiquitination	12629548\|17006537
RBCK1	GO:0032088	negative regulation of NF-kappaB transcription factor activity	17449468
RBCK1	GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	19136968\|21455173
RBCK1	GO:0050852	T cell receptor signaling pathway	20005846
RBCK1	GO:0051092	positive regulation of NF-kappaB transcription factor activity	19136968
RBCK1	GO:0097039	protein linear polyubiquitination	21455173\|21455180\|21455181\|23453807

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Exon skipping events across known transcript of Ensembl for RBCK1 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 RBCK1

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 RBCK1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_348329	20	389334:389423:390473:390669:391055:391166	390473:390669	ENSG00000125826.15	ENST00000400245.3
exon_skip_348333	20	389334:389423:390524:390669:391055:391166	390524:390669	ENSG00000125826.15	ENST00000475269.1
exon_skip_348336	20	389362:389423:390524:390669:398169:398263	390524:390669	ENSG00000125826.15	ENST00000382214.3,ENST00000356286.5,ENST00000415942.1,ENST00000411647.1
exon_skip_348340	20	389362:389423:390527:390669:398169:398263	390527:390669	ENSG00000125826.15	ENST00000441733.1
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENSG00000125826.15	ENST00000414880.1
exon_skip_348370	20	400201:400375:401514:401650:402770:402882	401514:401650	ENSG00000125826.15	ENST00000382214.3
exon_skip_348372	20	400201:400375:401514:401675:402770:402882	401514:401675	ENSG00000125826.15	ENST00000356286.5,ENST00000353660.3
exon_skip_348395	20	402797:402882:407956:408136:409134:409233	407956:408136	ENSG00000125826.15	ENST00000382214.3,ENST00000356286.5,ENST00000468272.1,ENST00000382181.2,ENST00000353660.3,ENST00000415942.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RBCK1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_348329	20	389334:389423:390473:390669:391055:391166	390473:390669	ENSG00000125826.15	ENST00000400245.3
exon_skip_348333	20	389334:389423:390524:390669:391055:391166	390524:390669	ENSG00000125826.15	ENST00000475269.1
exon_skip_348336	20	389362:389423:390524:390669:398169:398263	390524:390669	ENSG00000125826.15	ENST00000411647.1,ENST00000382214.3,ENST00000356286.5,ENST00000415942.1
exon_skip_348340	20	389362:389423:390527:390669:398169:398263	390527:390669	ENSG00000125826.15	ENST00000441733.1
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENSG00000125826.15	ENST00000414880.1
exon_skip_348370	20	400201:400375:401514:401650:402770:402882	401514:401650	ENSG00000125826.15	ENST00000382214.3
exon_skip_348372	20	400201:400375:401514:401675:402770:402882	401514:401675	ENSG00000125826.15	ENST00000356286.5,ENST00000353660.3
exon_skip_348395	20	402797:402882:407956:408136:409134:409233	407956:408136	ENSG00000125826.15	ENST00000382214.3,ENST00000356286.5,ENST00000415942.1,ENST00000353660.3,ENST00000382181.2,ENST00000468272.1

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 RBCK1

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
ENST00000356286	390524	390669	Frame-shift
ENST00000356286	401514	401675	Frame-shift
ENST00000356286	407956	408136	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
ENST00000356286	390524	390669	Frame-shift
ENST00000356286	401514	401675	Frame-shift
ENST00000356286	407956	408136	In-frame

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Infer the effects of exon skipping event on protein functional features for RBCK1

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
ENST00000356286	2791	510	407956	408136	1735	1914	343	403

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
ENST00000356286	2791	510	407956	408136	1735	1914	343	403

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
Q9BYM8	343	403	273	510	Alternative sequence	ID=VSP_005768;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9BYM8	343	403	1	510	Chain	ID=PRO_0000056295;Note=RanBP-type and C3HC4-type zinc finger-containing protein 1
Q9BYM8	343	403	387	387	Natural variant	ID=VAR_071386;Note=In PGBM1. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23798481;Dbxref=dbSNP:rs566912235,PMID:23798481
Q9BYM8	343	403	362	411	Zinc finger	Note=IBR-type

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
Q9BYM8	343	403	273	510	Alternative sequence	ID=VSP_005768;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9BYM8	343	403	1	510	Chain	ID=PRO_0000056295;Note=RanBP-type and C3HC4-type zinc finger-containing protein 1
Q9BYM8	343	403	387	387	Natural variant	ID=VAR_071386;Note=In PGBM1. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23798481;Dbxref=dbSNP:rs566912235,PMID:23798481
Q9BYM8	343	403	362	411	Zinc finger	Note=IBR-type

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SNVs in the skipped exons for RBCK1

- 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.

RBCK1_PAAD_exon_skip_348329_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-A1EG-01	exon_skip_348370	401515	401650	401648	401648	Frame_Shift_Del	T	-	p.L297fs
LIHC	TCGA-DD-A1EG-01	exon_skip_348372	401515	401675	401648	401648	Frame_Shift_Del	T	-	p.L297fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_348395	407957	408136	408134	408134	Frame_Shift_Del	A	-	p.K403fs
PAAD	TCGA-IB-7651-01	exon_skip_348329	390474	390669	390527	390527	Nonsense_Mutation	G	T	p.E9*
PAAD	TCGA-IB-7651-01	exon_skip_348329	390474	390669	390527	390527	Nonsense_Mutation	G	T	p.E9X
PAAD	TCGA-IB-7651-01	exon_skip_348336 exon_skip_348333 exon_skip_348340	390525	390669	390527	390527	Nonsense_Mutation	G	T	p.E9*
PAAD	TCGA-IB-7651-01	exon_skip_348336 exon_skip_348333 exon_skip_348340	390525	390669	390527	390527	Nonsense_Mutation	G	T	p.E9X
HNSC	TCGA-CQ-6225-01	exon_skip_348395	407957	408136	408138	408138	Splice_Site	T	C	p.K403_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_348340
	Skipped exon start: 390525
	Skipped exon end: 390669
	Mutation start: 390527
	Mutation end: 390527
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E9X
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_348329
	Skipped exon start: 390474
	Skipped exon end: 390669
	Mutation start: 390527
	Mutation end: 390527
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E9X
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_348340
	Skipped exon start: 390525
	Skipped exon end: 390669
	Mutation start: 390527
	Mutation end: 390527
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E9*
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_348329
	Skipped exon start: 390474
	Skipped exon end: 390669
	Mutation start: 390527
	Mutation end: 390527
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E9*
exon_skip_113241_PAAD_TCGA-IB-7651-01.png
exon_skip_115380_PAAD_TCGA-IB-7651-01.png
exon_skip_124564_PAAD_TCGA-IB-7651-01.png
exon_skip_135806_PAAD_TCGA-IB-7651-01.png
exon_skip_139341_PAAD_TCGA-IB-7651-01.png
exon_skip_153733_PAAD_TCGA-IB-7651-01.png
exon_skip_155805_PAAD_TCGA-IB-7651-01.png
exon_skip_18053_PAAD_TCGA-IB-7651-01.png
exon_skip_18056_PAAD_TCGA-IB-7651-01.png
exon_skip_23067_PAAD_TCGA-IB-7651-01.png
exon_skip_287059_PAAD_TCGA-IB-7651-01.png
exon_skip_294631_PAAD_TCGA-IB-7651-01.png
exon_skip_298512_PAAD_TCGA-IB-7651-01.png
exon_skip_306900_PAAD_TCGA-IB-7651-01.png
exon_skip_307723_PAAD_TCGA-IB-7651-01.png
exon_skip_315960_PAAD_TCGA-IB-7651-01.png
exon_skip_324675_PAAD_TCGA-IB-7651-01.png
exon_skip_330351_PAAD_TCGA-IB-7651-01.png
exon_skip_334330_PAAD_TCGA-IB-7651-01.png
exon_skip_341784_PAAD_TCGA-IB-7651-01.png
exon_skip_343314_PAAD_TCGA-IB-7651-01.png
exon_skip_348329_PAAD_TCGA-IB-7651-01.png
exon_skip_354232_PAAD_TCGA-IB-7651-01.png
exon_skip_370626_PAAD_TCGA-IB-7651-01.png
exon_skip_377740_PAAD_TCGA-IB-7651-01.png
exon_skip_385032_PAAD_TCGA-IB-7651-01.png
exon_skip_390031_PAAD_TCGA-IB-7651-01.png
exon_skip_422548_PAAD_TCGA-IB-7651-01.png
exon_skip_424536_PAAD_TCGA-IB-7651-01.png
exon_skip_431753_PAAD_TCGA-IB-7651-01.png
exon_skip_432982_PAAD_TCGA-IB-7651-01.png
exon_skip_435489_PAAD_TCGA-IB-7651-01.png
exon_skip_435729_PAAD_TCGA-IB-7651-01.png
exon_skip_441705_PAAD_TCGA-IB-7651-01.png
exon_skip_448879_PAAD_TCGA-IB-7651-01.png
exon_skip_468347_PAAD_TCGA-IB-7651-01.png
exon_skip_494000_PAAD_TCGA-IB-7651-01.png
exon_skip_494029_PAAD_TCGA-IB-7651-01.png
exon_skip_499410_PAAD_TCGA-IB-7651-01.png
exon_skip_499695_PAAD_TCGA-IB-7651-01.png
exon_skip_499697_PAAD_TCGA-IB-7651-01.png
exon_skip_79905_PAAD_TCGA-IB-7651-01.png
exon_skip_80096_PAAD_TCGA-IB-7651-01.png
exon_skip_95924_PAAD_TCGA-IB-7651-01.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
KYSE450_OESOPHAGUS	390525	390669	390530	390530	Missense_Mutation	G	A	p.E10K
KYSE450_OESOPHAGUS	390528	390669	390530	390530	Missense_Mutation	G	A	p.E10K
KYSE450_OESOPHAGUS	390474	390669	390530	390530	Missense_Mutation	G	A	p.E10K
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	390525	390669	390530	390530	Missense_Mutation	G	C	p.E10Q
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	390528	390669	390530	390530	Missense_Mutation	G	C	p.E10Q
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	390474	390669	390530	390530	Missense_Mutation	G	C	p.E10Q
CW2_LARGE_INTESTINE	390525	390669	390560	390560	Missense_Mutation	G	A	p.A20T
CW2_LARGE_INTESTINE	390528	390669	390560	390560	Missense_Mutation	G	A	p.A20T
CW2_LARGE_INTESTINE	390474	390669	390560	390560	Missense_Mutation	G	A	p.A20T
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	390525	390669	390587	390587	Missense_Mutation	A	G	p.K29E
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	390528	390669	390587	390587	Missense_Mutation	A	G	p.K29E
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	390474	390669	390587	390587	Missense_Mutation	A	G	p.K29E
HS852T_SKIN	390525	390669	390614	390614	Missense_Mutation	C	T	p.R38W
HS852T_SKIN	390528	390669	390614	390614	Missense_Mutation	C	T	p.R38W
HS852T_SKIN	390474	390669	390614	390614	Missense_Mutation	C	T	p.R38W
8MGBA_CENTRAL_NERVOUS_SYSTEM	401515	401675	401582	401582	Missense_Mutation	T	G	p.L275R
8MGBA_CENTRAL_NERVOUS_SYSTEM	401515	401650	401582	401582	Missense_Mutation	T	G	p.L275R
SNU1040_LARGE_INTESTINE	401515	401675	401587	401587	Missense_Mutation	A	G	p.T277A
SNU1040_LARGE_INTESTINE	401515	401650	401587	401587	Missense_Mutation	A	G	p.T277A
SW900_LUNG	401515	401675	401641	401641	Missense_Mutation	G	A	p.V295M
SW900_LUNG	401515	401650	401641	401641	Missense_Mutation	G	A	p.V295M
JHUEM7_ENDOMETRIUM	407957	408136	407982	407982	Missense_Mutation	G	A	p.R352Q
LS411N_LARGE_INTESTINE	407957	408136	408031	408031	Missense_Mutation	C	A	p.S368R
SNU349_KIDNEY	407957	408136	408102	408102	Missense_Mutation	C	A	p.P392H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBCK1

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
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	COAD	rs6115906	chr20:397928	A/G	5.23e-06
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	COAD	rs6115906	chr20:397928	A/G	5.23e-06
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	COAD	rs6115906	chr20:397928	A/G	1.41e-03
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	BLCA	rs6115906	chr20:397928	A/G	3.95e-09
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	BLCA	rs6115906	chr20:397928	A/G	3.95e-09
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	ESCA	rs6115906	chr20:397928	A/G	2.53e-06
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	ESCA	rs6115906	chr20:397928	A/G	2.53e-06
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	HNSC	rs6115906	chr20:397928	A/G	2.94e-07
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	HNSC	rs6115906	chr20:397928	A/G	2.94e-07
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	BRCA	rs6115906	chr20:397928	A/G	2.81e-28
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	BRCA	rs6115906	chr20:397928	A/G	2.82e-28
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	BRCA	rs6115906	chr20:397928	A/G	1.40e-04
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LAML	rs6115906	chr20:397928	A/G	2.05e-04
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LAML	rs6115906	chr20:397928	A/G	2.05e-04
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	KIRP	rs6115906	chr20:397928	A/G	3.70e-06
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	KIRP	rs6115906	chr20:397928	A/G	3.70e-06
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	KIRP	rs6115906	chr20:397928	A/G	1.74e-04
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LGG	rs6115906	chr20:397928	A/G	1.37e-17
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LGG	rs6115906	chr20:397928	A/G	1.39e-17
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	KIRC	rs6115906	chr20:397928	A/G	1.69e-14
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	KIRC	rs6115906	chr20:397928	A/G	1.70e-14
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	KIRC	rs6115906	chr20:397928	A/G	2.66e-03
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LUAD	rs6115906	chr20:397928	A/G	7.34e-13
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LUAD	rs6115906	chr20:397928	A/G	7.34e-13
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LUAD	rs6115906	chr20:397928	A/G	1.98e-03
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LIHC	rs6115906	chr20:397928	A/G	2.63e-07
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LIHC	rs6115906	chr20:397928	A/G	2.63e-07
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LUSC	rs6115906	chr20:397928	A/G	2.04e-13
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	LUSC	rs6115906	chr20:397928	A/G	2.04e-13
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	OV	rs6115906	chr20:397928	A/G	3.77e-07
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	OV	rs6115906	chr20:397928	A/G	3.77e-07
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	OV	rs6115906	chr20:397928	A/G	4.17e-04
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	OV	rs6115906	chr20:397928	A/G	1.21e-03
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	READ	rs6115906	chr20:397928	A/G	1.97e-04
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	READ	rs6115906	chr20:397928	A/G	1.97e-04
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	PCPG	rs6115906	chr20:397928	A/G	2.79e-04
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	PCPG	rs6115906	chr20:397928	A/G	2.79e-04
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	PAAD	rs6115906	chr20:397928	A/G	3.05e-06
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	PAAD	rs6115906	chr20:397928	A/G	3.05e-06
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	PRAD	rs6115906	chr20:397928	A/G	4.29e-11
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	PRAD	rs6115906	chr20:397928	A/G	4.29e-11
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	SARC	rs6115906	chr20:397928	A/G	1.31e-10
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	SARC	rs6115906	chr20:397928	A/G	1.31e-10
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	THYM	rs6115906	chr20:397928	A/G	1.76e-10
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	THYM	rs6115906	chr20:397928	A/G	1.76e-10
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	TGCT	rs6115906	chr20:397928	A/G	1.62e-08
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	TGCT	rs6115906	chr20:397928	A/G	1.62e-08
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	SKCM	rs6115906	chr20:397928	A/G	1.94e-05
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	SKCM	rs6115906	chr20:397928	A/G	1.94e-05
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	STAD	rs6115906	chr20:397928	A/G	5.47e-12
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	STAD	rs6115906	chr20:397928	A/G	5.49e-12
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	STAD	rs6115906	chr20:397928	A/G	7.11e-04
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	THCA	rs6115906	chr20:397928	A/G	2.38e-13
exon_skip_348352	20	390527:390669:397863:397986:398169:398263	397863:397986	ENST00000414880.1	THCA	rs6115906	chr20:397928	A/G	2.38e-13

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBCK1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBCK1

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RelatedDrugs for RBCK1

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 RBCK1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
RBCK1	C0018800	Cardiomegaly	1	CTD_human
RBCK1	C4014605	POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY	1	ORPHANET;UNIPROT

	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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