ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RPL22

Gene summary

Gene information	Gene symbol	RPL22
	Gene ID	6146
	Gene name	ribosomal protein L22
	Synonyms	EAP\|HBP15\|HBP15/L22\|L22
	Cytomap	1p36.31
	Type of gene	protein-coding
	Description	60S ribosomal protein L22EBER-associated proteinEpstein-Barr virus small RNA-associated proteinEpstein-Barr-encoded RNA-associated proteinheparin-binding protein 15heparin-binding protein HBp15large ribosomal subunit protein eL22
	Modification date	20180523
	UniProtAcc	P35268
	Context	PubMed: RPL22 [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 RPL22 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 RPL22

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 RPL22

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_21151	1	6246782:6246876:6252989:6253114:6257711:6257740	6252989:6253114	ENSG00000116251.5	ENST00000471204.1,ENST00000465387.1,ENST00000480661.1,ENST00000497965.1,ENST00000234875.4
exon_skip_21199	1	6253006:6253114:6257711:6257816:6259621:6259672	6257711:6257816	ENSG00000116251.5	ENST00000234875.4
exon_skip_21201	1	6253006:6253114:6257711:6257816:6268740:6268799	6257711:6257816	ENSG00000116251.5	ENST00000471204.1
exon_skip_21227	1	6257713:6257816:6260548:6260810:6268740:6268799	6260548:6260810	ENSG00000116251.5	ENST00000465335.1
exon_skip_21232	1	6257711:6257816:6268740:6268799:6269194:6269304	6268740:6268799	ENSG00000116251.5	ENST00000471204.1
exon_skip_21238	1	6260548:6260810:6268740:6268799:6269194:6269304	6268740:6268799	ENSG00000116251.5	ENST00000465335.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RPL22

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_21151	1	6246782:6246876:6252989:6253114:6257711:6257740	6252989:6253114	ENSG00000116251.5	ENST00000234875.4,ENST00000480661.1,ENST00000497965.1,ENST00000471204.1,ENST00000465387.1
exon_skip_21199	1	6253006:6253114:6257711:6257816:6259621:6259672	6257711:6257816	ENSG00000116251.5	ENST00000234875.4
exon_skip_21201	1	6253006:6253114:6257711:6257816:6268740:6268799	6257711:6257816	ENSG00000116251.5	ENST00000471204.1
exon_skip_21227	1	6257713:6257816:6260548:6260810:6268740:6268799	6260548:6260810	ENSG00000116251.5	ENST00000465335.1
exon_skip_21232	1	6257711:6257816:6268740:6268799:6269194:6269304	6268740:6268799	ENSG00000116251.5	ENST00000471204.1
exon_skip_21238	1	6260548:6260810:6268740:6268799:6269194:6269304	6268740:6268799	ENSG00000116251.5	ENST00000465335.1

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 RPL22

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
ENST00000234875	6252989	6253114	Frame-shift
ENST00000234875	6257711	6257816	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
ENST00000234875	6252989	6253114	Frame-shift
ENST00000234875	6257711	6257816	In-frame

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Infer the effects of exon skipping event on protein functional features for RPL22

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
ENST00000234875	2095	128	6257711	6257816	52	156	4	39

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
ENST00000234875	2095	128	6257711	6257816	52	156	4	39

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
P35268	4	39	2	128	Chain	ID=PRO_0000215501;Note=60S ribosomal protein L22

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
P35268	4	39	2	128	Chain	ID=PRO_0000215501;Note=60S ribosomal protein L22

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SNVs in the skipped exons for RPL22

- 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
ACC	TCGA-OR-A5J5-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
ACC	TCGA-OR-A5J5-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
ACC	TCGA-PK-A5HB-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
ACC	TCGA-PK-A5HB-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
COAD	TCGA-A6-6780-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
COAD	TCGA-CM-6171-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
COAD	TCGA-D5-6930-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
COAD	TCGA-G4-6309-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
COAD	TCGA-G4-6320-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
ESCA	TCGA-L5-A43J-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
ESCA	TCGA-L5-A43J-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
ESCA	TCGA-L5-A4OI-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
ESCA	TCGA-L5-A4OI-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
ESCA	TCGA-L5-A8NM-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
ESCA	TCGA-L5-A8NM-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
HNSC	TCGA-CN-5369-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
HNSC	TCGA-F7-A624-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
LUAD	TCGA-86-A4JF-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
READ	TCGA-EI-6882-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
STAD	TCGA-BR-8361-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257786	Frame_Shift_Del	TT	-	p.15_15del
STAD	TCGA-D7-A6EY-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
STAD	TCGA-HF-A5NB-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
STAD	TCGA-HU-A4H8-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257786	Frame_Shift_Del	TT	-	p.15_15del
STAD	TCGA-MX-A5UJ-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
STAD	TCGA-VQ-A8P2-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
THYM	TCGA-ZB-A966-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-A5-A0GB-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-A5-A0GW-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-A5-A0VQ-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-AP-A054-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-AP-A0LD-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-AP-A0LT-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-AX-A05Y-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-AX-A063-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-B5-A0JR-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-B5-A11G-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-B5-A11H-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-B5-A11U-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-BG-A0LX-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-BG-A0VW-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-BS-A0TJ-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-BS-A0U8-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-BS-A0UM-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-D1-A0ZO-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-D1-A0ZS-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-D1-A101-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-D1-A167-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-D1-A174-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-D1-A17A-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-D1-A17D-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-D1-A17R-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCEC	TCGA-D1-A17U-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K15fs
UCS	TCGA-N7-A4Y0-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
BLCA	TCGA-FJ-A3ZF-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
COAD	TCGA-CM-5861-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
COAD	TCGA-CM-6165-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
GBM	TCGA-06-0749-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
SKCM	TCGA-EB-A430-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
SKCM	TCGA-GN-A264-06	exon_skip_21201 exon_skip_21199	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
UCEC	TCGA-AP-A0LM-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K16fs
SKCM	TCGA-EB-A4IS-01	exon_skip_21151	6252990	6253114	6253009	6253009	Nonsense_Mutation	C	A	p.E75*
SKCM	TCGA-EB-A4IS-01	exon_skip_21151	6252990	6253114	6253009	6253009	Nonsense_Mutation	C	A	p.E75X
LIHC	TCGA-DD-A4NE-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257754	6257754	Nonsense_Mutation	G	T	p.C25*
LIHC	TCGA-DD-A4NE-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257754	6257754	Nonsense_Mutation	G	T	p.C25X
LGG	TCGA-HW-8320-01	exon_skip_21201 exon_skip_21199	6257712	6257816	6257818	6257818	Splice_Site	T	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
22RV1_PROSTATE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
C33A_CERVIX	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
OC316_OVARY	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SISO_CERVIX	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SKMEL2_SKIN	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
DV90_LUNG	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
HEC108_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
HEC151_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
HEC265_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
HEC59_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
HEC6_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
LNCAPCLONEFGC_PROSTATE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
MDAPCA2B_PROSTATE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
MFE296_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SNGM_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SNU175_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SNU324_PANCREAS	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SNU349_KIDNEY	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SNU520_STOMACH	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SNUC2A_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SNUC4_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
TOV21G_OVARY	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
2313287_STOMACH	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
HCT116_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
HCT15_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
IM95_STOMACH	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
RKO_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
AN3CA_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
CAL51_BREAST	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
CCK81_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
GP2D_LARGE_INTESTINE	6257712	6257816	6257785	6257786	Frame_Shift_Del	TT	-	p.K16fs
HEC1A_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
IGROV1_OVARY	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
KM12_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
LOVO_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
LS180_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
OVK18_OVARY	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
RL952_ENDOMETRIUM	6257712	6257816	6257785	6257786	Frame_Shift_Del	TT	-	p.K16fs
SKUT1_SOFT_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
COLO684_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
CW2_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
GP5D_LARGE_INTESTINE	6257712	6257816	6257785	6257786	Frame_Shift_Del	TT	-	p.K16fs
HEC1_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
LS411N_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
OC314_OVARY	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
OCUBM_BREAST	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SNU407_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SNUC2B_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SNUC5_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
SW48_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
TGBC11TKB_STOMACH	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
HEC1B_ENDOMETRIUM	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
COLO704_OVARY	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
HRT18_LARGE_INTESTINE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257785	6257785	Frame_Shift_Del	T	-	p.K16fs
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
SNU1_STOMACH	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
JHUEM1_ENDOMETRIUM	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
DSH1_URINARY_TRACT	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
EN_ENDOMETRIUM	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
HARA_LUNG	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
SNUC1_LARGE_INTESTINE	6257712	6257816	6257784	6257785	Frame_Shift_Ins	-	T	p.K15fs
SW48_LARGE_INTESTINE	6257712	6257816	6257785	6257786	Frame_Shift_Ins	-	T	p.K15fs
MFE319_ENDOMETRIUM	6257712	6257816	6257793	6257794	Frame_Shift_Ins	-	C	p.G12fs
KMRC1_KIDNEY	6257712	6257816	6257799	6257800	Frame_Shift_Ins	-	A	p.K10fs
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6252990	6253114	6253023	6253025	In_Frame_Del	ATC	-	p.69_70KI>N
SNU1040_LARGE_INTESTINE	6252990	6253114	6253035	6253035	Missense_Mutation	C	T	p.S66N
KYAE1_OESOPHAGUS	6257712	6257816	6257716	6257716	Missense_Mutation	T	C	p.N38S
QGP1_PANCREAS	6257712	6257816	6257744	6257744	Missense_Mutation	C	A	p.V29L
HCC1833_LUNG	6257712	6257816	6257759	6257759	Missense_Mutation	C	A	p.D24Y
CJM_SKIN	6257712	6257816	6257780	6257780	Nonsense_Mutation	G	A	p.Q17*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPL22

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 RPL22

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPL22

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RelatedDrugs for RPL22

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 RPL22

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 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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Gene summary for RPL22

Exon skipping events across known transcript of Ensembl for RPL22 from UCSC genome browser

Gene isoform structures and expression levels for RPL22

Exon skipping events with PSIs in TCGA for RPL22

Exon skipping events with PSIs in GTEx for RPL22

Open reading frame (ORF) annotation in the exon skipping event for RPL22

Infer the effects of exon skipping event on protein functional features for RPL22

SNVs in the skipped exons for RPL22

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPL22

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPL22

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPL22

RelatedDrugs for RPL22

RelatedDiseases for RPL22