ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RABL2A

Gene summary

Gene information	Gene symbol	RABL2A
	Gene ID	11159
	Gene name	RAB, member of RAS oncogene family like 2A
	Synonyms	-
	Cytomap	2q14.1
	Type of gene	protein-coding
	Description	rab-like protein 2A
	Modification date	20180523
	UniProtAcc	Q9UBK7
	Context	PubMed: RABL2A [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 RABL2A 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 RABL2A

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 RABL2A

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_329060	2	114384963:114384977:114385432:114385587:114386126:114386290	114385432:114385587	ENSG00000144134.14	ENST00000409875.1
exon_skip_329066	2	114384963:114384977:114386126:114386290:114390491:114390521	114386126:114386290	ENSG00000144134.14	ENST00000409842.1,ENST00000465711.1,ENST00000450954.1,ENST00000413545.1,ENST00000467600.1
exon_skip_329067	2	114384963:114384977:114386130:114386290:114390491:114390521	114386130:114386290	ENSG00000144134.14	ENST00000393166.3,ENST00000452831.1,ENST00000393165.3,ENST00000376439.3
exon_skip_329076	2	114391733:114391809:114392627:114392707:114394875:114395324	114392627:114392707	ENSG00000144134.14	ENST00000465711.1
exon_skip_329078	2	114391733:114391809:114392627:114392707:114398470:114398515	114392627:114392707	ENSG00000144134.14	ENST00000393166.3,ENST00000409875.1,ENST00000393165.3,ENST00000409121.2,ENST00000413545.1,ENST00000393167.3
exon_skip_329079	2	114391733:114391809:114392627:114392707:114398929:114399027	114392627:114392707	ENSG00000144134.14	ENST00000450954.1,ENST00000452831.1
exon_skip_329086	2	114391733:114391809:114398929:114399027:114399357:114399441	114398929:114399027	ENSG00000144134.14	ENST00000409842.1,ENST00000376439.3
exon_skip_329091	2	114392627:114392707:114398470:114398582:114398929:114399027	114398470:114398582	ENSG00000144134.14	ENST00000393165.3,ENST00000409121.2
exon_skip_329092	2	114392627:114392707:114398470:114398582:114398932:114399027	114398470:114398582	ENSG00000144134.14	ENST00000393166.3,ENST00000409875.1,ENST00000393167.3
exon_skip_329097	2	114392627:114392707:114398929:114399027:114399357:114399441	114398929:114399027	ENSG00000144134.14	ENST00000452831.1
exon_skip_329098	2	114392627:114392707:114398929:114399057:114399357:114399441	114398929:114399057	ENSG00000144134.14	ENST00000450954.1
exon_skip_329101	2	114394943:114395063:114398470:114398582:114398929:114399027	114398470:114398582	ENSG00000144134.14	ENST00000478880.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RABL2A

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_329060	2	114384963:114384977:114385432:114385587:114386126:114386290	114385432:114385587	ENSG00000144134.14	ENST00000409875.1
exon_skip_329066	2	114384963:114384977:114386126:114386290:114390491:114390521	114386126:114386290	ENSG00000144134.14	ENST00000409842.1,ENST00000413545.1,ENST00000450954.1,ENST00000467600.1,ENST00000465711.1
exon_skip_329067	2	114384963:114384977:114386130:114386290:114390491:114390521	114386130:114386290	ENSG00000144134.14	ENST00000393165.3,ENST00000452831.1,ENST00000393166.3,ENST00000376439.3
exon_skip_329076	2	114391733:114391809:114392627:114392707:114394875:114395324	114392627:114392707	ENSG00000144134.14	ENST00000465711.1
exon_skip_329078	2	114391733:114391809:114392627:114392707:114398470:114398515	114392627:114392707	ENSG00000144134.14	ENST00000393167.3,ENST00000413545.1,ENST00000393165.3,ENST00000393166.3,ENST00000409875.1,ENST00000409121.2
exon_skip_329079	2	114391733:114391809:114392627:114392707:114398929:114399027	114392627:114392707	ENSG00000144134.14	ENST00000450954.1,ENST00000452831.1
exon_skip_329086	2	114391733:114391809:114398929:114399027:114399357:114399441	114398929:114399027	ENSG00000144134.14	ENST00000409842.1,ENST00000376439.3
exon_skip_329091	2	114392627:114392707:114398470:114398582:114398929:114399027	114398470:114398582	ENSG00000144134.14	ENST00000393165.3,ENST00000409121.2
exon_skip_329092	2	114392627:114392707:114398470:114398582:114398932:114399027	114398470:114398582	ENSG00000144134.14	ENST00000393167.3,ENST00000393166.3,ENST00000409875.1
exon_skip_329097	2	114392627:114392707:114398929:114399027:114399357:114399441	114398929:114399027	ENSG00000144134.14	ENST00000452831.1
exon_skip_329098	2	114392627:114392707:114398929:114399057:114399357:114399441	114398929:114399057	ENSG00000144134.14	ENST00000450954.1
exon_skip_329101	2	114394943:114395063:114398470:114398582:114398929:114399027	114398470:114398582	ENSG00000144134.14	ENST00000478880.1

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 RABL2A

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
ENST00000393166	114386130	114386290	5CDS-5UTR
ENST00000393166	114392627	114392707	Frame-shift
ENST00000393167	114392627	114392707	Frame-shift
ENST00000393166	114398470	114398582	Frame-shift
ENST00000393167	114398470	114398582	Frame-shift

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
ENST00000393166	114386130	114386290	5CDS-5UTR
ENST00000393166	114392627	114392707	Frame-shift
ENST00000393167	114392627	114392707	Frame-shift
ENST00000393166	114398470	114398582	Frame-shift
ENST00000393167	114398470	114398582	Frame-shift

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Infer the effects of exon skipping event on protein functional features for RABL2A

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

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

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

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

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SNVs in the skipped exons for RABL2A

- 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
LIHC	TCGA-DD-A3A0-01	exon_skip_329086 exon_skip_329097	114398930	114399027	114398948	114398948	Frame_Shift_Del	A	-	p.Q142fs
LIHC	TCGA-DD-A3A0-01	exon_skip_329098	114398930	114399057	114398948	114398948	Frame_Shift_Del	A	-	p.Q142fs
STAD	TCGA-HU-A4GQ-01	exon_skip_329086 exon_skip_329097	114398930	114399027	114398948	114398948	Frame_Shift_Del	A	-	p.Q143fs
STAD	TCGA-HU-A4GQ-01	exon_skip_329098	114398930	114399057	114398948	114398948	Frame_Shift_Del	A	-	p.Q143fs
UCEC	TCGA-AP-A051-01	exon_skip_329101 exon_skip_329092 exon_skip_329091	114398471	114398582	114398525	114398525	Nonsense_Mutation	G	T	p.E118*

- 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
PK1_PANCREAS	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
PK1_PANCREAS	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
ABC1_LUNG	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
ABC1_LUNG	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
CCK81_LARGE_INTESTINE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
CCK81_LARGE_INTESTINE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
CJM_SKIN	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
CJM_SKIN	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
HCC56_LARGE_INTESTINE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
HCC56_LARGE_INTESTINE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
HS695T_SKIN	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
HS695T_SKIN	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
HS706T_BONE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
HS706T_BONE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
JIMT1_BREAST	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
JIMT1_BREAST	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
L33_PANCREAS	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
L33_PANCREAS	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
LNZ308_CENTRAL_NERVOUS_SYSTEM	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
LNZ308_CENTRAL_NERVOUS_SYSTEM	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
MKN74_STOMACH	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
MKN74_STOMACH	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH1184_LUNG	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH1184_LUNG	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH1819_LUNG	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH1819_LUNG	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH1838_LUNG	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH1838_LUNG	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH2106_LUNG	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH2106_LUNG	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH596_LUNG	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH596_LUNG	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH69_LUNG	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH69_LUNG	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH841_LUNG	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
NCIH841_LUNG	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
OUMS23_LARGE_INTESTINE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
OUMS23_LARGE_INTESTINE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
PANC0504_PANCREAS	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
PANC0504_PANCREAS	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
SNU869_BILIARY_TRACT	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
SNU869_BILIARY_TRACT	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
SNU886_LIVER	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
SNU886_LIVER	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
SNUC5_LARGE_INTESTINE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
SNUC5_LARGE_INTESTINE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
SW620_LARGE_INTESTINE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
SW620_LARGE_INTESTINE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
VMRCRCW_KIDNEY	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
VMRCRCW_KIDNEY	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
WM115_SKIN	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
WM115_SKIN	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
ZR7530_BREAST	114398930	114399027	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
ZR7530_BREAST	114398930	114399057	114398947	114398948	Frame_Shift_Ins	-	A	p.Q142fs
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114386131	114386290	114386206	114386206	Missense_Mutation	C	T	p.P8L
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114386127	114386290	114386206	114386206	Missense_Mutation	C	T	p.P8L
SNGM_ENDOMETRIUM	114386131	114386290	114386233	114386233	Missense_Mutation	A	G	p.D17G
SNGM_ENDOMETRIUM	114386127	114386290	114386233	114386233	Missense_Mutation	A	G	p.D17G
TE617T_SOFT_TISSUE	114392628	114392707	114392662	114392662	Missense_Mutation	G	C	p.Q84H
HCC2998_LARGE_INTESTINE	114398471	114398582	114398534	114398534	Missense_Mutation	G	A	p.E121K
TC71_BONE	114398930	114399027	114398960	114398960	Missense_Mutation	A	G	p.N146S
TC71_BONE	114398930	114399057	114398960	114398960	Missense_Mutation	A	G	p.N146S
NCIH211_LUNG	114398930	114399027	114399014	114399014	Missense_Mutation	C	G	p.T164S
NCIH211_LUNG	114398930	114399057	114399014	114399014	Missense_Mutation	C	G	p.T164S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RABL2A

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 RABL2A

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RABL2A

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RelatedDrugs for RABL2A

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 RABL2A

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 RABL2A

Exon skipping events across known transcript of Ensembl for RABL2A from UCSC genome browser

Gene isoform structures and expression levels for RABL2A

Exon skipping events with PSIs in TCGA for RABL2A

Exon skipping events with PSIs in GTEx for RABL2A

Open reading frame (ORF) annotation in the exon skipping event for RABL2A

Infer the effects of exon skipping event on protein functional features for RABL2A

SNVs in the skipped exons for RABL2A

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RABL2A

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RABL2A

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RABL2A

RelatedDrugs for RABL2A

RelatedDiseases for RABL2A