ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for OBSL1

Gene summary

Gene information	Gene symbol	OBSL1
	Gene ID	23363
	Gene name	obscurin like 1
	Synonyms	-
	Cytomap	2q35
	Type of gene	protein-coding
	Description	obscurin-like protein 1
	Modification date	20180523
	UniProtAcc	O75147
	Context	PubMed: OBSL1 [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 OBSL1 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 OBSL1

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 OBSL1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_347008	2	220417589:220417746:220418295:220418408:220419195:220419462	220418295:220418408	ENSG00000124006.10	ENST00000265318.4,ENST00000404537.1,ENST00000373876.1
exon_skip_347014	2	220418295:220418408:220419195:220419462:220420741:220421014	220419195:220419462	ENSG00000124006.10	ENST00000265318.4,ENST00000404537.1,ENST00000373876.1
exon_skip_347018	2	220420963:220421014:220421175:220421445:220422544:220422832	220421175:220421445	ENSG00000124006.10	ENST00000373876.1,ENST00000604031.1,ENST00000265317.5,ENST00000456147.1
exon_skip_347026	2	220421299:220421445:220422064:220422340:220422544:220422805	220422064:220422340	ENSG00000124006.10	ENST00000265318.4,ENST00000465149.1,ENST00000603926.1,ENST00000404537.1
exon_skip_347032	2	220421299:220421445:220422544:220422832:220423946:220424153	220422544:220422832	ENSG00000124006.10	ENST00000604031.1
exon_skip_347036	2	220422544:220422832:220422905:220423181:220423946:220424153	220422905:220423181	ENSG00000124006.10	ENST00000603926.1,ENST00000404537.1,ENST00000373876.1,ENST00000265317.5,ENST00000456147.1
exon_skip_347039	2	220426468:220426730:220427123:220427396:220428076:220428349	220427123:220427396	ENSG00000124006.10	ENST00000289656.3,ENST00000373873.4
exon_skip_347045	2	220428076:220428349:220429963:220430236:220431551:220431753	220429963:220430236	ENSG00000124006.10	ENST00000265318.4,ENST00000465149.1,ENST00000603926.1,ENST00000289656.3,ENST00000373873.4,ENST00000404537.1,ENST00000373876.1
exon_skip_347054	2	220429963:220430236:220431551:220431848:220431994:220432258	220431551:220431848	ENSG00000124006.10	ENST00000265318.4,ENST00000465149.1,ENST00000603926.1,ENST00000289656.3,ENST00000373873.4,ENST00000404537.1,ENST00000373876.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for OBSL1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_347008	2	220417589:220417746:220418295:220418408:220419195:220419462	220418295:220418408	ENSG00000124006.10	ENST00000265318.4,ENST00000404537.1,ENST00000373876.1
exon_skip_347014	2	220418295:220418408:220419195:220419462:220420741:220421014	220419195:220419462	ENSG00000124006.10	ENST00000265318.4,ENST00000404537.1,ENST00000373876.1
exon_skip_347018	2	220420963:220421014:220421175:220421445:220422544:220422832	220421175:220421445	ENSG00000124006.10	ENST00000373876.1,ENST00000265317.5,ENST00000604031.1,ENST00000456147.1
exon_skip_347026	2	220421299:220421445:220422064:220422340:220422544:220422805	220422064:220422340	ENSG00000124006.10	ENST00000465149.1,ENST00000265318.4,ENST00000404537.1,ENST00000603926.1
exon_skip_347032	2	220421299:220421445:220422544:220422832:220423946:220424153	220422544:220422832	ENSG00000124006.10	ENST00000604031.1
exon_skip_347036	2	220422544:220422832:220422905:220423181:220423946:220424153	220422905:220423181	ENSG00000124006.10	ENST00000404537.1,ENST00000373876.1,ENST00000265317.5,ENST00000603926.1,ENST00000456147.1
exon_skip_347039	2	220426468:220426730:220427123:220427396:220428076:220428349	220427123:220427396	ENSG00000124006.10	ENST00000373873.4,ENST00000289656.3
exon_skip_347045	2	220428076:220428349:220429963:220430236:220431551:220431753	220429963:220430236	ENSG00000124006.10	ENST00000465149.1,ENST00000265318.4,ENST00000404537.1,ENST00000373876.1,ENST00000603926.1,ENST00000373873.4,ENST00000289656.3
exon_skip_347054	2	220429963:220430236:220431551:220431848:220431994:220432258	220431551:220431848	ENSG00000124006.10	ENST00000465149.1,ENST00000265318.4,ENST00000404537.1,ENST00000373876.1,ENST00000603926.1,ENST00000373873.4,ENST00000289656.3

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 OBSL1

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

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

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Infer the effects of exon skipping event on protein functional features for OBSL1

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 OBSL1

- 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-G3-A3CJ-01	exon_skip_347014	220419196	220419462	220419408	220419408	Frame_Shift_Del	C	-	p.G1555fs
UCEC	TCGA-BG-A0LX-01	exon_skip_347018	220421176	220421445	220421220	220421221	Frame_Shift_Del	AA	-	p.L1431fs
LIHC	TCGA-DD-A1EG-01	exon_skip_347054	220431552	220431848	220431659	220431659	Frame_Shift_Del	C	-	p.G676fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_347054	220431552	220431848	220431795	220431795	Frame_Shift_Del	C	-	p.E631fs
SKCM	TCGA-W3-A828-06	exon_skip_347014	220419196	220419462	220419394	220419394	Nonsense_Mutation	G	A	p.Q1560*
UCEC	TCGA-AP-A051-01	exon_skip_347026	220422065	220422340	220422065	220422065	Nonsense_Mutation	C	A	p.E1356*
HNSC	TCGA-CQ-5330-01	exon_skip_347032	220422545	220422832	220422717	220422717	Nonsense_Mutation	C	T	p.W1206*
STAD	TCGA-B7-A5TI-01	exon_skip_347018	220421176	220421445	220421447	220421447	Splice_Site	T	C	.

- 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
TCYIK_CERVIX	220419196	220419462	220419352	220419352	Frame_Shift_Del	G	-	p.R1574fs
NCIH1963_LUNG	220422065	220422340	220422078	220422081	Frame_Shift_Del	AAGG	-	p.FL1350fs
SNU1041_UPPER_AERODIGESTIVE_TRACT	220422906	220423181	220423178	220423178	Frame_Shift_Del	G	-	p.P1078fs
HCC461_LUNG	220431552	220431848	220431756	220431756	Frame_Shift_Del	G	-	p.Q644fs
SNU1079_BILIARY_TRACT	220422545	220422832	220422825	220422826	Frame_Shift_Ins	-	GGAG	p.-1170fs
TE15_OESOPHAGUS	220427124	220427396	220427265	220427267	In_Frame_Del	CCT	-	p.E937del
HN_UPPER_AERODIGESTIVE_TRACT	220422545	220422832	220422585	220422586	In_Frame_Ins	-	GCTGCTCCA	p.1250_1250A>AGAA
NCIH1838_LUNG	220418296	220418408	220418353	220418353	Missense_Mutation	G	T	p.D1644E
NCIH2023_LUNG	220418296	220418408	220418391	220418391	Missense_Mutation	C	A	p.V1632L
JHH7_LIVER	220419196	220419462	220419223	220419223	Missense_Mutation	G	A	p.R1617C
P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220419196	220419462	220419259	220419259	Missense_Mutation	C	T	p.D1605N
JIYOYEP2003_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220419196	220419462	220419259	220419259	Missense_Mutation	C	T	p.D1605N
MZ7MEL_SKIN	220419196	220419462	220419261	220419261	Missense_Mutation	G	C	p.A1604G
BB65RCC_KIDNEY	220419196	220419462	220419271	220419271	Missense_Mutation	G	T	p.L1601M
HEC1_ENDOMETRIUM	220419196	220419462	220419301	220419301	Missense_Mutation	C	T	p.G1591S
HEC1B_ENDOMETRIUM	220419196	220419462	220419301	220419301	Missense_Mutation	C	T	p.G1591S
SNU1214_UPPER_AERODIGESTIVE_TRACT	220419196	220419462	220419324	220419324	Missense_Mutation	G	A	p.P1583L
TE6_OESOPHAGUS	220419196	220419462	220419364	220419364	Missense_Mutation	C	G	p.G1570R
HEC265_ENDOMETRIUM	220421176	220421445	220421203	220421203	Missense_Mutation	C	T	p.A1437T
NCIH1618_LUNG	220421176	220421445	220421256	220421256	Missense_Mutation	C	T	p.R1419Q
NCIH446_LUNG	220421176	220421445	220421328	220421328	Missense_Mutation	T	C	p.N1395S
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220421176	220421445	220421391	220421391	Missense_Mutation	C	T	p.G1374D
HT115_LARGE_INTESTINE	220422065	220422340	220422191	220422191	Missense_Mutation	G	A	p.R1314W
NB1643_AUTONOMIC_GANGLIA	220422065	220422340	220422194	220422194	Missense_Mutation	C	T	p.G1313R
HCT15_LARGE_INTESTINE	220422065	220422340	220422215	220422215	Missense_Mutation	C	T	p.G1306R
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220422065	220422340	220422338	220422338	Missense_Mutation	G	C	p.P1265A
HEC1A_ENDOMETRIUM	220422545	220422832	220422656	220422656	Missense_Mutation	G	A	p.R1227C
HEC1_ENDOMETRIUM	220422545	220422832	220422656	220422656	Missense_Mutation	G	A	p.R1227C
HEC1B_ENDOMETRIUM	220422545	220422832	220422656	220422656	Missense_Mutation	G	A	p.R1227C
NCIH1155_LUNG	220422545	220422832	220422695	220422695	Missense_Mutation	G	C	p.Q1214E
KYM1_SOFT_TISSUE	220422545	220422832	220422743	220422743	Missense_Mutation	A	G	p.S1198P
NCIH1755_LUNG	220422545	220422832	220422792	220422792	Missense_Mutation	G	C	p.S1181R
NB5_AUTONOMIC_GANGLIA	220422545	220422832	220422812	220422812	Missense_Mutation	C	G	p.A1175P
QGP1_PANCREAS	220422906	220423181	220422934	220422934	Missense_Mutation	C	G	p.E1158D
SKUT1_SOFT_TISSUE	220422906	220423181	220422942	220422942	Missense_Mutation	G	A	p.R1156W
5637_URINARY_TRACT	220422906	220423181	220422965	220422965	Missense_Mutation	G	A	p.A1148V
SNU1272_KIDNEY	220422906	220423181	220423070	220423070	Missense_Mutation	C	G	p.R1113P
KM12_LARGE_INTESTINE	220422906	220423181	220423092	220423092	Missense_Mutation	C	T	p.A1106T
NCIH1437_LUNG	220427124	220427396	220427187	220427187	Missense_Mutation	C	A	p.D964Y
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220427124	220427396	220427228	220427228	Missense_Mutation	T	C	p.D950G
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220427124	220427396	220427229	220427229	Missense_Mutation	C	T	p.D950N
M14_SKIN	220427124	220427396	220427274	220427274	Missense_Mutation	C	T	p.G935R
MDAMB435S_SKIN	220427124	220427396	220427274	220427274	Missense_Mutation	C	T	p.G935R
SW1783_CENTRAL_NERVOUS_SYSTEM	220427124	220427396	220427289	220427289	Missense_Mutation	G	A	p.R930C
NCIH23_LUNG	220427124	220427396	220427299	220427299	Missense_Mutation	C	A	p.W926C
SNU668_STOMACH	220427124	220427396	220427346	220427346	Missense_Mutation	C	T	p.V911M
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220429964	220430236	220429976	220429976	Missense_Mutation	C	A	p.V799F
NCIH1155_LUNG	220429964	220430236	220430143	220430143	Missense_Mutation	A	G	p.V743A
MFE296_ENDOMETRIUM	220429964	220430236	220430197	220430197	Missense_Mutation	G	A	p.S725L
HT115_LARGE_INTESTINE	220429964	220430236	220430206	220430206	Missense_Mutation	T	C	p.D722G
BT474_BREAST	220431552	220431848	220431595	220431595	Missense_Mutation	G	T	p.F697L
HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220431552	220431848	220431605	220431605	Missense_Mutation	A	C	p.L694R
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220431552	220431848	220431759	220431759	Missense_Mutation	T	C	p.I643V
HEC59_ENDOMETRIUM	220431552	220431848	220431777	220431777	Missense_Mutation	G	A	p.L637F
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220431552	220431848	220431807	220431807	Missense_Mutation	C	A	p.V627L
HCC2450_LUNG	220431552	220431848	220431572	220431572	Nonsense_Mutation	G	C	p.S705*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OBSL1

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_347045	2	220428076:220428349:220429963:220430236:220431551:220431753	220429963:220430236	ENST00000265318.4,ENST00000465149.1,ENST00000603926.1,ENST00000289656.3,ENST00000373873.4,ENST00000404537.1,ENST00000373876.1	BRCA	rs1039898	chr2:220430203	A/G	4.10e-04
exon_skip_347045	2	220428076:220428349:220429963:220430236:220431551:220431753	220429963:220430236	ENST00000265318.4,ENST00000465149.1,ENST00000603926.1,ENST00000289656.3,ENST00000373873.4,ENST00000404537.1,ENST00000373876.1	KIRP	rs1039898	chr2:220430203	A/G	6.79e-05
exon_skip_347045	2	220428076:220428349:220429963:220430236:220431551:220431753	220429963:220430236	ENST00000265318.4,ENST00000465149.1,ENST00000603926.1,ENST00000289656.3,ENST00000373873.4,ENST00000404537.1,ENST00000373876.1	PRAD	rs1039898	chr2:220430203	A/G	4.98e-04
exon_skip_347045	2	220428076:220428349:220429963:220430236:220431551:220431753	220429963:220430236	ENST00000265318.4,ENST00000465149.1,ENST00000603926.1,ENST00000289656.3,ENST00000373873.4,ENST00000404537.1,ENST00000373876.1	SKCM	rs1039898	chr2:220430203	A/G	2.74e-05
exon_skip_347032	2	220421299:220421445:220422544:220422832:220423946:220424153	220422544:220422832	ENST00000604031.1	BRCA	rs2278201	chr2:220422774	A/G	2.75e-09
exon_skip_347032	2	220421299:220421445:220422544:220422832:220423946:220424153	220422544:220422832	ENST00000604031.1	KIRP	rs2278201	chr2:220422774	A/G	8.62e-04
exon_skip_347032	2	220421299:220421445:220422544:220422832:220423946:220424153	220422544:220422832	ENST00000604031.1	LGG	rs2278201	chr2:220422774	A/G	3.58e-07
exon_skip_347032	2	220421299:220421445:220422544:220422832:220423946:220424153	220422544:220422832	ENST00000604031.1	TGCT	rs2278201	chr2:220422774	A/G	3.39e-04
exon_skip_347039	2	220426468:220426730:220427123:220427396:220428076:220428349	220427123:220427396	ENST00000289656.3,ENST00000373873.4	THCA	rs3183099	chr2:220427395	G/A	7.35e-07
exon_skip_347018	2	220420963:220421014:220421175:220421445:220422544:220422832	220421175:220421445	ENST00000373876.1,ENST00000604031.1,ENST00000265317.5,ENST00000456147.1	BRCA	rs1983210	chr2:220421417	C/G	4.91e-03
exon_skip_347018	2	220420963:220421014:220421175:220421445:220422544:220422832	220421175:220421445	ENST00000373876.1,ENST00000604031.1,ENST00000265317.5,ENST00000456147.1	LGG	rs1983210	chr2:220421417	C/G	9.62e-05
exon_skip_347018	2	220420963:220421014:220421175:220421445:220422544:220422832	220421175:220421445	ENST00000373876.1,ENST00000604031.1,ENST00000265317.5,ENST00000456147.1	LUAD	rs1983210	chr2:220421417	C/G	8.04e-04
exon_skip_347018	2	220420963:220421014:220421175:220421445:220422544:220422832	220421175:220421445	ENST00000373876.1,ENST00000604031.1,ENST00000265317.5,ENST00000456147.1	LUAD	rs1983210	chr2:220421417	C/G	1.99e-03
exon_skip_347018	2	220420963:220421014:220421175:220421445:220422544:220422832	220421175:220421445	ENST00000373876.1,ENST00000604031.1,ENST00000265317.5,ENST00000456147.1	LUAD	rs1983210	chr2:220421417	C/G	2.67e-03
exon_skip_347018	2	220420963:220421014:220421175:220421445:220422544:220422832	220421175:220421445	ENST00000373876.1,ENST00000604031.1,ENST00000265317.5,ENST00000456147.1	PRAD	rs1983210	chr2:220421417	C/G	3.39e-06
exon_skip_347018	2	220420963:220421014:220421175:220421445:220422544:220422832	220421175:220421445	ENST00000373876.1,ENST00000604031.1,ENST00000265317.5,ENST00000456147.1	PRAD	rs1983210	chr2:220421417	C/G	1.52e-04
exon_skip_347018	2	220420963:220421014:220421175:220421445:220422544:220422832	220421175:220421445	ENST00000373876.1,ENST00000604031.1,ENST00000265317.5,ENST00000456147.1	THCA	rs1983210	chr2:220421417	C/G	1.07e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OBSL1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OBSL1

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RelatedDrugs for OBSL1

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 OBSL1

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 OBSL1

Exon skipping events across known transcript of Ensembl for OBSL1 from UCSC genome browser

Gene isoform structures and expression levels for OBSL1

Exon skipping events with PSIs in TCGA for OBSL1

Exon skipping events with PSIs in GTEx for OBSL1

Open reading frame (ORF) annotation in the exon skipping event for OBSL1

Infer the effects of exon skipping event on protein functional features for OBSL1

SNVs in the skipped exons for OBSL1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OBSL1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OBSL1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OBSL1

RelatedDrugs for OBSL1

RelatedDiseases for OBSL1