ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TOR1AIP1

Gene summary

Gene information	Gene symbol	TOR1AIP1
	Gene ID	26092
	Gene name	torsin 1A interacting protein 1
	Synonyms	LAP1\|LAP1B\|LGMD2Y
	Cytomap	1q25.2
	Type of gene	protein-coding
	Description	torsin-1A-interacting protein 1lamin-associated protein 1Blamina-associated polypeptide 1Btorsin A interacting protein 1
	Modification date	20180519
	UniProtAcc	Q5JTV8
	Context	PubMed: TOR1AIP1 [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
TOR1AIP1	GO:0032781	positive regulation of ATPase activity	23569223

Top

Exon skipping events across known transcript of Ensembl for TOR1AIP1 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.

Top

Gene isoform structures and expression levels for TOR1AIP1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for TOR1AIP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_14448	1	179853828:179853904:179856963:179857094:179858447:179858504	179856963:179857094	ENSG00000143337.14	ENST00000527867.1
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENSG00000143337.14	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENSG00000143337.14	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENSG00000143337.14	ENST00000531630.2
exon_skip_14455	1	179858447:179858504:179869260:179869302:179870436:179870522	179869260:179869302	ENSG00000143337.14	ENST00000474875.1,ENST00000529091.1,ENST00000528443.2,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1,ENST00000531726.1,ENST00000271583.3,ENST00000527867.1
exon_skip_14461	1	179858447:179858504:179870436:179870523:179873100:179873157	179870436:179870523	ENSG00000143337.14	ENST00000531630.2
exon_skip_14462	1	179869263:179869302:179870436:179870523:179873100:179873157	179870436:179870523	ENSG00000143337.14	ENST00000474875.1,ENST00000529091.1,ENST00000528443.2,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1,ENST00000531726.1,ENST00000271583.3
exon_skip_14464	1	179870436:179870523:179873100:179873157:179876957:179876999	179873100:179873157	ENSG00000143337.14	ENST00000474875.1,ENST00000528443.2,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000531630.2,ENST00000271583.3
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENSG00000143337.14	ENST00000524653.1
exon_skip_14468	1	179877739:179877808:179882720:179882765:179883132:179883137	179882720:179882765	ENSG00000143337.14	ENST00000271583.3
exon_skip_14469	1	179877739:179877808:179883132:179883189:179886586:179886860	179883132:179883189	ENSG00000143337.14	ENST00000474875.1,ENST00000528443.2,ENST00000435319.4,ENST00000606911.2

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for TOR1AIP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_14448	1	179853828:179853904:179856963:179857094:179858447:179858504	179856963:179857094	ENSG00000143337.14	ENST00000527867.1
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENSG00000143337.14	ENST00000528443.2,ENST00000271583.3,ENST00000531726.1
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENSG00000143337.14	ENST00000606911.2,ENST00000435319.4,ENST00000527391.1,ENST00000529091.1,ENST00000474875.1,ENST00000524653.1
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENSG00000143337.14	ENST00000531630.2
exon_skip_14455	1	179858447:179858504:179869260:179869302:179870436:179870522	179869260:179869302	ENSG00000143337.14	ENST00000528443.2,ENST00000271583.3,ENST00000606911.2,ENST00000435319.4,ENST00000527391.1,ENST00000529091.1,ENST00000527867.1,ENST00000474875.1,ENST00000531726.1,ENST00000524653.1
exon_skip_14461	1	179858447:179858504:179870436:179870523:179873100:179873157	179870436:179870523	ENSG00000143337.14	ENST00000531630.2
exon_skip_14462	1	179869263:179869302:179870436:179870523:179873100:179873157	179870436:179870523	ENSG00000143337.14	ENST00000528443.2,ENST00000271583.3,ENST00000606911.2,ENST00000435319.4,ENST00000527391.1,ENST00000529091.1,ENST00000474875.1,ENST00000531726.1,ENST00000524653.1
exon_skip_14464	1	179870436:179870523:179873100:179873157:179876957:179876999	179873100:179873157	ENSG00000143337.14	ENST00000528443.2,ENST00000271583.3,ENST00000606911.2,ENST00000435319.4,ENST00000531630.2,ENST00000527391.1,ENST00000474875.1
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENSG00000143337.14	ENST00000524653.1
exon_skip_14468	1	179877739:179877808:179882720:179882765:179883132:179883137	179882720:179882765	ENSG00000143337.14	ENST00000271583.3
exon_skip_14469	1	179877739:179877808:179883132:179883189:179886586:179886860	179883132:179883189	ENSG00000143337.14	ENST00000528443.2,ENST00000606911.2,ENST00000435319.4,ENST00000474875.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for TOR1AIP1

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
ENST00000606911	179858447	179858504	In-frame
ENST00000606911	179869260	179869302	In-frame
ENST00000606911	179870436	179870523	In-frame
ENST00000606911	179873100	179873157	In-frame
ENST00000606911	179883132	179883189	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
ENST00000606911	179858447	179858504	In-frame
ENST00000606911	179869260	179869302	In-frame
ENST00000606911	179870436	179870523	In-frame
ENST00000606911	179873100	179873157	In-frame
ENST00000606911	179883132	179883189	In-frame

Top

Infer the effects of exon skipping event on protein functional features for TOR1AIP1

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
ENST00000606911	8721	583	179858447	179858504	745	801	184	203
ENST00000606911	8721	583	179869260	179869302	802	843	203	217
ENST00000606911	8721	583	179870436	179870523	844	930	217	246
ENST00000606911	8721	583	179873100	179873157	931	987	246	265
ENST00000606911	8721	583	179883132	179883189	1099	1155	302	321

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
ENST00000606911	8721	583	179858447	179858504	745	801	184	203
ENST00000606911	8721	583	179869260	179869302	802	843	203	217
ENST00000606911	8721	583	179870436	179870523	844	930	217	246
ENST00000606911	8721	583	179873100	179873157	931	987	246	265
ENST00000606911	8721	583	179883132	179883189	1099	1155	302	321

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

Top

SNVs in the skipped exons for TOR1AIP1

- 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-A39Y-01	exon_skip_14452 exon_skip_14451 exon_skip_14449	179858445	179858504	179858480	179858480	Frame_Shift_Del	C	-	p.P197fs
LIHC	TCGA-DD-A39Y-01	exon_skip_14452 exon_skip_14451 exon_skip_14449	179858448	179858504	179858480	179858480	Frame_Shift_Del	C	-	p.P197fs
LIHC	TCGA-DD-A3A0-01	exon_skip_14452 exon_skip_14451 exon_skip_14449	179858445	179858504	179858480	179858480	Frame_Shift_Del	C	-	p.P197fs
LIHC	TCGA-DD-A3A0-01	exon_skip_14452 exon_skip_14451 exon_skip_14449	179858448	179858504	179858480	179858480	Frame_Shift_Del	C	-	p.P197fs
COAD	TCGA-AZ-4315-01	exon_skip_14452 exon_skip_14451 exon_skip_14449	179858445	179858504	179858477	179858477	Nonsense_Mutation	C	T	p.R195X
COAD	TCGA-AZ-4315-01	exon_skip_14452 exon_skip_14451 exon_skip_14449	179858448	179858504	179858477	179858477	Nonsense_Mutation	C	T	p.R195X
PRAD	TCGA-V1-A9ZI-01	exon_skip_14464	179873101	179873157	179873145	179873145	Nonsense_Mutation	C	T	p.Q262*
STAD	TCGA-VQ-AA69-01	exon_skip_14464	179873101	179873157	179873152	179873152	Nonsense_Mutation	C	G	p.S264*
STAD	TCGA-VQ-AA69-01	exon_skip_14464	179873101	179873157	179873152	179873152	Nonsense_Mutation	C	G	p.S265X
BLCA	TCGA-DK-A2I4-01	exon_skip_14469	179883133	179883189	179883175	179883175	Nonsense_Mutation	C	G	p.S317*
COAD	TCGA-A6-6780-01	exon_skip_14452 exon_skip_14451 exon_skip_14449	179858445	179858504	179858506	179858506	Splice_Site	T	C	.
COAD	TCGA-A6-6780-01	exon_skip_14452 exon_skip_14451 exon_skip_14449	179858448	179858504	179858506	179858506	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
HCC38_BREAST	179858448	179858504	179858462	179858462	Missense_Mutation	G	A	p.V190I
HCC38_BREAST	179858445	179858504	179858462	179858462	Missense_Mutation	G	A	p.V190I
SNGM_ENDOMETRIUM	179869261	179869302	179869267	179869267	Missense_Mutation	C	T	p.T206I
SNU119_OVARY	179869261	179869302	179869280	179869280	Missense_Mutation	G	C	p.Q210H
AM38_CENTRAL_NERVOUS_SYSTEM	179883133	179883189	179883180	179883180	Missense_Mutation	T	C	p.S319P

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TOR1AIP1

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_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	GBM	rs2245425	chr1:179858444	G/A	4.15e-44
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	ESCA	rs2245425	chr1:179858444	G/A	1.25e-62
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	HNSC	rs2245425	chr1:179858444	G/A	5.10e-124
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	BRCA	rs2245425	chr1:179858444	G/A	2.23e-308
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	LAML	rs2245425	chr1:179858444	G/A	9.65e-40
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	LGG	rs2245425	chr1:179858444	G/A	1.29e-182
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	KIRC	rs2245425	chr1:179858444	G/A	1.94e-131
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	LUAD	rs2245425	chr1:179858444	G/A	2.03e-155
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	LUSC	rs2245425	chr1:179858444	G/A	4.61e-167
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	OV	rs2245425	chr1:179858444	G/A	5.06e-99
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	PAAD	rs2245425	chr1:179858444	G/A	3.87e-60
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	PRAD	rs2245425	chr1:179858444	G/A	2.99e-99
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	SARC	rs2245425	chr1:179858444	G/A	7.63e-50
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	SKCM	rs2245425	chr1:179858444	G/A	5.03e-22
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	STAD	rs2245425	chr1:179858444	G/A	8.88e-153
exon_skip_14452	1	179853826:179853904:179858447:179858504:179870436:179870522	179858447:179858504	ENST00000531630.2	THCA	rs2245425	chr1:179858444	G/A	5.16e-124
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	GBM	rs2245425	chr1:179858444	G/A	4.15e-44
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	ESCA	rs2245425	chr1:179858444	G/A	1.25e-62
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	HNSC	rs2245425	chr1:179858444	G/A	5.10e-124
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	BRCA	rs2245425	chr1:179858444	G/A	2.23e-308
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	LAML	rs2245425	chr1:179858444	G/A	9.65e-40
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	LGG	rs2245425	chr1:179858444	G/A	1.29e-182
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	KIRC	rs2245425	chr1:179858444	G/A	1.94e-131
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	LUAD	rs2245425	chr1:179858444	G/A	2.03e-155
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	LUSC	rs2245425	chr1:179858444	G/A	4.61e-167
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	OV	rs2245425	chr1:179858444	G/A	5.06e-99
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	PAAD	rs2245425	chr1:179858444	G/A	3.87e-60
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	PRAD	rs2245425	chr1:179858444	G/A	2.99e-99
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	SARC	rs2245425	chr1:179858444	G/A	7.63e-50
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	SKCM	rs2245425	chr1:179858444	G/A	5.03e-22
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	STAD	rs2245425	chr1:179858444	G/A	8.88e-153
exon_skip_14451	1	179853826:179853904:179858447:179858504:179869260:179869302	179858447:179858504	ENST00000474875.1,ENST00000529091.1,ENST00000435319.4,ENST00000527391.1,ENST00000606911.2,ENST00000524653.1	THCA	rs2245425	chr1:179858444	G/A	5.16e-124
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	GBM	rs2245425	chr1:179858444	G/A	4.15e-44
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	ESCA	rs2245425	chr1:179858444	G/A	1.25e-62
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	HNSC	rs2245425	chr1:179858444	G/A	5.10e-124
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	BRCA	rs2245425	chr1:179858444	G/A	2.23e-308
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	LAML	rs2245425	chr1:179858444	G/A	9.65e-40
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	LGG	rs2245425	chr1:179858444	G/A	1.29e-182
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	KIRC	rs2245425	chr1:179858444	G/A	1.94e-131
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	LUAD	rs2245425	chr1:179858444	G/A	2.03e-155
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	LUSC	rs2245425	chr1:179858444	G/A	4.61e-167
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	OV	rs2245425	chr1:179858444	G/A	5.06e-99
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	PAAD	rs2245425	chr1:179858444	G/A	3.87e-60
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	PRAD	rs2245425	chr1:179858444	G/A	2.99e-99
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	SARC	rs2245425	chr1:179858444	G/A	7.63e-50
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	SKCM	rs2245425	chr1:179858444	G/A	5.03e-22
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	STAD	rs2245425	chr1:179858444	G/A	8.88e-153
exon_skip_14449	1	179853826:179853904:179858444:179858504:179869260:179869302	179858444:179858504	ENST00000528443.2,ENST00000531726.1,ENST00000271583.3	THCA	rs2245425	chr1:179858444	G/A	5.16e-124
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	GBM	rs613184	chr1:179873823	C/G	4.07e-29
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	GBM	rs613185	chr1:179873824	G/A	3.71e-11
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	ESCA	rs613184	chr1:179873823	C/G	1.42e-29
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	ESCA	rs613185	chr1:179873824	G/A	4.17e-16
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	HNSC	rs613184	chr1:179873823	C/G	3.21e-78
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	HNSC	rs613185	chr1:179873824	G/A	7.62e-33
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	LAML	rs613184	chr1:179873823	C/G	1.95e-28
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	LAML	rs613185	chr1:179873824	G/A	8.14e-09
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	LGG	rs613184	chr1:179873823	C/G	6.51e-115
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	LGG	rs613185	chr1:179873824	G/A	4.54e-39
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	KIRC	rs613184	chr1:179873823	C/G	7.20e-71
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	KIRC	rs613185	chr1:179873824	G/A	1.35e-27
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	LUAD	rs613184	chr1:179873823	C/G	3.06e-91
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	LUAD	rs613185	chr1:179873824	G/A	1.57e-31
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	MESO	rs613184	chr1:179873823	C/G	1.29e-15
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	MESO	rs613185	chr1:179873824	G/A	1.47e-07
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	LUSC	rs613184	chr1:179873823	C/G	3.92e-94
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	LUSC	rs613185	chr1:179873824	G/A	2.85e-23
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	OV	rs613184	chr1:179873823	C/G	1.63e-48
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	OV	rs613185	chr1:179873824	G/A	1.84e-19
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	PAAD	rs613184	chr1:179873823	C/G	4.10e-29
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	PAAD	rs613185	chr1:179873824	G/A	4.94e-11
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	PRAD	rs613184	chr1:179873823	C/G	8.25e-56
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	PRAD	rs613185	chr1:179873824	G/A	3.00e-26
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	SARC	rs613184	chr1:179873823	C/G	3.04e-37
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	SARC	rs613185	chr1:179873824	G/A	1.12e-15
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	SKCM	rs613184	chr1:179873823	C/G	1.47e-13
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	SKCM	rs613185	chr1:179873824	G/A	1.87e-04
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	STAD	rs613184	chr1:179873823	C/G	3.71e-90
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	STAD	rs613185	chr1:179873824	G/A	1.12e-41
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	THCA	rs613184	chr1:179873823	C/G	3.92e-59
exon_skip_14465	1	179873100:179873157:179873786:179873902:179876957:179876999	179873786:179873902	ENST00000524653.1	THCA	rs613185	chr1:179873824	G/A	6.29e-24

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TOR1AIP1

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TOR1AIP1

Top

RelatedDrugs for TOR1AIP1

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

Top

RelatedDiseases for TOR1AIP1

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

Home

Download

Statistics

Landscape

Help

Contact