ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ATF7IP

Gene summary

Gene information	Gene symbol	ATF7IP
	Gene ID	55729
	Gene name	activating transcription factor 7 interacting protein
	Synonyms	AM\|ATF-IP\|MCAF\|MCAF1\|p621
	Cytomap	12p13.1
	Type of gene	protein-coding
	Description	activating transcription factor 7-interacting protein 1ATF-interacting proteinATF7-interacting proteinATFa-associated modulatorMBD1-containing chromatin-associated factor 1
	Modification date	20180519
	UniProtAcc	Q6VMQ6
	Context	PubMed: ATF7IP [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
ATF7IP	GO:0006306	DNA methylation	12665582
ATF7IP	GO:0045892	negative regulation of transcription, DNA-templated	12665582
ATF7IP	GO:0045893	positive regulation of transcription, DNA-templated	12665582
ATF7IP	GO:0045898	regulation of RNA polymerase II transcriptional preinitiation complex assembly	12665582

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Exon skipping events across known transcript of Ensembl for ATF7IP 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 ATF7IP

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 ATF7IP

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_80376	12	14518662:14518761:14576842:14578407:14587270:14587357	14576842:14578407	ENSG00000171681.8	ENST00000537653.1,ENST00000261168.4
exon_skip_80377	12	14518662:14518761:14576842:14578407:14587273:14587357	14576842:14578407	ENSG00000171681.8	ENST00000543189.1,ENST00000536444.1
exon_skip_80379	12	14576842:14578407:14587270:14587357:14589039:14589185	14587270:14587357	ENSG00000171681.8	ENST00000544627.1,ENST00000541654.1,ENST00000540793.1,ENST00000537653.1,ENST00000261168.4
exon_skip_80380	12	14576842:14578407:14587273:14587357:14589039:14589185	14587273:14587357	ENSG00000171681.8	ENST00000543189.1,ENST00000536444.1,ENST00000539659.1
exon_skip_80381	12	14589128:14589185:14591063:14591201:14599921:14599964	14591063:14591201	ENSG00000171681.8	ENST00000544627.1,ENST00000541654.1,ENST00000540793.1,ENST00000543189.1,ENST00000538511.1,ENST00000537653.1,ENST00000536444.1,ENST00000539659.1,ENST00000261168.4
exon_skip_80382	12	14591063:14591201:14599921:14599987:14609494:14609568	14599921:14599987	ENSG00000171681.8	ENST00000544627.1,ENST00000541654.1,ENST00000540793.1,ENST00000543189.1,ENST00000537653.1,ENST00000536444.1,ENST00000539659.1,ENST00000261168.4
exon_skip_80383	12	14609494:14609568:14610140:14610229:14613428:14613501	14610140:14610229	ENSG00000171681.8	ENST00000544627.1,ENST00000540793.1,ENST00000543189.1,ENST00000537653.1,ENST00000536444.1,ENST00000261168.4
exon_skip_80384	12	14628823:14628902:14631250:14631406:14633936:14634119	14631250:14631406	ENSG00000171681.8	ENST00000544627.1,ENST00000540793.1,ENST00000543189.1,ENST00000536444.1,ENST00000261168.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ATF7IP

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_80376	12	14518662:14518761:14576842:14578407:14587270:14587357	14576842:14578407	ENSG00000171681.8	ENST00000537653.1,ENST00000261168.4
exon_skip_80377	12	14518662:14518761:14576842:14578407:14587273:14587357	14576842:14578407	ENSG00000171681.8	ENST00000543189.1,ENST00000536444.1
exon_skip_80379	12	14576842:14578407:14587270:14587357:14589039:14589185	14587270:14587357	ENSG00000171681.8	ENST00000537653.1,ENST00000261168.4,ENST00000544627.1,ENST00000541654.1,ENST00000540793.1
exon_skip_80380	12	14576842:14578407:14587273:14587357:14589039:14589185	14587273:14587357	ENSG00000171681.8	ENST00000539659.1,ENST00000543189.1,ENST00000536444.1
exon_skip_80381	12	14589128:14589185:14591063:14591201:14599921:14599964	14591063:14591201	ENSG00000171681.8	ENST00000539659.1,ENST00000537653.1,ENST00000261168.4,ENST00000538511.1,ENST00000543189.1,ENST00000536444.1,ENST00000544627.1,ENST00000541654.1,ENST00000540793.1
exon_skip_80382	12	14591063:14591201:14599921:14599987:14609494:14609568	14599921:14599987	ENSG00000171681.8	ENST00000539659.1,ENST00000537653.1,ENST00000261168.4,ENST00000543189.1,ENST00000536444.1,ENST00000544627.1,ENST00000541654.1,ENST00000540793.1
exon_skip_80383	12	14609494:14609568:14610140:14610229:14613428:14613501	14610140:14610229	ENSG00000171681.8	ENST00000537653.1,ENST00000261168.4,ENST00000543189.1,ENST00000536444.1,ENST00000544627.1,ENST00000540793.1
exon_skip_80384	12	14628823:14628902:14631250:14631406:14633936:14634119	14631250:14631406	ENSG00000171681.8	ENST00000261168.4,ENST00000543189.1,ENST00000536444.1,ENST00000544627.1,ENST00000540793.1

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 ATF7IP

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
ENST00000261168	14576842	14578407	5CDS-5UTR
ENST00000261168	14610140	14610229	Frame-shift
ENST00000540793	14610140	14610229	Frame-shift
ENST00000261168	14587270	14587357	In-frame
ENST00000540793	14587270	14587357	In-frame
ENST00000261168	14591063	14591201	In-frame
ENST00000540793	14591063	14591201	In-frame
ENST00000261168	14599921	14599987	In-frame
ENST00000540793	14599921	14599987	In-frame
ENST00000261168	14631250	14631406	In-frame
ENST00000540793	14631250	14631406	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
ENST00000261168	14576842	14578407	5CDS-5UTR
ENST00000261168	14610140	14610229	Frame-shift
ENST00000540793	14610140	14610229	Frame-shift
ENST00000261168	14587270	14587357	In-frame
ENST00000540793	14587270	14587357	In-frame
ENST00000261168	14591063	14591201	In-frame
ENST00000540793	14591063	14591201	In-frame
ENST00000261168	14599921	14599987	In-frame
ENST00000540793	14599921	14599987	In-frame
ENST00000261168	14631250	14631406	In-frame
ENST00000540793	14631250	14631406	In-frame

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Infer the effects of exon skipping event on protein functional features for ATF7IP

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
ENST00000261168	4673	1270	14587270	14587357	1712	1798	519	548
ENST00000540793	4159	1270	14587270	14587357	1714	1800	519	548
ENST00000261168	4673	1270	14591063	14591201	1945	2082	597	643
ENST00000540793	4159	1270	14591063	14591201	1947	2084	597	643
ENST00000261168	4673	1270	14599921	14599987	2083	2148	643	665
ENST00000540793	4159	1270	14599921	14599987	2085	2150	643	665
ENST00000261168	4673	1270	14631250	14631406	3095	3250	980	1032
ENST00000540793	4159	1270	14631250	14631406	3097	3252	980	1032

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
ENST00000261168	4673	1270	14587270	14587357	1712	1798	519	548
ENST00000540793	4159	1270	14587270	14587357	1714	1800	519	548
ENST00000261168	4673	1270	14591063	14591201	1945	2082	597	643
ENST00000540793	4159	1270	14591063	14591201	1947	2084	597	643
ENST00000261168	4673	1270	14599921	14599987	2083	2148	643	665
ENST00000540793	4159	1270	14599921	14599987	2085	2150	643	665
ENST00000261168	4673	1270	14631250	14631406	3095	3250	980	1032
ENST00000540793	4159	1270	14631250	14631406	3097	3252	980	1032

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 ATF7IP

- 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.

ATF7IP_LUAD_exon_skip_80383_psi_boxplot.png
boxplot

ATF7IP_READ_exon_skip_80383_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
KIRP	TCGA-O9-A75Z-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14576874	14576874	Frame_Shift_Del	A	-	p.Q8fs
LUAD	TCGA-86-A4JF-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14576874	14576874	Frame_Shift_Del	A	-	p.K18fs
UCEC	TCGA-AP-A0LT-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577802	14577802	Frame_Shift_Del	A	-	p.E318fs
UCEC	TCGA-D1-A101-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577802	14577802	Frame_Shift_Del	A	-	p.E318fs
UCEC	TCGA-B5-A11H-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14578136	14578137	Frame_Shift_Del	TA	-	p.M430fs
STAD	TCGA-BR-4292-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14578360	14578360	Frame_Shift_Del	A	-	p.E504fs
UCEC	TCGA-BK-A0C9-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14578360	14578360	Frame_Shift_Del	A	-	p.E504fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_80383	14610141	14610229	14610180	14610180	Frame_Shift_Del	A	-	p.R711fs
STAD	TCGA-BR-4184-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14576873	14576874	Frame_Shift_Ins	-	A	p.Q8fs
STAD	TCGA-BR-4184-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14576874	14576875	Frame_Shift_Ins	-	A	p.Q8fs
LUAD	TCGA-62-8399-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577503	14577504	Frame_Shift_Ins	-	C	p.H227fs
CESC	TCGA-C5-A7UE-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.N320fs
COAD	TCGA-F4-6856-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.E318fs
STAD	TCGA-BR-4292-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.E318fs
STAD	TCGA-CG-4442-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.E318fs
UCEC	TCGA-D1-A17F-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.E318fs
UCEC	TCGA-D1-A17R-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.E318fs
STAD	TCGA-BR-4292-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577802	14577803	Frame_Shift_Ins	-	A	p.E318fs
STAD	TCGA-CG-4442-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577802	14577803	Frame_Shift_Ins	-	A	p.E318fs
LUAD	TCGA-50-6590-01	exon_skip_80383	14610141	14610229	14610174	14610175	Frame_Shift_Ins	-	A	p.SK709fs
STAD	TCGA-B7-5816-01	exon_skip_80384	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.P982fs
STAD	TCGA-B7-5816-01	exon_skip_80384	14631251	14631406	14631256	14631257	Frame_Shift_Ins	-	A	p.P982fs
UCEC	TCGA-B5-A0JY-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14576892	14576892	Nonsense_Mutation	C	T	p.R15*
UCEC	TCGA-D1-A0ZS-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14576892	14576892	Nonsense_Mutation	C	T	p.R15*
LUAD	TCGA-NJ-A4YI-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577231	14577231	Nonsense_Mutation	G	T	p.E136*
LUSC	TCGA-46-3769-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577231	14577231	Nonsense_Mutation	G	T	p.E128*
LUAD	TCGA-MN-A4N4-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14577288	14577288	Nonsense_Mutation	G	T	p.G155*
LUAD	TCGA-86-8279-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14578050	14578050	Nonsense_Mutation	G	T	p.E409*
ACC	TCGA-OR-A5KB-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14578095	14578095	Nonsense_Mutation	G	T	p.E424*
LUAD	TCGA-86-8073-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14578095	14578095	Nonsense_Mutation	G	T	p.E424*
BLCA	TCGA-S5-A6DX-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14578263	14578263	Nonsense_Mutation	G	T	p.E480*
UCEC	TCGA-B5-A0JY-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14578317	14578317	Nonsense_Mutation	G	T	p.E490*
UCEC	TCGA-D1-A17Q-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14578392	14578392	Nonsense_Mutation	G	T	p.E515*
UCEC	TCGA-D1-A0ZO-01	exon_skip_80381	14591064	14591201	14591145	14591145	Nonsense_Mutation	C	T	p.R625*
UCEC	TCGA-AX-A05W-01	exon_skip_80383	14610141	14610229	14610169	14610169	Nonsense_Mutation	G	T	p.E700*
UCEC	TCGA-AX-A05Z-01	exon_skip_80376 exon_skip_80377	14576843	14578407	14576842	14576842	Splice_Site	G	A	e1-1
LUAD	TCGA-95-7567-01	exon_skip_80382	14599922	14599987	14599920	14599920	Splice_Site	A	G	p.A644_splice
LUAD	TCGA-97-7938-01	exon_skip_80383	14610141	14610229	14610230	14610230	Splice_Site	G	T	p.V720_splice
READ	TCGA-EI-6917-01	exon_skip_80383	14610141	14610229	14610231	14610231	Splice_Site	T	C	.
LIHC	TCGA-DD-A3A7-01	exon_skip_80384	14631251	14631406	14631250	14631250	Splice_Site	G	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-97-7938-01
	Cancer type: LUAD
	ESID: exon_skip_80383
	Skipped exon start: 14610141
	Skipped exon end: 14610229
	Mutation start: 14610230
	Mutation end: 14610230
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: p.V720_splice
exon_skip_286384_LUAD_TCGA-97-7938-01.png
exon_skip_491453_LUAD_TCGA-97-7938-01.png
exon_skip_80383_LUAD_TCGA-97-7938-01.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
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	14576843	14578407	14577481	14577491	Frame_Shift_Del	CAGGTGAACCG	-	p.PGEP211fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	14576843	14578407	14577802	14577802	Frame_Shift_Del	A	-	p.E318fs
LOVO_LARGE_INTESTINE	14576843	14578407	14577802	14577802	Frame_Shift_Del	A	-	p.E318fs
D247MG_CENTRAL_NERVOUS_SYSTEM	14576843	14578407	14577802	14577802	Frame_Shift_Del	A	-	p.E318fs
NCIH2461_PLEURA	14576843	14578407	14578093	14578093	Frame_Shift_Del	T	-	p.I415fs
LOUNH91_LUNG	14576843	14578407	14578224	14578224	Frame_Shift_Del	C	-	p.P459fs
HEC108_ENDOMETRIUM	14576843	14578407	14578332	14578333	Frame_Shift_Del	CT	-	p.L495fs
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	14576843	14578407	14578360	14578360	Frame_Shift_Del	A	-	p.E504fs
NCIH3122_LUNG	14576843	14578407	14576873	14576874	Frame_Shift_Ins	-	A	p.K9fs
SKMEL2_SKIN	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.E318fs
LS180_LARGE_INTESTINE	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.E318fs
CL34_LARGE_INTESTINE	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.E318fs
CW2_LARGE_INTESTINE	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.E318fs
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	14576843	14578407	14577801	14577802	Frame_Shift_Ins	-	A	p.E318fs
SNU407_LARGE_INTESTINE	14576843	14578407	14577860	14577861	Frame_Shift_Ins	-	A	p.K338fs
H2369_PLEURA	14576843	14578407	14578367	14578368	Frame_Shift_Ins	-	A	p.E507fs
D341MED_CENTRAL_NERVOUS_SYSTEM	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
22RV1_PROSTATE	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
253J_URINARY_TRACT	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
AM38_CENTRAL_NERVOUS_SYSTEM	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
CAL51_BREAST	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
JHOC5_OVARY	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
MCF7_BREAST	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
RH41_SOFT_TISSUE	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
RKO_LARGE_INTESTINE	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
SKBR3_BREAST	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
VMRCRCW_KIDNEY	14631251	14631406	14631255	14631256	Frame_Shift_Ins	-	A	p.K983fs
F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	14576843	14578407	14577358	14577372	In_Frame_Del	CCTCTGGTGATGCAA	-	p.SGDAT171del
KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	14576843	14578407	14577358	14577372	In_Frame_Del	CCTCTGGTGATGCAA	-	p.SGDAT171del
YH13_CENTRAL_NERVOUS_SYSTEM	14576843	14578407	14577433	14577447	In_Frame_Del	CTGCTGATGATCTCT	-	p.ADDLS196del
TIG3TD_FIBROBLAST	14576843	14578407	14577250	14577250	Missense_Mutation	C	T	p.P134L
NCIH2135_LUNG	14576843	14578407	14577336	14577336	Missense_Mutation	G	A	p.E163K
CAL120_BREAST	14576843	14578407	14577387	14577387	Missense_Mutation	C	A	p.P180T
OC316_OVARY	14576843	14578407	14577420	14577420	Missense_Mutation	T	C	p.S191P
OC314_OVARY	14576843	14578407	14577420	14577420	Missense_Mutation	T	C	p.S191P
NCIH1930_LUNG	14576843	14578407	14577442	14577442	Missense_Mutation	A	T	p.D198V
HS934T_FIBROBLAST	14576843	14578407	14577483	14577483	Missense_Mutation	G	A	p.G212S
MCC26_SKIN	14576843	14578407	14577534	14577534	Missense_Mutation	A	T	p.I229L
SNU449_LIVER	14576843	14578407	14577598	14577598	Missense_Mutation	C	A	p.A250D
SNU1040_LARGE_INTESTINE	14576843	14578407	14577672	14577672	Missense_Mutation	G	A	p.A275T
A2780_OVARY	14576843	14578407	14578042	14578042	Missense_Mutation	A	G	p.N398S
MM386_SKIN	14576843	14578407	14578081	14578081	Missense_Mutation	A	T	p.N411I
LB373EBV_MATCHED_NORMAL_TISSUE	14576843	14578407	14578189	14578189	Missense_Mutation	A	T	p.D447V
LB373MELD_SKIN	14576843	14578407	14578189	14578189	Missense_Mutation	A	T	p.D447V
LNCAPCLONEFGC_PROSTATE	14576843	14578407	14578230	14578230	Missense_Mutation	G	A	p.D461N
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	14576843	14578407	14578393	14578393	Missense_Mutation	A	G	p.E515G
LCLC103H_LUNG	14591064	14591201	14591131	14591131	Missense_Mutation	C	G	p.A620G
NCIH1975_LUNG	14591064	14591201	14591137	14591137	Missense_Mutation	T	C	p.L622S
HCC2108_LUNG	14591064	14591201	14591174	14591174	Missense_Mutation	G	T	p.R634S
HT115_LARGE_INTESTINE	14591064	14591201	14591187	14591187	Missense_Mutation	C	T	p.L639F
639V_URINARY_TRACT	14599922	14599987	14599931	14599931	Missense_Mutation	G	A	p.A647T
GP5D_LARGE_INTESTINE	14599922	14599987	14599975	14599975	Missense_Mutation	G	T	p.K661N
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	14610141	14610229	14610220	14610220	Missense_Mutation	G	A	p.V717M
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	14631251	14631406	14631364	14631364	Missense_Mutation	A	G	p.T1019A
KMBC2_URINARY_TRACT	14576843	14578407	14576892	14576892	Nonsense_Mutation	C	T	p.R15*
JHUEM1_ENDOMETRIUM	14576843	14578407	14577019	14577019	Nonsense_Mutation	C	A	p.S57*
HCC1359_LUNG	14576843	14578407	14577054	14577054	Nonsense_Mutation	G	T	p.E69*
HCC2998_LARGE_INTESTINE	14576843	14578407	14577936	14577936	Nonsense_Mutation	C	T	p.R363*
NCIH2009_LUNG	14576843	14578407	14577963	14577963	Nonsense_Mutation	G	T	p.E372*
SNUC2A_LARGE_INTESTINE	14610141	14610229	14610160	14610160	Nonsense_Mutation	C	T	p.Q697*
SNUC2B_LARGE_INTESTINE	14610141	14610229	14610160	14610160	Nonsense_Mutation	C	T	p.Q697*
HEC59_ENDOMETRIUM	14587271	14587357	14587271	14587271	Splice_Site	C	T	p.A520V
HEC59_ENDOMETRIUM	14587274	14587357	14587271	14587271	Splice_Site	C	T	p.A520V
JHH7_LIVER	14610141	14610229	14610228	14610228	Splice_Site	A	G	p.T719T
MPP89_PLEURA	14610141	14610229	14610229	14610229	Splice_Site	G	-	p.V720fs

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATF7IP

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_80376	12	14518662:14518761:14576842:14578407:14587270:14587357	14576842:14578407	ENST00000537653.1,ENST00000261168.4	CESC	rs2231909	chr12:14577892	A/T	1.05e-03
exon_skip_80376	12	14518662:14518761:14576842:14578407:14587270:14587357	14576842:14578407	ENST00000537653.1,ENST00000261168.4	CESC	rs2231909	chr12:14577892	A/T	1.06e-03
exon_skip_80377	12	14518662:14518761:14576842:14578407:14587273:14587357	14576842:14578407	ENST00000543189.1,ENST00000536444.1	CESC	rs2231909	chr12:14577892	A/T	1.05e-03
exon_skip_80377	12	14518662:14518761:14576842:14578407:14587273:14587357	14576842:14578407	ENST00000543189.1,ENST00000536444.1	CESC	rs2231909	chr12:14577892	A/T	1.06e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATF7IP

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATF7IP

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RelatedDrugs for ATF7IP

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 ATF7IP

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ATF7IP	C0023485	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	1	CTD_human
ATF7IP	C0027658	Neoplasms, Germ Cell and Embryonal	1	CTD_human
ATF7IP	C0039590	Testicular Neoplasms	1	CTD_human

	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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