ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for BTN3A3

Gene summary

Gene information	Gene symbol	BTN3A3
	Gene ID	10384
	Gene name	butyrophilin subfamily 3 member A3
	Synonyms	BTF3\|BTN3.3
	Cytomap	6p22.2
	Type of gene	protein-coding
	Description	butyrophilin subfamily 3 member A3butyrophilin 3butyrophilin subfamily 3 member A3 secreted isoform
	Modification date	20180523
	UniProtAcc	O00478
	Context	PubMed: BTN3A3 [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 BTN3A3 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 BTN3A3

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 BTN3A3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_448643	6	26440785:26440876:26443594:26443670:26444184:26444512	26443594:26443670	ENSG00000111801.11	ENST00000480110.1
exon_skip_448646	6	26440785:26440876:26443609:26443670:26443797:26443887	26443609:26443670	ENSG00000111801.11	ENST00000244519.2,ENST00000474790.1,ENST00000482451.1
exon_skip_448647	6	26440785:26440876:26443609:26443670:26443868:26443887	26443609:26443670	ENSG00000111801.11	ENST00000339789.4,ENST00000361232.3
exon_skip_448648	6	26440785:26440876:26443609:26443670:26444184:26444512	26443609:26443670	ENSG00000111801.11	ENST00000471353.1
exon_skip_448657	6	26440724:26440947:26443609:26443670:26444184:26444512	26443609:26443670	ENSG00000111801.11	ENST00000487627.1
exon_skip_448659	6	26443609:26443670:26443797:26443887:26444184:26444512	26443797:26443887	ENSG00000111801.11	ENST00000244519.2,ENST00000494393.1,ENST00000496719.1
exon_skip_448663	6	26443609:26443670:26443868:26443887:26444184:26444512	26443868:26443887	ENSG00000111801.11	ENST00000339789.4,ENST00000361232.3
exon_skip_448680	6	26444238:26444532:26445931:26446213:26448475:26448637	26445931:26446213	ENSG00000111801.11	ENST00000244519.2,ENST00000339789.4,ENST00000361232.3,ENST00000487272.1
exon_skip_448685	6	26445931:26446213:26448475:26448676:26448955:26448982	26448475:26448676	ENSG00000111801.11	ENST00000361232.3
exon_skip_448687	6	26448475:26448676:26448844:26448865:26448955:26448982	26448844:26448865	ENSG00000111801.11	ENST00000244519.2,ENST00000339789.4,ENST00000483179.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for BTN3A3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_448643	6	26440785:26440876:26443594:26443670:26444184:26444512	26443594:26443670	ENSG00000111801.11	ENST00000480110.1
exon_skip_448646	6	26440785:26440876:26443609:26443670:26443797:26443887	26443609:26443670	ENSG00000111801.11	ENST00000482451.1,ENST00000244519.2,ENST00000474790.1
exon_skip_448647	6	26440785:26440876:26443609:26443670:26443868:26443887	26443609:26443670	ENSG00000111801.11	ENST00000339789.4,ENST00000361232.3
exon_skip_448648	6	26440785:26440876:26443609:26443670:26444184:26444512	26443609:26443670	ENSG00000111801.11	ENST00000471353.1
exon_skip_448657	6	26440724:26440947:26443609:26443670:26444184:26444512	26443609:26443670	ENSG00000111801.11	ENST00000487627.1
exon_skip_448659	6	26443609:26443670:26443797:26443887:26444184:26444512	26443797:26443887	ENSG00000111801.11	ENST00000494393.1,ENST00000244519.2,ENST00000496719.1
exon_skip_448663	6	26443609:26443670:26443868:26443887:26444184:26444512	26443868:26443887	ENSG00000111801.11	ENST00000339789.4,ENST00000361232.3
exon_skip_448680	6	26444238:26444532:26445931:26446213:26448475:26448637	26445931:26446213	ENSG00000111801.11	ENST00000244519.2,ENST00000339789.4,ENST00000361232.3,ENST00000487272.1
exon_skip_448685	6	26445931:26446213:26448475:26448676:26448955:26448982	26448475:26448676	ENSG00000111801.11	ENST00000361232.3
exon_skip_448687	6	26448475:26448676:26448844:26448865:26448955:26448982	26448844:26448865	ENSG00000111801.11	ENST00000244519.2,ENST00000339789.4,ENST00000483179.1

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 BTN3A3

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
ENST00000244519	26443797	26443887	5CDS-5UTR
ENST00000244519	26443609	26443670	5UTR-5UTR
ENST00000244519	26445931	26446213	In-frame
ENST00000244519	26448844	26448865	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
ENST00000244519	26443797	26443887	5CDS-5UTR
ENST00000244519	26443609	26443670	5UTR-5UTR
ENST00000244519	26445931	26446213	In-frame
ENST00000244519	26448844	26448865	In-frame

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Infer the effects of exon skipping event on protein functional features for BTN3A3

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
ENST00000244519	3019	584	26445931	26446213	677	958	144	238

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
ENST00000244519	3019	584	26445931	26446213	677	958	144	238

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
O00478	144	238	133	145	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	151	158	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	161	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	176	181	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	202	210	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	218	224	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	229	235	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	30	584	Chain	ID=PRO_0000014534;Note=Butyrophilin subfamily 3 member A3
O00478	144	238	166	220	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114,ECO:0000269\|PubMed:22846996;Dbxref=PMID:22846996
O00478	144	238	145	236	Domain	Note=Ig-like V-type 2
O00478	144	238	229	229	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O00478	144	238	30	248	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00478	144	238	225	228	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T

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
O00478	144	238	133	145	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	151	158	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	161	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	176	181	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	202	210	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	218	224	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	229	235	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T
O00478	144	238	30	584	Chain	ID=PRO_0000014534;Note=Butyrophilin subfamily 3 member A3
O00478	144	238	166	220	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114,ECO:0000269\|PubMed:22846996;Dbxref=PMID:22846996
O00478	144	238	145	236	Domain	Note=Ig-like V-type 2
O00478	144	238	229	229	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O00478	144	238	30	248	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00478	144	238	225	228	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F8T

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SNVs in the skipped exons for BTN3A3

- 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_448685	26448476	26448676	26448524	26448524	Frame_Shift_Del	C	-	p.T255fs
SARC	TCGA-DX-AATS-01	exon_skip_448680	26445932	26446213	26445970	26445970	Nonsense_Mutation	G	T	p.E158*
LUSC	TCGA-46-3769-01	exon_skip_448680	26445932	26446213	26445991	26445991	Nonsense_Mutation	G	T	p.E165*

- 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
HS822T_FIBROBLAST	26448476	26448676	26448586	26448587	Frame_Shift_Ins	-	A	p.E276fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26448476	26448676	26448586	26448587	Frame_Shift_Ins	-	A	p.E276fs
HUH1_LIVER	26448476	26448676	26448586	26448587	Frame_Shift_Ins	-	A	p.E276fs
NCIH1048_LUNG	26448476	26448676	26448586	26448587	Frame_Shift_Ins	-	A	p.E276fs
HEC59_ENDOMETRIUM	26443798	26443887	26443812	26443812	Missense_Mutation	G	A	p.A4T
HCT116_LARGE_INTESTINE	26443798	26443887	26443857	26443857	Missense_Mutation	T	C	p.F19L
NB1_AUTONOMIC_GANGLIA	26443869	26443887	26443863	26443863	Missense_Mutation	G	T	p.V21F
NB1_AUTONOMIC_GANGLIA	26443798	26443887	26443863	26443863	Missense_Mutation	G	T	p.V21F
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26443869	26443887	26443863	26443863	Missense_Mutation	G	A	p.V21I
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26443798	26443887	26443863	26443863	Missense_Mutation	G	A	p.V21I
SMSCTR_SOFT_TISSUE	26443869	26443887	26443875	26443875	Missense_Mutation	A	C	p.T25P
SMSCTR_SOFT_TISSUE	26443798	26443887	26443875	26443875	Missense_Mutation	A	C	p.T25P
SNU719_STOMACH	26445932	26446213	26445973	26445973	Missense_Mutation	G	A	p.D159N
HEC6_ENDOMETRIUM	26445932	26446213	26446106	26446106	Missense_Mutation	C	T	p.A203V
MDAMB175VII_BREAST	26445932	26446213	26446144	26446144	Missense_Mutation	G	T	p.G216W
MZ7MEL_SKIN	26445932	26446213	26446145	26446145	Missense_Mutation	G	A	p.G216E
LS513_LARGE_INTESTINE	26445932	26446213	26446150	26446150	Missense_Mutation	G	T	p.V218L
A427_LUNG	26448476	26448676	26448493	26448493	Missense_Mutation	G	T	p.A245S
SNGM_ENDOMETRIUM	26448476	26448676	26448518	26448518	Missense_Mutation	C	T	p.A253V
BT474_BREAST	26448476	26448676	26448625	26448625	Missense_Mutation	G	C	p.E289Q
RH30_SOFT_TISSUE	26448476	26448676	26448496	26448496	Nonsense_Mutation	C	T	p.Q246*
SJRH30_SOFT_TISSUE	26448476	26448676	26448496	26448496	Nonsense_Mutation	C	T	p.Q246*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BTN3A3

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_448680	6	26444238:26444532:26445931:26446213:26448475:26448637	26445931:26446213	ENST00000244519.2,ENST00000339789.4,ENST00000361232.3,ENST00000487272.1	GBM	rs3846848	chr6:26446209	C/T	2.35e-06
exon_skip_448680	6	26444238:26444532:26445931:26446213:26448475:26448637	26445931:26446213	ENST00000244519.2,ENST00000339789.4,ENST00000361232.3,ENST00000487272.1	BRCA	rs3846848	chr6:26446209	C/T	7.67e-05
exon_skip_448680	6	26444238:26444532:26445931:26446213:26448475:26448637	26445931:26446213	ENST00000244519.2,ENST00000339789.4,ENST00000361232.3,ENST00000487272.1	LGG	rs3846848	chr6:26446209	C/T	2.70e-05
exon_skip_448680	6	26444238:26444532:26445931:26446213:26448475:26448637	26445931:26446213	ENST00000244519.2,ENST00000339789.4,ENST00000361232.3,ENST00000487272.1	KIRC	rs3846848	chr6:26446209	C/T	1.75e-08
exon_skip_448680	6	26444238:26444532:26445931:26446213:26448475:26448637	26445931:26446213	ENST00000244519.2,ENST00000339789.4,ENST00000361232.3,ENST00000487272.1	LUAD	rs3846848	chr6:26446209	C/T	2.08e-04
exon_skip_448680	6	26444238:26444532:26445931:26446213:26448475:26448637	26445931:26446213	ENST00000244519.2,ENST00000339789.4,ENST00000361232.3,ENST00000487272.1	LUSC	rs3846848	chr6:26446209	C/T	5.92e-04
exon_skip_448680	6	26444238:26444532:26445931:26446213:26448475:26448637	26445931:26446213	ENST00000244519.2,ENST00000339789.4,ENST00000361232.3,ENST00000487272.1	OV	rs3846848	chr6:26446209	C/T	1.19e-08
exon_skip_448659	6	26443609:26443670:26443797:26443887:26444184:26444512	26443797:26443887	ENST00000244519.2,ENST00000494393.1,ENST00000496719.1	GBM	rs56036950	chr6:26443853	C/A	2.35e-06
exon_skip_448659	6	26443609:26443670:26443797:26443887:26444184:26444512	26443797:26443887	ENST00000244519.2,ENST00000494393.1,ENST00000496719.1	BRCA	rs56036950	chr6:26443853	C/A	7.67e-05
exon_skip_448659	6	26443609:26443670:26443797:26443887:26444184:26444512	26443797:26443887	ENST00000244519.2,ENST00000494393.1,ENST00000496719.1	LGG	rs56036950	chr6:26443853	C/A	2.70e-05
exon_skip_448659	6	26443609:26443670:26443797:26443887:26444184:26444512	26443797:26443887	ENST00000244519.2,ENST00000494393.1,ENST00000496719.1	KIRC	rs56036950	chr6:26443853	C/A	1.75e-08
exon_skip_448659	6	26443609:26443670:26443797:26443887:26444184:26444512	26443797:26443887	ENST00000244519.2,ENST00000494393.1,ENST00000496719.1	LUAD	rs56036950	chr6:26443853	C/A	2.08e-04
exon_skip_448659	6	26443609:26443670:26443797:26443887:26444184:26444512	26443797:26443887	ENST00000244519.2,ENST00000494393.1,ENST00000496719.1	LUSC	rs56036950	chr6:26443853	C/A	5.92e-04
exon_skip_448659	6	26443609:26443670:26443797:26443887:26444184:26444512	26443797:26443887	ENST00000244519.2,ENST00000494393.1,ENST00000496719.1	OV	rs56036950	chr6:26443853	C/A	1.19e-08

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BTN3A3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BTN3A3

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RelatedDrugs for BTN3A3

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 BTN3A3

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 BTN3A3

Exon skipping events across known transcript of Ensembl for BTN3A3 from UCSC genome browser

Gene isoform structures and expression levels for BTN3A3

Exon skipping events with PSIs in TCGA for BTN3A3

Exon skipping events with PSIs in GTEx for BTN3A3

Open reading frame (ORF) annotation in the exon skipping event for BTN3A3

Infer the effects of exon skipping event on protein functional features for BTN3A3

SNVs in the skipped exons for BTN3A3

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BTN3A3

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BTN3A3

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BTN3A3

RelatedDrugs for BTN3A3

RelatedDiseases for BTN3A3