ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MFAP3

Gene summary

Gene information	Gene symbol	MFAP3
	Gene ID	4238
	Gene name	microfibril associated protein 3
	Synonyms	-
	Cytomap	5q33.2
	Type of gene	protein-coding
	Description	microfibril-associated glycoprotein 3microfibrillar associated protein 3
	Modification date	20180519
	UniProtAcc	P55082
	Context	PubMed: MFAP3 [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 MFAP3 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 MFAP3

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 MFAP3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENSG00000037749.7	ENST00000436816.1
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENSG00000037749.7	ENST00000519928.1
exon_skip_438992	5	153476583:153476831:153501277:153501457:153514404:153514476	153501277:153501457	ENSG00000037749.7	ENST00000519612.1
exon_skip_438995	5	153476583:153476831:153514404:153514476:153529425:153529500	153514404:153514476	ENSG00000037749.7	ENST00000519325.1
exon_skip_438997	5	153501277:153501457:153514404:153514476:153529425:153529500	153514404:153514476	ENSG00000037749.7	ENST00000519612.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MFAP3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENSG00000037749.7	ENST00000436816.1
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENSG00000037749.7	ENST00000519928.1
exon_skip_438992	5	153476583:153476831:153501277:153501457:153514404:153514476	153501277:153501457	ENSG00000037749.7	ENST00000519612.1
exon_skip_438994	5	153476583:153476831:153501277:153501457:153529425:153529500	153501277:153501457	ENSG00000037749.7	ENST00000518497.1
exon_skip_438995	5	153476583:153476831:153514404:153514476:153529425:153529500	153514404:153514476	ENSG00000037749.7	ENST00000519325.1
exon_skip_438997	5	153501277:153501457:153514404:153514476:153529425:153529500	153514404:153514476	ENSG00000037749.7	ENST00000519612.1

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 MFAP3

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 MFAP3

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 MFAP3

- 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_438985	153429117	153429577	153429339	153429339	Frame_Shift_Del	T	-	p.A19fs
HNSC	TCGA-CR-6473-01	exon_skip_438985	153429117	153429577	153429537	153429537	Nonsense_Mutation	G	A	p.W85*

- 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
HS343T_FIBROBLAST	153429117	153429577	153429296	153429296	Missense_Mutation	G	T	p.C5F
HS343T_FIBROBLAST	153429117	153429577	153429298	153429298	Missense_Mutation	T	G	p.C6G
OV56_OVARY	153429117	153429577	153429307	153429307	Missense_Mutation	A	C	p.T9P
UMUC1_URINARY_TRACT	153429117	153429577	153429377	153429377	Missense_Mutation	C	T	p.S32L
HCC2998_LARGE_INTESTINE	153429117	153429577	153429391	153429391	Missense_Mutation	C	T	p.R37C
UMUC16_URINARY_TRACT	153429117	153429577	153429434	153429434	Missense_Mutation	C	T	p.S51L
HCC1569_BREAST	153429117	153429577	153429458	153429458	Missense_Mutation	A	G	p.D59G
TGBC11TKB_STOMACH	153429117	153429577	153429509	153429509	Missense_Mutation	C	T	p.T76I
TTC549_SOFT_TISSUE	153429117	153429577	153429521	153429521	Missense_Mutation	A	G	p.Y80C
HCT15_LARGE_INTESTINE	153429117	153429577	153429536	153429536	Missense_Mutation	G	T	p.W85L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MFAP3

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_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	GBM	rs690592	chr5:153429459	T/C	4.53e-05
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	GBM	rs689715	chr5:153429187	A/T	9.54e-05
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	GBM	rs478020	chr5:153429169	A/G	1.56e-04
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	COAD	rs478020	chr5:153429169	A/G	1.47e-03
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	COAD	rs689715	chr5:153429187	A/T	1.80e-03
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	ESCA	rs689715	chr5:153429187	A/T	4.73e-05
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	ESCA	rs478020	chr5:153429169	A/G	6.01e-05
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	ESCA	rs690592	chr5:153429459	T/C	1.25e-04
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	BRCA	rs690592	chr5:153429459	T/C	3.92e-09
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	BRCA	rs689715	chr5:153429187	A/T	8.68e-08
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	BRCA	rs478020	chr5:153429169	A/G	5.66e-06
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	LGG	rs690592	chr5:153429459	T/C	2.53e-04
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	LGG	rs689715	chr5:153429187	A/T	9.62e-04
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	LGG	rs478020	chr5:153429169	A/G	1.18e-03
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	KIRC	rs690592	chr5:153429459	T/C	2.67e-07
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	KIRC	rs689715	chr5:153429187	A/T	3.50e-06
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	KIRC	rs478020	chr5:153429169	A/G	6.31e-06
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	LUAD	rs689715	chr5:153429187	A/T	6.96e-04
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	LUAD	rs478020	chr5:153429169	A/G	7.67e-04
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	LUAD	rs690592	chr5:153429459	T/C	9.53e-04
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	LUSC	rs478020	chr5:153429169	A/G	2.05e-05
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	LUSC	rs690592	chr5:153429459	T/C	2.83e-05
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	LUSC	rs689715	chr5:153429187	A/T	5.48e-04
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	SARC	rs689715	chr5:153429187	A/T	3.96e-04
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	SARC	rs690592	chr5:153429459	T/C	4.06e-04
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	STAD	rs690592	chr5:153429459	T/C	3.10e-09
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	STAD	rs689715	chr5:153429187	A/T	4.62e-08
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	STAD	rs478020	chr5:153429169	A/G	6.44e-08
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	THCA	rs689715	chr5:153429187	A/T	1.03e-03
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	THCA	rs690592	chr5:153429459	T/C	1.39e-03
exon_skip_438985	5	153418533:153418571:153429116:153429577:153432479:153432512	153429116:153429577	ENST00000436816.1	THCA	rs478020	chr5:153429169	A/G	1.68e-03
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	GBM	rs2578369	chr5:153431458	T/C	4.53e-05
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	GBM	rs2578368	chr5:153431469	T/A	4.53e-05
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	ESCA	rs2578369	chr5:153431458	T/C	8.95e-05
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	ESCA	rs2578368	chr5:153431469	T/A	8.95e-05
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	BRCA	rs2578369	chr5:153431458	T/C	1.09e-08
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	BRCA	rs2578368	chr5:153431469	T/A	1.09e-08
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	LGG	rs2578369	chr5:153431458	T/C	2.30e-04
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	LGG	rs2578368	chr5:153431469	T/A	2.30e-04
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	KIRC	rs2578369	chr5:153431458	T/C	1.84e-07
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	KIRC	rs2578368	chr5:153431469	T/A	1.84e-07
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	LUAD	rs2578369	chr5:153431458	T/C	5.02e-04
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	LUAD	rs2578368	chr5:153431469	T/A	5.02e-04
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	LUSC	rs2578369	chr5:153431458	T/C	1.24e-05
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	LUSC	rs2578368	chr5:153431469	T/A	1.24e-05
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	SARC	rs2578369	chr5:153431458	T/C	4.10e-04
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	SARC	rs2578368	chr5:153431469	T/A	4.10e-04
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	STAD	rs2578369	chr5:153431458	T/C	1.40e-09
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	STAD	rs2578368	chr5:153431469	T/A	1.40e-09
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	THCA	rs2578369	chr5:153431458	T/C	1.45e-03
exon_skip_438990	5	153429422:153429577:153431296:153431503:153432479:153432512	153431296:153431503	ENST00000519928.1	THCA	rs2578368	chr5:153431469	T/A	1.45e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MFAP3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MFAP3

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RelatedDrugs for MFAP3

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 MFAP3

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 MFAP3

Exon skipping events across known transcript of Ensembl for MFAP3 from UCSC genome browser

Gene isoform structures and expression levels for MFAP3

Exon skipping events with PSIs in TCGA for MFAP3

Exon skipping events with PSIs in GTEx for MFAP3

Open reading frame (ORF) annotation in the exon skipping event for MFAP3

Infer the effects of exon skipping event on protein functional features for MFAP3

SNVs in the skipped exons for MFAP3

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MFAP3

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MFAP3

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MFAP3

RelatedDrugs for MFAP3

RelatedDiseases for MFAP3