ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for FRAS1

Gene summary

Gene information	Gene symbol	FRAS1
	Gene ID	80144
	Gene name	Fraser extracellular matrix complex subunit 1
	Synonyms	FRASRS1
	Cytomap	4q21.21
	Type of gene	protein-coding
	Description	extracellular matrix protein FRAS1Fraser syndrome 1
	Modification date	20180519
	UniProtAcc	Q86XX4
	Context	PubMed: FRAS1 [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 FRAS1 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 FRAS1

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 FRAS1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_424589	4	78987138:78987170:79158663:79158771:79166386:79166479	79158663:79158771	ENSG00000138759.13	ENST00000264895.6,ENST00000325942.6,ENST00000264899.6
exon_skip_424592	4	79173545:79173705:79176395:79176529:79186178:79186262	79176395:79176529	ENSG00000138759.13	ENST00000502446.1,ENST00000264895.6,ENST00000325942.6,ENST00000264899.6
exon_skip_424594	4	79199808:79199898:79202551:79202587:79203973:79204121	79202551:79202587	ENSG00000138759.13	ENST00000502446.1,ENST00000264895.6,ENST00000325942.6,ENST00000508900.1,ENST00000264899.6
exon_skip_424595	4	79205558:79205702:79207558:79207693:79229219:79229363	79207558:79207693	ENSG00000138759.13	ENST00000502446.1,ENST00000264895.6,ENST00000325942.6,ENST00000508900.1,ENST00000264899.6
exon_skip_424597	4	79293871:79294012:79295264:79295405:79296892:79297033	79295264:79295405	ENSG00000138759.13	ENST00000264895.6,ENST00000325942.6
exon_skip_424598	4	79296892:79297033:79300879:79301150:79305212:79305297	79300879:79301150	ENSG00000138759.13	ENST00000264895.6,ENST00000325942.6
exon_skip_424599	4	79340191:79340217:79343016:79343154:79345541:79345574	79343016:79343154	ENSG00000138759.13	ENST00000264895.6,ENST00000325942.6
exon_skip_424600	4	79351445:79351571:79353510:79353758:79359723:79359872	79353510:79353758	ENSG00000138759.13	ENST00000264895.6,ENST00000510944.1,ENST00000325942.6
exon_skip_424602	4	79371304:79371493:79372925:79373045:79373328:79373508	79372925:79373045	ENSG00000138759.13	ENST00000264895.6,ENST00000512123.1
exon_skip_424603	4	79373328:79373508:79385174:79385299:79385596:79385737	79385174:79385299	ENSG00000138759.13	ENST00000264895.6,ENST00000512123.1
exon_skip_424604	4	79385596:79385737:79387361:79387589:79391131:79391245	79387361:79387589	ENSG00000138759.13	ENST00000264895.6,ENST00000512123.1
exon_skip_424605	4	79402957:79403118:79403541:79403689:79410028:79410234	79403541:79403689	ENSG00000138759.13	ENST00000264895.6,ENST00000512123.1
exon_skip_424607	4	79443802:79443962:79447694:79447811:79455602:79455769	79447694:79447811	ENSG00000138759.13	ENST00000264895.6,ENST00000512123.1
exon_skip_424608	4	79458148:79458354:79460447:79460594:79461684:79462278	79460447:79460594	ENSG00000138759.13	ENST00000264895.6,ENST00000512123.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for FRAS1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_424587	4	78987138:78987170:78989706:78989843:78991615:78993261	78989706:78989843	ENSG00000138759.13	ENST00000508909.1
exon_skip_424589	4	78987138:78987170:79158663:79158771:79166386:79166479	79158663:79158771	ENSG00000138759.13	ENST00000325942.6,ENST00000264895.6,ENST00000264899.6
exon_skip_424592	4	79173545:79173705:79176395:79176529:79186178:79186262	79176395:79176529	ENSG00000138759.13	ENST00000325942.6,ENST00000264895.6,ENST00000264899.6,ENST00000502446.1
exon_skip_424594	4	79199808:79199898:79202551:79202587:79203973:79204121	79202551:79202587	ENSG00000138759.13	ENST00000325942.6,ENST00000264895.6,ENST00000264899.6,ENST00000502446.1,ENST00000508900.1
exon_skip_424595	4	79205558:79205702:79207558:79207693:79229219:79229363	79207558:79207693	ENSG00000138759.13	ENST00000325942.6,ENST00000264895.6,ENST00000264899.6,ENST00000502446.1,ENST00000508900.1
exon_skip_424597	4	79293871:79294012:79295264:79295405:79296892:79297033	79295264:79295405	ENSG00000138759.13	ENST00000325942.6,ENST00000264895.6
exon_skip_424598	4	79296892:79297033:79300879:79301150:79305212:79305297	79300879:79301150	ENSG00000138759.13	ENST00000325942.6,ENST00000264895.6
exon_skip_424600	4	79351445:79351571:79353510:79353758:79359723:79359872	79353510:79353758	ENSG00000138759.13	ENST00000325942.6,ENST00000264895.6,ENST00000510944.1
exon_skip_424603	4	79373328:79373508:79385174:79385299:79385596:79385737	79385174:79385299	ENSG00000138759.13	ENST00000264895.6,ENST00000512123.1
exon_skip_424604	4	79385596:79385737:79387361:79387589:79391131:79391245	79387361:79387589	ENSG00000138759.13	ENST00000264895.6,ENST00000512123.1
exon_skip_424605	4	79402957:79403118:79403541:79403689:79410028:79410234	79403541:79403689	ENSG00000138759.13	ENST00000264895.6,ENST00000512123.1
exon_skip_424607	4	79443802:79443962:79447694:79447811:79455602:79455769	79447694:79447811	ENSG00000138759.13	ENST00000264895.6,ENST00000512123.1

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 FRAS1

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 FRAS1

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 FRAS1

- 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
DLBC	TCGA-FF-A7CW-01	exon_skip_424592	79176396	79176529	79176419	79176419	Frame_Shift_Del	G	-	p.H164fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_424592	79176396	79176529	79176461	79176461	Frame_Shift_Del	A	-	p.K179fs
LIHC	TCGA-DD-A39Y-01	exon_skip_424592	79176396	79176529	79176479	79176479	Frame_Shift_Del	G	-	p.G185fs
LIHC	TCGA-DD-A3A1-01	exon_skip_424592	79176396	79176529	79176479	79176479	Frame_Shift_Del	G	-	p.G185fs
LIHC	TCGA-DD-A1EG-01	exon_skip_424594	79202552	79202587	79202573	79202573	Frame_Shift_Del	G	-	p.V365fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_424598	79300880	79301150	79300901	79300901	Frame_Shift_Del	T	-	p.L1105fs
UCEC	TCGA-B5-A11O-01	exon_skip_424602	79372926	79373045	79372997	79372997	Frame_Shift_Del	G	-	p.G2179fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_424603	79385175	79385299	79385192	79385192	Frame_Shift_Del	T	-	p.F2261fs
COAD	TCGA-AA-3663-01	exon_skip_424604	79387362	79387589	79387483	79387483	Frame_Shift_Del	G	-	p.R2384fs
LIHC	TCGA-DD-A1EG-01	exon_skip_424604	79387362	79387589	79387578	79387578	Frame_Shift_Del	G	-	p.G2417fs
LIHC	TCGA-DD-A39Y-01	exon_skip_424604	79387362	79387589	79387583	79387583	Frame_Shift_Del	A	-	p.G2417fs
LIHC	TCGA-DD-A3A0-01	exon_skip_424605	79403542	79403689	79403609	79403609	Frame_Shift_Del	T	-	p.V2891fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_424605	79403542	79403689	79403671	79403671	Frame_Shift_Del	A	-	p.N2912fs
SKCM	TCGA-GN-A8LK-06	exon_skip_424589	79158664	79158771	79158678	79158678	Nonsense_Mutation	G	A	p.W41*
SKCM	TCGA-WE-AAA3-06	exon_skip_424592	79176396	79176529	79176425	79176425	Nonsense_Mutation	C	T	p.Q167*
KICH	TCGA-KO-8408-01	exon_skip_424598	79300880	79301150	79301068	79301068	Nonsense_Mutation	C	T	p.Q1161*
KICH	TCGA-KO-8408-01	exon_skip_424598	79300880	79301150	79301068	79301068	Nonsense_Mutation	C	T	p.Q1161X
SKCM	TCGA-EE-A3JD-06	exon_skip_424598	79300880	79301150	79301097	79301097	Nonsense_Mutation	G	A	p.W1170*
SKCM	TCGA-EE-A3JD-06	exon_skip_424598	79300880	79301150	79301097	79301097	Nonsense_Mutation	G	A	p.W1170X
PAAD	TCGA-IB-7651-01	exon_skip_424605	79403542	79403689	79403572	79403572	Nonsense_Mutation	C	T	p.Q2879*
PAAD	TCGA-IB-7651-01	exon_skip_424605	79403542	79403689	79403572	79403572	Nonsense_Mutation	C	T	p.Q2879X
LIHC	TCGA-RG-A7D4-01	exon_skip_424589	79158664	79158771	79158773	79158773	Splice_Site	T	C	.
ESCA	TCGA-Z6-A8JE-01	exon_skip_424603	79385175	79385299	79385300	79385300	Splice_Site	G	T	.
LIHC	TCGA-CC-A8HT-01	exon_skip_424604	79387362	79387589	79387360	79387360	Splice_Site	A	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
NCIH345_LUNG	79158664	79158771	79158670	79158670	Missense_Mutation	A	G	p.T39A
HEC151_ENDOMETRIUM	79158664	79158771	79158674	79158674	Missense_Mutation	T	G	p.I40S
MFE319_ENDOMETRIUM	79158664	79158771	79158727	79158727	Missense_Mutation	T	C	p.C58R
SNU1040_LARGE_INTESTINE	79176396	79176529	79176443	79176443	Missense_Mutation	C	T	p.R173W
NCIH1092_LUNG	79176396	79176529	79176465	79176465	Missense_Mutation	G	A	p.C180Y
SCMCRM2_SOFT_TISSUE	79176396	79176529	79176465	79176465	Missense_Mutation	G	T	p.C180F
BT483_BREAST	79176396	79176529	79176465	79176465	Missense_Mutation	G	A	p.C180Y
AN3CA_ENDOMETRIUM	79176396	79176529	79176506	79176506	Missense_Mutation	T	C	p.C194R
KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79202552	79202587	79202562	79202562	Missense_Mutation	A	G	p.N361S
SNU1_STOMACH	79207559	79207693	79207580	79207580	Missense_Mutation	C	T	p.T474M
ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79207559	79207693	79207655	79207655	Missense_Mutation	G	T	p.C499F
SW684_SOFT_TISSUE	79207559	79207693	79207658	79207658	Missense_Mutation	G	A	p.G500E
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79207559	79207693	79207687	79207687	Missense_Mutation	T	C	p.C510R
KMRC1_KIDNEY	79207559	79207693	79207687	79207687	Missense_Mutation	T	C	p.C510R
KGN_OVARY	79295265	79295405	79295329	79295329	Missense_Mutation	T	G	p.F1025L
SNU1040_LARGE_INTESTINE	79295265	79295405	79295400	79295400	Missense_Mutation	G	A	p.C1049Y
LNCAPCLONEFGC_PROSTATE	79300880	79301150	79300911	79300911	Missense_Mutation	T	A	p.N1108K
IGR1_SKIN	79300880	79301150	79301012	79301012	Missense_Mutation	T	C	p.V1142A
COLO679_SKIN	79300880	79301150	79301030	79301030	Missense_Mutation	A	G	p.N1148S
TC106_BONE	79300880	79301150	79301033	79301033	Missense_Mutation	G	T	p.G1149V
JHUEM7_ENDOMETRIUM	79300880	79301150	79301037	79301037	Missense_Mutation	G	T	p.Q1150H
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	79300880	79301150	79301108	79301108	Missense_Mutation	A	C	p.N1174T
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79300880	79301150	79301122	79301122	Missense_Mutation	C	T	p.R1179C
NCIH1339_LUNG	79353511	79353758	79353514	79353514	Missense_Mutation	A	G	p.D1658G
SF539_CENTRAL_NERVOUS_SYSTEM	79353511	79353758	79353537	79353537	Missense_Mutation	G	A	p.E1666K
G361_SKIN	79353511	79353758	79353547	79353547	Missense_Mutation	C	T	p.A1669V
BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79353511	79353758	79353580	79353580	Missense_Mutation	G	A	p.R1680Q
PCI38_UPPER_AERODIGESTIVE_TRACT	79353511	79353758	79353580	79353580	Missense_Mutation	G	A	p.R1680Q
TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79353511	79353758	79353694	79353694	Missense_Mutation	C	T	p.S1718F
JHH4_LIVER	79372926	79373045	79372934	79372934	Missense_Mutation	G	A	p.E2158K
LN464_CENTRAL_NERVOUS_SYSTEM	79385175	79385299	79385211	79385211	Missense_Mutation	C	A	p.T2267N
ACN_AUTONOMIC_GANGLIA	79385175	79385299	79385211	79385211	Missense_Mutation	C	A	p.T2267N
SEKI_SKIN	79387362	79387589	79387385	79387385	Missense_Mutation	C	G	p.I2351M
BDCM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79387362	79387589	79387417	79387417	Missense_Mutation	G	A	p.R2362Q
TE8_OESOPHAGUS	79387362	79387589	79387503	79387503	Missense_Mutation	G	A	p.G2391S
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79387362	79387589	79387525	79387525	Missense_Mutation	G	A	p.R2398Q
SNU81_LARGE_INTESTINE	79387362	79387589	79387562	79387562	Missense_Mutation	C	A	p.F2410L
HCC1395_BREAST	79387362	79387589	79387569	79387569	Missense_Mutation	A	G	p.I2413V
HCC1395_MATCHED_NORMAL_TISSUE	79387362	79387589	79387569	79387569	Missense_Mutation	A	G	p.I2413V
WM88_SKIN	79403542	79403689	79403587	79403587	Missense_Mutation	G	A	p.E2884K
TE441T_SOFT_TISSUE	79403542	79403689	79403593	79403593	Missense_Mutation	C	A	p.L2886M
TMK1_STOMACH	79403542	79403689	79403629	79403629	Missense_Mutation	G	A	p.G2898R
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79403542	79403689	79403633	79403633	Missense_Mutation	C	T	p.A2899V
RL952_ENDOMETRIUM	79403542	79403689	79403666	79403666	Missense_Mutation	C	T	p.A2910V
MM386_SKIN	79447695	79447811	79447762	79447762	Missense_Mutation	G	A	p.V3626I
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	79460448	79460594	79460463	79460463	Missense_Mutation	G	C	p.E3772Q
H3118_UPPER_AERODIGESTIVE_TRACT	79176396	79176529	79176473	79176473	Nonsense_Mutation	A	T	p.R183*
TGBC11TKB_STOMACH	79176396	79176529	79176488	79176488	Nonsense_Mutation	C	T	p.Q188*
NCIH2342_LUNG	79372926	79373045	79372955	79372955	Nonsense_Mutation	G	T	p.E2165*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FRAS1

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

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FRAS1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FRAS1

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RelatedDrugs for FRAS1

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 FRAS1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
FRAS1	C0024433	Macrostomia	1	CTD_human
FRAS1	C0265233	Cryptophthalmos syndrome	1	CTD_human;ORPHANET

	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 FRAS1

Exon skipping events across known transcript of Ensembl for FRAS1 from UCSC genome browser

Gene isoform structures and expression levels for FRAS1

Exon skipping events with PSIs in TCGA for FRAS1

Exon skipping events with PSIs in GTEx for FRAS1

Open reading frame (ORF) annotation in the exon skipping event for FRAS1

Infer the effects of exon skipping event on protein functional features for FRAS1

SNVs in the skipped exons for FRAS1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FRAS1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FRAS1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FRAS1

RelatedDrugs for FRAS1

RelatedDiseases for FRAS1