ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for FBLN5

Gene summary

Gene information	Gene symbol	FBLN5
	Gene ID	10516
	Gene name	fibulin 5
	Synonyms	ADCL2\|ARCL1A\|ARMD3\|DANCE\|EVEC\|FIBL-5\|HNARMD\|UP50
	Cytomap	14q32.12
	Type of gene	protein-coding
	Description	fibulin-5developmental arteries and neural crest EGF-like proteintestis tissue sperm-binding protein Li 75nurine p50 protein
	Modification date	20180522
	UniProtAcc	Q9UBX5
	Context	PubMed: FBLN5 [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
FBLN5	GO:0046903	secretion	20599547

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Exon skipping events across known transcript of Ensembl for FBLN5 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 FBLN5

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 FBLN5

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_115151	14	92336570:92336729:92343830:92344026:92347635:92347762	92343830:92344026	ENSG00000140092.10	ENST00000267620.10,ENST00000556154.1,ENST00000342058.4
exon_skip_115154	14	92353536:92353656:92357564:92357681:92361293:92361416	92357564:92357681	ENSG00000140092.10	ENST00000267620.10,ENST00000556154.1,ENST00000342058.4
exon_skip_115160	14	92357564:92357681:92361293:92361416:92403290:92403343	92361293:92361416	ENSG00000140092.10	ENST00000267620.10,ENST00000556154.1,ENST00000342058.4
exon_skip_115167	14	92361351:92361416:92403290:92403545:92406908:92406960	92403290:92403545	ENSG00000140092.10	ENST00000556154.1,ENST00000342058.4
exon_skip_115174	14	92403496:92403545:92404673:92404796:92406908:92406960	92404673:92404796	ENSG00000140092.10	ENST00000267620.10
exon_skip_115175	14	92403496:92403545:92406193:92406294:92406908:92406960	92406193:92406294	ENSG00000140092.10	ENST00000557462.1,ENST00000557088.1
exon_skip_115176	14	92403396:92403545:92406908:92406960:92409250:92409305	92406908:92406960	ENSG00000140092.10	ENST00000554468.1,ENST00000556154.1,ENST00000342058.4
exon_skip_115179	14	92406908:92406960:92408380:92408518:92409250:92409305	92408380:92408518	ENSG00000140092.10	ENST00000557462.1
exon_skip_115180	14	92406908:92406960:92408380:92408524:92409250:92409305	92408380:92408524	ENSG00000140092.10	ENST00000557570.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for FBLN5

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_115151	14	92336570:92336729:92343830:92344026:92347635:92347762	92343830:92344026	ENSG00000140092.10	ENST00000267620.10,ENST00000342058.4,ENST00000556154.1
exon_skip_115154	14	92353536:92353656:92357564:92357681:92361293:92361416	92357564:92357681	ENSG00000140092.10	ENST00000267620.10,ENST00000342058.4,ENST00000556154.1
exon_skip_115160	14	92357564:92357681:92361293:92361416:92403290:92403343	92361293:92361416	ENSG00000140092.10	ENST00000267620.10,ENST00000342058.4,ENST00000556154.1
exon_skip_115167	14	92361351:92361416:92403290:92403545:92406908:92406960	92403290:92403545	ENSG00000140092.10	ENST00000342058.4,ENST00000556154.1
exon_skip_115174	14	92403496:92403545:92404673:92404796:92406908:92406960	92404673:92404796	ENSG00000140092.10	ENST00000267620.10
exon_skip_115175	14	92403496:92403545:92406193:92406294:92406908:92406960	92406193:92406294	ENSG00000140092.10	ENST00000557088.1,ENST00000557462.1
exon_skip_115176	14	92403396:92403545:92406908:92406960:92409250:92409305	92406908:92406960	ENSG00000140092.10	ENST00000342058.4,ENST00000556154.1,ENST00000554468.1
exon_skip_115179	14	92406908:92406960:92408380:92408518:92409250:92409305	92408380:92408518	ENSG00000140092.10	ENST00000557462.1
exon_skip_115180	14	92406908:92406960:92408380:92408524:92409250:92409305	92408380:92408524	ENSG00000140092.10	ENST00000557570.1

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 FBLN5

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
ENST00000342058	92343830	92344026	Frame-shift
ENST00000342058	92406908	92406960	Frame-shift
ENST00000342058	92357564	92357681	In-frame
ENST00000342058	92361293	92361416	In-frame
ENST00000342058	92403290	92403545	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
ENST00000342058	92343830	92344026	Frame-shift
ENST00000342058	92406908	92406960	Frame-shift
ENST00000342058	92357564	92357681	In-frame
ENST00000342058	92361293	92361416	In-frame
ENST00000342058	92403290	92403545	In-frame

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Infer the effects of exon skipping event on protein functional features for FBLN5

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
ENST00000342058	2140	448	92403290	92403545	719	973	41	126
ENST00000342058	2140	448	92361293	92361416	974	1096	126	167
ENST00000342058	2140	448	92357564	92357681	1097	1213	167	206

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
ENST00000342058	2140	448	92403290	92403545	719	973	41	126
ENST00000342058	2140	448	92361293	92361416	974	1096	126	167
ENST00000342058	2140	448	92357564	92357681	1097	1213	167	206

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
Q9UBX5	41	126	24	448	Chain	ID=PRO_0000007577;Note=Fibulin-5
Q9UBX5	41	126	46	59	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	41	126	53	68	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	41	126	42	82	Domain	Note=EGF-like 1%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	41	126	54	56	Motif	Note=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UBX5	41	126	48	48	Natural variant	ID=VAR_076289;Note=In HNARMD. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21576112;Dbxref=dbSNP:rs141200859,PMID:21576112
Q9UBX5	41	126	60	60	Natural variant	ID=VAR_019814;Note=In ARMD3%3B no effect on secretion%3B no effect on homodimerization. V->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15269314,ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:20007835;Dbxref=dbSNP:rs1214
Q9UBX5	41	126	71	71	Natural variant	ID=VAR_019815;Note=In ARMD3%3B no effect on secretion%3B no effect on homodimerization. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15269314,ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:20007835;Dbxref=dbSNP:rs1214
Q9UBX5	41	126	87	87	Natural variant	ID=VAR_019816;Note=In ARMD3%3B no effect on secretion%3B slightly increases homodimerization in absence of Ca(2+). P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15269314,ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:2
Q9UBX5	41	126	90	90	Natural variant	ID=VAR_076290;Note=In HNARMD. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21576112;Dbxref=dbSNP:rs144288844,PMID:21576112
Q9UBX5	41	126	124	124	Natural variant	ID=VAR_072389;Note=In ARMD3%3B almost abolishes secretion%3B no effect on homodimerization. Q->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:20007835;Dbxref=PMID:16652333,PMID:20007835
Q9UBX5	41	126	126	126	Natural variant	ID=VAR_072390;Note=Polymorphism%3B no effect on secretion%3B slightly increases homodimerization in absence of Ca(2+). V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:20007835,ECO:0000269\|PubM
Q9UBX5	41	126	69	70	Sequence conflict	Note=IP->HS;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UBX5	126	167	24	448	Chain	ID=PRO_0000007577;Note=Fibulin-5
Q9UBX5	126	167	131	144	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	126	167	138	153	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	126	167	155	166	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	126	167	127	167	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	126	167	126	126	Natural variant	ID=VAR_072390;Note=Polymorphism%3B no effect on secretion%3B slightly increases homodimerization in absence of Ca(2+). V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:20007835,ECO:0000269\|PubM
Q9UBX5	126	167	147	148	Sequence conflict	Note=TE->MK;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UBX5	167	206	24	448	Chain	ID=PRO_0000007577;Note=Fibulin-5
Q9UBX5	167	206	172	181	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	167	206	177	190	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	167	206	192	205	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	167	206	127	167	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	167	206	168	206	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	167	206	169	169	Natural variant	ID=VAR_019817;Note=In ARMD3%3B decreases secretion%3B slightly increases homodimerization in absence of Ca(2+)%3B no effect on protein folding. I->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15269314,ECO:000
Q9UBX5	167	206	202	202	Natural variant	ID=VAR_072391;Note=Polymorphism%3B slightly increases homodimerization in absence of Ca(2+)%3B no effect on protein folding%3B no effect on secretion. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16652333,ECO:0000269\|

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
Q9UBX5	41	126	24	448	Chain	ID=PRO_0000007577;Note=Fibulin-5
Q9UBX5	41	126	46	59	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	41	126	53	68	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	41	126	42	82	Domain	Note=EGF-like 1%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	41	126	54	56	Motif	Note=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UBX5	41	126	48	48	Natural variant	ID=VAR_076289;Note=In HNARMD. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21576112;Dbxref=dbSNP:rs141200859,PMID:21576112
Q9UBX5	41	126	60	60	Natural variant	ID=VAR_019814;Note=In ARMD3%3B no effect on secretion%3B no effect on homodimerization. V->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15269314,ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:20007835;Dbxref=dbSNP:rs1214
Q9UBX5	41	126	71	71	Natural variant	ID=VAR_019815;Note=In ARMD3%3B no effect on secretion%3B no effect on homodimerization. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15269314,ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:20007835;Dbxref=dbSNP:rs1214
Q9UBX5	41	126	87	87	Natural variant	ID=VAR_019816;Note=In ARMD3%3B no effect on secretion%3B slightly increases homodimerization in absence of Ca(2+). P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15269314,ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:2
Q9UBX5	41	126	90	90	Natural variant	ID=VAR_076290;Note=In HNARMD. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21576112;Dbxref=dbSNP:rs144288844,PMID:21576112
Q9UBX5	41	126	124	124	Natural variant	ID=VAR_072389;Note=In ARMD3%3B almost abolishes secretion%3B no effect on homodimerization. Q->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:20007835;Dbxref=PMID:16652333,PMID:20007835
Q9UBX5	41	126	126	126	Natural variant	ID=VAR_072390;Note=Polymorphism%3B no effect on secretion%3B slightly increases homodimerization in absence of Ca(2+). V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:20007835,ECO:0000269\|PubM
Q9UBX5	41	126	69	70	Sequence conflict	Note=IP->HS;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UBX5	126	167	24	448	Chain	ID=PRO_0000007577;Note=Fibulin-5
Q9UBX5	126	167	131	144	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	126	167	138	153	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	126	167	155	166	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	126	167	127	167	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	126	167	126	126	Natural variant	ID=VAR_072390;Note=Polymorphism%3B no effect on secretion%3B slightly increases homodimerization in absence of Ca(2+). V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16652333,ECO:0000269\|PubMed:20007835,ECO:0000269\|PubM
Q9UBX5	126	167	147	148	Sequence conflict	Note=TE->MK;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UBX5	167	206	24	448	Chain	ID=PRO_0000007577;Note=Fibulin-5
Q9UBX5	167	206	172	181	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	167	206	177	190	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	167	206	192	205	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	167	206	127	167	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	167	206	168	206	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9UBX5	167	206	169	169	Natural variant	ID=VAR_019817;Note=In ARMD3%3B decreases secretion%3B slightly increases homodimerization in absence of Ca(2+)%3B no effect on protein folding. I->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15269314,ECO:000
Q9UBX5	167	206	202	202	Natural variant	ID=VAR_072391;Note=Polymorphism%3B slightly increases homodimerization in absence of Ca(2+)%3B no effect on protein folding%3B no effect on secretion. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16652333,ECO:0000269\|

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SNVs in the skipped exons for FBLN5

- 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
BLCA	TCGA-4Z-AA7S-01	exon_skip_115151	92343831	92344026	92343870	92343870	Frame_Shift_Del	C	-	p.Q423fs
LIHC	TCGA-DD-A39Y-01	exon_skip_115151	92343831	92344026	92343887	92343887	Frame_Shift_Del	C	-	p.A418fs
LIHC	TCGA-DD-A39Y-01	exon_skip_115160	92361294	92361416	92361376	92361376	Frame_Shift_Del	G	-	p.P181fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_115167	92403291	92403545	92403459	92403459	Frame_Shift_Del	G	-	p.R112fs
SKCM	TCGA-EE-A3J5-06	exon_skip_115167	92403291	92403545	92403441	92403441	Nonsense_Mutation	G	A	p.R118*

- 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
HEC108_ENDOMETRIUM	92361294	92361416	92361375	92361376	Frame_Shift_Ins	-	G	p.T141fs
JHUEM7_ENDOMETRIUM	92343831	92344026	92343862	92343862	Missense_Mutation	G	T	p.S385Y
HEC6_ENDOMETRIUM	92343831	92344026	92344009	92344009	Missense_Mutation	G	A	p.A336V
T3M10_LUNG	92343831	92344026	92344015	92344015	Missense_Mutation	C	G	p.C334S
BICR18_UPPER_AERODIGESTIVE_TRACT	92357565	92357681	92357584	92357584	Missense_Mutation	C	G	p.E200D
SKMEL2_SKIN	92357565	92357681	92357624	92357624	Missense_Mutation	G	A	p.S187F
HCC1143_BREAST	92357565	92357681	92357639	92357639	Missense_Mutation	G	C	p.A182G
CORL23_LUNG	92361294	92361416	92361348	92361348	Missense_Mutation	C	T	p.G150R
451LU_SKIN	92361294	92361416	92361370	92361370	Missense_Mutation	C	A	p.Q142H
HCC2157_BREAST	92403291	92403545	92403311	92403311	Missense_Mutation	T	C	p.D120G
HCC2157_MATCHED_NORMAL_TISSUE	92403291	92403545	92403311	92403311	Missense_Mutation	T	C	p.D120G
NCIH2087_LUNG	92403291	92403545	92403357	92403357	Missense_Mutation	G	T	p.P105T
HS343T_FIBROBLAST	92403291	92403545	92403378	92403378	Missense_Mutation	G	A	p.P98S
IGROV1_OVARY	92403291	92403545	92403378	92403378	Missense_Mutation	G	A	p.P98S
IPC298_SKIN	92403291	92403545	92403398	92403398	Missense_Mutation	G	A	p.P91L
SNU620_STOMACH	92403291	92403545	92403461	92403461	Missense_Mutation	G	A	p.P70L
CORL32_LUNG	92403291	92403545	92403492	92403492	Missense_Mutation	C	G	p.V60L
SNU1040_LARGE_INTESTINE	92406909	92406960	92406950	92406950	Missense_Mutation	G	A	p.T28M
GP2D_LARGE_INTESTINE	92406909	92406960	92406951	92406951	Missense_Mutation	T	A	p.T28S
GP5D_LARGE_INTESTINE	92406909	92406960	92406951	92406951	Missense_Mutation	T	A	p.T28S
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	92403291	92403545	92403510	92403510	Nonsense_Mutation	G	A	p.R54*
BICR18_UPPER_AERODIGESTIVE_TRACT	92357565	92357681	92357680	92357680	Splice_Site	G	A	p.D168D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBLN5

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 FBLN5

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBLN5

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RelatedDrugs for FBLN5

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 FBLN5

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
FBLN5	C0268351	Cutis Laxa, Autosomal Recessive, Type I	7	CTD_human;UNIPROT
FBLN5	C4225406	NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION	6	ORPHANET;UNIPROT
FBLN5	C0013990	Pathological accumulation of air in tissues	1	CTD_human
FBLN5	C0018801	Heart failure	1	CTD_human
FBLN5	C0020542	Pulmonary Hypertension	1	CTD_human
FBLN5	C0033578	Prostatic Neoplasms	1	CTD_human
FBLN5	C0035222	Respiratory Distress Syndrome, Adult	1	CTD_human
FBLN5	C0035229	Respiratory Insufficiency	1	CTD_human
FBLN5	C0035243	Respiratory Tract Infections	1	CTD_human
FBLN5	C0042373	Vascular Diseases	1	CTD_human
FBLN5	C2931134	Cutis laxa, recessive	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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