ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SFTPB

Gene summary

Gene information	Gene symbol	SFTPB
	Gene ID	6439
	Gene name	surfactant protein B
	Synonyms	PSP-B\|SFTB3\|SFTP3\|SMDP1\|SP-B
	Cytomap	2p11.2
	Type of gene	protein-coding
	Description	pulmonary surfactant-associated protein B18 kDa pulmonary-surfactant protein6 kDa proteinpulmonary surfactant-associated proteolipid SPL(Phe)
	Modification date	20180523
	UniProtAcc	P07988
	Context	PubMed: SFTPB [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

Top

Exon skipping events across known transcript of Ensembl for SFTPB 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.

Top

Gene isoform structures and expression levels for SFTPB

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for SFTPB

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_340915	2	85885894:85885978:85888576:85888658:85889151:85889232	85888576:85888658	ENSG00000168878.12	ENST00000409383.1,ENST00000428225.1
exon_skip_341021	2	85886789:85886805:85888576:85888658:85889151:85889232	85888576:85888658	ENSG00000168878.12	ENST00000519937.2,ENST00000393822.3,ENST00000342375.3
exon_skip_341154	2	85888576:85888658:85889151:85889232:85890468:85890501	85889151:85889232	ENSG00000168878.12	ENST00000519937.2,ENST00000409383.1,ENST00000393822.3,ENST00000494165.1,ENST00000342375.3,ENST00000428225.1
exon_skip_341162	2	85889151:85889232:85890468:85890602:85890786:85890820	85890468:85890602	ENSG00000168878.12	ENST00000428225.1
exon_skip_341166	2	85889151:85889232:85890468:85890614:85890786:85890820	85890468:85890614	ENSG00000168878.12	ENST00000519937.2,ENST00000409383.1,ENST00000393822.3,ENST00000342375.3
exon_skip_341240	2	85890546:85890602:85890786:85890970:85892411:85892448	85890786:85890970	ENSG00000168878.12	ENST00000428225.1
exon_skip_341250	2	85890546:85890614:85890786:85890970:85892411:85892448	85890786:85890970	ENSG00000168878.12	ENST00000519937.2,ENST00000409383.1,ENST00000393822.3,ENST00000342375.3
exon_skip_341279	2	85890877:85890970:85892411:85892501:85892728:85892917	85892411:85892501	ENSG00000168878.12	ENST00000519937.2,ENST00000409383.1,ENST00000393822.3,ENST00000342375.3,ENST00000428225.1
exon_skip_341342	2	85892411:85892501:85892728:85892917:85893739:85893750	85892728:85892917	ENSG00000168878.12	ENST00000519937.2,ENST00000409383.1,ENST00000393822.3,ENST00000342375.3,ENST00000428225.1
exon_skip_341387	2	85892728:85892917:85893739:85893865:85894228:85894240	85893739:85893865	ENSG00000168878.12	ENST00000519937.2,ENST00000409383.1,ENST00000393822.3,ENST00000342375.3,ENST00000428225.1
exon_skip_341414	2	85893829:85893865:85894228:85894300:85894801:85894929	85894228:85894300	ENSG00000168878.12	ENST00000519937.2,ENST00000409383.1,ENST00000393822.3,ENST00000473692.1,ENST00000342375.3,ENST00000428225.1
exon_skip_341424	2	85894228:85894300:85894801:85894929:85895239:85895295	85894801:85894929	ENSG00000168878.12	ENST00000409383.1,ENST00000393822.3,ENST00000473692.1,ENST00000342375.3,ENST00000428225.1

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for SFTPB

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_340915	2	85885894:85885978:85888576:85888658:85889151:85889232	85888576:85888658	ENSG00000168878.12	ENST00000428225.1,ENST00000409383.1
exon_skip_341021	2	85886789:85886805:85888576:85888658:85889151:85889232	85888576:85888658	ENSG00000168878.12	ENST00000519937.2,ENST00000393822.3,ENST00000342375.3
exon_skip_341154	2	85888576:85888658:85889151:85889232:85890468:85890501	85889151:85889232	ENSG00000168878.12	ENST00000519937.2,ENST00000393822.3,ENST00000342375.3,ENST00000428225.1,ENST00000409383.1,ENST00000494165.1
exon_skip_341162	2	85889151:85889232:85890468:85890602:85890786:85890820	85890468:85890602	ENSG00000168878.12	ENST00000428225.1
exon_skip_341166	2	85889151:85889232:85890468:85890614:85890786:85890820	85890468:85890614	ENSG00000168878.12	ENST00000519937.2,ENST00000393822.3,ENST00000342375.3,ENST00000409383.1
exon_skip_341240	2	85890546:85890602:85890786:85890970:85892411:85892448	85890786:85890970	ENSG00000168878.12	ENST00000428225.1
exon_skip_341250	2	85890546:85890614:85890786:85890970:85892411:85892448	85890786:85890970	ENSG00000168878.12	ENST00000519937.2,ENST00000393822.3,ENST00000342375.3,ENST00000409383.1
exon_skip_341279	2	85890877:85890970:85892411:85892501:85892728:85892917	85892411:85892501	ENSG00000168878.12	ENST00000519937.2,ENST00000393822.3,ENST00000342375.3,ENST00000428225.1,ENST00000409383.1
exon_skip_341342	2	85892411:85892501:85892728:85892917:85893739:85893750	85892728:85892917	ENSG00000168878.12	ENST00000519937.2,ENST00000393822.3,ENST00000342375.3,ENST00000428225.1,ENST00000409383.1
exon_skip_341387	2	85892728:85892917:85893739:85893865:85894228:85894240	85893739:85893865	ENSG00000168878.12	ENST00000519937.2,ENST00000393822.3,ENST00000342375.3,ENST00000428225.1,ENST00000409383.1
exon_skip_341414	2	85893829:85893865:85894228:85894300:85894801:85894929	85894228:85894300	ENSG00000168878.12	ENST00000519937.2,ENST00000393822.3,ENST00000342375.3,ENST00000428225.1,ENST00000409383.1,ENST00000473692.1
exon_skip_341424	2	85894228:85894300:85894801:85894929:85895239:85895295	85894801:85894929	ENSG00000168878.12	ENST00000393822.3,ENST00000342375.3,ENST00000428225.1,ENST00000409383.1,ENST00000473692.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

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

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
ENST00000393822	85888576	85888658	5CDS-5UTR
ENST00000519937	85888576	85888658	5CDS-5UTR
ENST00000393822	85890468	85890614	Frame-shift
ENST00000519937	85890468	85890614	Frame-shift
ENST00000393822	85890786	85890970	Frame-shift
ENST00000519937	85890786	85890970	Frame-shift
ENST00000393822	85894801	85894929	Frame-shift
ENST00000393822	85889151	85889232	In-frame
ENST00000519937	85889151	85889232	In-frame
ENST00000393822	85892411	85892501	In-frame
ENST00000519937	85892411	85892501	In-frame
ENST00000393822	85892728	85892917	In-frame
ENST00000519937	85892728	85892917	In-frame
ENST00000393822	85893739	85893865	In-frame
ENST00000519937	85893739	85893865	In-frame
ENST00000393822	85894228	85894300	In-frame
ENST00000519937	85894228	85894300	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
ENST00000393822	85888576	85888658	5CDS-5UTR
ENST00000519937	85888576	85888658	5CDS-5UTR
ENST00000393822	85890468	85890614	Frame-shift
ENST00000519937	85890468	85890614	Frame-shift
ENST00000393822	85890786	85890970	Frame-shift
ENST00000519937	85890786	85890970	Frame-shift
ENST00000393822	85894801	85894929	Frame-shift
ENST00000393822	85889151	85889232	In-frame
ENST00000519937	85889151	85889232	In-frame
ENST00000393822	85892411	85892501	In-frame
ENST00000519937	85892411	85892501	In-frame
ENST00000393822	85892728	85892917	In-frame
ENST00000519937	85892728	85892917	In-frame
ENST00000393822	85893739	85893865	In-frame
ENST00000519937	85893739	85893865	In-frame
ENST00000393822	85894228	85894300	In-frame
ENST00000519937	85894228	85894300	In-frame

Top

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

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
ENST00000519937	3571	381	85894228	85894300	216	287	65	89
ENST00000393822	3681	381	85894228	85894300	332	403	77	101
ENST00000519937	3571	381	85893739	85893865	288	413	89	131
ENST00000393822	3681	381	85893739	85893865	404	529	101	143
ENST00000519937	3571	381	85892728	85892917	414	602	131	194
ENST00000393822	3681	381	85892728	85892917	530	718	143	206
ENST00000519937	3571	381	85892411	85892501	603	692	194	224
ENST00000393822	3681	381	85892411	85892501	719	808	206	236
ENST00000519937	3571	381	85889151	85889232	1023	1103	334	361
ENST00000393822	3681	381	85889151	85889232	1139	1219	346	373

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
ENST00000519937	3571	381	85894228	85894300	216	287	65	89
ENST00000393822	3681	381	85894228	85894300	332	403	77	101
ENST00000519937	3571	381	85893739	85893865	288	413	89	131
ENST00000393822	3681	381	85893739	85893865	404	529	101	143
ENST00000519937	3571	381	85892728	85892917	414	602	131	194
ENST00000393822	3681	381	85892728	85892917	530	718	143	206
ENST00000519937	3571	381	85892411	85892501	603	692	194	224
ENST00000393822	3681	381	85892411	85892501	719	808	206	236
ENST00000519937	3571	381	85889151	85889232	1023	1103	334	361
ENST00000393822	3681	381	85889151	85889232	1139	1219	346	373

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
P07988	65	89	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	65	89	72	137	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	65	89	25	65	Domain	Note=Saposin A-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00414
P07988	65	89	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	65	89	25	200	Propeptide	ID=PRO_0000031647
P07988	77	101	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	77	101	72	137	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	77	101	100	112	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	77	101	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	77	101	25	200	Propeptide	ID=PRO_0000031647
P07988	89	131	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	89	131	72	137	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	89	131	100	112	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	89	131	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	89	131	129	129	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	89	131	131	131	Natural variant	ID=VAR_006948;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11076040,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs1130866,PMID:11076040
P07988	89	131	25	200	Propeptide	ID=PRO_0000031647
P07988	101	143	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	101	143	72	137	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	101	143	100	112	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	101	143	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	101	143	129	129	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	101	143	131	131	Natural variant	ID=VAR_006948;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11076040,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs1130866,PMID:11076040
P07988	101	143	25	200	Propeptide	ID=PRO_0000031647
P07988	131	194	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	131	194	72	137	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	131	194	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	131	194	131	131	Natural variant	ID=VAR_006948;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11076040,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs1130866,PMID:11076040
P07988	131	194	176	176	Natural variant	ID=VAR_013099;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.3;Dbxref=dbSNP:rs3024801
P07988	131	194	25	200	Propeptide	ID=PRO_0000031647
P07988	131	194	178	178	Sequence conflict	Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07988	143	206	201	279	Chain	ID=PRO_0000031648;Note=Pulmonary surfactant-associated protein B
P07988	143	206	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	143	206	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	143	206	204	281	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	143	206	176	176	Natural variant	ID=VAR_013099;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.3;Dbxref=dbSNP:rs3024801
P07988	143	206	25	200	Propeptide	ID=PRO_0000031647
P07988	143	206	178	178	Sequence conflict	Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07988	194	224	201	279	Chain	ID=PRO_0000031648;Note=Pulmonary surfactant-associated protein B
P07988	194	224	208	277	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	194	224	211	271	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	194	224	204	281	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	194	224	213	221	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KMR
P07988	194	224	25	200	Propeptide	ID=PRO_0000031647
P07988	206	236	201	279	Chain	ID=PRO_0000031648;Note=Pulmonary surfactant-associated protein B
P07988	206	236	208	277	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	206	236	211	271	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	206	236	235	246	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	206	236	204	281	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	206	236	213	221	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KMR
P07988	206	236	228	228	Natural variant	ID=VAR_006950;Note=Requires 2 nucleotide substitutions. A->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	206	236	228	228	Natural variant	ID=VAR_006949;Note=Requires 2 nucleotide substitutions. A->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2924687,ECO:0000269\|PubMed:3035561;Dbxref=PMID:2924687,PMID:3035561
P07988	206	236	236	236	Natural variant	ID=VAR_036856;Note=In SMDP1. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7491219;Dbxref=dbSNP:rs137853202,PMID:7491219
P07988	334	361	299	366	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	334	361	302	360	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	334	361	325	335	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	334	361	295	370	Domain	Note=Saposin B-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	334	361	280	381	Propeptide	ID=PRO_0000031649
P07988	346	373	299	366	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	346	373	302	360	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	346	373	295	370	Domain	Note=Saposin B-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	346	373	280	381	Propeptide	ID=PRO_0000031649

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
P07988	65	89	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	65	89	72	137	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	65	89	25	65	Domain	Note=Saposin A-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00414
P07988	65	89	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	65	89	25	200	Propeptide	ID=PRO_0000031647
P07988	77	101	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	77	101	72	137	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	77	101	100	112	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	77	101	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	77	101	25	200	Propeptide	ID=PRO_0000031647
P07988	89	131	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	89	131	72	137	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	89	131	100	112	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	89	131	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	89	131	129	129	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	89	131	131	131	Natural variant	ID=VAR_006948;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11076040,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs1130866,PMID:11076040
P07988	89	131	25	200	Propeptide	ID=PRO_0000031647
P07988	101	143	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	101	143	72	137	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	101	143	100	112	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	101	143	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	101	143	129	129	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	101	143	131	131	Natural variant	ID=VAR_006948;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11076040,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs1130866,PMID:11076040
P07988	101	143	25	200	Propeptide	ID=PRO_0000031647
P07988	131	194	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	131	194	72	137	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	131	194	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	131	194	131	131	Natural variant	ID=VAR_006948;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11076040,ECO:0000269\|Ref.3;Dbxref=dbSNP:rs1130866,PMID:11076040
P07988	131	194	176	176	Natural variant	ID=VAR_013099;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.3;Dbxref=dbSNP:rs3024801
P07988	131	194	25	200	Propeptide	ID=PRO_0000031647
P07988	131	194	178	178	Sequence conflict	Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07988	143	206	201	279	Chain	ID=PRO_0000031648;Note=Pulmonary surfactant-associated protein B
P07988	143	206	69	143	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	143	206	65	147	Domain	Note=Saposin B-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	143	206	204	281	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	143	206	176	176	Natural variant	ID=VAR_013099;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.3;Dbxref=dbSNP:rs3024801
P07988	143	206	25	200	Propeptide	ID=PRO_0000031647
P07988	143	206	178	178	Sequence conflict	Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07988	194	224	201	279	Chain	ID=PRO_0000031648;Note=Pulmonary surfactant-associated protein B
P07988	194	224	208	277	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	194	224	211	271	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	194	224	204	281	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	194	224	213	221	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KMR
P07988	194	224	25	200	Propeptide	ID=PRO_0000031647
P07988	206	236	201	279	Chain	ID=PRO_0000031648;Note=Pulmonary surfactant-associated protein B
P07988	206	236	208	277	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	206	236	211	271	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	206	236	235	246	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	206	236	204	281	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	206	236	213	221	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1KMR
P07988	206	236	228	228	Natural variant	ID=VAR_006950;Note=Requires 2 nucleotide substitutions. A->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1568474;Dbxref=PMID:1568474
P07988	206	236	228	228	Natural variant	ID=VAR_006949;Note=Requires 2 nucleotide substitutions. A->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2924687,ECO:0000269\|PubMed:3035561;Dbxref=PMID:2924687,PMID:3035561
P07988	206	236	236	236	Natural variant	ID=VAR_036856;Note=In SMDP1. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7491219;Dbxref=dbSNP:rs137853202,PMID:7491219
P07988	334	361	299	366	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	334	361	302	360	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	334	361	325	335	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	334	361	295	370	Domain	Note=Saposin B-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	334	361	280	381	Propeptide	ID=PRO_0000031649
P07988	346	373	299	366	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	346	373	302	360	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	346	373	295	370	Domain	Note=Saposin B-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07988	346	373	280	381	Propeptide	ID=PRO_0000031649

Top

SNVs in the skipped exons for SFTPB

- 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_341021 exon_skip_340915	85888577	85888658	85888649	85888649	Frame_Shift_Del	C	-	p.V377fs
LUAD	TCGA-MN-A4N1-01	exon_skip_341162	85890469	85890602	85890580	85890581	Frame_Shift_Del	AG	-	p.S309fs
LUAD	TCGA-MN-A4N1-01	exon_skip_341166	85890469	85890614	85890580	85890581	Frame_Shift_Del	AG	-	p.S309fs
LIHC	TCGA-DD-A3A0-01	exon_skip_341279	85892412	85892501	85892415	85892415	Frame_Shift_Del	G	-	p.P223fs
MESO	TCGA-UD-AAC5-01	exon_skip_341342	85892729	85892917	85892782	85892782	Frame_Shift_Del	C	-	p.V177fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_341424	85894802	85894929	85894893	85894893	Frame_Shift_Del	C	-	p.G47fs
LUAD	TCGA-55-8207-01	exon_skip_341387	85893740	85893865	85893768	85893769	Frame_Shift_Ins	-	G	p.G134fs
STAD	TCGA-BR-4256-01	exon_skip_341162	85890469	85890602	85890528	85890528	Nonsense_Mutation	G	A	p.Q315*
STAD	TCGA-BR-4256-01	exon_skip_341166	85890469	85890614	85890528	85890528	Nonsense_Mutation	G	A	p.Q315*
LUAD	TCGA-38-4631-01	exon_skip_341424	85894802	85894929	85894864	85894864	Nonsense_Mutation	G	A	p.Q45*
LUAD	TCGA-38-4631-01	exon_skip_341424	85894802	85894929	85894864	85894864	Nonsense_Mutation	G	A	p.Q57*
BLCA	TCGA-DK-A3IL-01	exon_skip_341424	85894802	85894929	85894867	85894867	Nonsense_Mutation	C	A	p.E44*
COAD	TCGA-CK-5913-01	exon_skip_341279	85892412	85892501	85892503	85892504	Splice_Site	-	G	.
LUAD	TCGA-86-6851-01	exon_skip_341387	85893740	85893865	85893739	85893739	Splice_Site	C	A	p.T131_splice
SKCM	TCGA-D3-A3ML-06	exon_skip_341414	85894229	85894300	85894227	85894227	Splice_Site	A	G	.

- 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
NCIH2286_LUNG	85893740	85893865	85893751	85893751	Frame_Shift_Del	G	-	p.Q128fs
HEC265_ENDOMETRIUM	85893740	85893865	85893769	85893769	Frame_Shift_Del	G	-	p.L122fs
NCIH2009_LUNG	85894229	85894300	85894270	85894271	In_Frame_Ins	-	GAT	p.75_76insI
ES2_OVARY	85889152	85889232	85889178	85889178	Missense_Mutation	C	T	p.G353S
RL952_ENDOMETRIUM	85890469	85890602	85890476	85890476	Missense_Mutation	C	T	p.R332K
RL952_ENDOMETRIUM	85890469	85890614	85890476	85890476	Missense_Mutation	C	T	p.R332K
EN_ENDOMETRIUM	85890469	85890602	85890494	85890494	Missense_Mutation	A	G	p.V326A
EN_ENDOMETRIUM	85890469	85890614	85890494	85890494	Missense_Mutation	A	G	p.V326A
HT115_LARGE_INTESTINE	85890469	85890602	85890521	85890521	Missense_Mutation	A	G	p.I317T
HT115_LARGE_INTESTINE	85890469	85890614	85890521	85890521	Missense_Mutation	A	G	p.I317T
HCT15_LARGE_INTESTINE	85890469	85890602	85890575	85890575	Missense_Mutation	C	A	p.C299F
HCT15_LARGE_INTESTINE	85890469	85890614	85890575	85890575	Missense_Mutation	C	A	p.C299F
NCIH1339_LUNG	85890469	85890602	85890581	85890581	Missense_Mutation	G	T	p.S297Y
NCIH1339_LUNG	85890469	85890614	85890581	85890581	Missense_Mutation	G	T	p.S297Y
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	85890469	85890614	85890611	85890611	Missense_Mutation	G	A	p.S287L
HEC59_ENDOMETRIUM	85890787	85890970	85890823	85890823	Missense_Mutation	C	T	p.V274I
EFO27_OVARY	85890787	85890970	85890823	85890823	Missense_Mutation	C	T	p.V274I
GSS_STOMACH	85890787	85890970	85890853	85890853	Missense_Mutation	G	A	p.R264C
SISO_CERVIX	85890787	85890970	85890864	85890864	Missense_Mutation	G	A	p.T260M
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	85890787	85890970	85890864	85890864	Missense_Mutation	G	A	p.T260M
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	85890787	85890970	85890888	85890888	Missense_Mutation	C	T	p.R252H
TT2609C02_THYROID	85890787	85890970	85890936	85890936	Missense_Mutation	C	A	p.R236L
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	85892729	85892917	85892743	85892743	Missense_Mutation	C	T	p.G190R
EWS502_BONE	85892729	85892917	85892761	85892761	Missense_Mutation	C	G	p.A184P
D542MG_CENTRAL_NERVOUS_SYSTEM	85892729	85892917	85892779	85892779	Missense_Mutation	G	A	p.L178F
HT29_LARGE_INTESTINE	85892729	85892917	85892796	85892796	Missense_Mutation	A	C	p.L172R
NCIH810_LUNG	85892729	85892917	85892865	85892865	Missense_Mutation	T	A	p.E149V
SARC9371_BONE	85893740	85893865	85893772	85893772	Missense_Mutation	G	A	p.P121S
SNU503_LARGE_INTESTINE	85893740	85893865	85893775	85893775	Missense_Mutation	A	T	p.F120I
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	85893740	85893865	85893808	85893808	Missense_Mutation	T	C	p.M109V
CW2_LARGE_INTESTINE	85893740	85893865	85893829	85893829	Missense_Mutation	C	T	p.V102I
ISTSL2_LUNG	85893740	85893865	85893858	85893858	Missense_Mutation	A	G	p.M92T
JHH6_LIVER	85894229	85894300	85894254	85894254	Missense_Mutation	T	C	p.K81R
CHL1_SKIN	85894802	85894929	85894840	85894840	Missense_Mutation	C	T	p.G53R
TUHR4TKB_KIDNEY	85894802	85894929	85894905	85894905	Missense_Mutation	G	A	p.A31V
KYM1_SOFT_TISSUE	85894802	85894929	85894905	85894905	Missense_Mutation	G	A	p.A31V
TGW_AUTONOMIC_GANGLIA	85894802	85894929	85894905	85894905	Missense_Mutation	G	A	p.A31V
TE12_OESOPHAGUS	85888577	85888658	85888597	85888597	Nonstop_Mutation	C	G	p.*382S
LS411N_LARGE_INTESTINE	85890469	85890602	85890470	85890470	Splice_Site	T	C	p.K334R
LS411N_LARGE_INTESTINE	85890469	85890614	85890470	85890470	Splice_Site	T	C	p.K334R
NCIH69_LUNG	85892729	85892917	85892729	85892729	Splice_Site	C	T	p.Q194Q

Top

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

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

Top

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

Top

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

Top

RelatedDrugs for SFTPB

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

Top

RelatedDiseases for SFTPB

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SFTPB	C0019284	Diaphragmatic Hernia	2	CTD_human
SFTPB	C0024115	Lung diseases	1	CTD_human
SFTPB	C0024121	Lung Neoplasms	1	CTD_human
SFTPB	C1968602	Surfactant Metabolism Dysfunction, Pulmonary, 1	1	CTD_human;ORPHANET;UNIPROT

	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

Home

Download

Statistics

Landscape

Help

Contact