ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PSAP

Gene summary

Gene information	Gene symbol	PSAP
	Gene ID	5660
	Gene name	prosaposin
	Synonyms	GLBA\|SAP1\|SAP2
	Cytomap	10q22.1
	Type of gene	protein-coding
	Description	prosaposinproactivator polypeptidesaposin-Asaposin-Bsaposin-Csaposin-Dsphingolipid activator protein-1sphingolipid activator protein-2
	Modification date	20200313
	UniProtAcc	A0A024QZQ2, A0A0J9YXB8, C9JIZ6, L8EA14, P07602, Q5BJH1, Q8IWL2,
	Context	- 31864418(Characterization of lysosomal proteins Progranulin and Prosaposin and their interactions in Alzheimer's disease and aged brains: increased levels correlate with neuropathology)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
PSAP	GO:0007041	lysosomal transport	26370502
PSAP	GO:1905572	ganglioside GM1 transport to membrane	1454804

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Gene structures and expression levels for PSAP

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000197746

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
PG	UP	ENST00000610929.3	PSAP-205:protein_coding:PSAP	4.324137e+01	5.517832e+00	8.033579e-07	7.480373e-05
CB	DOWN	ENST00000610929.3	PSAP-205:protein_coding:PSAP	6.749608e+03	-1.121644e+00	2.972605e-05	2.646031e-04
CB	UP	ENST00000394934.4	PSAP-201:protein_coding:PSAP	8.901718e+03	9.329324e-01	5.976176e-04	3.353015e-03

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PSAP

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_103143	chr10	71821876:71822007:71823888:71823896:71825837:71825887	71823888:71823896
exon_skip_106424	chr10	71816299:71817476:71818617:71818724:71819031:71819111	71818617:71818724
exon_skip_139779	chr10	71818622:71818724:71819031:71819111:71819465:71819602	71819031:71819111
exon_skip_1878	chr10	71825837:71825893:71828014:71828157:71828877:71829077	71828014:71828157
exon_skip_210727	chr10	71820240:71820335:71821876:71822016:71825837:71825893	71821876:71822016
exon_skip_229207	chr10	71825837:71825893:71828014:71828157:71828877:71828994	71828014:71828157
exon_skip_243331	chr10	71820240:71820335:71821876:71822007:71825837:71825893	71821876:71822007
exon_skip_2492	chr10	71818622:71818724:71819031:71819111:71819465:71819622	71819031:71819111
exon_skip_287620	chr10	71818622:71818724:71819031:71819111:71819465:71819608	71819031:71819111
exon_skip_292095	chr10	71821938:71822007:71823888:71823896:71825837:71825893	71823888:71823896
exon_skip_33836	chr10	71819031:71819111:71819465:71819622:71819714:71819783	71819465:71819622
exon_skip_38852	chr10	71821876:71822007:71825837:71825893:71828014:71828134	71825837:71825893
exon_skip_55277	chr10	71818699:71818724:71819031:71819111:71819465:71819622	71819031:71819111

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000394936	71818617	71818724	In-frame
ENST00000394936	71819031	71819111	In-frame
ENST00000394936	71821876	71822007	In-frame
ENST00000394936	71825837	71825893	In-frame
ENST00000394936	71828014	71828157	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000394936	71819031	71819111	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000394936	71819465	71819622	Frame-shift
ENST00000394936	71819031	71819111	In-frame
ENST00000394936	71821876	71822007	In-frame
ENST00000394936	71825837	71825893	In-frame
ENST00000394936	71828014	71828157	In-frame

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

p-ENSG00000197746_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000394936	2889	524	71828014	71828157	731	873	192	239
ENST00000394936	2889	524	71825837	71825893	875	930	240	258
ENST00000394936	2889	524	71821876	71822007	932	1062	259	302
ENST00000394936	2889	524	71819031	71819111	1505	1584	450	476
ENST00000394936	2889	524	71818617	71818724	1586	1692	477	512

Loci of skipped exons in MSBB 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
ENST00000394936	2889	524	71819031	71819111	1505	1584	450	476

Loci of skipped exons in Mayo 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
ENST00000394936	2889	524	71828014	71828157	731	873	192	239
ENST00000394936	2889	524	71825837	71825893	875	930	240	258
ENST00000394936	2889	524	71821876	71822007	932	1062	259	302
ENST00000394936	2889	524	71819031	71819111	1505	1584	450	476

Lost protein functional features of individual exon skipping events in ROSMAP.

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
P07602	192	239	17	524	Chain	ID=PRO_0000424774;Note=Prosaposin;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8323276;Dbxref=PMID:8323276
P07602	192	239	195	274	Chain	ID=PRO_0000031619;Note=Saposin-B-Val;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2209618,ECO:0000269\|PubMed:3242555;Dbxref=PMID:2209618,PMID:3242555
P07602	192	239	195	273	Chain	ID=PRO_0000031620;Note=Saposin-B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2209618;Dbxref=PMID:2209618
P07602	192	239	198	271	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	192	239	201	265	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	192	239	230	241	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:7730378;Dbxref=PMID:7730378
P07602	192	239	194	275	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07602	192	239	215	215	Glycosylation	ID=CAR_000176;Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:11180632,ECO:0000269\|PubMed:19167329;Dbxref=PMID:11180632,PMID:19167329
P07602	192	239	196	214	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	192	239	218	229	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	192	239	230	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	192	239	237	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	192	239	215	215	Natural variant	ID=VAR_031823;Note=In MLD-SAPB%3B reduces the intracellular activity of the protein significantly. N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10682309;Dbxref=dbSNP:rs121918107,PMID:10682309
P07602	192	239	215	215	Natural variant	ID=VAR_031899;Note=In MLD-SAPB. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10196694;Dbxref=dbSNP:rs770171865,PMID:10196694
P07602	192	239	217	217	Natural variant	ID=VAR_006943;Note=In MLD-SAPB%3B juvenile%3B affects glycosylation at N-215. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2302219,ECO:0000269\|PubMed:2320574;Dbxref=dbSNP:rs121918103,PMID:2302219,PMID:2320574
P07602	192	239	143	194	Propeptide	ID=PRO_0000031618;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07602	192	239	215	215	Site	Note=Not glycosylated%3B in variant MLD-SAPB Ile-217
P07602	240	258	17	524	Chain	ID=PRO_0000424774;Note=Prosaposin;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8323276;Dbxref=PMID:8323276
P07602	240	258	195	274	Chain	ID=PRO_0000031619;Note=Saposin-B-Val;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2209618,ECO:0000269\|PubMed:3242555;Dbxref=PMID:2209618,PMID:3242555
P07602	240	258	195	273	Chain	ID=PRO_0000031620;Note=Saposin-B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2209618;Dbxref=PMID:2209618
P07602	240	258	198	271	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	240	258	201	265	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	240	258	230	241	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:7730378;Dbxref=PMID:7730378
P07602	240	258	194	275	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07602	240	258	237	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	240	258	240	240	Mutagenesis	Note=Strongly decreases stimulation of cerebroside sulfate hydrolysis. I->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12518053;Dbxref=PMID:12518053
P07602	240	258	241	241	Natural variant	ID=VAR_006944;Note=In MLD-SAPB%3B severe. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2019586;Dbxref=dbSNP:rs121918104,PMID:2019586
P07602	259	302	259	259	Alternative sequence	ID=VSP_006014;Note=In isoform Sap-mu-6. M->MDQ;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07602	259	302	260	260	Alternative sequence	ID=VSP_006015;Note=In isoform Sap-mu-9. Q->QDQQ;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07602	259	302	17	524	Chain	ID=PRO_0000424774;Note=Prosaposin;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8323276;Dbxref=PMID:8323276
P07602	259	302	195	274	Chain	ID=PRO_0000031619;Note=Saposin-B-Val;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2209618,ECO:0000269\|PubMed:3242555;Dbxref=PMID:2209618,PMID:3242555
P07602	259	302	195	273	Chain	ID=PRO_0000031620;Note=Saposin-B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2209618;Dbxref=PMID:2209618
P07602	259	302	198	271	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	259	302	201	265	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	259	302	194	275	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07602	259	302	261	267	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	259	302	275	310	Propeptide	ID=PRO_0000031621;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07602	450	476	17	524	Chain	ID=PRO_0000424774;Note=Prosaposin;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8323276;Dbxref=PMID:8323276
P07602	450	476	405	486	Chain	ID=PRO_0000031624;Note=Saposin-D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2845979;Dbxref=PMID:2845979
P07602	450	476	409	482	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10406958;Dbxref=PMID:10406958
P07602	450	476	412	476	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10406958;Dbxref=PMID:10406958
P07602	450	476	440	451	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10406958;Dbxref=PMID:10406958
P07602	450	476	405	486	Domain	Note=Saposin B-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07602	450	476	448	466	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BQP
P07602	450	476	472	478	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BQP
P07602	477	512	17	524	Chain	ID=PRO_0000424774;Note=Prosaposin;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8323276;Dbxref=PMID:8323276
P07602	477	512	405	486	Chain	ID=PRO_0000031624;Note=Saposin-D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2845979;Dbxref=PMID:2845979
P07602	477	512	409	482	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10406958;Dbxref=PMID:10406958
P07602	477	512	405	486	Domain	Note=Saposin B-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07602	477	512	488	524	Domain	Note=Saposin A-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00414
P07602	477	512	472	478	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BQP
P07602	477	512	487	524	Propeptide	ID=PRO_0000031625;Ontology_term=ECO:0000305;evidence=ECO:0000305

Lost protein functional features of individual exon skipping events in MSBB.

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
P07602	450	476	17	524	Chain	ID=PRO_0000424774;Note=Prosaposin;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8323276;Dbxref=PMID:8323276
P07602	450	476	405	486	Chain	ID=PRO_0000031624;Note=Saposin-D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2845979;Dbxref=PMID:2845979
P07602	450	476	409	482	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10406958;Dbxref=PMID:10406958
P07602	450	476	412	476	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10406958;Dbxref=PMID:10406958
P07602	450	476	440	451	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10406958;Dbxref=PMID:10406958
P07602	450	476	405	486	Domain	Note=Saposin B-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07602	450	476	448	466	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BQP
P07602	450	476	472	478	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BQP

Lost protein functional features of individual exon skipping events in Mayo.

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
P07602	192	239	17	524	Chain	ID=PRO_0000424774;Note=Prosaposin;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8323276;Dbxref=PMID:8323276
P07602	192	239	195	274	Chain	ID=PRO_0000031619;Note=Saposin-B-Val;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2209618,ECO:0000269\|PubMed:3242555;Dbxref=PMID:2209618,PMID:3242555
P07602	192	239	195	273	Chain	ID=PRO_0000031620;Note=Saposin-B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2209618;Dbxref=PMID:2209618
P07602	192	239	198	271	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	192	239	201	265	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	192	239	230	241	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:7730378;Dbxref=PMID:7730378
P07602	192	239	194	275	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07602	192	239	215	215	Glycosylation	ID=CAR_000176;Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:11180632,ECO:0000269\|PubMed:19167329;Dbxref=PMID:11180632,PMID:19167329
P07602	192	239	196	214	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	192	239	218	229	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	192	239	230	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	192	239	237	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	192	239	215	215	Natural variant	ID=VAR_031823;Note=In MLD-SAPB%3B reduces the intracellular activity of the protein significantly. N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10682309;Dbxref=dbSNP:rs121918107,PMID:10682309
P07602	192	239	215	215	Natural variant	ID=VAR_031899;Note=In MLD-SAPB. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10196694;Dbxref=dbSNP:rs770171865,PMID:10196694
P07602	192	239	217	217	Natural variant	ID=VAR_006943;Note=In MLD-SAPB%3B juvenile%3B affects glycosylation at N-215. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2302219,ECO:0000269\|PubMed:2320574;Dbxref=dbSNP:rs121918103,PMID:2302219,PMID:2320574
P07602	192	239	143	194	Propeptide	ID=PRO_0000031618;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07602	192	239	215	215	Site	Note=Not glycosylated%3B in variant MLD-SAPB Ile-217
P07602	240	258	17	524	Chain	ID=PRO_0000424774;Note=Prosaposin;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8323276;Dbxref=PMID:8323276
P07602	240	258	195	274	Chain	ID=PRO_0000031619;Note=Saposin-B-Val;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2209618,ECO:0000269\|PubMed:3242555;Dbxref=PMID:2209618,PMID:3242555
P07602	240	258	195	273	Chain	ID=PRO_0000031620;Note=Saposin-B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2209618;Dbxref=PMID:2209618
P07602	240	258	198	271	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	240	258	201	265	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	240	258	230	241	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415,ECO:0000269\|PubMed:7730378;Dbxref=PMID:7730378
P07602	240	258	194	275	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07602	240	258	237	257	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	240	258	240	240	Mutagenesis	Note=Strongly decreases stimulation of cerebroside sulfate hydrolysis. I->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12518053;Dbxref=PMID:12518053
P07602	240	258	241	241	Natural variant	ID=VAR_006944;Note=In MLD-SAPB%3B severe. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2019586;Dbxref=dbSNP:rs121918104,PMID:2019586
P07602	259	302	259	259	Alternative sequence	ID=VSP_006014;Note=In isoform Sap-mu-6. M->MDQ;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07602	259	302	260	260	Alternative sequence	ID=VSP_006015;Note=In isoform Sap-mu-9. Q->QDQQ;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07602	259	302	17	524	Chain	ID=PRO_0000424774;Note=Prosaposin;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8323276;Dbxref=PMID:8323276
P07602	259	302	195	274	Chain	ID=PRO_0000031619;Note=Saposin-B-Val;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2209618,ECO:0000269\|PubMed:3242555;Dbxref=PMID:2209618,PMID:3242555
P07602	259	302	195	273	Chain	ID=PRO_0000031620;Note=Saposin-B;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2209618;Dbxref=PMID:2209618
P07602	259	302	198	271	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	259	302	201	265	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12510003;Dbxref=PMID:12510003
P07602	259	302	194	275	Domain	Note=Saposin B-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07602	259	302	261	267	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4V2O
P07602	259	302	275	310	Propeptide	ID=PRO_0000031621;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07602	450	476	17	524	Chain	ID=PRO_0000424774;Note=Prosaposin;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8323276;Dbxref=PMID:8323276
P07602	450	476	405	486	Chain	ID=PRO_0000031624;Note=Saposin-D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2845979;Dbxref=PMID:2845979
P07602	450	476	409	482	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10406958;Dbxref=PMID:10406958
P07602	450	476	412	476	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10406958;Dbxref=PMID:10406958
P07602	450	476	440	451	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10406958;Dbxref=PMID:10406958
P07602	450	476	405	486	Domain	Note=Saposin B-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00415
P07602	450	476	448	466	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BQP
P07602	450	476	472	478	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BQP

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3'-UTR located exon skipping events that lost miRNA binding sites in PSAP

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for PSAP

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for PSAP

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info	Cohort	Tissue	SE id	Coefficient	P-value	Chromosome	Strand	E1 start	E1 end	Skipped start	Skipped end	E2 start	E2 end
ADstage	MSBB	PG	exon_skip_292095	-4.403516e-01	2.520000e-11	chr10	-	71821938	71822007	71823888	71823896	71825837	71825893
ADstage	MSBB	STG	exon_skip_103143	-3.231045e-01	1.583390e-03	chr10	-	71821876	71822007	71823888	71823896	71825837	71825887
CDR	MSBB	PG	exon_skip_292095	-4.564037e-01	3.780000e-12	chr10	-	71821938	71822007	71823888	71823896	71825837	71825893
CDR	MSBB	STG	exon_skip_103143	-3.588450e-01	4.121450e-04	chr10	-	71821876	71822007	71823888	71823896	71825837	71825887
CDR	MSBB	STG	exon_skip_117492	-3.114548e-01	2.374394e-03	chr10	-	71821876	71822007	71823888	71823893	71825837	71825893

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

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for PSAP

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	SRSF9	exon_skip_184720	4.972261e-01	3.017267e-11
CB	SRSF9	exon_skip_103143	4.579104e-01	1.288886e-09
DLPFC	SRSF9	exon_skip_117492	6.090508e-01	7.380566e-26
FL	SRSF9	exon_skip_117492	4.018222e-01	4.423520e-09
STG	SRSF9	exon_skip_117492	4.045230e-01	5.779837e-05
STG	SRSF9	exon_skip_103143	4.184867e-01	2.987356e-05

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RelatedDrugs for PSAP

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for PSAP

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for PSAP

Gene structures and expression levels for PSAP

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PSAP

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

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

3'-UTR located exon skipping events that lost miRNA binding sites in PSAP

SNVs in the skipped exons for PSAP

AD stage-associated exon skippint events for PSAP

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

Correlation with RNA binding proteins (RBPs) for PSAP

RelatedDrugs for PSAP

RelatedDiseases for PSAP