ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for SPARCL1

Gene summary

Gene information	Gene symbol	SPARCL1
	Gene ID	8404
	Gene name	SPARC like 1
	Synonyms	MAST 9\|MAST9\|PIG33\|SC1
	Cytomap	4q22.1
	Type of gene	protein-coding
	Description	SPARC-like protein 1SPARC-like 1 (hevin)high endothelial venule proteinproliferation-inducing protein 33
	Modification date	20200313
	UniProtAcc	C9JJR8, D6RA29, E7EU82, E9PC64, F5H1Y9, F5H331, F5H4Y3, Q14515, Q8N4S1,
	Context

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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Gene structures and expression levels for SPARCL1

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.

ENSG00000152583

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
HCC	DOWN	ENST00000458304.2	SPARCL1-204:protein_coding:SPARCL1	3.348471e+00	-8.134955e-01	1.605287e-04	9.921923e-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 SPARCL1

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_108220	chr4	87479430:87479578:87480372:87480520:87482424:87482470	87480372:87480520
exon_skip_126239	chr4	87495013:87495127:87497131:87497239:87499521:87499585	87497131:87497239
exon_skip_140430	chr4	87499521:87499585:87529045:87529101:87530978:87531049	87529045:87529101
exon_skip_142053	chr4	87479430:87479578:87480372:87480520:87482424:87482437	87480372:87480520
exon_skip_14715	chr4	87494981:87495143:87499521:87499585:87529045:87529058	87499521:87499585
exon_skip_162337	chr4	87495013:87495127:87499521:87499585:87529045:87529092	87499521:87499585
exon_skip_164485	chr4	87482425:87482560:87490273:87490393:87490760:87490878	87490273:87490393
exon_skip_174978	chr4	87479430:87479578:87480372:87480520:87482424:87482533	87480372:87480520
exon_skip_177769	chr4	87495013:87495127:87499521:87499585:87529045:87529081	87499521:87499585
exon_skip_178222	chr4	87499521:87499585:87504822:87504923:87529045:87529092	87504822:87504923
exon_skip_206056	chr4	87499521:87499585:87528126:87528233:87529045:87529058	87528126:87528233
exon_skip_227065	chr4	87495038:87495127:87499521:87499585:87529045:87529092	87499521:87499585
exon_skip_229978	chr4	87499521:87499585:87528555:87528614:87529045:87529092	87528555:87528614
exon_skip_235558	chr4	87480508:87480520:87482424:87482560:87490273:87490393	87482424:87482560
exon_skip_243077	chr4	87495013:87495127:87499521:87499585:87529045:87529058	87499521:87499585
exon_skip_244822	chr4	87495116:87495127:87499521:87499585:87529045:87529092	87499521:87499585
exon_skip_25048	chr4	87499521:87499585:87528126:87528233:87529045:87529081	87528126:87528233
exon_skip_252668	chr4	87479430:87479578:87480372:87480520:87482424:87482560	87480372:87480520
exon_skip_252739	chr4	87491618:87491690:87493582:87494598:87494981:87495127	87493582:87494598
exon_skip_257879	chr4	87499521:87499585:87504822:87504923:87529045:87529058	87504822:87504923
exon_skip_263480	chr4	87494981:87495143:87499521:87499585:87529045:87529092	87499521:87499585
exon_skip_280030	chr4	87499521:87499585:87504822:87504923:87529045:87529081	87504822:87504923
exon_skip_287376	chr4	87473418:87473803:87479430:87479578:87480372:87480520	87479430:87479578
exon_skip_28891	chr4	87499521:87499585:87528126:87528233:87529045:87529092	87528126:87528233
exon_skip_295817	chr4	87494533:87494598:87494981:87495127:87499521:87499585	87494981:87495127
exon_skip_30810	chr4	87480372:87480520:87482424:87482560:87490273:87490393	87482424:87482560
exon_skip_31316	chr4	87499521:87499585:87529045:87529101:87530545:87530631	87529045:87529101
exon_skip_52127	chr4	87482424:87482560:87490273:87490393:87490760:87490878	87490273:87490393
exon_skip_67208	chr4	87499521:87499585:87504822:87504923:87528555:87528614	87504822:87504923
exon_skip_70031	chr4	87529045:87529101:87530545:87530631:87530978:87531049	87530545:87530631
exon_skip_74516	chr4	87499521:87499585:87504822:87504923:87528555:87528619	87504822:87504923
exon_skip_95917	chr4	87479518:87479578:87480372:87480520:87482424:87482560	87480372:87480520
exon_skip_9779	chr4	87479540:87479578:87480372:87480520:87482424:87482560	87480372:87480520
exon_skip_98025	chr4	87494533:87494598:87494981:87495143:87499521:87499585	87494981:87495143

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 SPARCL1

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
ENST00000418378	87504822	87504923	3UTR-3UTR
ENST00000282470	87479430	87479578	Frame-shift
ENST00000418378	87479430	87479578	Frame-shift
ENST00000282470	87480372	87480520	Frame-shift
ENST00000418378	87480372	87480520	Frame-shift
ENST00000282470	87482424	87482560	Frame-shift
ENST00000418378	87482424	87482560	Frame-shift
ENST00000282470	87490273	87490393	Frame-shift
ENST00000418378	87490273	87490393	Frame-shift
ENST00000282470	87493582	87494598	In-frame
ENST00000418378	87493582	87494598	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
ENST00000418378	87504822	87504923	3UTR-3UTR
ENST00000282470	87480372	87480520	Frame-shift
ENST00000418378	87480372	87480520	Frame-shift
ENST00000282470	87493582	87494598	In-frame
ENST00000418378	87493582	87494598	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
ENST00000418378	87504822	87504923	3UTR-3UTR
ENST00000282470	87479430	87479578	Frame-shift
ENST00000418378	87479430	87479578	Frame-shift
ENST00000282470	87480372	87480520	Frame-shift
ENST00000418378	87480372	87480520	Frame-shift
ENST00000282470	87482424	87482560	Frame-shift
ENST00000418378	87482424	87482560	Frame-shift
ENST00000282470	87490273	87490393	Frame-shift
ENST00000418378	87490273	87490393	Frame-shift
ENST00000282470	87493582	87494598	In-frame
ENST00000418378	87493582	87494598	In-frame
ENST00000282470	87494981	87495127	In-frame
ENST00000418378	87494981	87495127	In-frame

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Infer the effects of exon skipping event on protein functional features for SPARCL1

p-ENSG00000152583_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
ENST00000282470	2923	664	87493582	87494598	673	1688	67	405
ENST00000418378	3011	664	87493582	87494598	774	1789	67	405

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
ENST00000282470	2923	664	87493582	87494598	673	1688	67	405
ENST00000418378	3011	664	87493582	87494598	774	1789	67	405

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
ENST00000282470	2923	664	87494981	87495127	526	671	18	66
ENST00000418378	3011	664	87494981	87495127	627	772	18	66
ENST00000282470	2923	664	87493582	87494598	673	1688	67	405
ENST00000418378	3011	664	87493582	87494598	774	1789	67	405

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
Q14515	67	405	1	125	Alternative sequence	ID=VSP_056678;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14515	67	405	1	125	Alternative sequence	ID=VSP_056678;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14515	67	405	17	664	Chain	ID=PRO_0000020312;Note=SPARC-like protein 1
Q14515	67	405	17	664	Chain	ID=PRO_0000020312;Note=SPARC-like protein 1
Q14515	67	405	116	116	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	67	405	116	116	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	67	405	169	169	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	169	169	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	176	176	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	176	176	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	196	196	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	196	196	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	280	280	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	280	280	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	331	331	Glycosylation	Note=O-linked (GalNAc...) threonine
Q14515	67	405	331	331	Glycosylation	Note=O-linked (GalNAc...) threonine
Q14515	67	405	398	398	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19838169,ECO:0000269\|PubMed:23234360;Dbxref=PMID:19838169,PMID:23234360
Q14515	67	405	398	398	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19838169,ECO:0000269\|PubMed:23234360;Dbxref=PMID:19838169,PMID:23234360
Q14515	67	405	76	76	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	76	76	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	84	84	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	84	84	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	92	92	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	92	92	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	171	171	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	171	171	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	272	272	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	272	272	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	358	358	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	358	358	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	365	365	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P70663
Q14515	67	405	365	365	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P70663
Q14515	67	405	106	106	Natural variant	ID=VAR_058849;Note=H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7600298;Dbxref=dbSNP:rs1049544,PMID:7600298
Q14515	67	405	106	106	Natural variant	ID=VAR_058849;Note=H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7600298;Dbxref=dbSNP:rs1049544,PMID:7600298
Q14515	67	405	116	116	Sequence conflict	Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	67	405	116	116	Sequence conflict	Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	67	405	127	127	Sequence conflict	Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	67	405	127	127	Sequence conflict	Note=S->I;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
Q14515	67	405	1	125	Alternative sequence	ID=VSP_056678;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14515	67	405	1	125	Alternative sequence	ID=VSP_056678;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14515	67	405	17	664	Chain	ID=PRO_0000020312;Note=SPARC-like protein 1
Q14515	67	405	17	664	Chain	ID=PRO_0000020312;Note=SPARC-like protein 1
Q14515	67	405	116	116	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	67	405	116	116	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	67	405	169	169	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	169	169	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	176	176	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	176	176	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	196	196	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	196	196	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	280	280	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	280	280	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	331	331	Glycosylation	Note=O-linked (GalNAc...) threonine
Q14515	67	405	331	331	Glycosylation	Note=O-linked (GalNAc...) threonine
Q14515	67	405	398	398	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19838169,ECO:0000269\|PubMed:23234360;Dbxref=PMID:19838169,PMID:23234360
Q14515	67	405	398	398	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19838169,ECO:0000269\|PubMed:23234360;Dbxref=PMID:19838169,PMID:23234360
Q14515	67	405	76	76	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	76	76	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	84	84	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	84	84	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	92	92	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	92	92	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	171	171	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	171	171	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	272	272	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	272	272	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	358	358	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	358	358	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	365	365	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P70663
Q14515	67	405	365	365	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P70663
Q14515	67	405	106	106	Natural variant	ID=VAR_058849;Note=H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7600298;Dbxref=dbSNP:rs1049544,PMID:7600298
Q14515	67	405	106	106	Natural variant	ID=VAR_058849;Note=H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7600298;Dbxref=dbSNP:rs1049544,PMID:7600298
Q14515	67	405	116	116	Sequence conflict	Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	67	405	116	116	Sequence conflict	Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	67	405	127	127	Sequence conflict	Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	67	405	127	127	Sequence conflict	Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q14515	18	66	1	125	Alternative sequence	ID=VSP_056678;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14515	18	66	1	125	Alternative sequence	ID=VSP_056678;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14515	18	66	17	664	Chain	ID=PRO_0000020312;Note=SPARC-like protein 1
Q14515	18	66	17	664	Chain	ID=PRO_0000020312;Note=SPARC-like protein 1
Q14515	18	66	31	31	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	18	66	31	31	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	18	66	40	40	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	18	66	40	40	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	18	66	44	44	Glycosylation	Note=O-linked (GalNAc...) serine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	18	66	44	44	Glycosylation	Note=O-linked (GalNAc...) serine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	18	66	49	49	Natural variant	ID=VAR_016107;Note=A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7600298;Dbxref=dbSNP:rs13051,PMID:7600298
Q14515	18	66	49	49	Natural variant	ID=VAR_016107;Note=A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7600298;Dbxref=dbSNP:rs13051,PMID:7600298
Q14515	18	66	25	34	Region	Note=O-glycosylated at one additional site
Q14515	18	66	25	34	Region	Note=O-glycosylated at one additional site
Q14515	18	66	46	46	Sequence conflict	Note=R->W;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	18	66	46	46	Sequence conflict	Note=R->W;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	67	405	1	125	Alternative sequence	ID=VSP_056678;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14515	67	405	1	125	Alternative sequence	ID=VSP_056678;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q14515	67	405	17	664	Chain	ID=PRO_0000020312;Note=SPARC-like protein 1
Q14515	67	405	17	664	Chain	ID=PRO_0000020312;Note=SPARC-like protein 1
Q14515	67	405	116	116	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	67	405	116	116	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23234360;Dbxref=PMID:23234360
Q14515	67	405	169	169	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	169	169	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	176	176	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	176	176	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	196	196	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	196	196	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	280	280	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	280	280	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14515	67	405	331	331	Glycosylation	Note=O-linked (GalNAc...) threonine
Q14515	67	405	331	331	Glycosylation	Note=O-linked (GalNAc...) threonine
Q14515	67	405	398	398	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19838169,ECO:0000269\|PubMed:23234360;Dbxref=PMID:19838169,PMID:23234360
Q14515	67	405	398	398	Glycosylation	Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19838169,ECO:0000269\|PubMed:23234360;Dbxref=PMID:19838169,PMID:23234360
Q14515	67	405	76	76	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	76	76	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	84	84	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	84	84	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	92	92	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	92	92	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	171	171	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	171	171	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	272	272	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	272	272	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	358	358	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	358	358	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P24054
Q14515	67	405	365	365	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P70663
Q14515	67	405	365	365	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P70663
Q14515	67	405	106	106	Natural variant	ID=VAR_058849;Note=H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7600298;Dbxref=dbSNP:rs1049544,PMID:7600298
Q14515	67	405	106	106	Natural variant	ID=VAR_058849;Note=H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7600298;Dbxref=dbSNP:rs1049544,PMID:7600298
Q14515	67	405	116	116	Sequence conflict	Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	67	405	116	116	Sequence conflict	Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	67	405	127	127	Sequence conflict	Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14515	67	405	127	127	Sequence conflict	Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305

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3'-UTR located exon skipping events that lost miRNA binding sites in SPARCL1

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 SPARCL1

- 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 SPARCL1

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

CDR

MSBB

IFG

exon_skip_74516

-4.496496e-01

1.636595e-02

chr4

87499521

87499585

87504822

87504923

87528555

87528619

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPARCL1

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 SPARCL1

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for SPARCL1

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 SPARCL1

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 SPARCL1

Gene structures and expression levels for SPARCL1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SPARCL1

Open reading frame (ORF) annotation in the exon skipping event for SPARCL1

Infer the effects of exon skipping event on protein functional features for SPARCL1

3'-UTR located exon skipping events that lost miRNA binding sites in SPARCL1

SNVs in the skipped exons for SPARCL1

AD stage-associated exon skippint events for SPARCL1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPARCL1

Correlation with RNA binding proteins (RBPs) for SPARCL1

RelatedDrugs for SPARCL1

RelatedDiseases for SPARCL1