ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for SIRPA

Gene summary

Gene information	Gene symbol	SIRPA
	Gene ID	140885
	Gene name	signal regulatory protein alpha
	Synonyms	BIT\|CD172A\|MFR\|MYD-1\|P84\|PTPNS1\|SHPS1\|SIRP
	Cytomap	20p13
	Type of gene	protein-coding
	Description	tyrosine-protein phosphatase non-receptor type substrate 1CD172 antigen-like family member Abrain-immunoglobulin-like molecule with tyrosine-based activation motifsinhibitory receptor SHPS-1macrophage fusion receptormyd-1 antigentyrosine phosphatase
	Modification date	20200313
	UniProtAcc	P78324,
	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 SIRPA

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.

ENSG00000198053

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

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 SIRPA

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_101595	chr20	1922469:1922645:1924764:1924877:1927875:1927899	1924764:1924877
exon_skip_160632	chr20	1921395:1921712:1922313:1922645:1924764:1924877	1922313:1922645
exon_skip_86101	chr20	1922313:1922645:1924764:1924877:1927875:1927899	1924764:1924877
exon_skip_86997	chr20	1894508:1894517:1895439:1895526:1915099:1915455	1895439:1895526

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 SIRPA

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
ENST00000356025	1922313	1922645	In-frame
ENST00000358771	1922313	1922645	In-frame
ENST00000400068	1922313	1922645	In-frame
ENST00000356025	1924764	1924877	In-frame
ENST00000358771	1924764	1924877	In-frame
ENST00000400068	1924764	1924877	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
ENST00000356025	1922313	1922645	In-frame
ENST00000358771	1922313	1922645	In-frame
ENST00000400068	1922313	1922645	In-frame
ENST00000356025	1924764	1924877	In-frame
ENST00000358771	1924764	1924877	In-frame
ENST00000400068	1924764	1924877	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
ENST00000356025	1922313	1922645	In-frame
ENST00000358771	1922313	1922645	In-frame
ENST00000400068	1922313	1922645	In-frame
ENST00000356025	1924764	1924877	In-frame
ENST00000358771	1924764	1924877	In-frame
ENST00000400068	1924764	1924877	In-frame

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

p-ENSG00000198053_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
ENST00000356025	3884	504	1922313	1922645	779	1110	252	362
ENST00000358771	4013	504	1922313	1922645	908	1239	252	362
ENST00000400068	4218	504	1922313	1922645	1116	1447	252	362
ENST00000356025	3884	504	1924764	1924877	1112	1224	363	400
ENST00000358771	4013	504	1924764	1924877	1241	1353	363	400
ENST00000400068	4218	504	1924764	1924877	1449	1561	363	400

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
ENST00000356025	3884	504	1922313	1922645	779	1110	252	362
ENST00000358771	4013	504	1922313	1922645	908	1239	252	362
ENST00000400068	4218	504	1922313	1922645	1116	1447	252	362
ENST00000356025	3884	504	1924764	1924877	1112	1224	363	400
ENST00000358771	4013	504	1924764	1924877	1241	1353	363	400
ENST00000400068	4218	504	1924764	1924877	1449	1561	363	400

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
ENST00000356025	3884	504	1922313	1922645	779	1110	252	362
ENST00000358771	4013	504	1922313	1922645	908	1239	252	362
ENST00000400068	4218	504	1922313	1922645	1116	1447	252	362
ENST00000356025	3884	504	1924764	1924877	1112	1224	363	400
ENST00000358771	4013	504	1924764	1924877	1241	1353	363	400
ENST00000400068	4218	504	1924764	1924877	1449	1561	363	400

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
P78324	252	362	255	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	255	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	255	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	269	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	269	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	269	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	283	289	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	283	289	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	283	289	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	292	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	292	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	292	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	310	318	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	310	318	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	310	318	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	328	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	328	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	328	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	341	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	341	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	341	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	252	362	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	252	362	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	252	362	273	331	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P78324	252	362	273	331	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P78324	252	362	273	331	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P78324	252	362	254	348	Domain	Note=Ig-like C1-type 2
P78324	252	362	254	348	Domain	Note=Ig-like C1-type 2
P78324	252	362	254	348	Domain	Note=Ig-like C1-type 2
P78324	252	362	270	270	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	270	270	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	270	270	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	292	292	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	292	292	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	292	292	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	319	319	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	319	319	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	319	319	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	261	261	Natural variant	ID=VAR_015498;Note=Q->L
P78324	252	362	261	261	Natural variant	ID=VAR_015498;Note=Q->L
P78324	252	362	261	261	Natural variant	ID=VAR_015498;Note=Q->L
P78324	252	362	263	263	Natural variant	ID=VAR_015499;Note=V->M;Dbxref=dbSNP:rs754806675
P78324	252	362	263	263	Natural variant	ID=VAR_015499;Note=V->M;Dbxref=dbSNP:rs754806675
P78324	252	362	263	263	Natural variant	ID=VAR_015499;Note=V->M;Dbxref=dbSNP:rs754806675
P78324	252	362	271	271	Natural variant	ID=VAR_015500;Note=V->I
P78324	252	362	271	271	Natural variant	ID=VAR_015500;Note=V->I
P78324	252	362	271	271	Natural variant	ID=VAR_015500;Note=V->I
P78324	252	362	276	276	Natural variant	ID=VAR_015501;Note=R->T
P78324	252	362	276	276	Natural variant	ID=VAR_015501;Note=R->T
P78324	252	362	276	276	Natural variant	ID=VAR_015501;Note=R->T
P78324	252	362	302	302	Natural variant	ID=VAR_015502;Note=V->L;Dbxref=dbSNP:rs2422666
P78324	252	362	302	302	Natural variant	ID=VAR_015502;Note=V->L;Dbxref=dbSNP:rs2422666
P78324	252	362	302	302	Natural variant	ID=VAR_015502;Note=V->L;Dbxref=dbSNP:rs2422666
P78324	252	362	339	339	Natural variant	ID=VAR_015503;Note=P->S
P78324	252	362	339	339	Natural variant	ID=VAR_015503;Note=P->S
P78324	252	362	339	339	Natural variant	ID=VAR_015503;Note=P->S
P78324	252	362	353	353	Natural variant	ID=VAR_015504;Note=P->L;Dbxref=dbSNP:rs138876160
P78324	252	362	353	353	Natural variant	ID=VAR_015504;Note=P->L;Dbxref=dbSNP:rs138876160
P78324	252	362	353	353	Natural variant	ID=VAR_015504;Note=P->L;Dbxref=dbSNP:rs138876160
P78324	252	362	357	357	Natural variant	ID=VAR_015505;Note=G->S
P78324	252	362	357	357	Natural variant	ID=VAR_015505;Note=G->S
P78324	252	362	357	357	Natural variant	ID=VAR_015505;Note=G->S
P78324	252	362	259	259	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78324	252	362	259	259	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78324	252	362	259	259	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78324	252	362	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	363	400	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	363	400	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	363	400	367	367	Natural variant	ID=VAR_015506;Note=S->P
P78324	363	400	367	367	Natural variant	ID=VAR_015506;Note=S->P
P78324	363	400	367	367	Natural variant	ID=VAR_015506;Note=S->P
P78324	363	400	370	370	Natural variant	ID=VAR_015507;Note=R->Q;Dbxref=dbSNP:rs778218860
P78324	363	400	370	370	Natural variant	ID=VAR_015507;Note=R->Q;Dbxref=dbSNP:rs778218860
P78324	363	400	370	370	Natural variant	ID=VAR_015507;Note=R->Q;Dbxref=dbSNP:rs778218860
P78324	363	400	389	389	Natural variant	ID=VAR_015508;Note=A->E
P78324	363	400	389	389	Natural variant	ID=VAR_015508;Note=A->E
P78324	363	400	389	389	Natural variant	ID=VAR_015508;Note=A->E
P78324	363	400	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	395	504	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	395	504	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	395	504	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	374	394	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	374	394	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	374	394	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
P78324	252	362	255	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	255	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	255	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	269	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	269	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	269	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	283	289	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	283	289	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	283	289	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	292	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	292	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	292	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	310	318	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	310	318	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	310	318	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	328	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	328	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	328	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	341	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	341	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	341	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	252	362	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	252	362	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	252	362	273	331	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P78324	252	362	273	331	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P78324	252	362	273	331	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P78324	252	362	254	348	Domain	Note=Ig-like C1-type 2
P78324	252	362	254	348	Domain	Note=Ig-like C1-type 2
P78324	252	362	254	348	Domain	Note=Ig-like C1-type 2
P78324	252	362	270	270	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	270	270	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	270	270	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	292	292	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	292	292	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	292	292	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	319	319	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	319	319	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	319	319	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	261	261	Natural variant	ID=VAR_015498;Note=Q->L
P78324	252	362	261	261	Natural variant	ID=VAR_015498;Note=Q->L
P78324	252	362	261	261	Natural variant	ID=VAR_015498;Note=Q->L
P78324	252	362	263	263	Natural variant	ID=VAR_015499;Note=V->M;Dbxref=dbSNP:rs754806675
P78324	252	362	263	263	Natural variant	ID=VAR_015499;Note=V->M;Dbxref=dbSNP:rs754806675
P78324	252	362	263	263	Natural variant	ID=VAR_015499;Note=V->M;Dbxref=dbSNP:rs754806675
P78324	252	362	271	271	Natural variant	ID=VAR_015500;Note=V->I
P78324	252	362	271	271	Natural variant	ID=VAR_015500;Note=V->I
P78324	252	362	271	271	Natural variant	ID=VAR_015500;Note=V->I
P78324	252	362	276	276	Natural variant	ID=VAR_015501;Note=R->T
P78324	252	362	276	276	Natural variant	ID=VAR_015501;Note=R->T
P78324	252	362	276	276	Natural variant	ID=VAR_015501;Note=R->T
P78324	252	362	302	302	Natural variant	ID=VAR_015502;Note=V->L;Dbxref=dbSNP:rs2422666
P78324	252	362	302	302	Natural variant	ID=VAR_015502;Note=V->L;Dbxref=dbSNP:rs2422666
P78324	252	362	302	302	Natural variant	ID=VAR_015502;Note=V->L;Dbxref=dbSNP:rs2422666
P78324	252	362	339	339	Natural variant	ID=VAR_015503;Note=P->S
P78324	252	362	339	339	Natural variant	ID=VAR_015503;Note=P->S
P78324	252	362	339	339	Natural variant	ID=VAR_015503;Note=P->S
P78324	252	362	353	353	Natural variant	ID=VAR_015504;Note=P->L;Dbxref=dbSNP:rs138876160
P78324	252	362	353	353	Natural variant	ID=VAR_015504;Note=P->L;Dbxref=dbSNP:rs138876160
P78324	252	362	353	353	Natural variant	ID=VAR_015504;Note=P->L;Dbxref=dbSNP:rs138876160
P78324	252	362	357	357	Natural variant	ID=VAR_015505;Note=G->S
P78324	252	362	357	357	Natural variant	ID=VAR_015505;Note=G->S
P78324	252	362	357	357	Natural variant	ID=VAR_015505;Note=G->S
P78324	252	362	259	259	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78324	252	362	259	259	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78324	252	362	259	259	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78324	252	362	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	363	400	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	363	400	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	363	400	367	367	Natural variant	ID=VAR_015506;Note=S->P
P78324	363	400	367	367	Natural variant	ID=VAR_015506;Note=S->P
P78324	363	400	367	367	Natural variant	ID=VAR_015506;Note=S->P
P78324	363	400	370	370	Natural variant	ID=VAR_015507;Note=R->Q;Dbxref=dbSNP:rs778218860
P78324	363	400	370	370	Natural variant	ID=VAR_015507;Note=R->Q;Dbxref=dbSNP:rs778218860
P78324	363	400	370	370	Natural variant	ID=VAR_015507;Note=R->Q;Dbxref=dbSNP:rs778218860
P78324	363	400	389	389	Natural variant	ID=VAR_015508;Note=A->E
P78324	363	400	389	389	Natural variant	ID=VAR_015508;Note=A->E
P78324	363	400	389	389	Natural variant	ID=VAR_015508;Note=A->E
P78324	363	400	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	395	504	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	395	504	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	395	504	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	374	394	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	374	394	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	374	394	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
P78324	252	362	255	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	255	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	255	261	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	269	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	269	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	269	281	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	283	289	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	283	289	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	283	289	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	292	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	292	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	292	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	310	318	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	310	318	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	310	318	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	328	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	328	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	328	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	341	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	341	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	341	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WNG
P78324	252	362	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	252	362	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	252	362	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	252	362	273	331	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P78324	252	362	273	331	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P78324	252	362	273	331	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P78324	252	362	254	348	Domain	Note=Ig-like C1-type 2
P78324	252	362	254	348	Domain	Note=Ig-like C1-type 2
P78324	252	362	254	348	Domain	Note=Ig-like C1-type 2
P78324	252	362	270	270	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	270	270	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	270	270	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	292	292	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	292	292	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	292	292	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P78324	252	362	319	319	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	319	319	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	319	319	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	261	261	Natural variant	ID=VAR_015498;Note=Q->L
P78324	252	362	261	261	Natural variant	ID=VAR_015498;Note=Q->L
P78324	252	362	261	261	Natural variant	ID=VAR_015498;Note=Q->L
P78324	252	362	263	263	Natural variant	ID=VAR_015499;Note=V->M;Dbxref=dbSNP:rs754806675
P78324	252	362	263	263	Natural variant	ID=VAR_015499;Note=V->M;Dbxref=dbSNP:rs754806675
P78324	252	362	263	263	Natural variant	ID=VAR_015499;Note=V->M;Dbxref=dbSNP:rs754806675
P78324	252	362	271	271	Natural variant	ID=VAR_015500;Note=V->I
P78324	252	362	271	271	Natural variant	ID=VAR_015500;Note=V->I
P78324	252	362	271	271	Natural variant	ID=VAR_015500;Note=V->I
P78324	252	362	276	276	Natural variant	ID=VAR_015501;Note=R->T
P78324	252	362	276	276	Natural variant	ID=VAR_015501;Note=R->T
P78324	252	362	276	276	Natural variant	ID=VAR_015501;Note=R->T
P78324	252	362	302	302	Natural variant	ID=VAR_015502;Note=V->L;Dbxref=dbSNP:rs2422666
P78324	252	362	302	302	Natural variant	ID=VAR_015502;Note=V->L;Dbxref=dbSNP:rs2422666
P78324	252	362	302	302	Natural variant	ID=VAR_015502;Note=V->L;Dbxref=dbSNP:rs2422666
P78324	252	362	339	339	Natural variant	ID=VAR_015503;Note=P->S
P78324	252	362	339	339	Natural variant	ID=VAR_015503;Note=P->S
P78324	252	362	339	339	Natural variant	ID=VAR_015503;Note=P->S
P78324	252	362	353	353	Natural variant	ID=VAR_015504;Note=P->L;Dbxref=dbSNP:rs138876160
P78324	252	362	353	353	Natural variant	ID=VAR_015504;Note=P->L;Dbxref=dbSNP:rs138876160
P78324	252	362	353	353	Natural variant	ID=VAR_015504;Note=P->L;Dbxref=dbSNP:rs138876160
P78324	252	362	357	357	Natural variant	ID=VAR_015505;Note=G->S
P78324	252	362	357	357	Natural variant	ID=VAR_015505;Note=G->S
P78324	252	362	357	357	Natural variant	ID=VAR_015505;Note=G->S
P78324	252	362	259	259	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78324	252	362	259	259	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78324	252	362	259	259	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78324	252	362	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	252	362	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	363	400	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	363	400	31	504	Chain	ID=PRO_0000014941;Note=Tyrosine-protein phosphatase non-receptor type substrate 1
P78324	363	400	367	367	Natural variant	ID=VAR_015506;Note=S->P
P78324	363	400	367	367	Natural variant	ID=VAR_015506;Note=S->P
P78324	363	400	367	367	Natural variant	ID=VAR_015506;Note=S->P
P78324	363	400	370	370	Natural variant	ID=VAR_015507;Note=R->Q;Dbxref=dbSNP:rs778218860
P78324	363	400	370	370	Natural variant	ID=VAR_015507;Note=R->Q;Dbxref=dbSNP:rs778218860
P78324	363	400	370	370	Natural variant	ID=VAR_015507;Note=R->Q;Dbxref=dbSNP:rs778218860
P78324	363	400	389	389	Natural variant	ID=VAR_015508;Note=A->E
P78324	363	400	389	389	Natural variant	ID=VAR_015508;Note=A->E
P78324	363	400	389	389	Natural variant	ID=VAR_015508;Note=A->E
P78324	363	400	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	31	373	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	395	504	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	395	504	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	395	504	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	374	394	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	374	394	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P78324	363	400	374	394	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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

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 SIRPA

- 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 SIRPA

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

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

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 SIRPA

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for SIRPA

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 SIRPA

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 SIRPA

Gene structures and expression levels for SIRPA

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

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

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

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

SNVs in the skipped exons for SIRPA

AD stage-associated exon skippint events for SIRPA

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

Correlation with RNA binding proteins (RBPs) for SIRPA

RelatedDrugs for SIRPA

RelatedDiseases for SIRPA