ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for C1S

Gene summary

Gene information	Gene symbol	C1S
	Gene ID	716
	Gene name	complement C1s
	Synonyms	EDSPD2
	Cytomap	12p13.31
	Type of gene	protein-coding
	Description	complement C1s subcomponentC1 esterasebasic proline-rich peptide IB-1complement component 1 subcomponent scomplement component 1, s subcomponent
	Modification date	20200313
	UniProtAcc	A0A087X232, B5MCV4, C9IZP8, C9JY52, F5H7T4, F8WCZ6, H0Y5D1, P09871,
	Context	- 10193429(Alzheimer's Beta-Amyloid Peptides Can Activate the Early Components of Complement Classical Pathway in a C1q-independent Manner)

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 C1S

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.

ENSG00000182326

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
TC	UP	ENST00000360817.10	C1S-202:protein_coding:C1S	6.651543e+02	8.869444e-01	1.275687e-12	4.546074e-10
TC	UP	ENST00000328916.7	C1S-201:protein_coding:C1S	2.298375e+02	1.609420e+00	1.051896e-08	9.383565e-07
TC	DOWN	ENST00000443875.5	C1S-208:nonsense_mediated_decay:C1S	4.767397e+01	-1.979600e+00	1.251354e-03	1.173116e-02

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 C1S

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_105095	chr12	7061752:7061917:7062475:7062682:7062890:7063067	7062475:7062682
exon_skip_257410	chr12	7062890:7063067:7064267:7064392:7065100:7065178	7064267:7064392
exon_skip_293151	chr12	7061839:7061917:7062475:7062682:7062890:7062978	7062475:7062682
exon_skip_6245	chr12	7063034:7063067:7064267:7064392:7065100:7065178	7064267:7064392

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 C1S

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
ENST00000328916	7062475	7062682	Frame-shift
ENST00000360817	7062475	7062682	Frame-shift
ENST00000406697	7062475	7062682	Frame-shift
ENST00000328916	7064267	7064392	In-frame
ENST00000360817	7064267	7064392	In-frame
ENST00000406697	7064267	7064392	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
ENST00000328916	7062475	7062682	Frame-shift
ENST00000360817	7062475	7062682	Frame-shift
ENST00000406697	7062475	7062682	Frame-shift
ENST00000328916	7064267	7064392	In-frame
ENST00000360817	7064267	7064392	In-frame
ENST00000406697	7064267	7064392	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
ENST00000328916	7062475	7062682	Frame-shift
ENST00000360817	7062475	7062682	Frame-shift
ENST00000406697	7062475	7062682	Frame-shift
ENST00000328916	7064267	7064392	In-frame
ENST00000360817	7064267	7064392	In-frame
ENST00000406697	7064267	7064392	In-frame

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Infer the effects of exon skipping event on protein functional features for C1S

p-ENSG00000182326_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
ENST00000328916	2989	688	7064267	7064392	917	1041	131	172
ENST00000360817	2652	688	7064267	7064392	669	793	131	172
ENST00000406697	3093	688	7064267	7064392	1021	1145	131	172

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
ENST00000328916	2989	688	7064267	7064392	917	1041	131	172
ENST00000360817	2652	688	7064267	7064392	669	793	131	172
ENST00000406697	3093	688	7064267	7064392	1021	1145	131	172

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
ENST00000328916	2989	688	7064267	7064392	917	1041	131	172
ENST00000360817	2652	688	7064267	7064392	669	793	131	172
ENST00000406697	3093	688	7064267	7064392	1021	1145	131	172

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
P09871	131	172	122	131	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	122	131	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	122	131	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	137	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	137	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	137	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	143	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	143	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	143	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	153	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	153	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	153	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	162	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	162	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	162	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	171	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	171	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	171	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	16	688	Chain	ID=PRO_0000027586;Note=Complement C1s subcomponent
P09871	131	172	16	688	Chain	ID=PRO_0000027586;Note=Complement C1s subcomponent
P09871	131	172	16	688	Chain	ID=PRO_0000027586;Note=Complement C1s subcomponent
P09871	131	172	16	437	Chain	ID=PRO_0000027587;Note=Complement C1s subcomponent heavy chain
P09871	131	172	16	437	Chain	ID=PRO_0000027587;Note=Complement C1s subcomponent heavy chain
P09871	131	172	16	437	Chain	ID=PRO_0000027587;Note=Complement C1s subcomponent heavy chain
P09871	131	172	135	147	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	135	147	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	135	147	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	143	156	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	143	156	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	143	156	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	158	171	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	158	171	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	158	171	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	131	172	Domain	Note=EGF-like%3B calcium-binding
P09871	131	172	131	172	Domain	Note=EGF-like%3B calcium-binding
P09871	131	172	131	172	Domain	Note=EGF-like%3B calcium-binding
P09871	131	172	131	131	Metal binding	Note=Calcium
P09871	131	172	131	131	Metal binding	Note=Calcium
P09871	131	172	131	131	Metal binding	Note=Calcium
P09871	131	172	132	132	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	132	132	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	132	132	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	134	134	Metal binding	Note=Calcium
P09871	131	172	134	134	Metal binding	Note=Calcium
P09871	131	172	134	134	Metal binding	Note=Calcium
P09871	131	172	149	149	Metal binding	Note=Calcium
P09871	131	172	149	149	Metal binding	Note=Calcium
P09871	131	172	149	149	Metal binding	Note=Calcium
P09871	131	172	150	150	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	150	150	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	150	150	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	153	153	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	153	153	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	153	153	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	149	149	Modified residue	Note=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2141278;Dbxref=PMID:2141278
P09871	131	172	149	149	Modified residue	Note=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2141278;Dbxref=PMID:2141278
P09871	131	172	149	149	Modified residue	Note=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2141278;Dbxref=PMID:2141278
P09871	131	172	134	136	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	134	136	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	134	136	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI

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
P09871	131	172	122	131	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	122	131	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	122	131	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	137	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	137	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	137	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	143	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	143	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	143	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	153	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	153	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	153	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	162	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	162	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	162	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	171	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	171	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	171	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	16	688	Chain	ID=PRO_0000027586;Note=Complement C1s subcomponent
P09871	131	172	16	688	Chain	ID=PRO_0000027586;Note=Complement C1s subcomponent
P09871	131	172	16	688	Chain	ID=PRO_0000027586;Note=Complement C1s subcomponent
P09871	131	172	16	437	Chain	ID=PRO_0000027587;Note=Complement C1s subcomponent heavy chain
P09871	131	172	16	437	Chain	ID=PRO_0000027587;Note=Complement C1s subcomponent heavy chain
P09871	131	172	16	437	Chain	ID=PRO_0000027587;Note=Complement C1s subcomponent heavy chain
P09871	131	172	135	147	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	135	147	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	135	147	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	143	156	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	143	156	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	143	156	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	158	171	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	158	171	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	158	171	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	131	172	Domain	Note=EGF-like%3B calcium-binding
P09871	131	172	131	172	Domain	Note=EGF-like%3B calcium-binding
P09871	131	172	131	172	Domain	Note=EGF-like%3B calcium-binding
P09871	131	172	131	131	Metal binding	Note=Calcium
P09871	131	172	131	131	Metal binding	Note=Calcium
P09871	131	172	131	131	Metal binding	Note=Calcium
P09871	131	172	132	132	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	132	132	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	132	132	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	134	134	Metal binding	Note=Calcium
P09871	131	172	134	134	Metal binding	Note=Calcium
P09871	131	172	134	134	Metal binding	Note=Calcium
P09871	131	172	149	149	Metal binding	Note=Calcium
P09871	131	172	149	149	Metal binding	Note=Calcium
P09871	131	172	149	149	Metal binding	Note=Calcium
P09871	131	172	150	150	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	150	150	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	150	150	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	153	153	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	153	153	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	153	153	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	149	149	Modified residue	Note=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2141278;Dbxref=PMID:2141278
P09871	131	172	149	149	Modified residue	Note=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2141278;Dbxref=PMID:2141278
P09871	131	172	149	149	Modified residue	Note=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2141278;Dbxref=PMID:2141278
P09871	131	172	134	136	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	134	136	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	134	136	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI

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
P09871	131	172	122	131	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	122	131	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	122	131	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	137	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	137	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	137	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	143	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	143	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	143	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	153	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	153	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	153	157	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	162	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	162	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	162	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	171	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	171	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	171	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4LOR
P09871	131	172	16	688	Chain	ID=PRO_0000027586;Note=Complement C1s subcomponent
P09871	131	172	16	688	Chain	ID=PRO_0000027586;Note=Complement C1s subcomponent
P09871	131	172	16	688	Chain	ID=PRO_0000027586;Note=Complement C1s subcomponent
P09871	131	172	16	437	Chain	ID=PRO_0000027587;Note=Complement C1s subcomponent heavy chain
P09871	131	172	16	437	Chain	ID=PRO_0000027587;Note=Complement C1s subcomponent heavy chain
P09871	131	172	16	437	Chain	ID=PRO_0000027587;Note=Complement C1s subcomponent heavy chain
P09871	131	172	135	147	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	135	147	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	135	147	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	143	156	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	143	156	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	143	156	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	158	171	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	158	171	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	158	171	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2007122;Dbxref=PMID:2007122
P09871	131	172	131	172	Domain	Note=EGF-like%3B calcium-binding
P09871	131	172	131	172	Domain	Note=EGF-like%3B calcium-binding
P09871	131	172	131	172	Domain	Note=EGF-like%3B calcium-binding
P09871	131	172	131	131	Metal binding	Note=Calcium
P09871	131	172	131	131	Metal binding	Note=Calcium
P09871	131	172	131	131	Metal binding	Note=Calcium
P09871	131	172	132	132	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	132	132	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	132	132	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	134	134	Metal binding	Note=Calcium
P09871	131	172	134	134	Metal binding	Note=Calcium
P09871	131	172	134	134	Metal binding	Note=Calcium
P09871	131	172	149	149	Metal binding	Note=Calcium
P09871	131	172	149	149	Metal binding	Note=Calcium
P09871	131	172	149	149	Metal binding	Note=Calcium
P09871	131	172	150	150	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	150	150	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	150	150	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	153	153	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	153	153	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	153	153	Metal binding	Note=Calcium%3B via carbonyl oxygen
P09871	131	172	149	149	Modified residue	Note=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2141278;Dbxref=PMID:2141278
P09871	131	172	149	149	Modified residue	Note=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2141278;Dbxref=PMID:2141278
P09871	131	172	149	149	Modified residue	Note=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2141278;Dbxref=PMID:2141278
P09871	131	172	134	136	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	134	136	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI
P09871	131	172	134	136	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1NZI

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3'-UTR located exon skipping events that lost miRNA binding sites in C1S

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 C1S

- 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 C1S

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 C1S

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 C1S

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for C1S

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P09871	approved	DB00002	Cetuximab	biotech	P09871
P09871	approved\|investigational	DB00005	Etanercept	biotech	P09871
P09871	approved	DB00054	Abciximab	biotech	P09871
P09871	approved\|investigational	DB00056	Gemtuzumab ozogamicin	biotech	P09871
P09871	approved\|investigational	DB00072	Trastuzumab	biotech	P09871
P09871	approved\|investigational	DB00074	Basiliximab	biotech	P09871
P09871	approved\|investigational	DB00075	Muromonab	biotech	P09871
P09871	approved\|investigational	DB00078	Ibritumomab tiuxetan	biotech	P09871
P09871	approved\|investigational	DB01593	Zinc	small molecule	P09871
P09871	approved	DB06404	Human C1-esterase inhibitor	biotech	P09871
P09871	approved\|investigational	DB09228	Conestat alfa	biotech	P09871
P09871	approved\|investigational	DB14487	Zinc acetate	small molecule	P09871
P09871	approved\|investigational	DB14533	Zinc chloride	small molecule	P09871

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RelatedDiseases for C1S

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 C1S

Gene structures and expression levels for C1S

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for C1S

Open reading frame (ORF) annotation in the exon skipping event for C1S

Infer the effects of exon skipping event on protein functional features for C1S

3'-UTR located exon skipping events that lost miRNA binding sites in C1S

SNVs in the skipped exons for C1S

AD stage-associated exon skippint events for C1S

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C1S

Correlation with RNA binding proteins (RBPs) for C1S

RelatedDrugs for C1S

RelatedDiseases for C1S