ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for CFH

Gene summary

Gene information	Gene symbol	CFH
	Gene ID	3075
	Gene name	complement factor H
	Synonyms	AHUS1\|AMBP1\|ARMD4\|ARMS1\|CFHL3\|FH\|FHL1\|HF\|HF1\|HF2\|HUS
	Cytomap	1q31.3
	Type of gene	protein-coding
	Description	complement factor HH factor 1 (complement)H factor 2 (complement)adrenomedullin binding proteinage-related maculopathy susceptibility 1beta-1-H-globulinbeta-1Hfactor Hfactor H-like 1
	Modification date	20200327
	UniProtAcc	A0A0D9SG88, P08603, Q5TFM2, U5TZG9,
	Context	- 32022122(Complement factor H levels are decreased and correlated with serum C-reactive protein in late-onset Alzheimer's disease)

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

Gene	GO ID	GO term	PubMed ID
CFH	GO:0006956	complement activation	24835392
CFH	GO:0030449	regulation of complement activation	25284781
CFH	GO:1903659	regulation of complement-dependent cytotoxicity	25284781

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Gene structures and expression levels for CFH

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.

ENSG00000000971

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	DOWN	ENST00000359637.2	CFH-201:protein_coding:CFH	5.138750e+00	-4.775263e+00	5.388711e-08	3.693979e-06
TC	UP	ENST00000630130.2	CFH-206:protein_coding:CFH	1.408637e+02	1.435884e+00	3.241694e-07	1.613878e-05

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 CFH

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_147318	chr1	196737475:196737660:196740619:196740792:196741875:196742051	196740619:196740792
exon_skip_187017	chr1	196675989:196676065:196677476:196677667:196679623:196679793	196677476:196677667
exon_skip_25888	chr1	196673857:196673962:196675989:196676065:196677476:196677667	196675989:196676065
exon_skip_277593	chr1	196715593:196715769:196725121:196725297:196726470:196726652	196725121:196725297
exon_skip_84603	chr1	196728346:196728522:196736824:196737006:196737475:196737660	196736824:196737006

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 CFH

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
ENST00000367429	196677476	196677667	In-frame
ENST00000367429	196725121	196725297	In-frame
ENST00000367429	196736824	196737006	In-frame
ENST00000367429	196740619	196740792	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
ENST00000367429	196736824	196737006	In-frame
ENST00000367429	196740619	196740792	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
ENST00000367429	196675989	196676065	Frame-shift
ENST00000367429	196725121	196725297	In-frame
ENST00000367429	196736824	196737006	In-frame
ENST00000367429	196740619	196740792	In-frame

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

p-ENSG00000000971_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
ENST00000367429	4144	1231	196677476	196677667	669	859	143	206
ENST00000367429	4144	1231	196725121	196725297	1938	2113	566	624
ENST00000367429	4144	1231	196736824	196737006	2655	2836	805	865
ENST00000367429	4144	1231	196740619	196740792	3024	3196	928	985

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
ENST00000367429	4144	1231	196736824	196737006	2655	2836	805	865
ENST00000367429	4144	1231	196740619	196740792	3024	3196	928	985

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
ENST00000367429	4144	1231	196725121	196725297	1938	2113	566	624
ENST00000367429	4144	1231	196736824	196737006	2655	2836	805	865
ENST00000367429	4144	1231	196740619	196740792	3024	3196	928	985

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
P08603	143	206	140	143	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WII
P08603	143	206	155	158	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RLQ
P08603	143	206	159	162	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WII
P08603	143	206	172	175	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WII
P08603	143	206	182	186	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WII
P08603	143	206	188	192	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WII
P08603	143	206	196	200	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WII
P08603	143	206	204	207	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2WII
P08603	143	206	19	1231	Chain	ID=PRO_0000005894;Note=Complement factor H
P08603	143	206	146	192	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	143	206	178	205	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	143	206	83	143	Domain	Note=Sushi 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	143	206	144	207	Domain	Note=Sushi 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	566	624	450	1231	Alternative sequence	ID=VSP_001191;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2963625;Dbxref=PMID:15489334,PMID:2963625
P08603	566	624	578	581	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	585	587	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	592	597	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	602	605	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	607	612	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	615	618	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	622	626	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	19	1231	Chain	ID=PRO_0000005894;Note=Complement factor H
P08603	566	624	569	611	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	566	624	597	623	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	566	624	515	566	Domain	Note=Sushi 9;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	566	624	567	625	Domain	Note=Sushi 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	566	624	567	567	Natural variant	ID=VAR_043893;Note=Associated with basal laminar drusen. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18252232;Dbxref=PMID:18252232
P08603	566	624	609	609	Natural variant	ID=VAR_063649;Note=In AHUS1. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20513133;Dbxref=PMID:20513133
P08603	805	865	450	1231	Alternative sequence	ID=VSP_001191;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2963625;Dbxref=PMID:15489334,PMID:2963625
P08603	805	865	19	1231	Chain	ID=PRO_0000005894;Note=Complement factor H
P08603	805	865	811	853	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	839	864	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	751	805	Domain	Note=Sushi 13;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	809	866	Domain	Note=Sushi 14;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	822	822	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17591618;Dbxref=PMID:17591618
P08603	805	865	850	850	Natural variant	ID=VAR_025866;Note=In AHUS1%3B variant confirmed at protein level. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12960213,ECO:0000269\|PubMed:22028381;Dbxref=PMID:12960213,PMID:22028381
P08603	928	985	450	1231	Alternative sequence	ID=VSP_001191;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2963625;Dbxref=PMID:15489334,PMID:2963625
P08603	928	985	940	943	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	950	952	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HFH
P08603	928	985	957	959	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	965	967	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	971	974	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	977	979	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	19	1231	Chain	ID=PRO_0000005894;Note=Complement factor H
P08603	928	985	931	973	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	959	984	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	868	928	Domain	Note=Sushi 15;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	929	986	Domain	Note=Sushi 16;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	936	936	Natural variant	ID=VAR_020261;Note=Polymorphism associated with hemolytic uremic syndrome and basal laminar drusen. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14583443,ECO:0000269\|PubMed:18252232,ECO:0000269\|PubMed:2051
P08603	928	985	950	950	Natural variant	ID=VAR_025867;Note=In AHUS1. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14583443;Dbxref=dbSNP:rs149474608,PMID:14583443
P08603	928	985	951	951	Natural variant	ID=VAR_025868;Note=In AHUS1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14583443;Dbxref=PMID:14583443
P08603	928	985	956	956	Natural variant	ID=VAR_025869;Note=In AHUS1. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11170895,ECO:0000269\|PubMed:11851332;Dbxref=dbSNP:rs145975787,PMID:11170895,PMID:11851332
P08603	928	985	959	959	Natural variant	ID=VAR_019406;Note=In CFHD%3B variant confirmed at protein level. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:22028381,ECO:0000269\|PubMed:9312129;Dbxref=PMID:22028381,PMID:9312129
P08603	928	985	978	978	Natural variant	ID=VAR_025870;Note=In AHUS1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12960213;Dbxref=PMID:12960213

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
P08603	805	865	450	1231	Alternative sequence	ID=VSP_001191;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2963625;Dbxref=PMID:15489334,PMID:2963625
P08603	805	865	19	1231	Chain	ID=PRO_0000005894;Note=Complement factor H
P08603	805	865	811	853	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	839	864	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	751	805	Domain	Note=Sushi 13;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	809	866	Domain	Note=Sushi 14;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	822	822	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17591618;Dbxref=PMID:17591618
P08603	805	865	850	850	Natural variant	ID=VAR_025866;Note=In AHUS1%3B variant confirmed at protein level. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12960213,ECO:0000269\|PubMed:22028381;Dbxref=PMID:12960213,PMID:22028381
P08603	928	985	450	1231	Alternative sequence	ID=VSP_001191;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2963625;Dbxref=PMID:15489334,PMID:2963625
P08603	928	985	940	943	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	950	952	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HFH
P08603	928	985	957	959	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	965	967	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	971	974	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	977	979	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	19	1231	Chain	ID=PRO_0000005894;Note=Complement factor H
P08603	928	985	931	973	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	959	984	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	868	928	Domain	Note=Sushi 15;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	929	986	Domain	Note=Sushi 16;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	936	936	Natural variant	ID=VAR_020261;Note=Polymorphism associated with hemolytic uremic syndrome and basal laminar drusen. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14583443,ECO:0000269\|PubMed:18252232,ECO:0000269\|PubMed:2051
P08603	928	985	950	950	Natural variant	ID=VAR_025867;Note=In AHUS1. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14583443;Dbxref=dbSNP:rs149474608,PMID:14583443
P08603	928	985	951	951	Natural variant	ID=VAR_025868;Note=In AHUS1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14583443;Dbxref=PMID:14583443
P08603	928	985	956	956	Natural variant	ID=VAR_025869;Note=In AHUS1. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11170895,ECO:0000269\|PubMed:11851332;Dbxref=dbSNP:rs145975787,PMID:11170895,PMID:11851332
P08603	928	985	959	959	Natural variant	ID=VAR_019406;Note=In CFHD%3B variant confirmed at protein level. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:22028381,ECO:0000269\|PubMed:9312129;Dbxref=PMID:22028381,PMID:9312129
P08603	928	985	978	978	Natural variant	ID=VAR_025870;Note=In AHUS1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12960213;Dbxref=PMID:12960213

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
P08603	566	624	450	1231	Alternative sequence	ID=VSP_001191;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2963625;Dbxref=PMID:15489334,PMID:2963625
P08603	566	624	578	581	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	585	587	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	592	597	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	602	605	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	607	612	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	615	618	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	622	626	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B2R
P08603	566	624	19	1231	Chain	ID=PRO_0000005894;Note=Complement factor H
P08603	566	624	569	611	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	566	624	597	623	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	566	624	515	566	Domain	Note=Sushi 9;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	566	624	567	625	Domain	Note=Sushi 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	566	624	567	567	Natural variant	ID=VAR_043893;Note=Associated with basal laminar drusen. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18252232;Dbxref=PMID:18252232
P08603	566	624	609	609	Natural variant	ID=VAR_063649;Note=In AHUS1. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20513133;Dbxref=PMID:20513133
P08603	805	865	450	1231	Alternative sequence	ID=VSP_001191;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2963625;Dbxref=PMID:15489334,PMID:2963625
P08603	805	865	19	1231	Chain	ID=PRO_0000005894;Note=Complement factor H
P08603	805	865	811	853	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	839	864	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	751	805	Domain	Note=Sushi 13;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	809	866	Domain	Note=Sushi 14;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	805	865	822	822	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17591618;Dbxref=PMID:17591618
P08603	805	865	850	850	Natural variant	ID=VAR_025866;Note=In AHUS1%3B variant confirmed at protein level. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12960213,ECO:0000269\|PubMed:22028381;Dbxref=PMID:12960213,PMID:22028381
P08603	928	985	450	1231	Alternative sequence	ID=VSP_001191;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:2963625;Dbxref=PMID:15489334,PMID:2963625
P08603	928	985	940	943	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	950	952	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HFH
P08603	928	985	957	959	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	965	967	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	971	974	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	977	979	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HCC
P08603	928	985	19	1231	Chain	ID=PRO_0000005894;Note=Complement factor H
P08603	928	985	931	973	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	959	984	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	868	928	Domain	Note=Sushi 15;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	929	986	Domain	Note=Sushi 16;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
P08603	928	985	936	936	Natural variant	ID=VAR_020261;Note=Polymorphism associated with hemolytic uremic syndrome and basal laminar drusen. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14583443,ECO:0000269\|PubMed:18252232,ECO:0000269\|PubMed:2051
P08603	928	985	950	950	Natural variant	ID=VAR_025867;Note=In AHUS1. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14583443;Dbxref=dbSNP:rs149474608,PMID:14583443
P08603	928	985	951	951	Natural variant	ID=VAR_025868;Note=In AHUS1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14583443;Dbxref=PMID:14583443
P08603	928	985	956	956	Natural variant	ID=VAR_025869;Note=In AHUS1. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11170895,ECO:0000269\|PubMed:11851332;Dbxref=dbSNP:rs145975787,PMID:11170895,PMID:11851332
P08603	928	985	959	959	Natural variant	ID=VAR_019406;Note=In CFHD%3B variant confirmed at protein level. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:22028381,ECO:0000269\|PubMed:9312129;Dbxref=PMID:22028381,PMID:9312129
P08603	928	985	978	978	Natural variant	ID=VAR_025870;Note=In AHUS1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12960213;Dbxref=PMID:12960213

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

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 CFH

- 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 CFH

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 CFH

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 CFH

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for CFH

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P08603	approved\|investigational	DB01593	Zinc	small molecule	P08603
P08603	approved\|investigational	DB14487	Zinc acetate	small molecule	P08603
P08603	approved\|investigational	DB14533	Zinc chloride	small molecule	P08603

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RelatedDiseases for CFH

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 CFH

Gene structures and expression levels for CFH

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

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

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

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

SNVs in the skipped exons for CFH

AD stage-associated exon skippint events for CFH

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

Correlation with RNA binding proteins (RBPs) for CFH

RelatedDrugs for CFH

RelatedDiseases for CFH