ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for CHID1

Gene summary

Gene information	Gene symbol	CHID1
	Gene ID	66005
	Gene name	chitinase domain containing 1
	Synonyms	GL008\|SI-CLP\|SICLP
	Cytomap	11p15.5
	Type of gene	protein-coding
	Description	chitinase domain-containing protein 1stabilin-1 interacting chitinase-like protein
	Modification date	20200313
	UniProtAcc	A0A024RCB5, E9PI70, E9PIP0, E9PJ91, E9PJL0, E9PKF1, E9PPA0, E9PPH0, E9PQZ0, E9PRL3, H0YC89, H0YCC4, H0YDL6, H0YEA3, Q9BWS9,
	Context

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

Gene	GO ID	GO term	PubMed ID
CHID1	GO:1900016	negative regulation of cytokine production involved in inflammatory response	20724479

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Gene structures and expression levels for CHID1

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.

ENSG00000177830

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
CB	DOWN	ENST00000532909.5	CHID1-220:nonsense_mediated_decay:CHID1	1.526878e+01	-8.212722e-01	1.406207e-05	1.404811e-04
CB	DOWN	ENST00000529539.5	CHID1-216:protein_coding:CHID1	6.692551e+00	-8.378066e-01	2.261220e-04	1.477737e-03
CB	DOWN	ENST00000525225.1	CHID1-208:protein_coding:CHID1	7.541153e-01	-1.185002e+00	5.396081e-03	2.096743e-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 CHID1

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_112585	chr11	902971:903111:903656:903753:904706:904816	903656:903753
exon_skip_123676	chr11	904706:904859:908215:908296:908542:908645	908215:908296
exon_skip_135819	chr11	868399:868671:869214:869345:869858:869956	869214:869345
exon_skip_143761	chr11	902962:903111:903656:903753:904706:904859	903656:903753
exon_skip_145335	chr11	884068:884169:893427:893519:899340:899401	893427:893519
exon_skip_159004	chr11	868513:868671:869214:869345:869858:869956	869214:869345
exon_skip_160946	chr11	869214:869345:869858:869956:870121:870163	869858:869956
exon_skip_181950	chr11	904737:904859:908542:908645:910775:910810	908542:908645
exon_skip_183616	chr11	868395:868671:869214:869345:869858:869956	869214:869345
exon_skip_192920	chr11	884068:884169:893427:893519:899340:899395	893427:893519
exon_skip_199840	chr11	870122:870163:870419:870499:883200:883303	870419:870499
exon_skip_213437	chr11	904737:904859:908215:908296:908542:908645	908215:908296
exon_skip_235952	chr11	904706:904859:908542:908645:910641:910821	908542:908645
exon_skip_295680	chr11	904737:904859:908542:908645:910641:910791	908542:908645
exon_skip_35110	chr11	870122:870163:870419:870499:883148:883178	870419:870499
exon_skip_64463	chr11	902971:903111:903704:903778:904706:904816	903704:903778
exon_skip_81669	chr11	883148:883303:884068:884169:893427:893519	884068:884169
exon_skip_9107	chr11	884068:884169:893427:893519:899340:899371	893427:893519
exon_skip_98136	chr11	868399:868671:869214:869345:869858:869916	869214:869345

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 CHID1

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
ENST00000436108	908542	908645	3UTR-3UTR
ENST00000323578	870419	870499	In-frame
ENST00000436108	870419	870499	In-frame
ENST00000449825	870419	870499	In-frame
ENST00000323578	884068	884169	In-frame
ENST00000436108	884068	884169	In-frame
ENST00000449825	884068	884169	In-frame
ENST00000323578	893427	893519	In-frame
ENST00000436108	893427	893519	In-frame
ENST00000449825	893427	893519	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
ENST00000436108	908542	908645	3UTR-3UTR
ENST00000323578	893427	893519	In-frame
ENST00000436108	893427	893519	In-frame
ENST00000449825	893427	893519	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
ENST00000436108	908542	908645	3UTR-3UTR
ENST00000323578	870419	870499	In-frame
ENST00000436108	870419	870499	In-frame
ENST00000449825	870419	870499	In-frame
ENST00000323578	893427	893519	In-frame
ENST00000436108	893427	893519	In-frame
ENST00000449825	893427	893519	In-frame

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Infer the effects of exon skipping event on protein functional features for CHID1

p-ENSG00000177830_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
ENST00000323578	3391	393	893427	893519	1339	1430	203	233
ENST00000436108	1494	393	893427	893519	813	904	203	233
ENST00000449825	3554	393	893427	893519	966	1057	203	233
ENST00000323578	3391	393	884068	884169	1432	1532	234	267
ENST00000436108	1494	393	884068	884169	906	1006	234	267
ENST00000449825	3554	393	884068	884169	1059	1159	234	267
ENST00000323578	3391	393	870419	870499	1690	1769	320	346
ENST00000436108	1494	393	870419	870499	1164	1243	320	346
ENST00000449825	3554	393	870419	870499	1317	1396	320	346

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
ENST00000323578	3391	393	893427	893519	1339	1430	203	233
ENST00000436108	1494	393	893427	893519	813	904	203	233
ENST00000449825	3554	393	893427	893519	966	1057	203	233

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
ENST00000323578	3391	393	893427	893519	1339	1430	203	233
ENST00000436108	1494	393	893427	893519	813	904	203	233
ENST00000449825	3554	393	893427	893519	966	1057	203	233
ENST00000323578	3391	393	870419	870499	1690	1769	320	346
ENST00000436108	1494	393	870419	870499	1164	1243	320	346
ENST00000449825	3554	393	870419	870499	1317	1396	320	346

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
Q9BWS9	203	233	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	203	233	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	203	233	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	203	233	222	227	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	222	227	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	222	227	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	203	233	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	203	233	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	203	233	202	218	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	202	218	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	202	218	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	234	267	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	234	267	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	234	267	236	238	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	236	238	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	236	238	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	254	258	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	254	258	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	254	258	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	234	267	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	234	267	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	234	267	243	249	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	243	249	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	243	249	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	261	261	Mutagenesis	Note=Significantly decreased carbohydrate binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20724479;Dbxref=PMID:20724479
Q9BWS9	234	267	261	261	Mutagenesis	Note=Significantly decreased carbohydrate binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20724479;Dbxref=PMID:20724479
Q9BWS9	234	267	261	261	Mutagenesis	Note=Significantly decreased carbohydrate binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20724479;Dbxref=PMID:20724479
Q9BWS9	234	267	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	250	252	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	250	252	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	234	267	250	252	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	333	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	333	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	333	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	340	347	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	340	347	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	340	347	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	320	346	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	320	346	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	320	346	318	328	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	318	328	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	318	328	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	331	331	Natural variant	ID=VAR_031173;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs1127800,PMID:15489334
Q9BWS9	320	346	331	331	Natural variant	ID=VAR_031173;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs1127800,PMID:15489334
Q9BWS9	320	346	331	331	Natural variant	ID=VAR_031173;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs1127800,PMID:15489334
Q9BWS9	320	346	338	338	Natural variant	ID=VAR_031174;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs6682,PMID:14702039,PMID:15489334
Q9BWS9	320	346	338	338	Natural variant	ID=VAR_031174;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs6682,PMID:14702039,PMID:15489334
Q9BWS9	320	346	338	338	Natural variant	ID=VAR_031174;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs6682,PMID:14702039,PMID:15489334
Q9BWS9	320	346	335	335	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BWS9	320	346	335	335	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BWS9	320	346	335	335	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BWS9	320	346	336	339	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	336	339	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	336	339	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW

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
Q9BWS9	203	233	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	203	233	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	203	233	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	203	233	222	227	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	222	227	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	222	227	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	203	233	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	203	233	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	203	233	202	218	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	202	218	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	202	218	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW

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
Q9BWS9	203	233	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	203	233	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	203	233	204	234	Alternative sequence	ID=VSP_023826;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q9BWS9	203	233	222	227	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	222	227	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	222	227	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	203	233	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	203	233	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	203	233	202	218	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	202	218	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	202	218	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	203	233	233	235	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	333	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	333	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	333	335	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	340	347	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	340	347	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	340	347	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	320	346	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	320	346	20	393	Chain	ID=PRO_0000280608;Note=Chitinase domain-containing protein 1
Q9BWS9	320	346	318	328	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	318	328	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	318	328	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	331	331	Natural variant	ID=VAR_031173;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs1127800,PMID:15489334
Q9BWS9	320	346	331	331	Natural variant	ID=VAR_031173;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs1127800,PMID:15489334
Q9BWS9	320	346	331	331	Natural variant	ID=VAR_031173;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs1127800,PMID:15489334
Q9BWS9	320	346	338	338	Natural variant	ID=VAR_031174;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs6682,PMID:14702039,PMID:15489334
Q9BWS9	320	346	338	338	Natural variant	ID=VAR_031174;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs6682,PMID:14702039,PMID:15489334
Q9BWS9	320	346	338	338	Natural variant	ID=VAR_031174;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs6682,PMID:14702039,PMID:15489334
Q9BWS9	320	346	335	335	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BWS9	320	346	335	335	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BWS9	320	346	335	335	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BWS9	320	346	336	339	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	336	339	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW
Q9BWS9	320	346	336	339	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3BXW

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3'-UTR located exon skipping events that lost miRNA binding sites in CHID1

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
Mayo	ENST00000436108	908542	908645	hsa-miR-6726-5p	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
Mayo	ENST00000436108	908542	908645	hsa-miR-4300	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
Mayo	ENST00000436108	908542	908645	hsa-miR-4492	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
Mayo	ENST00000436108	908542	908645	hsa-miR-920	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
Mayo	ENST00000436108	908542	908645	hsa-miR-1827	chr11:908563-908570	8mer-1a	chr11:908558-908577	164.00	-25.68
Mayo	ENST00000436108	908542	908645	hsa-miR-4498	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
Mayo	ENST00000436108	908542	908645	hsa-miR-762	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
Mayo	ENST00000436108	908542	908645	hsa-miR-5001-5p	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
Mayo	ENST00000436108	908542	908645	hsa-miR-5591-5p	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
Mayo	ENST00000436108	908542	908645	hsa-miR-661	chr11:908574-908581	8mer-1a	chr11:908567-908586	165.00	-27.62
MSBB	ENST00000436108	908542	908645	hsa-miR-6726-5p	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
MSBB	ENST00000436108	908542	908645	hsa-miR-4300	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
MSBB	ENST00000436108	908542	908645	hsa-miR-4492	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
MSBB	ENST00000436108	908542	908645	hsa-miR-920	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
MSBB	ENST00000436108	908542	908645	hsa-miR-1827	chr11:908563-908570	8mer-1a	chr11:908558-908577	164.00	-25.68
MSBB	ENST00000436108	908542	908645	hsa-miR-4498	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
MSBB	ENST00000436108	908542	908645	hsa-miR-762	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
MSBB	ENST00000436108	908542	908645	hsa-miR-5001-5p	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
MSBB	ENST00000436108	908542	908645	hsa-miR-5591-5p	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
MSBB	ENST00000436108	908542	908645	hsa-miR-661	chr11:908574-908581	8mer-1a	chr11:908567-908586	165.00	-27.62
ROSMAP	ENST00000436108	908542	908645	hsa-miR-6726-5p	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
ROSMAP	ENST00000436108	908542	908645	hsa-miR-4300	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
ROSMAP	ENST00000436108	908542	908645	hsa-miR-4492	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
ROSMAP	ENST00000436108	908542	908645	hsa-miR-920	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
ROSMAP	ENST00000436108	908542	908645	hsa-miR-1827	chr11:908563-908570	8mer-1a	chr11:908558-908577	164.00	-25.68
ROSMAP	ENST00000436108	908542	908645	hsa-miR-4498	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
ROSMAP	ENST00000436108	908542	908645	hsa-miR-762	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
ROSMAP	ENST00000436108	908542	908645	hsa-miR-5001-5p	chr11:908596-908603	8mer-1a	chr11:908580-908604	167.00	-36.12
ROSMAP	ENST00000436108	908542	908645	hsa-miR-5591-5p	chr11:908570-908577	8mer-1a	chr11:908567-908586	165.00	-27.62
ROSMAP	ENST00000436108	908542	908645	hsa-miR-661	chr11:908574-908581	8mer-1a	chr11:908567-908586	165.00	-27.62

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SNVs in the skipped exons for CHID1

- 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 CHID1

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_145335

4.938579e-01

7.564407e-03

chr11

884068

884169

893427

893519

899340

899401

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHID1

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 CHID1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	CNOT4	exon_skip_181950	-4.179932e-01	4.200809e-08
CB	TRA2A	exon_skip_181950	-4.063346e-01	1.070375e-07
DLPFC	RBM25	exon_skip_181950	4.520027e-01	2.012502e-18
IFG	TRA2A	exon_skip_181950	-4.213124e-01	2.862251e-02
IFG	SRSF1	exon_skip_181950	-4.366218e-01	2.278363e-02

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RelatedDrugs for CHID1

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 CHID1

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 CHID1

Gene structures and expression levels for CHID1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CHID1

Open reading frame (ORF) annotation in the exon skipping event for CHID1

Infer the effects of exon skipping event on protein functional features for CHID1

3'-UTR located exon skipping events that lost miRNA binding sites in CHID1

SNVs in the skipped exons for CHID1

AD stage-associated exon skippint events for CHID1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHID1

Correlation with RNA binding proteins (RBPs) for CHID1

RelatedDrugs for CHID1

RelatedDiseases for CHID1