ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for CLTC

Gene summary

Gene information	Gene symbol	CLTC
	Gene ID	1213
	Gene name	clathrin heavy chain
	Synonyms	CHC\|CHC17\|CLH-17\|CLTCL2\|Hc\|MRD56
	Cytomap	17q23.1
	Type of gene	protein-coding
	Description	clathrin heavy chain 1clathrin heavy chain on chromosome 17clathrin, heavy polypeptide (Hc)clathrin, heavy polypeptide-like 2
	Modification date	20200313
	UniProtAcc	A0A087WVQ6, J3KRF5, J3KS13, J3KSQ2, J3KTN1, J3QL20, K7EJJ5, Q00610, Q49AL0,
	Context

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

Gene	GO ID	GO term	PubMed ID
CLTC	GO:1900126	negative regulation of hyaluronan biosynthetic process	24251095

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Gene structures and expression levels for CLTC

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.

ENSG00000141367

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 CLTC

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_139929	chr17	59682907:59683014:59683095:59683262:59683387:59683536	59683095:59683262
exon_skip_161043	chr17	59685775:59685808:59687001:59687021:59690636:59690711	59687001:59687021
exon_skip_161939	chr17	59648240:59648401:59651203:59651316:59655854:59656027	59651203:59651316
exon_skip_173567	chr17	59683906:59683985:59685056:59685226:59685587:59685631	59685056:59685226
exon_skip_174445	chr17	59685587:59685808:59687001:59687021:59690636:59690711	59687001:59687021
exon_skip_205195	chr17	59651203:59651316:59655854:59656027:59660391:59660588	59655854:59656027
exon_skip_230295	chr17	59683906:59683985:59685056:59685226:59685587:59685808	59685056:59685226
exon_skip_234524	chr17	59644276:59644483:59647398:59647666:59648240:59648401	59647398:59647666
exon_skip_236762	chr17	59619943:59620173:59644276:59644483:59647398:59647447	59644276:59644483
exon_skip_292704	chr17	59651249:59651316:59655854:59656027:59660391:59660588	59655854:59656027
exon_skip_45861	chr17	59644276:59644483:59647398:59647666:59648240:59648260	59647398:59647666
exon_skip_50785	chr17	59619943:59620173:59644276:59644495:59647398:59647447	59644276:59644495
exon_skip_72636	chr17	59661443:59661643:59663842:59663994:59664787:59664909	59663842:59663994
exon_skip_76286	chr17	59685587:59685808:59690636:59690711:59693728:59693822	59690636:59690711
exon_skip_78006	chr17	59651203:59651316:59655854:59656027:59660391:59660477	59655854:59656027

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 CLTC

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
ENST00000269122	59647398	59647666	Frame-shift
ENST00000269122	59690636	59690711	Frame-shift
ENST00000269122	59651203	59651316	In-frame
ENST00000269122	59655854	59656027	In-frame
ENST00000269122	59663842	59663994	In-frame
ENST00000269122	59683095	59683262	In-frame
ENST00000269122	59685056	59685226	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
ENST00000269122	59651203	59651316	In-frame
ENST00000269122	59655854	59656027	In-frame
ENST00000269122	59663842	59663994	In-frame
ENST00000269122	59685056	59685226	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
ENST00000269122	59644276	59644483	Frame-shift
ENST00000269122	59647398	59647666	Frame-shift
ENST00000269122	59690636	59690711	Frame-shift
ENST00000269122	59651203	59651316	In-frame
ENST00000269122	59655854	59656027	In-frame
ENST00000269122	59663842	59663994	In-frame
ENST00000269122	59685056	59685226	In-frame

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

p-ENSG00000141367_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
ENST00000269122	7777	1675	59651203	59651316	957	1069	227	265
ENST00000269122	7777	1675	59655854	59656027	1071	1243	265	323
ENST00000269122	7777	1675	59663842	59663994	1644	1795	456	507
ENST00000269122	7777	1675	59683095	59683262	4149	4315	1291	1347
ENST00000269122	7777	1675	59685056	59685226	4710	4879	1478	1535

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
ENST00000269122	7777	1675	59651203	59651316	957	1069	227	265
ENST00000269122	7777	1675	59655854	59656027	1071	1243	265	323
ENST00000269122	7777	1675	59663842	59663994	1644	1795	456	507
ENST00000269122	7777	1675	59685056	59685226	4710	4879	1478	1535

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
ENST00000269122	7777	1675	59651203	59651316	957	1069	227	265
ENST00000269122	7777	1675	59655854	59656027	1071	1243	265	323
ENST00000269122	7777	1675	59663842	59663994	1644	1795	456	507
ENST00000269122	7777	1675	59685056	59685226	4710	4879	1478	1535

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
Q00610	227	265	225	232	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	227	265	246	250	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	227	265	261	267	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	227	265	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	227	265	2	479	Region	Note=Globular terminal domain
Q00610	227	265	196	257	Region	Note=WD40-like repeat 5
Q00610	227	265	258	301	Region	Note=WD40-like repeat 6
Q00610	265	323	261	267	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	272	277	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	280	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	292	297	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	303	309	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	314	319	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	323	329	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	265	323	310	312	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	2	479	Region	Note=Globular terminal domain
Q00610	265	323	258	301	Region	Note=WD40-like repeat 6
Q00610	265	323	302	330	Region	Note=WD40-like repeat 7
Q00610	265	323	268	271	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	287	289	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	456	507	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	456	507	480	484	Mutagenesis	Note=Disrupts spindle localization and interaction with TACC3. LRANV->ERGQC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	481	481	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-487%2C E-500%2C E-506 and E-507. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	487	487	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-500%2C E-506 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	500	500	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-444%2C E-445%2C E-506 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	500	500	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-487%2C E-506 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	506	506	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-444%2C E-445%2C E-500 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	506	506	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-487%2C E-500 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	507	507	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-444%2C E-445%2C E-500 and E-506. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	507	507	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-487%2C E-500 and E-506. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	2	479	Region	Note=Globular terminal domain
Q00610	456	507	449	465	Region	Note=Binding site for the uncoating ATPase%2C involved in lattice disassembly;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q00610	456	507	457	507	Region	Note=Involved in spindle localization and interaction with TACC3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	480	523	Region	Note=Flexible linker
Q00610	1291	1347	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	1291	1347	1199	1675	Natural variant	ID=VAR_080725;Note=In MRD56. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100083;Dbxref=PMID:29100083
Q00610	1291	1347	524	1675	Region	Note=Heavy chain arm
Q00610	1291	1347	639	1675	Region	Note=Proximal segment
Q00610	1291	1347	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q00610	1291	1347	1274	1420	Repeat	Note=CHCR 6;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01006,ECO:0000269\|PubMed:21816279;Dbxref=PMID:21816279
Q00610	1478	1535	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	1478	1535	1487	1487	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FD5
Q00610	1478	1535	1494	1494	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19369195,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:19369195,PMID:23186163,PMID:24275569
Q00610	1478	1535	1501	1501	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q00610	1478	1535	1199	1675	Natural variant	ID=VAR_080725;Note=In MRD56. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100083;Dbxref=PMID:29100083
Q00610	1478	1535	524	1675	Region	Note=Heavy chain arm
Q00610	1478	1535	639	1675	Region	Note=Proximal segment
Q00610	1478	1535	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q00610	1478	1535	1423	1566	Repeat	Note=CHCR 7;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01006,ECO:0000269\|PubMed:21816279;Dbxref=PMID:21816279

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
Q00610	227	265	225	232	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	227	265	246	250	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	227	265	261	267	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	227	265	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	227	265	2	479	Region	Note=Globular terminal domain
Q00610	227	265	196	257	Region	Note=WD40-like repeat 5
Q00610	227	265	258	301	Region	Note=WD40-like repeat 6
Q00610	265	323	261	267	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	272	277	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	280	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	292	297	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	303	309	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	314	319	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	323	329	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	265	323	310	312	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	2	479	Region	Note=Globular terminal domain
Q00610	265	323	258	301	Region	Note=WD40-like repeat 6
Q00610	265	323	302	330	Region	Note=WD40-like repeat 7
Q00610	265	323	268	271	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	287	289	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	456	507	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	456	507	480	484	Mutagenesis	Note=Disrupts spindle localization and interaction with TACC3. LRANV->ERGQC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	481	481	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-487%2C E-500%2C E-506 and E-507. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	487	487	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-500%2C E-506 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	500	500	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-444%2C E-445%2C E-506 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	500	500	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-487%2C E-506 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	506	506	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-444%2C E-445%2C E-500 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	506	506	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-487%2C E-500 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	507	507	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-444%2C E-445%2C E-500 and E-506. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	507	507	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-487%2C E-500 and E-506. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	2	479	Region	Note=Globular terminal domain
Q00610	456	507	449	465	Region	Note=Binding site for the uncoating ATPase%2C involved in lattice disassembly;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q00610	456	507	457	507	Region	Note=Involved in spindle localization and interaction with TACC3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	480	523	Region	Note=Flexible linker
Q00610	1478	1535	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	1478	1535	1487	1487	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FD5
Q00610	1478	1535	1494	1494	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19369195,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:19369195,PMID:23186163,PMID:24275569
Q00610	1478	1535	1501	1501	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q00610	1478	1535	1199	1675	Natural variant	ID=VAR_080725;Note=In MRD56. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100083;Dbxref=PMID:29100083
Q00610	1478	1535	524	1675	Region	Note=Heavy chain arm
Q00610	1478	1535	639	1675	Region	Note=Proximal segment
Q00610	1478	1535	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q00610	1478	1535	1423	1566	Repeat	Note=CHCR 7;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01006,ECO:0000269\|PubMed:21816279;Dbxref=PMID:21816279

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
Q00610	227	265	225	232	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	227	265	246	250	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	227	265	261	267	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	227	265	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	227	265	2	479	Region	Note=Globular terminal domain
Q00610	227	265	196	257	Region	Note=WD40-like repeat 5
Q00610	227	265	258	301	Region	Note=WD40-like repeat 6
Q00610	265	323	261	267	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	272	277	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	280	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	292	297	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	303	309	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	314	319	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	323	329	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	265	323	310	312	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	2	479	Region	Note=Globular terminal domain
Q00610	265	323	258	301	Region	Note=WD40-like repeat 6
Q00610	265	323	302	330	Region	Note=WD40-like repeat 7
Q00610	265	323	268	271	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	265	323	287	289	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4G55
Q00610	456	507	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	456	507	480	484	Mutagenesis	Note=Disrupts spindle localization and interaction with TACC3. LRANV->ERGQC;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	481	481	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-487%2C E-500%2C E-506 and E-507. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	487	487	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-500%2C E-506 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	500	500	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-444%2C E-445%2C E-506 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	500	500	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-487%2C E-506 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	506	506	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-444%2C E-445%2C E-500 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	506	506	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-487%2C E-500 and E-507. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	507	507	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-444%2C E-445%2C E-500 and E-506. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	507	507	Mutagenesis	Note=Disrupts spindle localization%3B when associated with E-481%2C E-487%2C E-500 and E-506. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	2	479	Region	Note=Globular terminal domain
Q00610	456	507	449	465	Region	Note=Binding site for the uncoating ATPase%2C involved in lattice disassembly;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q00610	456	507	457	507	Region	Note=Involved in spindle localization and interaction with TACC3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23918938;Dbxref=PMID:23918938
Q00610	456	507	480	523	Region	Note=Flexible linker
Q00610	1478	1535	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	1478	1535	1487	1487	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FD5
Q00610	1478	1535	1494	1494	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19369195,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:19369195,PMID:23186163,PMID:24275569
Q00610	1478	1535	1501	1501	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q00610	1478	1535	1199	1675	Natural variant	ID=VAR_080725;Note=In MRD56. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100083;Dbxref=PMID:29100083
Q00610	1478	1535	524	1675	Region	Note=Heavy chain arm
Q00610	1478	1535	639	1675	Region	Note=Proximal segment
Q00610	1478	1535	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q00610	1478	1535	1423	1566	Repeat	Note=CHCR 7;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01006,ECO:0000269\|PubMed:21816279;Dbxref=PMID:21816279

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

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 CLTC

- 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 CLTC

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 CLTC

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 CLTC

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	EWSR1	exon_skip_174445	-4.116118e-01	7.040142e-08
DLPFC	KHDRBS2	exon_skip_174445	-5.913089e-01	1.007230e-33
DLPFC	KHDRBS3	exon_skip_174445	-4.017276e-01	9.826180e-15
FL	KHDRBS3	exon_skip_174445	-4.769809e-01	1.061543e-12
HCC	RBM5	exon_skip_174445	4.646087e-01	5.042030e-16
HCC	KHDRBS3	exon_skip_174445	4.364282e-01	4.019949e-14
HCC	EWSR1	exon_skip_174445	4.381691e-01	3.102911e-14
IFG	KHDRBS2	exon_skip_174445	-4.317070e-01	2.179378e-02
PG	KHDRBS2	exon_skip_174445	-4.033924e-01	1.527534e-09
PG	KHDRBS3	exon_skip_174445	-4.881476e-01	7.480623e-14
STG	KHDRBS3	exon_skip_174445	-4.306132e-01	1.643911e-05
TC	ILF2	exon_skip_161043	-4.631769e-01	6.948001e-10
TC	KHDRBS2	exon_skip_161043	-7.290231e-01	8.408745e-28
TC	KHDRBS3	exon_skip_161043	-7.540654e-01	1.193563e-30
TC	NUP42	exon_skip_161043	-5.546417e-01	2.746933e-14
TC	SRSF9	exon_skip_161043	-5.125418e-01	4.254213e-12

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RelatedDrugs for CLTC

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 CLTC

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 CLTC

Gene structures and expression levels for CLTC

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

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

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

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

SNVs in the skipped exons for CLTC

AD stage-associated exon skippint events for CLTC

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

Correlation with RNA binding proteins (RBPs) for CLTC

RelatedDrugs for CLTC

RelatedDiseases for CLTC