ExonSkipDB: 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	20180523
	UniProtAcc	Q00610
	Context	PubMed: CLTC [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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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Exon skipping events across known transcript of Ensembl for CLTC from UCSC genome browser

Skipped exons in TCGA and GTEx 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.

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Gene isoform structures and expression levels for CLTC

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for CLTC

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_154861	17	57697303:57697534:57721636:57721844:57724758:57724808	57721636:57721844	ENSG00000141367.7	ENST00000579456.1,ENST00000269122.3
exon_skip_154862	17	57697303:57697534:57721636:57721856:57724758:57724808	57721636:57721856	ENSG00000141367.7	ENST00000580081.1
exon_skip_154865	17	57721642:57721844:57724758:57725027:57725600:57725762	57724758:57725027	ENSG00000141367.7	ENST00000269122.3,ENST00000393043.1
exon_skip_154867	17	57725600:57725762:57728563:57728677:57733214:57733388	57728563:57728677	ENSG00000141367.7	ENST00000269122.3,ENST00000472129.3,ENST00000393043.1
exon_skip_154870	17	57728563:57728677:57733214:57733388:57737751:57737838	57733214:57733388	ENSG00000141367.7	ENST00000269122.3,ENST00000393043.1
exon_skip_154871	17	57733321:57733388:57736022:57736165:57737751:57737838	57736022:57736165	ENSG00000141367.7	ENST00000483176.2
exon_skip_154874	17	57738803:57739004:57741202:57741355:57742147:57742270	57741202:57741355	ENSG00000141367.7	ENST00000269122.3,ENST00000393043.1
exon_skip_154875	17	57743463:57743601:57743840:57744005:57744157:57744338	57743840:57744005	ENSG00000141367.7	ENST00000269122.3,ENST00000393043.1,ENST00000466513.1
exon_skip_154876	17	57759007:57759200:57759631:57759789:57759989:57760154	57759631:57759789	ENSG00000141367.7	ENST00000269122.3,ENST00000393043.1
exon_skip_154877	17	57759678:57759789:57759989:57760154:57760267:57760375	57759989:57760154	ENSG00000141367.7	ENST00000579456.1,ENST00000269122.3,ENST00000393043.1
exon_skip_154878	17	57760267:57760375:57760455:57760623:57760747:57760897	57760455:57760623	ENSG00000141367.7	ENST00000579456.1,ENST00000269122.3,ENST00000393043.1
exon_skip_154879	17	57761074:57761117:57761235:57761346:57762416:57762587	57761235:57761346	ENSG00000141367.7	ENST00000579456.1,ENST00000269122.3,ENST00000393043.1
exon_skip_154881	17	57761266:57761346:57762416:57762587:57762947:57763169	57762416:57762587	ENSG00000141367.7	ENST00000579456.1,ENST00000269122.3,ENST00000393043.1,ENST00000472651.1
exon_skip_154883	17	57763075:57763169:57764361:57764382:57767996:57768072	57764361:57764382	ENSG00000141367.7	ENST00000472651.1
exon_skip_154884	17	57762947:57763169:57767996:57768072:57771088:57771183	57767996:57768072	ENSG00000141367.7	ENST00000579456.1,ENST00000269122.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CLTC

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_154861	17	57697303:57697534:57721636:57721844:57724758:57724808	57721636:57721844	ENSG00000141367.7	ENST00000269122.3,ENST00000579456.1
exon_skip_154862	17	57697303:57697534:57721636:57721856:57724758:57724808	57721636:57721856	ENSG00000141367.7	ENST00000580081.1
exon_skip_154865	17	57721642:57721844:57724758:57725027:57725600:57725762	57724758:57725027	ENSG00000141367.7	ENST00000393043.1,ENST00000269122.3
exon_skip_154867	17	57725600:57725762:57728563:57728677:57733214:57733388	57728563:57728677	ENSG00000141367.7	ENST00000393043.1,ENST00000269122.3,ENST00000472129.3
exon_skip_154870	17	57728563:57728677:57733214:57733388:57737751:57737838	57733214:57733388	ENSG00000141367.7	ENST00000393043.1,ENST00000269122.3
exon_skip_154871	17	57733321:57733388:57736022:57736165:57737751:57737838	57736022:57736165	ENSG00000141367.7	ENST00000483176.2
exon_skip_154874	17	57738803:57739004:57741202:57741355:57742147:57742270	57741202:57741355	ENSG00000141367.7	ENST00000393043.1,ENST00000269122.3
exon_skip_154875	17	57743463:57743601:57743840:57744005:57744157:57744338	57743840:57744005	ENSG00000141367.7	ENST00000393043.1,ENST00000269122.3,ENST00000466513.1
exon_skip_154876	17	57759007:57759200:57759631:57759789:57759989:57760154	57759631:57759789	ENSG00000141367.7	ENST00000393043.1,ENST00000269122.3
exon_skip_154877	17	57759678:57759789:57759989:57760154:57760267:57760375	57759989:57760154	ENSG00000141367.7	ENST00000393043.1,ENST00000269122.3,ENST00000579456.1
exon_skip_154878	17	57760267:57760375:57760455:57760623:57760747:57760897	57760455:57760623	ENSG00000141367.7	ENST00000393043.1,ENST00000269122.3,ENST00000579456.1
exon_skip_154879	17	57761074:57761117:57761235:57761346:57762416:57762587	57761235:57761346	ENSG00000141367.7	ENST00000393043.1,ENST00000269122.3,ENST00000579456.1
exon_skip_154881	17	57761266:57761346:57762416:57762587:57762947:57763169	57762416:57762587	ENSG00000141367.7	ENST00000393043.1,ENST00000269122.3,ENST00000579456.1,ENST00000472651.1
exon_skip_154883	17	57763075:57763169:57764361:57764382:57767996:57768072	57764361:57764382	ENSG00000141367.7	ENST00000472651.1
exon_skip_154884	17	57762947:57763169:57767996:57768072:57771088:57771183	57767996:57768072	ENSG00000141367.7	ENST00000269122.3,ENST00000579456.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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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 TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000269122	57721636	57721844	Frame-shift
ENST00000269122	57724758	57725027	Frame-shift
ENST00000269122	57759631	57759789	Frame-shift
ENST00000269122	57767996	57768072	Frame-shift
ENST00000269122	57728563	57728677	In-frame
ENST00000269122	57733214	57733388	In-frame
ENST00000269122	57741202	57741355	In-frame
ENST00000269122	57743840	57744005	In-frame
ENST00000269122	57759989	57760154	In-frame
ENST00000269122	57760455	57760623	In-frame
ENST00000269122	57761235	57761346	In-frame
ENST00000269122	57762416	57762587	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000269122	57721636	57721844	Frame-shift
ENST00000269122	57724758	57725027	Frame-shift
ENST00000269122	57759631	57759789	Frame-shift
ENST00000269122	57767996	57768072	Frame-shift
ENST00000269122	57728563	57728677	In-frame
ENST00000269122	57733214	57733388	In-frame
ENST00000269122	57741202	57741355	In-frame
ENST00000269122	57743840	57744005	In-frame
ENST00000269122	57759989	57760154	In-frame
ENST00000269122	57760455	57760623	In-frame
ENST00000269122	57761235	57761346	In-frame
ENST00000269122	57762416	57762587	In-frame

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

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA 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	57728563	57728677	956	1069	227	265
ENST00000269122	7777	1675	57733214	57733388	1070	1243	265	323
ENST00000269122	7777	1675	57741202	57741355	1643	1795	456	507
ENST00000269122	7777	1675	57743840	57744005	2057	2221	594	649
ENST00000269122	7777	1675	57759989	57760154	3875	4039	1200	1255
ENST00000269122	7777	1675	57760455	57760623	4148	4315	1291	1347
ENST00000269122	7777	1675	57761235	57761346	4598	4708	1441	1478
ENST00000269122	7777	1675	57762416	57762587	4709	4879	1478	1535

Loci of skipped exons in GTEx 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	57728563	57728677	956	1069	227	265
ENST00000269122	7777	1675	57733214	57733388	1070	1243	265	323
ENST00000269122	7777	1675	57741202	57741355	1643	1795	456	507
ENST00000269122	7777	1675	57743840	57744005	2057	2221	594	649
ENST00000269122	7777	1675	57759989	57760154	3875	4039	1200	1255
ENST00000269122	7777	1675	57760455	57760623	4148	4315	1291	1347
ENST00000269122	7777	1675	57761235	57761346	4598	4708	1441	1478
ENST00000269122	7777	1675	57762416	57762587	4709	4879	1478	1535

Lost protein functional features of individual exon skipping events in TCGA.

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	594	649	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	594	649	634	634	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q00610	594	649	524	1675	Region	Note=Heavy chain arm
Q00610	594	649	524	634	Region	Note=Distal segment
Q00610	594	649	639	1675	Region	Note=Proximal segment
Q00610	594	649	537	683	Repeat	Note=CHCR 1;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01006,ECO:0000269\|PubMed:21816279;Dbxref=PMID:21816279
Q00610	1200	1255	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	1200	1255	1206	1206	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FD5
Q00610	1200	1255	1229	1229	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q00610	1200	1255	1199	1675	Natural variant	ID=VAR_080725;Note=In MRD56. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100083;Dbxref=PMID:29100083
Q00610	1200	1255	1207	1207	Natural variant	ID=VAR_080726;Note=In MRD56%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100083;Dbxref=PMID:29100083
Q00610	1200	1255	524	1675	Region	Note=Heavy chain arm
Q00610	1200	1255	639	1675	Region	Note=Proximal segment
Q00610	1200	1255	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q00610	1200	1255	1128	1269	Repeat	Note=CHCR 5;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01006,ECO:0000269\|PubMed:21816279;Dbxref=PMID:21816279
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	1441	1478	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	1441	1478	1441	1441	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q00610	1441	1478	1441	1441	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FD5
Q00610	1441	1478	1477	1477	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q00610	1441	1478	1199	1675	Natural variant	ID=VAR_080725;Note=In MRD56. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100083;Dbxref=PMID:29100083
Q00610	1441	1478	524	1675	Region	Note=Heavy chain arm
Q00610	1441	1478	639	1675	Region	Note=Proximal segment
Q00610	1441	1478	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q00610	1441	1478	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
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 GTEx.

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	594	649	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	594	649	634	634	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q00610	594	649	524	1675	Region	Note=Heavy chain arm
Q00610	594	649	524	634	Region	Note=Distal segment
Q00610	594	649	639	1675	Region	Note=Proximal segment
Q00610	594	649	537	683	Repeat	Note=CHCR 1;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01006,ECO:0000269\|PubMed:21816279;Dbxref=PMID:21816279
Q00610	1200	1255	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	1200	1255	1206	1206	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FD5
Q00610	1200	1255	1229	1229	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q00610	1200	1255	1199	1675	Natural variant	ID=VAR_080725;Note=In MRD56. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100083;Dbxref=PMID:29100083
Q00610	1200	1255	1207	1207	Natural variant	ID=VAR_080726;Note=In MRD56%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100083;Dbxref=PMID:29100083
Q00610	1200	1255	524	1675	Region	Note=Heavy chain arm
Q00610	1200	1255	639	1675	Region	Note=Proximal segment
Q00610	1200	1255	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q00610	1200	1255	1128	1269	Repeat	Note=CHCR 5;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU01006,ECO:0000269\|PubMed:21816279;Dbxref=PMID:21816279
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	1441	1478	2	1675	Chain	ID=PRO_0000205778;Note=Clathrin heavy chain 1
Q00610	1441	1478	1441	1441	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q00610	1441	1478	1441	1441	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FD5
Q00610	1441	1478	1477	1477	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19690332;Dbxref=PMID:19690332
Q00610	1441	1478	1199	1675	Natural variant	ID=VAR_080725;Note=In MRD56. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100083;Dbxref=PMID:29100083
Q00610	1441	1478	524	1675	Region	Note=Heavy chain arm
Q00610	1441	1478	639	1675	Region	Note=Proximal segment
Q00610	1441	1478	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q00610	1441	1478	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
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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SNVs in the skipped exons for CLTC

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
UCS	TCGA-N6-A4V9-01	exon_skip_154861	57721637	57721844	57721737	57721737	Frame_Shift_Del	C	-	p.A48fs
UCS	TCGA-N6-A4V9-01	exon_skip_154862	57721637	57721856	57721737	57721737	Frame_Shift_Del	C	-	p.A48fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_154865	57724759	57725027	57724836	57724836	Frame_Shift_Del	T	-	p.F110fs
LIHC	TCGA-DD-A1EG-01	exon_skip_154865	57724759	57725027	57724862	57724862	Frame_Shift_Del	G	-	p.T118fs
LIHC	TCGA-DD-A39Y-01	exon_skip_154874	57741203	57741355	57741339	57741339	Frame_Shift_Del	T	-	p.V502fs
STAD	TCGA-CG-4477-01	exon_skip_154875	57743841	57744005	57743978	57743978	Frame_Shift_Del	G	-	p.V640fs
STAD	TCGA-CG-4477-01	exon_skip_154875	57743841	57744005	57743978	57743978	Frame_Shift_Del	G	-	p.V644fs
COAD	TCGA-A6-5665-01	exon_skip_154877	57759990	57760154	57760012	57760012	Frame_Shift_Del	A	-	p.E1208fs
LIHC	TCGA-DD-A39Y-01	exon_skip_154877	57759990	57760154	57760012	57760012	Frame_Shift_Del	A	-	p.E1208fs
KIRP	TCGA-GL-A4EM-01	exon_skip_154877	57759990	57760154	57760151	57760152	Frame_Shift_Del	AG	-	p.1254_1254del
KIRP	TCGA-GL-A4EM-01	exon_skip_154877	57759990	57760154	57760151	57760152	Frame_Shift_Del	AG	-	p.K1258fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_154878	57760456	57760623	57760467	57760467	Frame_Shift_Del	T	-	p.Y1295fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_154879	57761236	57761346	57761321	57761321	Frame_Shift_Del	T	-	p.L1470fs
KIRC	TCGA-CJ-4923-01	exon_skip_154881	57762417	57762587	57762458	57762458	Frame_Shift_Del	T	-	p.N1492fs
KIRC	TCGA-AS-3778-01	exon_skip_154870	57733215	57733388	57733326	57733327	Frame_Shift_Ins	-	T	p.F303fs
KIRC	TCGA-AS-3778-01	exon_skip_154870	57733215	57733388	57733326	57733327	Frame_Shift_Ins	-	T	p.I303fs
COAD	TCGA-AZ-4315-01	exon_skip_154876	57759632	57759789	57759751	57759751	Nonsense_Mutation	G	T	p.E1188X
UCEC	TCGA-BS-A0UF-01	exon_skip_154877	57759990	57760154	57760152	57760152	Nonsense_Mutation	G	T	p.E1255*
UCEC	TCGA-AP-A059-01	exon_skip_154867	57728564	57728677	57728563	57728563	Splice_Site	G	A	e5-1

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- 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
EN_ENDOMETRIUM	57759990	57760154	57760011	57760012	Frame_Shift_Ins	-	A	p.E1208fs
RXF393_KIDNEY	57721637	57721844	57721739	57721739	Missense_Mutation	C	A	p.Q49K
RXF393_KIDNEY	57721637	57721856	57721739	57721739	Missense_Mutation	C	A	p.Q49K
SNU1040_LARGE_INTESTINE	57724759	57725027	57724861	57724861	Missense_Mutation	C	T	p.T118M
MFE319_ENDOMETRIUM	57724759	57725027	57724974	57724974	Missense_Mutation	T	C	p.Y156H
HCC2218_BREAST	57733215	57733388	57733241	57733241	Missense_Mutation	C	G	p.F274L
MCC142_SKIN	57741203	57741355	57741261	57741261	Missense_Mutation	T	A	p.L476H
LS180_LARGE_INTESTINE	57741203	57741355	57741284	57741284	Missense_Mutation	G	A	p.V484I
AM38_CENTRAL_NERVOUS_SYSTEM	57743841	57744005	57743917	57743917	Missense_Mutation	C	T	p.A620V
NCIH1869_LUNG	57743841	57744005	57743930	57743930	Missense_Mutation	G	T	p.Q624H
HEC251_ENDOMETRIUM	57759632	57759789	57759675	57759675	Missense_Mutation	G	T	p.K1162N
BICR22_UPPER_AERODIGESTIVE_TRACT	57759632	57759789	57759711	57759711	Missense_Mutation	A	G	p.I1174M
MERO83_LUNG	57759632	57759789	57759761	57759761	Missense_Mutation	A	G	p.N1191S
HEC265_ENDOMETRIUM	57759990	57760154	57760013	57760013	Missense_Mutation	A	T	p.E1208D
HEC108_ENDOMETRIUM	57759990	57760154	57760045	57760045	Missense_Mutation	A	G	p.N1219S
JHUEM7_ENDOMETRIUM	57760456	57760623	57760562	57760562	Missense_Mutation	T	G	p.F1327C
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57761236	57761346	57761282	57761282	Missense_Mutation	A	G	p.N1457S
SNU81_LARGE_INTESTINE	57761236	57761346	57761320	57761320	Missense_Mutation	C	A	p.L1470I
HCC2998_LARGE_INTESTINE	57761236	57761346	57761324	57761324	Missense_Mutation	T	G	p.F1471C
PK1_PANCREAS	57762417	57762587	57762571	57762571	Missense_Mutation	A	G	p.K1530R
MCC13_SKIN	57767997	57768072	57768033	57768033	Missense_Mutation	G	A	p.E1622K
SKGT4_OESOPHAGUS	57760456	57760623	57760504	57760504	Nonsense_Mutation	G	T	p.G1308*
SNU1040_LARGE_INTESTINE	57762417	57762587	57762423	57762423	Nonsense_Mutation	C	T	p.R1481*
127399_SOFT_TISSUE	57759990	57760154	57759990	57759990	Splice_Site	G	T	p.V1201F
D341MED_CENTRAL_NERVOUS_SYSTEM	57759990	57760154	57759990	57759990	Splice_Site	G	T	p.V1201F
DMS53_LUNG	57759990	57760154	57759990	57759990	Splice_Site	G	T	p.V1201F
RH41_SOFT_TISSUE	57759990	57760154	57759990	57759990	Splice_Site	G	T	p.V1201F
NCIH1385_LUNG	57762417	57762587	57762586	57762586	Splice_Site	A	T	p.K1535M

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

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CLTC

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CLTC

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RelatedDrugs for CLTC

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

Gene

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
CLTC	C0079744	Diffuse Large B-Cell Lymphoma	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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