ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CLTCL1

Gene summary

Gene information	Gene symbol	CLTCL1
	Gene ID	8218
	Gene name	clathrin heavy chain like 1
	Synonyms	CHC22\|CLH22\|CLTCL\|CLTD
	Cytomap	22q11.21
	Type of gene	protein-coding
	Description	clathrin heavy chain 2CLH-22Clathrin, heavy polypeptide Dclathrin heavy chain on chromosome 22clathrin, heavy polypeptide-like 1
	Modification date	20180523
	UniProtAcc	P53675
	Context	PubMed: CLTCL1 [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
CLTCL1	GO:0000278	mitotic cell cycle	19509056
CLTCL1	GO:0000278	mitotic cell cycle	20065094
CLTCL1	GO:0006898	receptor-mediated endocytosis	19509056

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Exon skipping events across known transcript of Ensembl for CLTCL1 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 CLTCL1

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 CLTCL1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_367437	22	19167287:19167482:19167711:19167751:19168243:19168319	19167711:19167751	ENSG00000070371.11	ENST00000263200.10,ENST00000442042.2,ENST00000536806.1,ENST00000412649.1,ENST00000427926.1,ENST00000353891.5
exon_skip_367440	22	19168245:19168319:19170902:19171124:19175069:19175240	19170902:19171124	ENSG00000070371.11	ENST00000263200.10,ENST00000505027.2,ENST00000413132.2,ENST00000536806.1,ENST00000427926.1
exon_skip_367442	22	19170988:19171124:19171908:19172049:19175069:19175180	19171908:19172049	ENSG00000070371.11	ENST00000538828.1
exon_skip_367444	22	19170988:19171124:19175069:19175240:19175492:19175599	19175069:19175240	ENSG00000070371.11	ENST00000263200.10,ENST00000505027.2,ENST00000413132.2,ENST00000536806.1,ENST00000427926.1
exon_skip_367447	22	19170988:19171124:19175492:19175603:19178815:19178947	19175492:19175603	ENSG00000070371.11	ENST00000353891.5
exon_skip_367449	22	19183776:19183926:19183999:19184167:19187244:19187352	19183999:19184167	ENSG00000070371.11	ENST00000263200.10,ENST00000505027.2,ENST00000442042.2,ENST00000536806.1,ENST00000427926.1,ENST00000353891.5
exon_skip_367451	22	19187244:19187352:19188839:19189004:19195663:19195821	19188839:19189004	ENSG00000070371.11	ENST00000263200.10,ENST00000413132.2,ENST00000353891.5
exon_skip_367452	22	19187244:19187352:19188901:19189004:19195663:19195821	19188901:19189004	ENSG00000070371.11	ENST00000505027.2
exon_skip_367453	22	19211413:19211577:19212975:19213156:19213741:19213843	19212975:19213156	ENSG00000070371.11	ENST00000263200.10,ENST00000505027.2,ENST00000413132.2,ENST00000427926.1,ENST00000353891.5
exon_skip_367456	22	19222031:19222229:19223218:19223392:19226797:19226911	19223218:19223392	ENSG00000070371.11	ENST00000263200.10,ENST00000505027.2,ENST00000413132.2,ENST00000427926.1,ENST00000353891.5
exon_skip_367457	22	19223218:19223392:19226797:19226911:19230297:19230459	19226797:19226911	ENSG00000070371.11	ENST00000263200.10,ENST00000505027.2,ENST00000413132.2,ENST00000427926.1,ENST00000353891.5
exon_skip_367458	22	19241556:19241750:19245327:19245390:19263145:19263353	19245327:19245390	ENSG00000070371.11	ENST00000449918.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CLTCL1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_367437	22	19167287:19167482:19167711:19167751:19168243:19168319	19167711:19167751	ENSG00000070371.11	ENST00000353891.5,ENST00000263200.10,ENST00000412649.1,ENST00000442042.2,ENST00000427926.1,ENST00000536806.1
exon_skip_367440	22	19168245:19168319:19170902:19171124:19175069:19175240	19170902:19171124	ENSG00000070371.11	ENST00000263200.10,ENST00000427926.1,ENST00000536806.1,ENST00000413132.2,ENST00000505027.2
exon_skip_367442	22	19170988:19171124:19171908:19172049:19175069:19175180	19171908:19172049	ENSG00000070371.11	ENST00000538828.1
exon_skip_367444	22	19170988:19171124:19175069:19175240:19175492:19175599	19175069:19175240	ENSG00000070371.11	ENST00000263200.10,ENST00000427926.1,ENST00000536806.1,ENST00000413132.2,ENST00000505027.2
exon_skip_367447	22	19170988:19171124:19175492:19175603:19178815:19178947	19175492:19175603	ENSG00000070371.11	ENST00000353891.5
exon_skip_367449	22	19183776:19183926:19183999:19184167:19187244:19187352	19183999:19184167	ENSG00000070371.11	ENST00000353891.5,ENST00000263200.10,ENST00000442042.2,ENST00000427926.1,ENST00000536806.1,ENST00000505027.2
exon_skip_367451	22	19187244:19187352:19188839:19189004:19195663:19195821	19188839:19189004	ENSG00000070371.11	ENST00000353891.5,ENST00000263200.10,ENST00000413132.2
exon_skip_367452	22	19187244:19187352:19188901:19189004:19195663:19195821	19188901:19189004	ENSG00000070371.11	ENST00000505027.2
exon_skip_367453	22	19211413:19211577:19212975:19213156:19213741:19213843	19212975:19213156	ENSG00000070371.11	ENST00000353891.5,ENST00000263200.10,ENST00000427926.1,ENST00000413132.2,ENST00000505027.2
exon_skip_367456	22	19222031:19222229:19223218:19223392:19226797:19226911	19223218:19223392	ENSG00000070371.11	ENST00000353891.5,ENST00000263200.10,ENST00000427926.1,ENST00000413132.2,ENST00000505027.2
exon_skip_367457	22	19223218:19223392:19226797:19226911:19230297:19230459	19226797:19226911	ENSG00000070371.11	ENST00000353891.5,ENST00000263200.10,ENST00000427926.1,ENST00000413132.2,ENST00000505027.2
exon_skip_367458	22	19241556:19241750:19245327:19245390:19263145:19263353	19245327:19245390	ENSG00000070371.11	ENST00000449918.1

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 CLTCL1

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
ENST00000427926	19167711	19167751	5CDS-5UTR
ENST00000427926	19212975	19213156	Frame-shift
ENST00000427926	19170902	19171124	In-frame
ENST00000427926	19175069	19175240	In-frame
ENST00000427926	19183999	19184167	In-frame
ENST00000427926	19223218	19223392	In-frame
ENST00000427926	19226797	19226911	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
ENST00000427926	19167711	19167751	5CDS-5UTR
ENST00000427926	19212975	19213156	Frame-shift
ENST00000427926	19170902	19171124	In-frame
ENST00000427926	19175069	19175240	In-frame
ENST00000427926	19183999	19184167	In-frame
ENST00000427926	19223218	19223392	In-frame
ENST00000427926	19226797	19226911	In-frame

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Infer the effects of exon skipping event on protein functional features for CLTCL1

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
ENST00000427926	5529	1640	19226797	19226911	757	870	227	265
ENST00000427926	5529	1640	19223218	19223392	871	1044	265	323
ENST00000427926	5529	1640	19183999	19184167	3949	4116	1291	1347
ENST00000427926	5529	1640	19175069	19175240	4510	4680	1478	1535
ENST00000427926	5529	1640	19170902	19171124	4681	4902	1535	1609

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
ENST00000427926	5529	1640	19226797	19226911	757	870	227	265
ENST00000427926	5529	1640	19223218	19223392	871	1044	265	323
ENST00000427926	5529	1640	19183999	19184167	3949	4116	1291	1347
ENST00000427926	5529	1640	19175069	19175240	4510	4680	1478	1535
ENST00000427926	5529	1640	19170902	19171124	4681	4902	1535	1609

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
P53675	227	265	2	1640	Chain	ID=PRO_0000205786;Note=Clathrin heavy chain 2
P53675	227	265	2	479	Region	Note=Globular terminal domain
P53675	227	265	196	257	Region	Note=WD40-like repeat 5
P53675	227	265	258	301	Region	Note=WD40-like repeat 6
P53675	265	323	2	1640	Chain	ID=PRO_0000205786;Note=Clathrin heavy chain 2
P53675	265	323	279	279	Natural variant	ID=VAR_055655;Note=Y->C;Dbxref=dbSNP:rs807459
P53675	265	323	2	479	Region	Note=Globular terminal domain
P53675	265	323	258	301	Region	Note=WD40-like repeat 6
P53675	265	323	302	330	Region	Note=WD40-like repeat 7
P53675	265	323	320	320	Sequence conflict	Note=K->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P53675	1291	1347	2	1640	Chain	ID=PRO_0000205786;Note=Clathrin heavy chain 2
P53675	1291	1347	1316	1316	Natural variant	ID=VAR_059215;Note=M->V;Dbxref=dbSNP:rs1061325
P53675	1291	1347	524	1640	Region	Note=Heavy chain arm
P53675	1291	1347	639	1640	Region	Note=Proximal segment
P53675	1291	1347	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
P53675	1291	1347	1274	1420	Repeat	Note=CHCR 6
P53675	1478	1535	1479	1535	Alternative sequence	ID=VSP_001100;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:8733129,ECO:0000303\|PubMed:8844170;Dbxref=PMID:14702039,PMID:8733129,PMID:8844170
P53675	1478	1535	2	1640	Chain	ID=PRO_0000205786;Note=Clathrin heavy chain 2
P53675	1478	1535	1487	1487	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FD5
P53675	1478	1535	1494	1494	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q00610
P53675	1478	1535	1501	1501	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q00610
P53675	1478	1535	524	1640	Region	Note=Heavy chain arm
P53675	1478	1535	639	1640	Region	Note=Proximal segment
P53675	1478	1535	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
P53675	1478	1535	1423	1566	Repeat	Note=CHCR 7
P53675	1535	1609	1479	1535	Alternative sequence	ID=VSP_001100;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:8733129,ECO:0000303\|PubMed:8844170;Dbxref=PMID:14702039,PMID:8733129,PMID:8844170
P53675	1535	1609	2	1640	Chain	ID=PRO_0000205786;Note=Clathrin heavy chain 2
P53675	1535	1609	1592	1592	Natural variant	ID=VAR_059217;Note=V->M;Dbxref=dbSNP:rs2073738
P53675	1535	1609	524	1640	Region	Note=Heavy chain arm
P53675	1535	1609	639	1640	Region	Note=Proximal segment
P53675	1535	1609	1551	1640	Region	Note=Trimerization;Ontology_term=ECO:0000250;evidence=ECO:0000250
P53675	1535	1609	1423	1566	Repeat	Note=CHCR 7

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
P53675	227	265	2	1640	Chain	ID=PRO_0000205786;Note=Clathrin heavy chain 2
P53675	227	265	2	479	Region	Note=Globular terminal domain
P53675	227	265	196	257	Region	Note=WD40-like repeat 5
P53675	227	265	258	301	Region	Note=WD40-like repeat 6
P53675	265	323	2	1640	Chain	ID=PRO_0000205786;Note=Clathrin heavy chain 2
P53675	265	323	279	279	Natural variant	ID=VAR_055655;Note=Y->C;Dbxref=dbSNP:rs807459
P53675	265	323	2	479	Region	Note=Globular terminal domain
P53675	265	323	258	301	Region	Note=WD40-like repeat 6
P53675	265	323	302	330	Region	Note=WD40-like repeat 7
P53675	265	323	320	320	Sequence conflict	Note=K->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P53675	1291	1347	2	1640	Chain	ID=PRO_0000205786;Note=Clathrin heavy chain 2
P53675	1291	1347	1316	1316	Natural variant	ID=VAR_059215;Note=M->V;Dbxref=dbSNP:rs1061325
P53675	1291	1347	524	1640	Region	Note=Heavy chain arm
P53675	1291	1347	639	1640	Region	Note=Proximal segment
P53675	1291	1347	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
P53675	1291	1347	1274	1420	Repeat	Note=CHCR 6
P53675	1478	1535	1479	1535	Alternative sequence	ID=VSP_001100;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:8733129,ECO:0000303\|PubMed:8844170;Dbxref=PMID:14702039,PMID:8733129,PMID:8844170
P53675	1478	1535	2	1640	Chain	ID=PRO_0000205786;Note=Clathrin heavy chain 2
P53675	1478	1535	1487	1487	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q68FD5
P53675	1478	1535	1494	1494	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q00610
P53675	1478	1535	1501	1501	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q00610
P53675	1478	1535	524	1640	Region	Note=Heavy chain arm
P53675	1478	1535	639	1640	Region	Note=Proximal segment
P53675	1478	1535	1213	1522	Region	Note=Involved in binding clathrin light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
P53675	1478	1535	1423	1566	Repeat	Note=CHCR 7
P53675	1535	1609	1479	1535	Alternative sequence	ID=VSP_001100;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:8733129,ECO:0000303\|PubMed:8844170;Dbxref=PMID:14702039,PMID:8733129,PMID:8844170
P53675	1535	1609	2	1640	Chain	ID=PRO_0000205786;Note=Clathrin heavy chain 2
P53675	1535	1609	1592	1592	Natural variant	ID=VAR_059217;Note=V->M;Dbxref=dbSNP:rs2073738
P53675	1535	1609	524	1640	Region	Note=Heavy chain arm
P53675	1535	1609	639	1640	Region	Note=Proximal segment
P53675	1535	1609	1551	1640	Region	Note=Trimerization;Ontology_term=ECO:0000250;evidence=ECO:0000250
P53675	1535	1609	1423	1566	Repeat	Note=CHCR 7

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SNVs in the skipped exons for CLTCL1

- 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
HNSC	TCGA-QK-A8Z8-01		19184000	19184167	19184057	19184057	Frame_Shift_Del	C	-	p.K1328fs
LIHC	TCGA-G3-A3CJ-01		19184000	19184167	19184131	19184131	Frame_Shift_Del	C	-	p.E1304fs
LIHC	TCGA-DD-A1EG-01	exon_skip_367457	19226798	19226911	19226837	19226837	Frame_Shift_Del	A	-	p.F252fs
LIHC	TCGA-DD-A39Y-01	exon_skip_367457	19226798	19226911	19226837	19226837	Frame_Shift_Del	A	-	p.F252fs
PRAD	TCGA-EJ-7782-01	exon_skip_367457	19226798	19226911	19226837	19226837	Frame_Shift_Del	A	-	p.F252fs
PRAD	TCGA-EJ-7782-01	exon_skip_367457	19226798	19226911	19226837	19226837	Frame_Shift_Del	A	-	p.P253fs
SKCM	TCGA-FR-A726-01	exon_skip_367451	19188840	19189004	19188847	19188847	Nonsense_Mutation	C	T	p.W1253*
LIHC	TCGA-DD-A1EG-01	exon_skip_367451	19188840	19189004	19189001	19189001	Nonsense_Mutation	C	A	p.G1202X
LIHC	TCGA-DD-A1EG-01	exon_skip_367452	19188902	19189004	19189001	19189001	Nonsense_Mutation	C	A	p.G1202X
CESC	TCGA-EA-A3HT-01	exon_skip_367453	19212976	19213156	19213066	19213066	Nonsense_Mutation	G	A	p.Q680*

- 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
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19212976	19213156	19213146	19213150	Frame_Shift_Del	TTGAC	-	p.VN652fs
KM12_LARGE_INTESTINE	19226798	19226911	19226837	19226837	Frame_Shift_Del	A	-	p.F252fs
MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19175493	19175603	19175513	19175514	In_Frame_Ins	-	CAG	p.1471_1472insL
KM12_LARGE_INTESTINE	19170903	19171124	19170916	19170916	Missense_Mutation	T	C	p.E1605G
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19170903	19171124	19170952	19170952	Missense_Mutation	T	C	p.D1593G
CAL39_VULVA	19170903	19171124	19170969	19170969	Missense_Mutation	C	A	p.W1587C
NCIH1155_LUNG	19170903	19171124	19171024	19171024	Missense_Mutation	C	T	p.C1569Y
HS606T_FIBROBLAST	19170903	19171124	19171027	19171027	Missense_Mutation	G	A	p.A1568V
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19170903	19171124	19171031	19171031	Missense_Mutation	C	T	p.A1567T
SNU81_LARGE_INTESTINE	19170903	19171124	19171097	19171097	Missense_Mutation	G	A	p.R1545W
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19170903	19171124	19171111	19171111	Missense_Mutation	T	C	p.H1540R
HS633T_SOFT_TISSUE	19175070	19175240	19175103	19175104	Missense_Mutation	GC	TA	p.S1524I
HMY1_SKIN	19175070	19175240	19175174	19175174	Missense_Mutation	T	C	p.K1501E
MDAMB231_BREAST	19175070	19175240	19175222	19175222	Missense_Mutation	C	T	p.D1485N
HCC2998_LARGE_INTESTINE	19175070	19175240	19175222	19175222	Missense_Mutation	C	T	p.D1485N
NCIH650_LUNG	19184000	19184167	19184070	19184070	Missense_Mutation	T	A	p.Y1324F
DETROIT562_UPPER_AERODIGESTIVE_TRACT	19184000	19184167	19184125	19184125	Missense_Mutation	C	A	p.A1306S
KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19188840	19189004	19188865	19188865	Missense_Mutation	G	T	p.A1247D
KMH2_THYROID	19188840	19189004	19188958	19188958	Missense_Mutation	A	G	p.L1216P
KMH2_THYROID	19188902	19189004	19188958	19188958	Missense_Mutation	A	G	p.L1216P
SNU175_LARGE_INTESTINE	19188840	19189004	19188965	19188965	Missense_Mutation	C	T	p.A1214T
SNU175_LARGE_INTESTINE	19188902	19189004	19188965	19188965	Missense_Mutation	C	T	p.A1214T
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19212976	19213156	19213004	19213004	Missense_Mutation	C	A	p.E700D
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19212976	19213156	19213015	19213015	Missense_Mutation	C	T	p.A697T
SNU466_CENTRAL_NERVOUS_SYSTEM	19212976	19213156	19213020	19213020	Missense_Mutation	G	A	p.T695M
TC106_BONE	19212976	19213156	19213059	19213059	Missense_Mutation	C	T	p.C682Y
LU135_LUNG	19212976	19213156	19213087	19213087	Missense_Mutation	C	T	p.A673T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19212976	19213156	19213098	19213098	Missense_Mutation	G	A	p.A669V
TM31_CENTRAL_NERVOUS_SYSTEM	19212976	19213156	19213116	19213116	Missense_Mutation	G	T	p.S663Y
SNU1040_LARGE_INTESTINE	19223219	19223392	19223298	19223298	Missense_Mutation	C	T	p.R297H
BE2M17_AUTONOMIC_GANGLIA	19223219	19223392	19223374	19223374	Missense_Mutation	C	G	p.V272L
SKNBE2_AUTONOMIC_GANGLIA	19223219	19223392	19223374	19223374	Missense_Mutation	C	G	p.V272L
SKMEL28_SKIN	19226798	19226911	19226836	19226836	Missense_Mutation	G	A	p.P253S
RKO_LARGE_INTESTINE	19184000	19184167	19184156	19184156	Nonsense_Mutation	G	T	p.Y1295*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CLTCL1

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 CLTCL1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CLTCL1

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RelatedDrugs for CLTCL1

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 CLTCL1

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 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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