ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NCAN

Gene summary

Gene information	Gene symbol	NCAN
	Gene ID	1463
	Gene name	neurocan
	Synonyms	CSPG3
	Cytomap	19p13.11
	Type of gene	protein-coding
	Description	neurocan core proteinchondroitin sulfate proteoglycan 3 (neurocan)neurocan proteoglycan
	Modification date	20180523
	UniProtAcc	O14594
	Context	PubMed: NCAN [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

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Exon skipping events across known transcript of Ensembl for NCAN 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 NCAN

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 NCAN

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_304212	19	19327755:19327835:19329723:19330125:19334829:19335004	19329723:19330125	ENSG00000130287.9	ENST00000252575.6
exon_skip_304214	19	19335114:19335242:19335785:19336079:19337294:19337882	19335785:19336079	ENSG00000130287.9	ENST00000252575.6
exon_skip_304218	19	19337817:19337882:19338089:19339448:19344597:19344714	19338089:19339448	ENSG00000130287.9	ENST00000538881.1,ENST00000252575.6,ENST00000590187.2
exon_skip_304228	19	19344597:19344714:19345791:19345905:19349061:19349220	19345791:19345905	ENSG00000130287.9	ENST00000538881.1,ENST00000252575.6,ENST00000590187.2
exon_skip_304230	19	19351411:19351494:19356121:19356266:19359508:19359691	19356121:19356266	ENSG00000130287.9	ENST00000585410.1,ENST00000538881.1,ENST00000252575.6
exon_skip_304231	19	19351411:19351494:19356121:19356266:19360574:19360738	19356121:19356266	ENSG00000130287.9	ENST00000588231.1
exon_skip_304235	19	19356121:19356266:19359508:19359691:19360574:19360738	19359508:19359691	ENSG00000130287.9	ENST00000538881.1,ENST00000252575.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NCAN

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_304212	19	19327755:19327835:19329723:19330125:19334829:19335004	19329723:19330125	ENSG00000130287.9	ENST00000252575.6
exon_skip_304214	19	19335114:19335242:19335785:19336079:19337294:19337882	19335785:19336079	ENSG00000130287.9	ENST00000252575.6
exon_skip_304218	19	19337817:19337882:19338089:19339448:19344597:19344714	19338089:19339448	ENSG00000130287.9	ENST00000252575.6,ENST00000590187.2,ENST00000538881.1
exon_skip_304228	19	19344597:19344714:19345791:19345905:19349061:19349220	19345791:19345905	ENSG00000130287.9	ENST00000252575.6,ENST00000590187.2,ENST00000538881.1
exon_skip_304231	19	19351411:19351494:19356121:19356266:19360574:19360738	19356121:19356266	ENSG00000130287.9	ENST00000588231.1
exon_skip_304235	19	19356121:19356266:19359508:19359691:19360574:19360738	19359508:19359691	ENSG00000130287.9	ENST00000252575.6,ENST00000538881.1

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 NCAN

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
ENST00000252575	19356121	19356266	Frame-shift
ENST00000252575	19329723	19330125	In-frame
ENST00000252575	19335785	19336079	In-frame
ENST00000252575	19338089	19339448	In-frame
ENST00000252575	19345791	19345905	In-frame
ENST00000252575	19359508	19359691	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
ENST00000252575	19329723	19330125	In-frame
ENST00000252575	19335785	19336079	In-frame
ENST00000252575	19338089	19339448	In-frame
ENST00000252575	19345791	19345905	In-frame
ENST00000252575	19359508	19359691	In-frame

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

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
ENST00000252575	6404	1321	19329723	19330125	173	574	24	158
ENST00000252575	6404	1321	19335785	19336079	878	1171	259	357
ENST00000252575	6404	1321	19338089	19339448	1760	3118	553	1006
ENST00000252575	6404	1321	19345791	19345905	3236	3349	1045	1083
ENST00000252575	6404	1321	19359508	19359691	3737	3919	1212	1273

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
ENST00000252575	6404	1321	19329723	19330125	173	574	24	158
ENST00000252575	6404	1321	19335785	19336079	878	1171	259	357
ENST00000252575	6404	1321	19338089	19339448	1760	3118	553	1006
ENST00000252575	6404	1321	19345791	19345905	3236	3349	1045	1083
ENST00000252575	6404	1321	19359508	19359691	3737	3919	1212	1273

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
O14594	24	158	23	1321	Chain	ID=PRO_0000017516;Note=Neurocan core protein
O14594	24	158	59	140	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	24	158	38	153	Domain	Note=Ig-like V-type
O14594	24	158	122	122	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14594	24	158	70	70	Natural variant	ID=VAR_024521;Note=A->T;Dbxref=dbSNP:rs2228601
O14594	24	158	92	92	Natural variant	ID=VAR_020213;Note=P->S;Dbxref=dbSNP:rs2228603
O14594	259	357	23	1321	Chain	ID=PRO_0000017516;Note=Neurocan core protein
O14594	259	357	280	355	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	259	357	304	325	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	259	357	259	357	Domain	Note=Link 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00323
O14594	259	357	340	340	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14594	553	1006	23	1321	Chain	ID=PRO_0000017516;Note=Neurocan core protein
O14594	553	1006	708	712	Region	Note=O-glycosylated at one site
O14594	1045	1083	23	1321	Chain	ID=PRO_0000017516;Note=Neurocan core protein
O14594	1045	1083	1050	1061	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	1045	1083	1055	1070	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	1045	1083	1072	1081	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	1045	1083	1046	1082	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O14594	1212	1273	23	1321	Chain	ID=PRO_0000017516;Note=Neurocan core protein
O14594	1212	1273	1215	1258	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	1212	1273	1244	1271	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	1212	1273	1084	1213	Domain	Note=C-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00040
O14594	1212	1273	1213	1273	Domain	Note=Sushi;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
O14594	1212	1273	1223	1223	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14594	1212	1273	1254	1254	Natural variant	ID=VAR_016176;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9795216;Dbxref=dbSNP:rs1064389,PMID:9795216
O14594	1212	1273	1234	1234	Sequence conflict	Note=Y->N;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
O14594	24	158	23	1321	Chain	ID=PRO_0000017516;Note=Neurocan core protein
O14594	24	158	59	140	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	24	158	38	153	Domain	Note=Ig-like V-type
O14594	24	158	122	122	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14594	24	158	70	70	Natural variant	ID=VAR_024521;Note=A->T;Dbxref=dbSNP:rs2228601
O14594	24	158	92	92	Natural variant	ID=VAR_020213;Note=P->S;Dbxref=dbSNP:rs2228603
O14594	259	357	23	1321	Chain	ID=PRO_0000017516;Note=Neurocan core protein
O14594	259	357	280	355	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	259	357	304	325	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	259	357	259	357	Domain	Note=Link 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00323
O14594	259	357	340	340	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14594	553	1006	23	1321	Chain	ID=PRO_0000017516;Note=Neurocan core protein
O14594	553	1006	708	712	Region	Note=O-glycosylated at one site
O14594	1045	1083	23	1321	Chain	ID=PRO_0000017516;Note=Neurocan core protein
O14594	1045	1083	1050	1061	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	1045	1083	1055	1070	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	1045	1083	1072	1081	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	1045	1083	1046	1082	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O14594	1212	1273	23	1321	Chain	ID=PRO_0000017516;Note=Neurocan core protein
O14594	1212	1273	1215	1258	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	1212	1273	1244	1271	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
O14594	1212	1273	1084	1213	Domain	Note=C-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00040
O14594	1212	1273	1213	1273	Domain	Note=Sushi;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
O14594	1212	1273	1223	1223	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
O14594	1212	1273	1254	1254	Natural variant	ID=VAR_016176;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9795216;Dbxref=dbSNP:rs1064389,PMID:9795216
O14594	1212	1273	1234	1234	Sequence conflict	Note=Y->N;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for NCAN

- 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
LIHC	TCGA-DD-A1EG-01	exon_skip_304212	19329724	19330125	19329754	19329754	Frame_Shift_Del	G	-	p.R35fs
LIHC	TCGA-DD-A3A0-01	exon_skip_304212	19329724	19330125	19329859	19329859	Frame_Shift_Del	C	-	p.A70fs
ACC	TCGA-PK-A5HB-01	exon_skip_304218	19338090	19339448	19338131	19338131	Frame_Shift_Del	C	-	p.P569fs
ACC	TCGA-PK-A5HB-01	exon_skip_304218	19338090	19339448	19338131	19338131	Frame_Shift_Del	C	-	p.W567fs
STAD	TCGA-BR-4201-01	exon_skip_304218	19338090	19339448	19338279	19338279	Frame_Shift_Del	C	-	p.A617fs
STAD	TCGA-HU-A4GQ-01	exon_skip_304218	19338090	19339448	19338279	19338279	Frame_Shift_Del	C	-	p.A617fs
LIHC	TCGA-DD-A39Y-01	exon_skip_304218	19338090	19339448	19338372	19338372	Frame_Shift_Del	C	-	p.T648fs
LIHC	TCGA-DD-A1EG-01	exon_skip_304218	19338090	19339448	19338483	19338483	Frame_Shift_Del	C	-	p.T685fs
LIHC	TCGA-DD-A3A0-01	exon_skip_304218	19338090	19339448	19338819	19338819	Frame_Shift_Del	C	-	p.A797fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_304218	19338090	19339448	19338832	19338832	Frame_Shift_Del	C	-	p.S801fs
LIHC	TCGA-DD-A3A0-01	exon_skip_304218	19338090	19339448	19339422	19339422	Frame_Shift_Del	C	-	p.T998fs
LIHC	TCGA-DD-A3A0-01	exon_skip_304228	19345792	19345905	19345884	19345884	Frame_Shift_Del	G	-	p.G1078fs
LIHC	TCGA-DD-A1EG-01	exon_skip_304231 exon_skip_304230	19356122	19356266	19356125	19356125	Frame_Shift_Del	T	-	p.F1166fs
STAD	TCGA-FP-A4BE-01	exon_skip_304235	19359509	19359691	19359520	19359520	Frame_Shift_Del	C	-	p.G1216fs
STAD	TCGA-FP-A4BE-01	exon_skip_304235	19359509	19359691	19359520	19359520	Frame_Shift_Del	C	-	p.P1217fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_304235	19359509	19359691	19359552	19359552	Frame_Shift_Del	C	-	p.I1227fs
STAD	TCGA-BR-4292-01	exon_skip_304218	19338090	19339448	19338309	19338310	Frame_Shift_Ins	-	C	p.S627fs
LUAD	TCGA-50-5946-01	exon_skip_304218	19338090	19339448	19338836	19338836	Nonsense_Mutation	G	T	p.G803*
LUAD	TCGA-69-7765-01	exon_skip_304218	19338090	19339448	19339151	19339151	Nonsense_Mutation	C	T	p.Q908*
BLCA	TCGA-K4-A3WS-01	exon_skip_304218	19338090	19339448	19339266	19339266	Nonsense_Mutation	C	G	p.S946*
SKCM	TCGA-D9-A6EA-06	exon_skip_304218	19338090	19339448	19339381	19339381	Nonsense_Mutation	G	A	p.W984*
LUSC	TCGA-66-2742-01	exon_skip_304228	19345792	19345905	19345811	19345811	Nonsense_Mutation	C	A	p.C1052*
BLCA	TCGA-DK-A1AC-01	exon_skip_304235	19359509	19359691	19359535	19359535	Nonsense_Mutation	G	T	p.E1222*
LIHC	TCGA-EP-A2KB-01	exon_skip_304235	19359509	19359691	19359573	19359573	Nonsense_Mutation	C	A	p.Y1234*
LIHC	TCGA-EP-A2KB-01	exon_skip_304235	19359509	19359691	19359573	19359573	Nonsense_Mutation	C	A	p.Y1234X
UCEC	TCGA-AP-A056-01	exon_skip_304235	19359509	19359691	19359640	19359640	Nonsense_Mutation	C	T	p.R1257*
SKCM	TCGA-EB-A3XB-01	exon_skip_304235	19359509	19359691	19359662	19359662	Nonsense_Mutation	G	A	p.W1264*
SKCM	TCGA-EB-A3XB-01	exon_skip_304235	19359509	19359691	19359662	19359662	Nonsense_Mutation	G	A	p.W1264X
UCEC	TCGA-DI-A0WH-01	exon_skip_304231 exon_skip_304230	19356122	19356266	19356268	19356268	Splice_Site	T	C	e12+2
UCEC	TCGA-DI-A0WH-01	exon_skip_304231 exon_skip_304230	19356122	19356266	19356268	19356268	Splice_Site	T	C	p.V1213_splice

- 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
C33A_CERVIX	19338090	19339448	19338819	19338819	Frame_Shift_Del	C	-	p.A797fs
IGR39_SKIN	19329724	19330125	19329750	19329750	Missense_Mutation	G	A	p.E34K
IGR37_SKIN	19329724	19330125	19329750	19329750	Missense_Mutation	G	A	p.E34K
IPC298_SKIN	19329724	19330125	19329799	19329799	Missense_Mutation	C	T	p.A50V
HEC265_ENDOMETRIUM	19329724	19330125	19329849	19329849	Missense_Mutation	C	A	p.P67T
CORL24_LUNG	19329724	19330125	19329864	19329864	Missense_Mutation	G	C	p.D72H
TTC442_SOFT_TISSUE	19329724	19330125	19329874	19329874	Missense_Mutation	G	A	p.R75Q
MCC13_SKIN	19329724	19330125	19329975	19329976	Missense_Mutation	GG	AA	p.G109K
MCC13_SKIN	19329724	19330125	19329975	19329975	Missense_Mutation	G	A	p.G109R
MCC13_SKIN	19329724	19330125	19329976	19329976	Missense_Mutation	G	A	p.G109E
CCK81_LARGE_INTESTINE	19329724	19330125	19329990	19329990	Missense_Mutation	C	T	p.P114S
HEC108_ENDOMETRIUM	19329724	19330125	19330021	19330021	Missense_Mutation	C	T	p.T124M
SN12C_KIDNEY	19329724	19330125	19330066	19330066	Missense_Mutation	G	C	p.R139P
MDAMB453_BREAST	19329724	19330125	19330089	19330089	Missense_Mutation	G	A	p.E147K
MKN7_STOMACH	19335786	19336079	19335837	19335837	Missense_Mutation	G	A	p.R277H
HCC33_LUNG	19335786	19336079	19336022	19336022	Missense_Mutation	G	A	p.A339T
GCT_SOFT_TISSUE	19338090	19339448	19338134	19338134	Missense_Mutation	C	T	p.P569S
FU97_STOMACH	19338090	19339448	19338264	19338264	Missense_Mutation	C	T	p.S612L
KNS62_LUNG	19338090	19339448	19338264	19338264	Missense_Mutation	C	T	p.S612L
K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19338090	19339448	19338311	19338311	Missense_Mutation	C	T	p.P628S
IGR39_SKIN	19338090	19339448	19338311	19338311	Missense_Mutation	C	T	p.P628S
IGR37_SKIN	19338090	19339448	19338311	19338311	Missense_Mutation	C	T	p.P628S
SNU1040_LARGE_INTESTINE	19338090	19339448	19338321	19338321	Missense_Mutation	C	T	p.P631L
SW48_LARGE_INTESTINE	19338090	19339448	19338338	19338338	Missense_Mutation	C	T	p.R637C
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19338090	19339448	19338350	19338350	Missense_Mutation	G	A	p.E641K
COLO800_SKIN	19338090	19339448	19338359	19338359	Missense_Mutation	C	G	p.L644V
OVK18_OVARY	19338090	19339448	19338377	19338377	Missense_Mutation	A	C	p.I650L
KYSE150_OESOPHAGUS	19338090	19339448	19338435	19338435	Missense_Mutation	C	T	p.P669L
AN3CA_ENDOMETRIUM	19338090	19339448	19338457	19338457	Missense_Mutation	G	T	p.K676N
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19338090	19339448	19338465	19338465	Missense_Mutation	C	A	p.S679Y
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19338090	19339448	19338468	19338468	Missense_Mutation	T	C	p.L680P
SW684_SOFT_TISSUE	19338090	19339448	19338477	19338477	Missense_Mutation	C	T	p.S683F
NCIH1563_LUNG	19338090	19339448	19338481	19338481	Missense_Mutation	G	C	p.L684F
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19338090	19339448	19338567	19338567	Missense_Mutation	C	T	p.P713L
LS180_LARGE_INTESTINE	19338090	19339448	19338603	19338603	Missense_Mutation	G	T	p.S725I
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19338090	19339448	19338604	19338604	Missense_Mutation	C	A	p.S725R
SAS_UPPER_AERODIGESTIVE_TRACT	19338090	19339448	19338615	19338615	Missense_Mutation	C	A	p.S729Y
JEG3_PLACENTA	19338090	19339448	19338702	19338702	Missense_Mutation	C	A	p.S758Y
MKN7_STOMACH	19338090	19339448	19338727	19338727	Missense_Mutation	C	A	p.S766R
RERFLCMS_LUNG	19338090	19339448	19338727	19338727	Missense_Mutation	C	A	p.S766R
HS819T_FIBROBLAST	19338090	19339448	19338746	19338746	Missense_Mutation	G	A	p.A773T
GB1_CENTRAL_NERVOUS_SYSTEM	19338090	19339448	19338891	19338891	Missense_Mutation	A	G	p.D821G
HCT15_LARGE_INTESTINE	19338090	19339448	19338912	19338912	Missense_Mutation	C	A	p.P828H
SNU520_STOMACH	19338090	19339448	19338976	19338976	Missense_Mutation	G	T	p.Q849H
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19338090	19339448	19339051	19339052	Missense_Mutation	GA	CT	p.T875S
NCIH69_LUNG	19338090	19339448	19339051	19339052	Missense_Mutation	GA	CT	p.T875S
MFE319_ENDOMETRIUM	19338090	19339448	19339085	19339085	Missense_Mutation	G	A	p.A886T
RPMI7951_SKIN	19338090	19339448	19339370	19339370	Missense_Mutation	G	A	p.E981K
MEWO_SKIN	19338090	19339448	19339425	19339425	Missense_Mutation	C	T	p.P999L
COLO792_SKIN	19356122	19356266	19356151	19356152	Missense_Mutation	GG	AA	p.D1175N
HEC6_ENDOMETRIUM	19359509	19359691	19359527	19359527	Missense_Mutation	C	T	p.P1219L
LC1SQSF_LUNG	19359509	19359691	19359625	19359625	Missense_Mutation	C	T	p.H1252Y
LC1SQ_LUNG	19359509	19359691	19359625	19359625	Missense_Mutation	C	T	p.H1252Y
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	19345792	19345905	19345838	19345838	Nonsense_Mutation	T	A	p.C1061*

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

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 NCAN

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

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RelatedDrugs for NCAN

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
	O14594	DB08818	Hyaluronic acid	Neurocan core protein	small molecule	approved\|vet_approved

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RelatedDiseases for NCAN

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
NCAN	C0005586	Bipolar Disorder	5	PSYGENET
NCAN	C0036341	Schizophrenia	3	PSYGENET
NCAN	C0005695	Bladder Neoplasm	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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