ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for HNRNPC

Gene summary

Gene information	Gene symbol	HNRNPC
	Gene ID	3183
	Gene name	heterogeneous nuclear ribonucleoprotein C (C1/C2)
	Synonyms	C1\|C2\|HNRNP\|HNRPC\|SNRPC
	Cytomap	14q11.2
	Type of gene	protein-coding
	Description	heterogeneous nuclear ribonucleoproteins C1/C2hnRNP C1/C2nuclear ribonucleoprotein particle C1 proteinnuclear ribonucleoprotein particle C2 protein
	Modification date	20180523
	UniProtAcc	P07910
	Context	PubMed: HNRNPC [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 HNRNPC 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 HNRNPC

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 HNRNPC

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_111139	14	21679451:21679465:21679564:21679722:21679968:21680082	21679564:21679722	ENSG00000092199.13	ENST00000555309.1,ENST00000555914.1
exon_skip_111141	14	21679451:21679465:21679564:21679725:21679968:21680082	21679564:21679725	ENSG00000092199.13	ENST00000557201.1,ENST00000554539.1,ENST00000320084.7,ENST00000554455.1,ENST00000420743.2,ENST00000553444.1,ENST00000556897.1,ENST00000556628.1,ENST00000557442.1,ENST00000555883.1,ENST00000430246.2,ENST00000553300.1,ENST00000557157.1,ENST00000449098.1,ENS
exon_skip_111144	14	21679968:21680082:21681118:21681276:21698477:21698525	21681118:21681276	ENSG00000092199.13	ENST00000555309.1,ENST00000554417.1,ENST00000557201.1,ENST00000556513.1,ENST00000554539.1,ENST00000320084.7,ENST00000554383.1,ENST00000555914.1,ENST00000554455.1,ENST00000420743.2,ENST00000556897.1,ENST00000556628.1,ENST00000430246.2,ENST00000553300.1,ENS
exon_skip_111148	14	21681263:21681276:21698477:21698525:21699116:21699231	21698477:21698525	ENSG00000092199.13	ENST00000555309.1,ENST00000557201.1,ENST00000556513.1,ENST00000320084.7,ENST00000554455.1,ENST00000420743.2,ENST00000555137.1,ENST00000555215.1,ENST00000556142.1
exon_skip_111149	14	21681263:21681276:21698477:21698525:21699155:21699186	21698477:21698525	ENSG00000092199.13	ENST00000554539.1,ENST00000554383.1,ENST00000555914.1,ENST00000556897.1,ENST00000554891.1,ENST00000555883.1,ENST00000430246.2,ENST00000553300.1,ENST00000557157.1,ENST00000553753.1,ENST00000449098.1,ENST00000336053.6,ENST00000554969.1
exon_skip_111178	14	21699155:21699231:21702111:21702388:21730759:21730836	21702111:21702388	ENSG00000092199.13	ENST00000420743.2,ENST00000556897.1,ENST00000430246.2
exon_skip_111179	14	21699155:21699231:21702111:21702388:21731469:21731495	21702111:21702388	ENSG00000092199.13	ENST00000555309.1,ENST00000556513.1,ENST00000554383.1,ENST00000555914.1,ENST00000554455.1,ENST00000553614.1,ENST00000557442.1,ENST00000555215.1,ENST00000553300.1,ENST00000553753.1,ENST00000554969.1
exon_skip_111180	14	21699161:21699231:21702111:21702388:21737456:21737548	21702111:21702388	ENSG00000092199.13	ENST00000557201.1,ENST00000555883.1,ENST00000556142.1,ENST00000449098.1
exon_skip_111181	14	21699161:21699231:21702111:21702410:21737456:21737638	21702111:21702410	ENSG00000092199.13	ENST00000320084.7
exon_skip_111194	14	21702377:21702388:21702927:21702990:21731469:21731495	21702927:21702990	ENSG00000092199.13	ENST00000554891.1
exon_skip_111198	14	21702377:21702388:21704531:21704619:21731469:21731495	21704531:21704619	ENSG00000092199.13	ENST00000555176.1,ENST00000556226.1,ENST00000555137.1
exon_skip_111201	14	21702377:21702388:21722705:21722752:21731469:21731495	21722705:21722752	ENSG00000092199.13	ENST00000557336.1
exon_skip_111202	14	21702377:21702388:21730759:21730927:21731469:21731495	21730759:21730927	ENSG00000092199.13	ENST00000420743.2
exon_skip_111214	14	21702377:21702388:21731469:21731495:21736781:21736810	21731469:21731495	ENSG00000092199.13	ENST00000554383.1,ENST00000555215.1
exon_skip_111215	14	21702377:21702388:21731469:21731495:21737456:21737548	21731469:21731495	ENSG00000092199.13	ENST00000555309.1,ENST00000554539.1,ENST00000555914.1,ENST00000554455.1,ENST00000553614.1,ENST00000556628.1,ENST00000557442.1,ENST00000553300.1,ENST00000553753.1
exon_skip_111218	14	21702377:21702388:21731469:21731741:21737456:21737548	21731469:21731741	ENSG00000092199.13	ENST00000557768.1
exon_skip_111230	14	21704531:21704619:21731469:21731495:21737456:21737548	21731469:21731495	ENSG00000092199.13	ENST00000556226.1,ENST00000555137.1
exon_skip_111245	14	21731469:21731495:21731825:21731988:21737456:21737548	21731825:21731988	ENSG00000092199.13	ENST00000556513.1,ENST00000557336.1,ENST00000420743.2,ENST00000554969.1
exon_skip_111248	14	21731469:21731495:21736781:21736827:21737456:21737548	21736781:21736827	ENSG00000092199.13	ENST00000554383.1,ENST00000554891.1,ENST00000555215.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for HNRNPC

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_111139	14	21679451:21679465:21679564:21679722:21679968:21680082	21679564:21679722	ENSG00000092199.13	ENST00000555914.1,ENST00000555309.1
exon_skip_111141	14	21679451:21679465:21679564:21679725:21679968:21680082	21679564:21679725	ENSG00000092199.13	ENST00000320084.7,ENST00000449098.1,ENST00000554969.1,ENST00000554455.1,ENST00000430246.2,ENST00000557442.1,ENST00000556628.1,ENST00000555883.1,ENST00000553444.1,ENST00000557201.1,ENST00000553300.1,ENST00000556897.1,ENST00000420743.2,ENST00000557157.1,ENS
exon_skip_111144	14	21679968:21680082:21681118:21681276:21698477:21698525	21681118:21681276	ENSG00000092199.13	ENST00000336053.6,ENST00000320084.7,ENST00000449098.1,ENST00000554969.1,ENST00000556142.1,ENST00000554455.1,ENST00000430246.2,ENST00000553753.1,ENST00000555914.1,ENST00000555309.1,ENST00000556628.1,ENST00000556513.1,ENST00000557201.1,ENST00000553300.1,ENS
exon_skip_111148	14	21681263:21681276:21698477:21698525:21699116:21699231	21698477:21698525	ENSG00000092199.13	ENST00000320084.7,ENST00000556142.1,ENST00000554455.1,ENST00000555309.1,ENST00000556513.1,ENST00000557201.1,ENST00000420743.2,ENST00000555215.1,ENST00000555137.1
exon_skip_111149	14	21681263:21681276:21698477:21698525:21699155:21699186	21698477:21698525	ENSG00000092199.13	ENST00000336053.6,ENST00000449098.1,ENST00000554969.1,ENST00000430246.2,ENST00000553753.1,ENST00000555914.1,ENST00000555883.1,ENST00000553300.1,ENST00000556897.1,ENST00000557157.1,ENST00000554539.1,ENST00000554383.1,ENST00000554891.1
exon_skip_111178	14	21699155:21699231:21702111:21702388:21730759:21730836	21702111:21702388	ENSG00000092199.13	ENST00000430246.2,ENST00000556897.1,ENST00000420743.2
exon_skip_111179	14	21699155:21699231:21702111:21702388:21731469:21731495	21702111:21702388	ENSG00000092199.13	ENST00000554969.1,ENST00000554455.1,ENST00000553753.1,ENST00000555914.1,ENST00000555309.1,ENST00000557442.1,ENST00000556513.1,ENST00000553300.1,ENST00000554383.1,ENST00000555215.1,ENST00000553614.1
exon_skip_111180	14	21699161:21699231:21702111:21702388:21737456:21737548	21702111:21702388	ENSG00000092199.13	ENST00000449098.1,ENST00000556142.1,ENST00000555883.1,ENST00000557201.1
exon_skip_111181	14	21699161:21699231:21702111:21702410:21737456:21737638	21702111:21702410	ENSG00000092199.13	ENST00000320084.7
exon_skip_111194	14	21702377:21702388:21702927:21702990:21731469:21731495	21702927:21702990	ENSG00000092199.13	ENST00000554891.1
exon_skip_111198	14	21702377:21702388:21704531:21704619:21731469:21731495	21704531:21704619	ENSG00000092199.13	ENST00000555137.1,ENST00000556226.1,ENST00000555176.1
exon_skip_111201	14	21702377:21702388:21722705:21722752:21731469:21731495	21722705:21722752	ENSG00000092199.13	ENST00000557336.1
exon_skip_111202	14	21702377:21702388:21730759:21730927:21731469:21731495	21730759:21730927	ENSG00000092199.13	ENST00000420743.2
exon_skip_111214	14	21702377:21702388:21731469:21731495:21736781:21736810	21731469:21731495	ENSG00000092199.13	ENST00000554383.1,ENST00000555215.1
exon_skip_111215	14	21702377:21702388:21731469:21731495:21737456:21737548	21731469:21731495	ENSG00000092199.13	ENST00000554455.1,ENST00000553753.1,ENST00000555914.1,ENST00000555309.1,ENST00000557442.1,ENST00000556628.1,ENST00000553300.1,ENST00000554539.1,ENST00000553614.1
exon_skip_111218	14	21702377:21702388:21731469:21731741:21737456:21737548	21731469:21731741	ENSG00000092199.13	ENST00000557768.1
exon_skip_111230	14	21704531:21704619:21731469:21731495:21737456:21737548	21731469:21731495	ENSG00000092199.13	ENST00000555137.1,ENST00000556226.1
exon_skip_111245	14	21731469:21731495:21731825:21731988:21737456:21737548	21731825:21731988	ENSG00000092199.13	ENST00000554969.1,ENST00000556513.1,ENST00000420743.2,ENST00000557336.1
exon_skip_111248	14	21731469:21731495:21736781:21736827:21737456:21737548	21736781:21736827	ENSG00000092199.13	ENST00000554383.1,ENST00000555215.1,ENST00000554891.1

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 HNRNPC

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
ENST00000420743	21702111	21702388	3UTR-3CDS
ENST00000554455	21702111	21702388	3UTR-3CDS
ENST00000557201	21702111	21702388	3UTR-3CDS
ENST00000420743	21730759	21730927	3UTR-3UTR
ENST00000554455	21731469	21731495	3UTR-3UTR
ENST00000420743	21731825	21731988	3UTR-3UTR
ENST00000420743	21679564	21679725	Frame-shift
ENST00000554455	21679564	21679725	Frame-shift
ENST00000557201	21679564	21679725	Frame-shift
ENST00000420743	21681118	21681276	Frame-shift
ENST00000554455	21681118	21681276	Frame-shift
ENST00000557201	21681118	21681276	Frame-shift
ENST00000420743	21698477	21698525	In-frame
ENST00000554455	21698477	21698525	In-frame
ENST00000557201	21698477	21698525	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
ENST00000420743	21702111	21702388	3UTR-3CDS
ENST00000554455	21702111	21702388	3UTR-3CDS
ENST00000557201	21702111	21702388	3UTR-3CDS
ENST00000420743	21730759	21730927	3UTR-3UTR
ENST00000554455	21731469	21731495	3UTR-3UTR
ENST00000420743	21731825	21731988	3UTR-3UTR
ENST00000420743	21679564	21679725	Frame-shift
ENST00000554455	21679564	21679725	Frame-shift
ENST00000557201	21679564	21679725	Frame-shift
ENST00000420743	21681118	21681276	Frame-shift
ENST00000554455	21681118	21681276	Frame-shift
ENST00000557201	21681118	21681276	Frame-shift
ENST00000420743	21698477	21698525	In-frame
ENST00000554455	21698477	21698525	In-frame
ENST00000557201	21698477	21698525	In-frame

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

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
ENST00000420743	1576	306	21698477	21698525	878	925	119	134
ENST00000554455	1801	306	21698477	21698525	547	594	119	134
ENST00000557201	1388	306	21698477	21698525	521	568	119	134

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
ENST00000420743	1576	306	21698477	21698525	878	925	119	134
ENST00000554455	1801	306	21698477	21698525	547	594	119	134
ENST00000557201	1388	306	21698477	21698525	521	568	119	134

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

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

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SNVs in the skipped exons for HNRNPC

- 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.

HNRNPC_COAD_exon_skip_111144_psi_boxplot.png
boxplot

HNRNPC_ESCA_exon_skip_111139_psi_boxplot.png
boxplot

HNRNPC_ESCA_exon_skip_111141_psi_boxplot.png
boxplot

HNRNPC_KIRC_exon_skip_111139_psi_boxplot.png
boxplot

HNRNPC_KIRC_exon_skip_111141_psi_boxplot.png
boxplot

HNRNPC_KIRP_exon_skip_111139_psi_boxplot.png
boxplot

HNRNPC_KIRP_exon_skip_111141_psi_boxplot.png
boxplot

HNRNPC_LIHC_exon_skip_111144_psi_boxplot.png
boxplot

HNRNPC_LUAD_exon_skip_111144_psi_boxplot.png
boxplot

HNRNPC_READ_exon_skip_111139_psi_boxplot.png
boxplot

HNRNPC_READ_exon_skip_111141_psi_boxplot.png
boxplot

HNRNPC_SKCM_exon_skip_111144_psi_boxplot.png
boxplot

HNRNPC_THCA_exon_skip_111139_psi_boxplot.png
boxplot

HNRNPC_THCA_exon_skip_111141_psi_boxplot.png
boxplot

- 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-A3A0-01	exon_skip_111139	21679565	21679722	21679573	21679573	Frame_Shift_Del	C	-	p.D265fs
LIHC	TCGA-DD-A3A0-01	exon_skip_111141	21679565	21679725	21679573	21679573	Frame_Shift_Del	C	-	p.D265fs
THCA	TCGA-ET-A3DS-01	exon_skip_111139	21679565	21679722	21679622	21679623	Frame_Shift_Del	AG	-	p.247_248del
THCA	TCGA-ET-A3DS-01	exon_skip_111139	21679565	21679722	21679622	21679623	Frame_Shift_Del	AG	-	p.S247fs
THCA	TCGA-ET-A3DS-01	exon_skip_111141	21679565	21679725	21679622	21679623	Frame_Shift_Del	AG	-	p.247_248del
THCA	TCGA-ET-A3DS-01	exon_skip_111141	21679565	21679725	21679622	21679623	Frame_Shift_Del	AG	-	p.S247fs
UCEC	TCGA-BG-A0MQ-01	exon_skip_111139	21679565	21679722	21679635	21679635	Frame_Shift_Del	C	-	p.G256fs
UCEC	TCGA-BG-A0MQ-01	exon_skip_111141	21679565	21679725	21679635	21679635	Frame_Shift_Del	C	-	p.G256fs
KIRP	TCGA-A4-7288-01	exon_skip_111139	21679565	21679722	21679712	21679713	Frame_Shift_Del	AT	-	p.230_231del
KIRP	TCGA-A4-7288-01	exon_skip_111139	21679565	21679722	21679712	21679713	Frame_Shift_Del	AT	-	p.N217fs
KIRP	TCGA-A4-7288-01	exon_skip_111139	21679565	21679722	21679712	21679713	Frame_Shift_Del	AT	-	p.N230fs
KIRP	TCGA-A4-7288-01	exon_skip_111141	21679565	21679725	21679712	21679713	Frame_Shift_Del	AT	-	p.230_231del
KIRP	TCGA-A4-7288-01	exon_skip_111141	21679565	21679725	21679712	21679713	Frame_Shift_Del	AT	-	p.N217fs
KIRP	TCGA-A4-7288-01	exon_skip_111141	21679565	21679725	21679712	21679713	Frame_Shift_Del	AT	-	p.N230fs
LIHC	TCGA-DD-A1EG-01	exon_skip_111144	21681119	21681276	21681132	21681132	Frame_Shift_Del	G	-	p.S170fs
LUAD	TCGA-38-4628-01	exon_skip_111144	21681119	21681276	21681149	21681161	Frame_Shift_Del	CACTCTTAGAATT	-	p.N174fs
LUAD	TCGA-38-4628-01	exon_skip_111144	21681119	21681276	21681149	21681161	Frame_Shift_Del	CACTCTTAGAATT	-	p.NSKSG161fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_111144	21681119	21681276	21681175	21681175	Frame_Shift_Del	C	-	p.G156fs
UCEC	TCGA-B5-A0K2-01	exon_skip_111139	21679565	21679722	21679572	21679573	Frame_Shift_Ins	-	C	p.D277fs
UCEC	TCGA-B5-A0K2-01	exon_skip_111141	21679565	21679725	21679572	21679573	Frame_Shift_Ins	-	C	p.D277fs
UCEC	TCGA-BG-A0M3-01	exon_skip_111139	21679565	21679722	21679572	21679573	Frame_Shift_Ins	-	C	p.D277fs
UCEC	TCGA-BG-A0M3-01	exon_skip_111141	21679565	21679725	21679572	21679573	Frame_Shift_Ins	-	C	p.D277fs
UCEC	TCGA-BG-A0M9-01	exon_skip_111139	21679565	21679722	21679572	21679573	Frame_Shift_Ins	-	C	p.D277fs
UCEC	TCGA-BG-A0M9-01	exon_skip_111141	21679565	21679725	21679572	21679573	Frame_Shift_Ins	-	C	p.D277fs
KIRC	TCGA-B8-A54H-01	exon_skip_111139	21679565	21679722	21679630	21679631	Frame_Shift_Ins	-	T	p.D258fs
KIRC	TCGA-B8-A54H-01	exon_skip_111141	21679565	21679725	21679630	21679631	Frame_Shift_Ins	-	T	p.D258fs
COAD	TCGA-AD-6548-01	exon_skip_111144	21681119	21681276	21681240	21681241	Frame_Shift_Ins	-	G	p.P134fs
SKCM	TCGA-EE-A2MR-06	exon_skip_111144	21681119	21681276	21681206	21681206	Nonsense_Mutation	G	A	p.Q146*
READ	TCGA-F5-6814-01	exon_skip_111139	21679565	21679722	21679563	21679563	Splice_Site	A	G	.
READ	TCGA-F5-6814-01	exon_skip_111141	21679565	21679725	21679563	21679563	Splice_Site	A	G	.
ESCA	TCGA-VR-AA4D-01	exon_skip_111139	21679565	21679722	21679564	21679564	Splice_Site	C	G	.
ESCA	TCGA-VR-AA4D-01	exon_skip_111141	21679565	21679725	21679564	21679564	Splice_Site	C	G	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-EE-A2MR-06
	Cancer type: SKCM
	ESID: exon_skip_111144
	Skipped exon start: 21681119
	Skipped exon end: 21681276
	Mutation start: 21681206
	Mutation end: 21681206
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.Q146*
exon_skip_108215_SKCM_TCGA-EE-A2MR-06.png
exon_skip_111144_SKCM_TCGA-EE-A2MR-06.png
exon_skip_124907_SKCM_TCGA-EE-A2MR-06.png
exon_skip_463685_SKCM_TCGA-EE-A2MR-06.png
exon_skip_8747_SKCM_TCGA-EE-A2MR-06.png
	Sample: TCGA-AD-6548-01
	Cancer type: COAD
	ESID: exon_skip_111144
	Skipped exon start: 21681119
	Skipped exon end: 21681276
	Mutation start: 21681240
	Mutation end: 21681241
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.P134fs
exon_skip_111144_COAD_TCGA-AD-6548-01.png
	Sample: TCGA-38-4628-01
	Cancer type: LUAD
	ESID: exon_skip_111144
	Skipped exon start: 21681119
	Skipped exon end: 21681276
	Mutation start: 21681149
	Mutation end: 21681161
	Mutation type: Frame_Shift_Del
	Reference seq: CACTCTTAGAATT
	Mutation seq: -
	AAchange: p.NSKSG161fs
	Sample: TCGA-38-4628-01
	Cancer type: LUAD
	ESID: exon_skip_111144
	Skipped exon start: 21681119
	Skipped exon end: 21681276
	Mutation start: 21681149
	Mutation end: 21681161
	Mutation type: Frame_Shift_Del
	Reference seq: CACTCTTAGAATT
	Mutation seq: -
	AAchange: p.N174fs
exon_skip_111144_LUAD_TCGA-38-4628-01.png
	Sample: TCGA-VR-AA4D-01
	Cancer type: ESCA
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679564
	Mutation end: 21679564
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: G
	AAchange: .
	Sample: TCGA-VR-AA4D-01
	Cancer type: ESCA
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679564
	Mutation end: 21679564
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: G
	AAchange: .
exon_skip_111139_ESCA_TCGA-VR-AA4D-01.png
exon_skip_111141_ESCA_TCGA-VR-AA4D-01.png
exon_skip_29032_ESCA_TCGA-VR-AA4D-01.png
	Sample: TCGA-F5-6814-01
	Cancer type: READ
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679563
	Mutation end: 21679563
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: .
	Sample: TCGA-F5-6814-01
	Cancer type: READ
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679563
	Mutation end: 21679563
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: .
exon_skip_104037_READ_TCGA-F5-6814-01.png
exon_skip_108731_READ_TCGA-F5-6814-01.png
exon_skip_111139_READ_TCGA-F5-6814-01.png
exon_skip_111141_READ_TCGA-F5-6814-01.png
exon_skip_134785_READ_TCGA-F5-6814-01.png
exon_skip_138676_READ_TCGA-F5-6814-01.png
exon_skip_141979_READ_TCGA-F5-6814-01.png
exon_skip_142361_READ_TCGA-F5-6814-01.png
exon_skip_142369_READ_TCGA-F5-6814-01.png
exon_skip_142374_READ_TCGA-F5-6814-01.png
exon_skip_145114_READ_TCGA-F5-6814-01.png
exon_skip_145115_READ_TCGA-F5-6814-01.png
exon_skip_153669_READ_TCGA-F5-6814-01.png
exon_skip_28270_READ_TCGA-F5-6814-01.png
exon_skip_290191_READ_TCGA-F5-6814-01.png
exon_skip_296525_READ_TCGA-F5-6814-01.png
exon_skip_358963_READ_TCGA-F5-6814-01.png
exon_skip_428765_READ_TCGA-F5-6814-01.png
exon_skip_43545_READ_TCGA-F5-6814-01.png
exon_skip_444150_READ_TCGA-F5-6814-01.png
exon_skip_479241_READ_TCGA-F5-6814-01.png
exon_skip_497224_READ_TCGA-F5-6814-01.png
	Sample: TCGA-B8-A54H-01
	Cancer type: KIRC
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679630
	Mutation end: 21679631
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.D258fs
	Sample: TCGA-B8-A54H-01
	Cancer type: KIRC
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679630
	Mutation end: 21679631
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.D258fs
exon_skip_111139_KIRC_TCGA-B8-A54H-01.png
exon_skip_111141_KIRC_TCGA-B8-A54H-01.png
exon_skip_483894_KIRC_TCGA-B8-A54H-01.png
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.230_231del
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.230_231del
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.N217fs
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.N217fs
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.N230fs
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.N230fs
exon_skip_111139_KIRP_TCGA-A4-7288-01.png
exon_skip_111141_KIRP_TCGA-A4-7288-01.png
exon_skip_349689_KIRP_TCGA-A4-7288-01.png
	Sample: TCGA-ET-A3DS-01
	Cancer type: THCA
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679622
	Mutation end: 21679623
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.247_248del
	Sample: TCGA-ET-A3DS-01
	Cancer type: THCA
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679622
	Mutation end: 21679623
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.247_248del
	Sample: TCGA-ET-A3DS-01
	Cancer type: THCA
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679622
	Mutation end: 21679623
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.S247fs
	Sample: TCGA-ET-A3DS-01
	Cancer type: THCA
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679622
	Mutation end: 21679623
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.S247fs
exon_skip_111139_THCA_TCGA-ET-A3DS-01.png
exon_skip_111141_THCA_TCGA-ET-A3DS-01.png
	Sample: TCGA-B5-A0K2-01
	Cancer type: UCEC
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679572
	Mutation end: 21679573
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.D277fs
	Sample: TCGA-B5-A0K2-01
	Cancer type: UCEC
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679572
	Mutation end: 21679573
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.D277fs
exon_skip_111139_UCEC_TCGA-B5-A0K2-01.png
exon_skip_111141_UCEC_TCGA-B5-A0K2-01.png
exon_skip_347690_UCEC_TCGA-B5-A0K2-01.png
	Sample: TCGA-BG-A0M3-01
	Cancer type: UCEC
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679572
	Mutation end: 21679573
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.D277fs
	Sample: TCGA-BG-A0M3-01
	Cancer type: UCEC
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679572
	Mutation end: 21679573
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.D277fs
exon_skip_111139_UCEC_TCGA-BG-A0M3-01.png
exon_skip_111141_UCEC_TCGA-BG-A0M3-01.png
	Sample: TCGA-VR-AA4D-01
	Cancer type: ESCA
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679564
	Mutation end: 21679564
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: G
	AAchange: .
	Sample: TCGA-VR-AA4D-01
	Cancer type: ESCA
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679564
	Mutation end: 21679564
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: G
	AAchange: .
exon_skip_111139_ESCA_TCGA-VR-AA4D-01.png
exon_skip_111141_ESCA_TCGA-VR-AA4D-01.png
exon_skip_29032_ESCA_TCGA-VR-AA4D-01.png
	Sample: TCGA-F5-6814-01
	Cancer type: READ
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679563
	Mutation end: 21679563
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: .
	Sample: TCGA-F5-6814-01
	Cancer type: READ
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679563
	Mutation end: 21679563
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: .
exon_skip_104037_READ_TCGA-F5-6814-01.png
exon_skip_108731_READ_TCGA-F5-6814-01.png
exon_skip_111139_READ_TCGA-F5-6814-01.png
exon_skip_111141_READ_TCGA-F5-6814-01.png
exon_skip_134785_READ_TCGA-F5-6814-01.png
exon_skip_138676_READ_TCGA-F5-6814-01.png
exon_skip_141979_READ_TCGA-F5-6814-01.png
exon_skip_142361_READ_TCGA-F5-6814-01.png
exon_skip_142369_READ_TCGA-F5-6814-01.png
exon_skip_142374_READ_TCGA-F5-6814-01.png
exon_skip_145114_READ_TCGA-F5-6814-01.png
exon_skip_145115_READ_TCGA-F5-6814-01.png
exon_skip_153669_READ_TCGA-F5-6814-01.png
exon_skip_28270_READ_TCGA-F5-6814-01.png
exon_skip_290191_READ_TCGA-F5-6814-01.png
exon_skip_296525_READ_TCGA-F5-6814-01.png
exon_skip_358963_READ_TCGA-F5-6814-01.png
exon_skip_428765_READ_TCGA-F5-6814-01.png
exon_skip_43545_READ_TCGA-F5-6814-01.png
exon_skip_444150_READ_TCGA-F5-6814-01.png
exon_skip_479241_READ_TCGA-F5-6814-01.png
exon_skip_497224_READ_TCGA-F5-6814-01.png
	Sample: TCGA-B8-A54H-01
	Cancer type: KIRC
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679630
	Mutation end: 21679631
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.D258fs
	Sample: TCGA-B8-A54H-01
	Cancer type: KIRC
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679630
	Mutation end: 21679631
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.D258fs
exon_skip_111139_KIRC_TCGA-B8-A54H-01.png
exon_skip_111141_KIRC_TCGA-B8-A54H-01.png
exon_skip_483894_KIRC_TCGA-B8-A54H-01.png
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.230_231del
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.230_231del
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.N217fs
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.N217fs
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.N230fs
	Sample: TCGA-A4-7288-01
	Cancer type: KIRP
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679712
	Mutation end: 21679713
	Mutation type: Frame_Shift_Del
	Reference seq: AT
	Mutation seq: -
	AAchange: p.N230fs
exon_skip_111139_KIRP_TCGA-A4-7288-01.png
exon_skip_111141_KIRP_TCGA-A4-7288-01.png
exon_skip_349689_KIRP_TCGA-A4-7288-01.png
	Sample: TCGA-ET-A3DS-01
	Cancer type: THCA
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679622
	Mutation end: 21679623
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.247_248del
	Sample: TCGA-ET-A3DS-01
	Cancer type: THCA
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679622
	Mutation end: 21679623
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.247_248del
	Sample: TCGA-ET-A3DS-01
	Cancer type: THCA
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679622
	Mutation end: 21679623
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.S247fs
	Sample: TCGA-ET-A3DS-01
	Cancer type: THCA
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679622
	Mutation end: 21679623
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.S247fs
exon_skip_111139_THCA_TCGA-ET-A3DS-01.png
exon_skip_111141_THCA_TCGA-ET-A3DS-01.png
	Sample: TCGA-B5-A0K2-01
	Cancer type: UCEC
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679572
	Mutation end: 21679573
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.D277fs
	Sample: TCGA-B5-A0K2-01
	Cancer type: UCEC
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679572
	Mutation end: 21679573
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.D277fs
exon_skip_111139_UCEC_TCGA-B5-A0K2-01.png
exon_skip_111141_UCEC_TCGA-B5-A0K2-01.png
exon_skip_347690_UCEC_TCGA-B5-A0K2-01.png
	Sample: TCGA-BG-A0M3-01
	Cancer type: UCEC
	ESID: exon_skip_111141
	Skipped exon start: 21679565
	Skipped exon end: 21679725
	Mutation start: 21679572
	Mutation end: 21679573
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.D277fs
	Sample: TCGA-BG-A0M3-01
	Cancer type: UCEC
	ESID: exon_skip_111139
	Skipped exon start: 21679565
	Skipped exon end: 21679722
	Mutation start: 21679572
	Mutation end: 21679573
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.D277fs
exon_skip_111139_UCEC_TCGA-BG-A0M3-01.png
exon_skip_111141_UCEC_TCGA-BG-A0M3-01.png

- 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
JHH5_LIVER	21679565	21679725	21679567	21679567	Missense_Mutation	G	T	p.Q279K
JHH5_LIVER	21679565	21679722	21679567	21679567	Missense_Mutation	G	T	p.Q279K
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21679565	21679725	21679584	21679584	Missense_Mutation	T	A	p.E273V
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21679565	21679722	21679584	21679584	Missense_Mutation	T	A	p.E273V
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21679565	21679725	21679591	21679591	Missense_Mutation	C	T	p.D271N
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21679565	21679722	21679591	21679591	Missense_Mutation	C	T	p.D271N
HMVII_SKIN	21679565	21679725	21679633	21679633	Missense_Mutation	C	T	p.A257T
HMVII_SKIN	21679565	21679722	21679633	21679633	Missense_Mutation	C	T	p.A257T
EN_ENDOMETRIUM	21679565	21679725	21679665	21679665	Missense_Mutation	T	C	p.E246G
EN_ENDOMETRIUM	21679565	21679722	21679665	21679665	Missense_Mutation	T	C	p.E246G
DV90_LUNG	21681119	21681276	21681143	21681143	Missense_Mutation	G	A	p.R180W
SW1783_CENTRAL_NERVOUS_SYSTEM	21681119	21681276	21681143	21681143	Missense_Mutation	G	A	p.R180W
DSH1_URINARY_TRACT	21681119	21681276	21681157	21681157	Missense_Mutation	G	A	p.S175F
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21681119	21681276	21681226	21681226	Missense_Mutation	G	A	p.A152V
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21681119	21681276	21681226	21681226	Missense_Mutation	G	A	p.A152V
GMEL_SKIN	21681119	21681276	21681230	21681230	Missense_Mutation	G	A	p.R151W
HT1376_URINARY_TRACT	21681119	21681276	21681242	21681242	Missense_Mutation	G	A	p.P147S
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21681119	21681276	21681256	21681256	Missense_Mutation	C	T	p.R142H
639V_URINARY_TRACT	21698478	21698525	21698505	21698505	Missense_Mutation	T	C	p.Y126C
SNU81_LARGE_INTESTINE	21702112	21702388	21702240	21702240	Missense_Mutation	G	A	p.S38L
SNU81_LARGE_INTESTINE	21702112	21702410	21702240	21702240	Missense_Mutation	G	A	p.S38L
OVK18_OVARY	21702112	21702388	21702249	21702249	Missense_Mutation	G	A	p.A35V
OVK18_OVARY	21702112	21702410	21702249	21702249	Missense_Mutation	G	A	p.A35V
SKNFI_AUTONOMIC_GANGLIA	21702112	21702388	21702262	21702262	Missense_Mutation	A	T	p.S31T
SKNFI_AUTONOMIC_GANGLIA	21702112	21702410	21702262	21702262	Missense_Mutation	A	T	p.S31T
NCIH1930_LUNG	21679565	21679725	21679615	21679615	Nonsense_Mutation	C	A	p.E263*
NCIH1930_LUNG	21679565	21679722	21679615	21679615	Nonsense_Mutation	C	A	p.E263*
HCT116_LARGE_INTESTINE	21698478	21698525	21698479	21698479	Splice_Site	T	A	p.R135W
BICR18_UPPER_AERODIGESTIVE_TRACT	21698478	21698525	21698525	21698525	Splice_Site	G	A	p.S119S

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

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 HNRNPC

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

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RelatedDrugs for HNRNPC

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 HNRNPC

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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Gene summary for HNRNPC

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

Gene isoform structures and expression levels for HNRNPC

Exon skipping events with PSIs in TCGA for HNRNPC

Exon skipping events with PSIs in GTEx for HNRNPC

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

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

SNVs in the skipped exons for HNRNPC

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

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

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

RelatedDrugs for HNRNPC

RelatedDiseases for HNRNPC