ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CDC7

Gene summary

Gene information	Gene symbol	CDC7
	Gene ID	8317
	Gene name	cell division cycle 7
	Synonyms	CDC7L1\|HsCDC7\|Hsk1\|huCDC7
	Cytomap	1p22.1
	Type of gene	protein-coding
	Description	cell division cycle 7-related protein kinaseCDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1CDC7-related kinasecell division cycle 7 homologcell division cycle 7-like protein 1
	Modification date	20180523
	UniProtAcc	O00311
	Context	PubMed: CDC7 [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 CDC7 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 CDC7

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 CDC7

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_7777	1	91966449:91966505:91967210:91967388:91973410:91973494	91967210:91967388	ENSG00000097046.8	ENST00000234626.6
exon_skip_7782	1	91967327:91967388:91973410:91973494:91973818:91973954	91973410:91973494	ENSG00000097046.8	ENST00000426137.1,ENST00000428239.1,ENST00000234626.6,ENST00000497611.1
exon_skip_7783	1	91967210:91967388:91973818:91973954:91977153:91977247	91973818:91973954	ENSG00000097046.8	ENST00000430031.2
exon_skip_7784	1	91973818:91973954:91977153:91977247:91977337:91977380	91977153:91977247	ENSG00000097046.8	ENST00000426137.1,ENST00000428239.1,ENST00000234626.6,ENST00000430031.2
exon_skip_7785	1	91977337:91977480:91978614:91978864:91979504:91979600	91978614:91978864	ENSG00000097046.8	ENST00000428239.1,ENST00000234626.6,ENST00000430031.2
exon_skip_7786	1	91978683:91978864:91979504:91979600:91980375:91980554	91979504:91979600	ENSG00000097046.8	ENST00000428239.1,ENST00000234626.6,ENST00000430031.2
exon_skip_7787	1	91981350:91981433:91985686:91985836:91989597:91990056	91985686:91985836	ENSG00000097046.8	ENST00000428239.1,ENST00000234626.6,ENST00000430031.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CDC7

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_7777	1	91966449:91966505:91967210:91967388:91973410:91973494	91967210:91967388	ENSG00000097046.8	ENST00000234626.6
exon_skip_7782	1	91967327:91967388:91973410:91973494:91973818:91973954	91973410:91973494	ENSG00000097046.8	ENST00000234626.6,ENST00000428239.1,ENST00000426137.1,ENST00000497611.1
exon_skip_7783	1	91967210:91967388:91973818:91973954:91977153:91977247	91973818:91973954	ENSG00000097046.8	ENST00000430031.2
exon_skip_7784	1	91973818:91973954:91977153:91977247:91977337:91977380	91977153:91977247	ENSG00000097046.8	ENST00000430031.2,ENST00000234626.6,ENST00000428239.1,ENST00000426137.1
exon_skip_7785	1	91977337:91977480:91978614:91978864:91979504:91979600	91978614:91978864	ENSG00000097046.8	ENST00000430031.2,ENST00000234626.6,ENST00000428239.1
exon_skip_7786	1	91978683:91978864:91979504:91979600:91980375:91980554	91979504:91979600	ENSG00000097046.8	ENST00000430031.2,ENST00000234626.6,ENST00000428239.1
exon_skip_7787	1	91981350:91981433:91985686:91985836:91989597:91990056	91985686:91985836	ENSG00000097046.8	ENST00000430031.2,ENST00000234626.6,ENST00000428239.1

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 CDC7

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
ENST00000234626	91967210	91967388	5CDS-5UTR
ENST00000234626	91977153	91977247	Frame-shift
ENST00000428239	91977153	91977247	Frame-shift
ENST00000234626	91978614	91978864	Frame-shift
ENST00000428239	91978614	91978864	Frame-shift
ENST00000234626	91973410	91973494	In-frame
ENST00000428239	91973410	91973494	In-frame
ENST00000234626	91979504	91979600	In-frame
ENST00000428239	91979504	91979600	In-frame
ENST00000234626	91985686	91985836	In-frame
ENST00000428239	91985686	91985836	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
ENST00000234626	91967210	91967388	5CDS-5UTR
ENST00000234626	91977153	91977247	Frame-shift
ENST00000428239	91977153	91977247	Frame-shift
ENST00000234626	91978614	91978864	Frame-shift
ENST00000428239	91978614	91978864	Frame-shift
ENST00000234626	91973410	91973494	In-frame
ENST00000428239	91973410	91973494	In-frame
ENST00000234626	91979504	91979600	In-frame
ENST00000428239	91979504	91979600	In-frame
ENST00000234626	91985686	91985836	In-frame
ENST00000428239	91985686	91985836	In-frame

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Infer the effects of exon skipping event on protein functional features for CDC7

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
ENST00000234626	3190	574	91973410	91973494	235	318	38	66
ENST00000428239	3330	574	91973410	91973494	375	458	38	66
ENST00000234626	3190	574	91979504	91979600	942	1037	274	306
ENST00000428239	3330	574	91979504	91979600	1082	1177	274	306
ENST00000234626	3190	574	91985686	91985836	1300	1449	393	443
ENST00000428239	3330	574	91985686	91985836	1440	1589	393	443

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
ENST00000234626	3190	574	91973410	91973494	235	318	38	66
ENST00000428239	3330	574	91973410	91973494	375	458	38	66
ENST00000234626	3190	574	91979504	91979600	942	1037	274	306
ENST00000428239	3330	574	91979504	91979600	1082	1177	274	306
ENST00000234626	3190	574	91985686	91985836	1300	1449	393	443
ENST00000428239	3330	574	91985686	91985836	1440	1589	393	443

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
O00311	38	66	59	66	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	59	66	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	38	66	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	38	66	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	38	66	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	38	66	42	50	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	42	50	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	52	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	52	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	64	72	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	38	66	64	72	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	274	306	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	274	306	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	274	306	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	274	306	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	393	443	412	415	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	412	415	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	393	443	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	393	443	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	393	443	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	393	443	394	409	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	394	409	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	420	431	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	420	431	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	433	442	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	433	442	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	441	441	Natural variant	ID=VAR_019259;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|Ref.4;Dbxref=dbSNP:rs13447539,PMID:17344846
O00311	393	443	441	441	Natural variant	ID=VAR_019259;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|Ref.4;Dbxref=dbSNP:rs13447539,PMID:17344846

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
O00311	38	66	59	66	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	59	66	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	38	66	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	38	66	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	38	66	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	38	66	42	50	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	42	50	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	52	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	52	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	38	66	64	72	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	38	66	64	72	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	274	306	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	274	306	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	274	306	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	274	306	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	393	443	412	415	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	412	415	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	393	443	1	574	Chain	ID=PRO_0000085763;Note=Cell division cycle 7-related protein kinase
O00311	393	443	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	393	443	58	574	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O00311	393	443	394	409	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	394	409	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	420	431	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	420	431	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	433	442	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	433	442	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F9C
O00311	393	443	441	441	Natural variant	ID=VAR_019259;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|Ref.4;Dbxref=dbSNP:rs13447539,PMID:17344846
O00311	393	443	441	441	Natural variant	ID=VAR_019259;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|Ref.4;Dbxref=dbSNP:rs13447539,PMID:17344846

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SNVs in the skipped exons for CDC7

- 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-A39Y-01	exon_skip_7777	91967211	91967388	91967288	91967288	Frame_Shift_Del	G	-	p.L5fs
LIHC	TCGA-BD-A2L6-01	exon_skip_7777	91967211	91967388	91967357	91967357	Frame_Shift_Del	A	-	p.L28fs
UCEC	TCGA-A5-A0GA-01	exon_skip_7777	91967211	91967388	91967357	91967357	Frame_Shift_Del	A	-	p.L28fs
LUAD	TCGA-86-6851-01	exon_skip_7786	91979505	91979600	91979544	91979544	Frame_Shift_Del	G	-	p.G288fs
HNSC	TCGA-H7-A76A-01	exon_skip_7777	91967211	91967388	91967356	91967357	Frame_Shift_Ins	-	A	p.*28fs
LUAD	TCGA-55-8204-01	exon_skip_7777	91967211	91967388	91967356	91967357	Frame_Shift_Ins	-	A	p.*28fs
STAD	TCGA-FP-A4BE-01	exon_skip_7777	91967211	91967388	91967356	91967357	Frame_Shift_Ins	-	A	p.L28fs
STAD	TCGA-BR-6452-01	exon_skip_7782	91973411	91973494	91973481	91973482	Frame_Shift_Ins	-	A	p.D62fs
LUAD	TCGA-55-8506-01	exon_skip_7786	91979505	91979600	91979538	91979539	Frame_Shift_Ins	-	T	p.F286fs
CHOL	TCGA-3X-AAVC-01	exon_skip_7777	91967211	91967388	91967356	91967356	Nonsense_Mutation	T	A	p.L28X
CHOL	TCGA-W5-AA30-01	exon_skip_7777	91967211	91967388	91967356	91967356	Nonsense_Mutation	T	A	p.L28X
ESCA	TCGA-2H-A9GI-01	exon_skip_7777	91967211	91967388	91967356	91967356	Nonsense_Mutation	T	A	p.L28*
ESCA	TCGA-Q9-A6FW-01	exon_skip_7777	91967211	91967388	91967356	91967356	Nonsense_Mutation	T	A	p.L28*
ESCA	TCGA-VR-A8ET-01	exon_skip_7777	91967211	91967388	91967356	91967356	Nonsense_Mutation	T	A	p.L28*
LGG	TCGA-HT-A615-01	exon_skip_7777	91967211	91967388	91967356	91967356	Nonsense_Mutation	T	A	p.L28*
LIHC	TCGA-MI-A75E-01	exon_skip_7777	91967211	91967388	91967356	91967356	Nonsense_Mutation	T	A	p.L28*
PRAD	TCGA-HC-7230-01	exon_skip_7777	91967211	91967388	91967356	91967356	Nonsense_Mutation	T	A	p.L28*
PRAD	TCGA-HI-7171-01	exon_skip_7777	91967211	91967388	91967356	91967356	Nonsense_Mutation	T	A	p.L28*
SARC	TCGA-DX-A7EU-01	exon_skip_7777	91967211	91967388	91967356	91967356	Nonsense_Mutation	T	A	p.L28*
ESCA	TCGA-JY-A6F8-01	exon_skip_7783	91973819	91973954	91973869	91973869	Nonsense_Mutation	G	T	p.E84X
LIHC	TCGA-WQ-A9G7-01	exon_skip_7787	91985687	91985836	91985737	91985737	Nonsense_Mutation	C	T	p.R411X
STAD	TCGA-CG-4305-01	exon_skip_7787	91985687	91985836	91985737	91985737	Nonsense_Mutation	C	T	p.R411*
STAD	TCGA-CG-4305-01	exon_skip_7787	91985687	91985836	91985737	91985737	Nonsense_Mutation	C	T	p.R411X
STAD	TCGA-BR-8680-01	exon_skip_7787	91985687	91985836	91985809	91985809	Nonsense_Mutation	G	T	p.E435*
STAD	TCGA-BR-8680-01	exon_skip_7787	91985687	91985836	91985809	91985809	Nonsense_Mutation	G	T	p.E435X

- 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
NCIH854_LUNG	91967211	91967388	91967315	91967315	Frame_Shift_Del	T	-	p.A14fs
LS180_LARGE_INTESTINE	91977154	91977247	91977242	91977242	Frame_Shift_Del	T	-	p.F142fs
BT483_BREAST	91967211	91967388	91967335	91967335	Missense_Mutation	G	A	p.R21Q
MCC26_SKIN	91967211	91967388	91967346	91967346	Missense_Mutation	G	A	p.E25K
SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91973411	91973494	91973421	91973421	Missense_Mutation	A	C	p.K42N
ECC12_STOMACH	91973411	91973494	91973440	91973440	Missense_Mutation	G	A	p.E49K
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91973411	91973494	91973473	91973473	Missense_Mutation	A	G	p.I60V
EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91973411	91973494	91973473	91973473	Missense_Mutation	A	G	p.I60V
JHH5_LIVER	91977154	91977247	91977228	91977228	Missense_Mutation	T	G	p.L137R
MCC26_SKIN	91978615	91978864	91978647	91978647	Missense_Mutation	G	A	p.G202E
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91978615	91978864	91978659	91978659	Missense_Mutation	C	T	p.T206M
HCC2157_BREAST	91978615	91978864	91978719	91978719	Missense_Mutation	A	G	p.N226S
HCC2157_MATCHED_NORMAL_TISSUE	91978615	91978864	91978719	91978719	Missense_Mutation	A	G	p.N226S
SNU719_STOMACH	91978615	91978864	91978742	91978742	Missense_Mutation	A	C	p.N234H
HEC251_ENDOMETRIUM	91978615	91978864	91978746	91978746	Missense_Mutation	A	C	p.K235T
RKO_LARGE_INTESTINE	91978615	91978864	91978759	91978759	Missense_Mutation	T	G	p.S239R
MFE319_ENDOMETRIUM	91978615	91978864	91978785	91978785	Missense_Mutation	A	G	p.Q248R
NCIH2081_LUNG	91978615	91978864	91978797	91978797	Missense_Mutation	C	G	p.T252R
NCIH2722_PLEURA	91978615	91978864	91978817	91978817	Missense_Mutation	C	T	p.P259S
BICR6_UPPER_AERODIGESTIVE_TRACT	91978615	91978864	91978838	91978838	Missense_Mutation	C	G	p.Q266E
BICR18_UPPER_AERODIGESTIVE_TRACT	91979505	91979600	91979508	91979508	Missense_Mutation	G	A	p.G276R
SNU1040_LARGE_INTESTINE	91979505	91979600	91979532	91979532	Missense_Mutation	C	T	p.R284C
HEC251_ENDOMETRIUM	91979505	91979600	91979558	91979558	Missense_Mutation	C	A	p.F292L
BEN_LUNG	91979505	91979600	91979578	91979578	Missense_Mutation	C	T	p.S299L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91979505	91979600	91979596	91979596	Missense_Mutation	T	A	p.V305E
BICR18_UPPER_AERODIGESTIVE_TRACT	91979505	91979600	91979596	91979596	Missense_Mutation	T	A	p.V305E
MCC13_SKIN	91985687	91985836	91985704	91985704	Missense_Mutation	G	T	p.A400S
C33A_CERVIX	91967211	91967388	91967387	91967387	Splice_Site	A	G	p.A38A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDC7

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 CDC7

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDC7

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RelatedDrugs for CDC7

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 CDC7

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 CDC7

Exon skipping events across known transcript of Ensembl for CDC7 from UCSC genome browser

Gene isoform structures and expression levels for CDC7

Exon skipping events with PSIs in TCGA for CDC7

Exon skipping events with PSIs in GTEx for CDC7

Open reading frame (ORF) annotation in the exon skipping event for CDC7

Infer the effects of exon skipping event on protein functional features for CDC7

SNVs in the skipped exons for CDC7

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDC7

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDC7

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDC7

RelatedDrugs for CDC7

RelatedDiseases for CDC7