ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for KRT8

Gene summary

Gene information	Gene symbol	KRT8
	Gene ID	3856
	Gene name	keratin 8
	Synonyms	CARD2\|CK-8\|CK8\|CYK8\|K2C8\|K8\|KO
	Cytomap	12q13.13
	Type of gene	protein-coding
	Description	keratin, type II cytoskeletal 8cytokeratin-8keratin 8, type IItype-II keratin Kb8
	Modification date	20180522
	UniProtAcc	P05787
	Context	PubMed: KRT8 [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 KRT8 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 KRT8

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 KRT8

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_92481	12	53291340:53291402:53292244:53292303:53292462:53292476	53292244:53292303	ENSG00000170421.7	ENST00000550170.1,ENST00000552150.1,ENST00000293308.6,ENST00000546897.1,ENST00000546583.1,ENST00000552551.1
exon_skip_92484	12	53293815:53293849:53294371:53294467:53294942:53295003	53294371:53294467	ENSG00000170421.7	ENST00000546826.1,ENST00000548998.1,ENST00000552150.1,ENST00000293308.6,ENST00000546897.1,ENST00000547031.1,ENST00000552551.1,ENST00000549176.1
exon_skip_92485	12	53293791:53293849:53294371:53294467:53295647:53295731	53294371:53294467	ENSG00000170421.7	ENST00000547176.1
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENSG00000170421.7	ENST00000550170.1
exon_skip_92492	12	53294371:53294467:53294942:53295003:53295647:53295661	53294942:53295003	ENSG00000170421.7	ENST00000546826.1,ENST00000548998.1,ENST00000552150.1,ENST00000546900.1,ENST00000293308.6,ENST00000546897.1,ENST00000552551.1,ENST00000549176.1
exon_skip_92495	12	53295647:53295856:53298441:53298811:53320195:53320253	53298441:53298811	ENSG00000170421.7	ENST00000552150.1
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENSG00000170421.7	ENST00000546826.1,ENST00000548998.1
exon_skip_92516	12	53298753:53298811:53343239:53343301:53343498:53343560	53343239:53343301	ENSG00000170421.7	ENST00000548998.1
exon_skip_92519	12	53298753:53298811:53343239:53343369:53343498:53343560	53343239:53343369	ENSG00000170421.7	ENST00000546826.1
exon_skip_92526	12	53342434:53342612:53343239:53343301:53343498:53343560	53343239:53343301	ENSG00000170421.7	ENST00000552877.1
exon_skip_92528	12	53342434:53342612:53343239:53343362:53343498:53343560	53343239:53343362	ENSG00000170421.7	ENST00000551318.1
exon_skip_92529	12	53342434:53342612:53343239:53343369:53343498:53343560	53343239:53343369	ENSG00000170421.7	ENST00000549198.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for KRT8

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_92481	12	53291340:53291402:53292244:53292303:53292462:53292476	53292244:53292303	ENSG00000170421.7	ENST00000552551.1,ENST00000293308.6,ENST00000546583.1,ENST00000550170.1,ENST00000546897.1,ENST00000552150.1
exon_skip_92484	12	53293815:53293849:53294371:53294467:53294942:53295003	53294371:53294467	ENSG00000170421.7	ENST00000552551.1,ENST00000293308.6,ENST00000546897.1,ENST00000552150.1,ENST00000547031.1,ENST00000549176.1,ENST00000546826.1,ENST00000548998.1
exon_skip_92485	12	53293791:53293849:53294371:53294467:53295647:53295731	53294371:53294467	ENSG00000170421.7	ENST00000547176.1
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENSG00000170421.7	ENST00000550170.1
exon_skip_92492	12	53294371:53294467:53294942:53295003:53295647:53295661	53294942:53295003	ENSG00000170421.7	ENST00000552551.1,ENST00000293308.6,ENST00000546897.1,ENST00000552150.1,ENST00000549176.1,ENST00000546826.1,ENST00000548998.1,ENST00000546900.1
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENSG00000170421.7	ENST00000546826.1,ENST00000548998.1
exon_skip_92516	12	53298753:53298811:53343239:53343301:53343498:53343560	53343239:53343301	ENSG00000170421.7	ENST00000548998.1
exon_skip_92519	12	53298753:53298811:53343239:53343369:53343498:53343560	53343239:53343369	ENSG00000170421.7	ENST00000546826.1
exon_skip_92526	12	53342434:53342612:53343239:53343301:53343498:53343560	53343239:53343301	ENSG00000170421.7	ENST00000552877.1
exon_skip_92528	12	53342434:53342612:53343239:53343362:53343498:53343560	53343239:53343362	ENSG00000170421.7	ENST00000551318.1
exon_skip_92529	12	53342434:53342612:53343239:53343369:53343498:53343560	53343239:53343369	ENSG00000170421.7	ENST00000549198.1

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 KRT8

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
ENST00000293308	53292244	53292303	Frame-shift
ENST00000546897	53292244	53292303	Frame-shift
ENST00000552551	53292244	53292303	Frame-shift
ENST00000293308	53294942	53295003	Frame-shift
ENST00000546897	53294942	53295003	Frame-shift
ENST00000552551	53294942	53295003	Frame-shift
ENST00000293308	53294371	53294467	In-frame
ENST00000546897	53294371	53294467	In-frame
ENST00000552551	53294371	53294467	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
ENST00000293308	53292244	53292303	Frame-shift
ENST00000546897	53292244	53292303	Frame-shift
ENST00000552551	53292244	53292303	Frame-shift
ENST00000293308	53294942	53295003	Frame-shift
ENST00000546897	53294942	53295003	Frame-shift
ENST00000552551	53294942	53295003	Frame-shift
ENST00000293308	53294371	53294467	In-frame
ENST00000546897	53294371	53294467	In-frame
ENST00000552551	53294371	53294467	In-frame

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Infer the effects of exon skipping event on protein functional features for KRT8

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
ENST00000293308	1794	483	53294371	53294467	686	781	198	230
ENST00000546897	1772	483	53294371	53294467	751	846	198	230
ENST00000552551	2137	483	53294371	53294467	1028	1123	198	230

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
ENST00000293308	1794	483	53294371	53294467	686	781	198	230
ENST00000546897	1772	483	53294371	53294467	751	846	198	230
ENST00000552551	2137	483	53294371	53294467	1028	1123	198	230

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 KRT8

- 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.

KRT8_CHOL_exon_skip_92488_psi_boxplot.png
boxplot

KRT8_STAD_exon_skip_92488_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
CHOL	TCGA-YR-A95A-01	exon_skip_92485 exon_skip_92484	53294372	53294467	53294404	53294404	Nonsense_Mutation	C	A	p.E248X
CHOL	TCGA-YR-A95A-01	exon_skip_92488	53294372	53295003	53294404	53294404	Nonsense_Mutation	C	A	p.E248X
UCEC	TCGA-AP-A0LM-01	exon_skip_92495 exon_skip_92497	53298442	53298811	53298585	53298585	Nonsense_Mutation	C	A	p.G61*
STAD	TCGA-CG-5723-01	exon_skip_92488	53294372	53295003	53295004	53295004	Splice_Site	C	A	p.K178_splice
STAD	TCGA-CG-5723-01	exon_skip_92492	53294943	53295003	53295004	53295004	Splice_Site	C	A	p.K178_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-AP-A0LM-01
	Cancer type: UCEC
	ESID: exon_skip_92497
	Skipped exon start: 53298442
	Skipped exon end: 53298811
	Mutation start: 53298585
	Mutation end: 53298585
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.G61*
exon_skip_149408_UCEC_TCGA-AP-A0LM-01.png
exon_skip_425876_UCEC_TCGA-AP-A0LM-01.png
exon_skip_92497_UCEC_TCGA-AP-A0LM-01.png
	Sample: TCGA-CG-5723-01
	Cancer type: STAD
	ESID: exon_skip_92488
	Skipped exon start: 53294372
	Skipped exon end: 53295003
	Mutation start: 53295004
	Mutation end: 53295004
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: A
	AAchange: p.K178_splice
	Sample: TCGA-CG-5723-01
	Cancer type: STAD
	ESID: exon_skip_92492
	Skipped exon start: 53294943
	Skipped exon end: 53295003
	Mutation start: 53295004
	Mutation end: 53295004
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: A
	AAchange: p.K178_splice
exon_skip_101055_STAD_TCGA-CG-5723-01.png
exon_skip_135181_STAD_TCGA-CG-5723-01.png
exon_skip_143805_STAD_TCGA-CG-5723-01.png
exon_skip_287270_STAD_TCGA-CG-5723-01.png
exon_skip_325884_STAD_TCGA-CG-5723-01.png
exon_skip_352908_STAD_TCGA-CG-5723-01.png
exon_skip_353222_STAD_TCGA-CG-5723-01.png
exon_skip_356108_STAD_TCGA-CG-5723-01.png
exon_skip_381180_STAD_TCGA-CG-5723-01.png
exon_skip_42584_STAD_TCGA-CG-5723-01.png
exon_skip_447822_STAD_TCGA-CG-5723-01.png
exon_skip_53674_STAD_TCGA-CG-5723-01.png
exon_skip_60290_STAD_TCGA-CG-5723-01.png
exon_skip_60294_STAD_TCGA-CG-5723-01.png
exon_skip_71774_STAD_TCGA-CG-5723-01.png
exon_skip_78894_STAD_TCGA-CG-5723-01.png
exon_skip_84515_STAD_TCGA-CG-5723-01.png
exon_skip_92488_STAD_TCGA-CG-5723-01.png
	Sample: TCGA-YR-A95A-01
	Cancer type: CHOL
	ESID: exon_skip_92484
	Skipped exon start: 53294372
	Skipped exon end: 53294467
	Mutation start: 53294404
	Mutation end: 53294404
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E248X
	Sample: TCGA-YR-A95A-01
	Cancer type: CHOL
	ESID: exon_skip_92488
	Skipped exon start: 53294372
	Skipped exon end: 53295003
	Mutation start: 53294404
	Mutation end: 53294404
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E248X
exon_skip_92488_CHOL_TCGA-YR-A95A-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
HUCCT1_BILIARY_TRACT	53298442	53298811	53298464	53298466	In_Frame_Del	TTG	-	p.N100del
SNU407_LARGE_INTESTINE	53292245	53292303	53292260	53292260	Missense_Mutation	T	C	p.T416A
HEC108_ENDOMETRIUM	53294372	53294467	53294416	53294416	Missense_Mutation	C	A	p.G216W
HEC108_ENDOMETRIUM	53294372	53295003	53294416	53294416	Missense_Mutation	C	A	p.G216W
LS411N_LARGE_INTESTINE	53294372	53294467	53294448	53294448	Missense_Mutation	A	G	p.M205T
LS411N_LARGE_INTESTINE	53294372	53295003	53294448	53294448	Missense_Mutation	A	G	p.M205T
MFE319_ENDOMETRIUM	53294372	53294467	53294451	53294451	Missense_Mutation	T	C	p.Y204C
MFE319_ENDOMETRIUM	53294372	53295003	53294451	53294451	Missense_Mutation	T	C	p.Y204C
HCET_UPPER_AERODIGESTIVE_TRACT	53294372	53295003	53294951	53294951	Missense_Mutation	T	G	p.I196L
HCET_UPPER_AERODIGESTIVE_TRACT	53294943	53295003	53294951	53294951	Missense_Mutation	T	G	p.I196L
SNU1_STOMACH	53298442	53298811	53298449	53298449	Missense_Mutation	A	G	p.I106T
KPNRTBM1_AUTONOMIC_GANGLIA	53298442	53298811	53298539	53298539	Missense_Mutation	A	C	p.L76R
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	53298442	53298811	53298596	53298596	Missense_Mutation	G	A	p.A57V
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	53298442	53298811	53298750	53298750	Missense_Mutation	T	A	p.T6S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KRT8

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
exon_skip_92485	12	53293791:53293849:53294371:53294467:53295647:53295731	53294371:53294467	ENST00000547176.1	ESCA	rs8608	chr12:53294381	T/C	3.00e-04
exon_skip_92485	12	53293791:53293849:53294371:53294467:53295647:53295731	53294371:53294467	ENST00000547176.1	ESCA	rs8608	chr12:53294381	T/C	3.31e-04
exon_skip_92485	12	53293791:53293849:53294371:53294467:53295647:53295731	53294371:53294467	ENST00000547176.1	HNSC	rs8608	chr12:53294381	T/C	1.35e-03
exon_skip_92485	12	53293791:53293849:53294371:53294467:53295647:53295731	53294371:53294467	ENST00000547176.1	HNSC	rs8608	chr12:53294381	T/C	1.63e-03
exon_skip_92485	12	53293791:53293849:53294371:53294467:53295647:53295731	53294371:53294467	ENST00000547176.1	BRCA	rs8608	chr12:53294381	T/C	7.15e-06
exon_skip_92485	12	53293791:53293849:53294371:53294467:53295647:53295731	53294371:53294467	ENST00000547176.1	BRCA	rs8608	chr12:53294381	T/C	8.67e-06
exon_skip_92485	12	53293791:53293849:53294371:53294467:53295647:53295731	53294371:53294467	ENST00000547176.1	LUSC	rs8608	chr12:53294381	T/C	2.94e-03
exon_skip_92485	12	53293791:53293849:53294371:53294467:53295647:53295731	53294371:53294467	ENST00000547176.1	PRAD	rs8608	chr12:53294381	T/C	1.23e-03
exon_skip_92484	12	53293815:53293849:53294371:53294467:53294942:53295003	53294371:53294467	ENST00000546826.1,ENST00000548998.1,ENST00000552150.1,ENST00000293308.6,ENST00000546897.1,ENST00000547031.1,ENST00000552551.1,ENST00000549176.1	ESCA	rs8608	chr12:53294381	T/C	3.00e-04
exon_skip_92484	12	53293815:53293849:53294371:53294467:53294942:53295003	53294371:53294467	ENST00000546826.1,ENST00000548998.1,ENST00000552150.1,ENST00000293308.6,ENST00000546897.1,ENST00000547031.1,ENST00000552551.1,ENST00000549176.1	ESCA	rs8608	chr12:53294381	T/C	3.31e-04
exon_skip_92484	12	53293815:53293849:53294371:53294467:53294942:53295003	53294371:53294467	ENST00000546826.1,ENST00000548998.1,ENST00000552150.1,ENST00000293308.6,ENST00000546897.1,ENST00000547031.1,ENST00000552551.1,ENST00000549176.1	HNSC	rs8608	chr12:53294381	T/C	1.35e-03
exon_skip_92484	12	53293815:53293849:53294371:53294467:53294942:53295003	53294371:53294467	ENST00000546826.1,ENST00000548998.1,ENST00000552150.1,ENST00000293308.6,ENST00000546897.1,ENST00000547031.1,ENST00000552551.1,ENST00000549176.1	HNSC	rs8608	chr12:53294381	T/C	1.63e-03
exon_skip_92484	12	53293815:53293849:53294371:53294467:53294942:53295003	53294371:53294467	ENST00000546826.1,ENST00000548998.1,ENST00000552150.1,ENST00000293308.6,ENST00000546897.1,ENST00000547031.1,ENST00000552551.1,ENST00000549176.1	BRCA	rs8608	chr12:53294381	T/C	7.15e-06
exon_skip_92484	12	53293815:53293849:53294371:53294467:53294942:53295003	53294371:53294467	ENST00000546826.1,ENST00000548998.1,ENST00000552150.1,ENST00000293308.6,ENST00000546897.1,ENST00000547031.1,ENST00000552551.1,ENST00000549176.1	BRCA	rs8608	chr12:53294381	T/C	8.67e-06
exon_skip_92484	12	53293815:53293849:53294371:53294467:53294942:53295003	53294371:53294467	ENST00000546826.1,ENST00000548998.1,ENST00000552150.1,ENST00000293308.6,ENST00000546897.1,ENST00000547031.1,ENST00000552551.1,ENST00000549176.1	LUSC	rs8608	chr12:53294381	T/C	2.94e-03
exon_skip_92484	12	53293815:53293849:53294371:53294467:53294942:53295003	53294371:53294467	ENST00000546826.1,ENST00000548998.1,ENST00000552150.1,ENST00000293308.6,ENST00000546897.1,ENST00000547031.1,ENST00000552551.1,ENST00000549176.1	PRAD	rs8608	chr12:53294381	T/C	1.23e-03
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	ESCA	rs8608	chr12:53294381	T/C	3.00e-04
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	ESCA	rs4351899	chr12:53294821	A/C	3.15e-04
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	ESCA	rs8608	chr12:53294381	T/C	3.31e-04
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	ESCA	rs4351899	chr12:53294821	A/C	3.91e-04
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	HNSC	rs4351899	chr12:53294821	A/C	1.17e-03
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	HNSC	rs8608	chr12:53294381	T/C	1.35e-03
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	HNSC	rs4351899	chr12:53294821	A/C	1.42e-03
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	HNSC	rs8608	chr12:53294381	T/C	1.63e-03
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	BRCA	rs4351899	chr12:53294821	A/C	3.72e-06
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	BRCA	rs4351899	chr12:53294821	A/C	4.59e-06
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	BRCA	rs8608	chr12:53294381	T/C	7.15e-06
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	BRCA	rs8608	chr12:53294381	T/C	8.67e-06
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	LUSC	rs4351899	chr12:53294821	A/C	2.62e-03
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	LUSC	rs8608	chr12:53294381	T/C	2.94e-03
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	PRAD	rs56095813	chr12:53294747	C/T	2.23e-04
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	PRAD	rs56095813	chr12:53294747	C/T	2.35e-04
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	PRAD	rs4351899	chr12:53294821	A/C	7.97e-04
exon_skip_92488	12	53293791:53293849:53294371:53295003:53295647:53295731	53294371:53295003	ENST00000550170.1	PRAD	rs8608	chr12:53294381	T/C	1.23e-03
exon_skip_92495	12	53295647:53295856:53298441:53298811:53320195:53320253	53298441:53298811	ENST00000552150.1	ESCA	rs1065306	chr12:53298769	A/G	1.12e-03
exon_skip_92495	12	53295647:53295856:53298441:53298811:53320195:53320253	53298441:53298811	ENST00000552150.1	HNSC	rs1065306	chr12:53298769	A/G	1.05e-03
exon_skip_92495	12	53295647:53295856:53298441:53298811:53320195:53320253	53298441:53298811	ENST00000552150.1	HNSC	rs1065306	chr12:53298769	A/G	1.09e-03
exon_skip_92495	12	53295647:53295856:53298441:53298811:53320195:53320253	53298441:53298811	ENST00000552150.1	PRAD	rs137898974	chr12:53298775	A/T	2.92e-04
exon_skip_92495	12	53295647:53295856:53298441:53298811:53320195:53320253	53298441:53298811	ENST00000552150.1	PRAD	rs137898974	chr12:53298775	A/T	3.08e-04
exon_skip_92495	12	53295647:53295856:53298441:53298811:53320195:53320253	53298441:53298811	ENST00000552150.1	PRAD	rs1065306	chr12:53298769	A/G	5.37e-04
exon_skip_92495	12	53295647:53295856:53298441:53298811:53320195:53320253	53298441:53298811	ENST00000552150.1	PRAD	rs1065306	chr12:53298769	A/G	5.67e-04
exon_skip_92495	12	53295647:53295856:53298441:53298811:53320195:53320253	53298441:53298811	ENST00000552150.1	THYM	rs1065306	chr12:53298769	A/G	3.70e-04
exon_skip_92495	12	53295647:53295856:53298441:53298811:53320195:53320253	53298441:53298811	ENST00000552150.1	THYM	rs1065306	chr12:53298769	A/G	3.81e-04
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENST00000546826.1,ENST00000548998.1	ESCA	rs1065306	chr12:53298769	A/G	1.12e-03
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENST00000546826.1,ENST00000548998.1	HNSC	rs1065306	chr12:53298769	A/G	1.05e-03
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENST00000546826.1,ENST00000548998.1	HNSC	rs1065306	chr12:53298769	A/G	1.09e-03
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENST00000546826.1,ENST00000548998.1	PRAD	rs137898974	chr12:53298775	A/T	2.92e-04
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENST00000546826.1,ENST00000548998.1	PRAD	rs137898974	chr12:53298775	A/T	3.08e-04
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENST00000546826.1,ENST00000548998.1	PRAD	rs1065306	chr12:53298769	A/G	5.37e-04
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENST00000546826.1,ENST00000548998.1	PRAD	rs1065306	chr12:53298769	A/G	5.67e-04
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENST00000546826.1,ENST00000548998.1	THYM	rs1065306	chr12:53298769	A/G	3.70e-04
exon_skip_92497	12	53295737:53295856:53298441:53298811:53343239:53343301	53298441:53298811	ENST00000546826.1,ENST00000548998.1	THYM	rs1065306	chr12:53298769	A/G	3.81e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KRT8

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KRT8

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RelatedDrugs for KRT8

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
	P05787	DB00031	Tenecteplase	Keratin, type II cytoskeletal 8	biotech	approved

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RelatedDiseases for KRT8

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
KRT8	C0023893	Liver Cirrhosis, Experimental	2	CTD_human
KRT8	C0023903	Liver neoplasms	2	CTD_human
KRT8	C0001418	Adenocarcinoma	1	CTD_human
KRT8	C0007134	Renal Cell Carcinoma	1	CTD_human
KRT8	C0023890	Liver Cirrhosis	1	CTD_human
KRT8	C0032927	Precancerous Conditions	1	CTD_human
KRT8	C0038356	Stomach Neoplasms	1	CTD_human
KRT8	C0162557	Liver Failure, Acute	1	CTD_human
KRT8	C1458155	Mammary Neoplasms	1	CTD_human
KRT8	C1861556	Cirrhosis, Familial	1	CTD_human;UNIPROT

	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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