ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for HIPK3

Gene summary

Gene information	Gene symbol	HIPK3
	Gene ID	10114
	Gene name	homeodomain interacting protein kinase 3
	Synonyms	DYRK6\|FIST3\|PKY\|YAK1
	Cytomap	11p13
	Type of gene	protein-coding
	Description	homeodomain-interacting protein kinase 3ANPKFISTandrogen receptor-interacting nuclear protein kinasefas-interacting serine/threonine-protein kinasehomolog of protein kinase YAK1
	Modification date	20180519
	UniProtAcc	Q9H422
	Context	PubMed: HIPK3 [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
HIPK3	GO:0006468	protein phosphorylation	14766760
HIPK3	GO:0009299	mRNA transcription	17210646

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Exon skipping events across known transcript of Ensembl for HIPK3 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 HIPK3

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 HIPK3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_57698	11	33279132:33279435:33307958:33309057:33350055:33350179	33307958:33309057	ENSG00000110422.7	ENST00000303296.4,ENST00000379016.3
exon_skip_57699	11	33307958:33309057:33350055:33350179:33358620:33358740	33350055:33350179	ENSG00000110422.7	ENST00000525975.1,ENST00000303296.4,ENST00000456517.1,ENST00000379016.3
exon_skip_57702	11	33350145:33350179:33357203:33357312:33358620:33358740	33357203:33357312	ENSG00000110422.7	ENST00000534262.1
exon_skip_57703	11	33350145:33350179:33358620:33358740:33360302:33360388	33358620:33358740	ENSG00000110422.7	ENST00000525975.1,ENST00000303296.4,ENST00000456517.1,ENST00000379016.3
exon_skip_57705	11	33369401:33369559:33369711:33369774:33370067:33370364	33369711:33369774	ENSG00000110422.7	ENST00000303296.4
exon_skip_57711	11	33369401:33369559:33370067:33370364:33370692:33370833	33370067:33370364	ENSG00000110422.7	ENST00000525975.1,ENST00000456517.1,ENST00000379016.3
exon_skip_57719	11	33369711:33369774:33370067:33370364:33370692:33370833	33370067:33370364	ENSG00000110422.7	ENST00000303296.4
exon_skip_57723	11	33370243:33370364:33370692:33370833:33373153:33373389	33370692:33370833	ENSG00000110422.7	ENST00000525975.1,ENST00000303296.4,ENST00000456517.1,ENST00000379016.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for HIPK3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_57698	11	33279132:33279435:33307958:33309057:33350055:33350179	33307958:33309057	ENSG00000110422.7	ENST00000303296.4,ENST00000379016.3
exon_skip_57699	11	33307958:33309057:33350055:33350179:33358620:33358740	33350055:33350179	ENSG00000110422.7	ENST00000525975.1,ENST00000303296.4,ENST00000379016.3,ENST00000456517.1
exon_skip_57702	11	33350145:33350179:33357203:33357312:33358620:33358740	33357203:33357312	ENSG00000110422.7	ENST00000534262.1
exon_skip_57703	11	33350145:33350179:33358620:33358740:33360302:33360388	33358620:33358740	ENSG00000110422.7	ENST00000525975.1,ENST00000303296.4,ENST00000379016.3,ENST00000456517.1
exon_skip_57705	11	33369401:33369559:33369711:33369774:33370067:33370364	33369711:33369774	ENSG00000110422.7	ENST00000303296.4
exon_skip_57711	11	33369401:33369559:33370067:33370364:33370692:33370833	33370067:33370364	ENSG00000110422.7	ENST00000525975.1,ENST00000379016.3,ENST00000456517.1
exon_skip_57719	11	33369711:33369774:33370067:33370364:33370692:33370833	33370067:33370364	ENSG00000110422.7	ENST00000303296.4
exon_skip_57723	11	33370243:33370364:33370692:33370833:33373153:33373389	33370692:33370833	ENSG00000110422.7	ENST00000525975.1,ENST00000303296.4,ENST00000379016.3,ENST00000456517.1

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 HIPK3

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
ENST00000303296	33307958	33309057	5CDS-5UTR
ENST00000303296	33350055	33350179	Frame-shift
ENST00000303296	33358620	33358740	In-frame
ENST00000303296	33369711	33369774	In-frame
ENST00000303296	33370067	33370364	In-frame
ENST00000303296	33370692	33370833	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
ENST00000303296	33307958	33309057	5CDS-5UTR
ENST00000303296	33350055	33350179	Frame-shift
ENST00000303296	33358620	33358740	In-frame
ENST00000303296	33369711	33369774	In-frame
ENST00000303296	33370067	33370364	In-frame
ENST00000303296	33370692	33370833	In-frame

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Infer the effects of exon skipping event on protein functional features for HIPK3

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
ENST00000303296	7425	1215	33358620	33358740	1527	1646	407	447
ENST00000303296	7425	1215	33369711	33369774	2612	2674	769	789
ENST00000303296	7425	1215	33370067	33370364	2675	2971	790	888
ENST00000303296	7425	1215	33370692	33370833	2972	3112	889	935

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
ENST00000303296	7425	1215	33358620	33358740	1527	1646	407	447
ENST00000303296	7425	1215	33369711	33369774	2612	2674	769	789
ENST00000303296	7425	1215	33370067	33370364	2675	2971	790	888
ENST00000303296	7425	1215	33370692	33370833	2972	3112	889	935

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
Q9H422	407	447	1	1215	Chain	ID=PRO_0000085998;Note=Homeodomain-interacting protein kinase 3
Q9H422	407	447	197	525	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9H422	769	789	770	790	Alternative sequence	ID=VSP_013140;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11034606;Dbxref=PMID:11034606
Q9H422	769	789	1	1215	Chain	ID=PRO_0000085998;Note=Homeodomain-interacting protein kinase 3
Q9H422	769	789	767	944	Region	Note=Interaction with AR;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	790	888	770	790	Alternative sequence	ID=VSP_013140;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11034606;Dbxref=PMID:11034606
Q9H422	790	888	1	1215	Chain	ID=PRO_0000085998;Note=Homeodomain-interacting protein kinase 3
Q9H422	790	888	767	944	Region	Note=Interaction with AR;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	790	888	796	891	Region	Note=Interaction with FAS;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	790	888	855	1011	Region	Note=Required for localization to nuclear speckles;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	790	888	866	918	Region	Note=SUMO interaction motifs (SIM)%3B required for nuclear localization and kinase activity;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	790	888	870	880	Region	Note=Interaction with UBL1;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H422	889	935	1	1215	Chain	ID=PRO_0000085998;Note=Homeodomain-interacting protein kinase 3
Q9H422	889	935	910	962	Compositional bias	Note=Ser-rich
Q9H422	889	935	767	944	Region	Note=Interaction with AR;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	889	935	796	891	Region	Note=Interaction with FAS;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	889	935	855	1011	Region	Note=Required for localization to nuclear speckles;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	889	935	866	918	Region	Note=SUMO interaction motifs (SIM)%3B required for nuclear localization and kinase activity;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q9H422	407	447	1	1215	Chain	ID=PRO_0000085998;Note=Homeodomain-interacting protein kinase 3
Q9H422	407	447	197	525	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9H422	769	789	770	790	Alternative sequence	ID=VSP_013140;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11034606;Dbxref=PMID:11034606
Q9H422	769	789	1	1215	Chain	ID=PRO_0000085998;Note=Homeodomain-interacting protein kinase 3
Q9H422	769	789	767	944	Region	Note=Interaction with AR;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	790	888	770	790	Alternative sequence	ID=VSP_013140;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11034606;Dbxref=PMID:11034606
Q9H422	790	888	1	1215	Chain	ID=PRO_0000085998;Note=Homeodomain-interacting protein kinase 3
Q9H422	790	888	767	944	Region	Note=Interaction with AR;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	790	888	796	891	Region	Note=Interaction with FAS;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	790	888	855	1011	Region	Note=Required for localization to nuclear speckles;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	790	888	866	918	Region	Note=SUMO interaction motifs (SIM)%3B required for nuclear localization and kinase activity;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	790	888	870	880	Region	Note=Interaction with UBL1;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H422	889	935	1	1215	Chain	ID=PRO_0000085998;Note=Homeodomain-interacting protein kinase 3
Q9H422	889	935	910	962	Compositional bias	Note=Ser-rich
Q9H422	889	935	767	944	Region	Note=Interaction with AR;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	889	935	796	891	Region	Note=Interaction with FAS;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	889	935	855	1011	Region	Note=Required for localization to nuclear speckles;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9H422	889	935	866	918	Region	Note=SUMO interaction motifs (SIM)%3B required for nuclear localization and kinase activity;Ontology_term=ECO:0000250;evidence=ECO:0000250

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SNVs in the skipped exons for HIPK3

- 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.

HIPK3_HNSC_exon_skip_57703_psi_boxplot.png
boxplot

HIPK3_STAD_exon_skip_57703_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_57698	33307959	33309057	33308070	33308070	Frame_Shift_Del	A	-	p.E37fs
LIHC	TCGA-DD-A1EG-01	exon_skip_57698	33307959	33309057	33308323	33308323	Frame_Shift_Del	C	-	p.G121fs
STAD	TCGA-BR-7707-01	exon_skip_57698	33307959	33309057	33308323	33308323	Frame_Shift_Del	C	-	p.G121fs
LIHC	TCGA-DD-A39Y-01	exon_skip_57698	33307959	33309057	33308540	33308540	Frame_Shift_Del	A	-	p.K194fs
LIHC	TCGA-DD-A1EG-01	exon_skip_57698	33307959	33309057	33308891	33308891	Frame_Shift_Del	A	-	p.K312fs
COAD	TCGA-CK-5913-01	exon_skip_57698	33307959	33309057	33309022	33309025	Frame_Shift_Del	TGTT	-	p.354_355del
LIHC	TCGA-DD-A39Y-01	exon_skip_57705	33369712	33369774	33369717	33369717	Frame_Shift_Del	T	-	p.I771fs
LGG	TCGA-HT-8564-01	exon_skip_57698	33307959	33309057	33308890	33308891	Frame_Shift_Ins	-	A	p.L310fs
LGG	TCGA-HT-8564-01	exon_skip_57698	33307959	33309057	33308890	33308891	Frame_Shift_Ins	-	A	p.LK310fs
STAD	TCGA-BR-4201-01	exon_skip_57703	33358621	33358740	33358692	33358693	Frame_Shift_Ins	-	T	p.R431fs
STAD	TCGA-BR-4201-01	exon_skip_57703	33358621	33358740	33358693	33358694	Frame_Shift_Ins	-	T	p.R431fs
STAD	TCGA-BR-8081-01	exon_skip_57703	33358621	33358740	33358693	33358694	Frame_Shift_Ins	-	T	p.R431fs
LUAD	TCGA-75-5126-01	exon_skip_57698	33307959	33309057	33308507	33308507	Nonsense_Mutation	C	T	p.Q183*
BLCA	TCGA-FD-A3SN-01	exon_skip_57698	33307959	33309057	33308756	33308756	Nonsense_Mutation	C	T	p.Q266*
UCEC	TCGA-AP-A056-01	exon_skip_57703	33358621	33358740	33358624	33358624	Nonsense_Mutation	C	T	p.R409*
UCEC	TCGA-AX-A05Z-01	exon_skip_57703	33358621	33358740	33358624	33358624	Nonsense_Mutation	C	T	p.R409*
HNSC	TCGA-BA-4076-01	exon_skip_57703	33358621	33358740	33358705	33358705	Nonsense_Mutation	G	T	p.E436*
BLCA	TCGA-DK-A3IT-01	exon_skip_57711 exon_skip_57719	33370068	33370364	33370177	33370177	Nonsense_Mutation	C	T	p.Q827*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BA-4076-01
	Cancer type: HNSC
	ESID: exon_skip_57703
	Skipped exon start: 33358621
	Skipped exon end: 33358740
	Mutation start: 33358705
	Mutation end: 33358705
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E436*
exon_skip_286384_HNSC_TCGA-BA-4076-01.png
exon_skip_379589_HNSC_TCGA-BA-4076-01.png
exon_skip_379590_HNSC_TCGA-BA-4076-01.png
exon_skip_57703_HNSC_TCGA-BA-4076-01.png
	Sample: TCGA-BR-8081-01
	Cancer type: STAD
	ESID: exon_skip_57703
	Skipped exon start: 33358621
	Skipped exon end: 33358740
	Mutation start: 33358693
	Mutation end: 33358694
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.R431fs
exon_skip_105957_STAD_TCGA-BR-8081-01.png
exon_skip_105958_STAD_TCGA-BR-8081-01.png
exon_skip_148026_STAD_TCGA-BR-8081-01.png
exon_skip_349801_STAD_TCGA-BR-8081-01.png
exon_skip_360490_STAD_TCGA-BR-8081-01.png
exon_skip_454428_STAD_TCGA-BR-8081-01.png
exon_skip_454431_STAD_TCGA-BR-8081-01.png
exon_skip_454433_STAD_TCGA-BR-8081-01.png
exon_skip_57703_STAD_TCGA-BR-8081-01.png
exon_skip_75990_STAD_TCGA-BR-8081-01.png
exon_skip_94164_STAD_TCGA-BR-8081-01.png
exon_skip_94165_STAD_TCGA-BR-8081-01.png
exon_skip_95877_STAD_TCGA-BR-8081-01.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
NCIH630_LARGE_INTESTINE	33358621	33358740	33358693	33358693	Frame_Shift_Del	T	-	p.F433fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	33358621	33358740	33358692	33358693	Frame_Shift_Ins	-	T	p.F432fs
SN12C_KIDNEY	33307959	33309057	33308013	33308013	Missense_Mutation	G	C	p.S18T
SW1783_CENTRAL_NERVOUS_SYSTEM	33307959	33309057	33308046	33308046	Missense_Mutation	A	G	p.E29G
SNU1214_UPPER_AERODIGESTIVE_TRACT	33307959	33309057	33308074	33308074	Missense_Mutation	A	C	p.R38S
SNU520_STOMACH	33307959	33309057	33308074	33308074	Missense_Mutation	A	C	p.R38S
SNU5_STOMACH	33307959	33309057	33308074	33308074	Missense_Mutation	A	C	p.R38S
SNU1040_LARGE_INTESTINE	33307959	33309057	33308135	33308135	Missense_Mutation	G	A	p.G59S
TE9_OESOPHAGUS	33307959	33309057	33308169	33308169	Missense_Mutation	G	C	p.R70T
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	33307959	33309057	33308210	33308210	Missense_Mutation	G	A	p.V84I
CHL1_SKIN	33307959	33309057	33308280	33308280	Missense_Mutation	C	T	p.P107L
HMCB_SKIN	33307959	33309057	33308280	33308280	Missense_Mutation	C	T	p.P107L
OVCAR4_OVARY	33307959	33309057	33308334	33308334	Missense_Mutation	G	A	p.C125Y
SNU1040_LARGE_INTESTINE	33307959	33309057	33308379	33308379	Missense_Mutation	C	T	p.A140V
HCC1954_BREAST	33307959	33309057	33308385	33308385	Missense_Mutation	A	G	p.Q142R
HCC1954_MATCHED_NORMAL_TISSUE	33307959	33309057	33308385	33308385	Missense_Mutation	A	G	p.Q142R
HEP3B217_LIVER	33307959	33309057	33308402	33308402	Missense_Mutation	T	C	p.S148P
HCC2450_LUNG	33307959	33309057	33308434	33308434	Missense_Mutation	G	T	p.M158I
ECC12_STOMACH	33307959	33309057	33308505	33308505	Missense_Mutation	A	G	p.Y182C
HEC251_ENDOMETRIUM	33307959	33309057	33308650	33308650	Missense_Mutation	T	G	p.N230K
HEC108_ENDOMETRIUM	33307959	33309057	33308667	33308667	Missense_Mutation	G	A	p.R236H
SW1463_LARGE_INTESTINE	33307959	33309057	33308681	33308681	Missense_Mutation	G	A	p.E241K
JHUEM7_ENDOMETRIUM	33307959	33309057	33308875	33308875	Missense_Mutation	A	C	p.Q305H
HEC6_ENDOMETRIUM	33307959	33309057	33308944	33308944	Missense_Mutation	T	G	p.I328M
SNU1040_LARGE_INTESTINE	33307959	33309057	33308984	33308984	Missense_Mutation	G	T	p.V342L
LS411N_LARGE_INTESTINE	33307959	33309057	33309039	33309039	Missense_Mutation	T	C	p.L360P
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	33350056	33350179	33350097	33350097	Missense_Mutation	T	C	p.I380T
BICR18_UPPER_AERODIGESTIVE_TRACT	33358621	33358740	33358703	33358703	Missense_Mutation	A	G	p.K435R
SNU283_LARGE_INTESTINE	33358621	33358740	33358715	33358715	Missense_Mutation	T	C	p.M439T
SKGIIIA_CERVIX	33358621	33358740	33358716	33358716	Missense_Mutation	G	A	p.M439I
UO31_KIDNEY	33369712	33369774	33369718	33369718	Missense_Mutation	T	G	p.I771M
BICR18_UPPER_AERODIGESTIVE_TRACT	33369712	33369774	33369726	33369726	Missense_Mutation	A	G	p.K774R
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	33369712	33369774	33369752	33369752	Missense_Mutation	G	A	p.E783K
BICR18_UPPER_AERODIGESTIVE_TRACT	33369712	33369774	33369770	33369770	Missense_Mutation	A	C	p.S789R
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	33370068	33370364	33370198	33370198	Missense_Mutation	A	G	p.R834G
SNU601_STOMACH	33370068	33370364	33370286	33370286	Missense_Mutation	C	T	p.P863L
HEC251_ENDOMETRIUM	33370068	33370364	33370338	33370338	Missense_Mutation	G	T	p.E880D
HUCCT1_BILIARY_TRACT	33370693	33370833	33370701	33370701	Missense_Mutation	G	A	p.G892D
JHUEM1_ENDOMETRIUM	33370693	33370833	33370722	33370722	Missense_Mutation	G	A	p.C899Y
NCIH64_LUNG	33370693	33370833	33370726	33370726	Missense_Mutation	G	T	p.Q900H
MFM223_BREAST	33370693	33370833	33370764	33370764	Missense_Mutation	G	T	p.S913I
LS411N_LARGE_INTESTINE	33370693	33370833	33370806	33370806	Missense_Mutation	G	T	p.S927I
BT20_BREAST	33370693	33370833	33370827	33370827	Missense_Mutation	C	G	p.P934R
SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	33307959	33309057	33308330	33308330	Nonsense_Mutation	C	T	p.R124*
HEC251_ENDOMETRIUM	33350056	33350179	33350168	33350168	Nonsense_Mutation	G	T	p.E404*
COLO794_SKIN	33370693	33370833	33370832	33370832	Splice_Site	A	G	p.S936G
COLO800_SKIN	33370693	33370833	33370832	33370832	Splice_Site	A	G	p.S936G
COLO818_SKIN	33370693	33370833	33370832	33370832	Splice_Site	A	G	p.S936G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HIPK3

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 HIPK3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HIPK3

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RelatedDrugs for HIPK3

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
	Q9H422	DB12010	Fostamatinib	Homeodomain-interacting protein kinase 3	small molecule	approved\|investigational

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RelatedDiseases for HIPK3

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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