ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ITPKB

Gene summary

Gene information	Gene symbol	ITPKB
	Gene ID	3707
	Gene name	inositol-trisphosphate 3-kinase B
	Synonyms	IP3-3KB\|IP3K\|IP3K-B\|IP3KB\|PIG37
	Cytomap	1q42.12
	Type of gene	protein-coding
	Description	inositol-trisphosphate 3-kinase BIP3 3-kinase BIP3K Binositol 1,4,5-trisphosphate 3-kinase BinsP 3-kinase Bproliferation-inducing protein 37
	Modification date	20180519
	UniProtAcc	P27987
	Context	PubMed: ITPKB [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
ITPKB	GO:0032957	inositol trisphosphate metabolic process	1654894
ITPKB	GO:0071277	cellular response to calcium ion	1654894

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Exon skipping events across known transcript of Ensembl for ITPKB 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 ITPKB

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 ITPKB

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_37644	1	226819390:226822587:226825379:226825451:226827257:226827359	226825379:226825451	ENSG00000143772.5	ENST00000429204.1,ENST00000272117.3
exon_skip_37645	1	226827257:226827359:226829621:226829826:226834867:226835081	226829621:226829826	ENSG00000143772.5	ENST00000429204.1,ENST00000272117.3
exon_skip_37649	1	226829621:226829826:226834867:226835081:226836372:226836472	226834867:226835081	ENSG00000143772.5	ENST00000429204.1,ENST00000272117.3
exon_skip_37651	1	226836372:226836472:226923227:226925364:226926741:226926864	226923227:226925364	ENSG00000143772.5	ENST00000429204.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ITPKB

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_37644	1	226819390:226822587:226825379:226825451:226827257:226827359	226825379:226825451	ENSG00000143772.5	ENST00000272117.3,ENST00000429204.1
exon_skip_37645	1	226827257:226827359:226829621:226829826:226834867:226835081	226829621:226829826	ENSG00000143772.5	ENST00000272117.3,ENST00000429204.1
exon_skip_37649	1	226829621:226829826:226834867:226835081:226836372:226836472	226834867:226835081	ENSG00000143772.5	ENST00000272117.3,ENST00000429204.1

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 ITPKB

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
ENST00000429204	226923227	226925364	3UTR-3CDS
ENST00000272117	226829621	226829826	Frame-shift
ENST00000429204	226829621	226829826	Frame-shift
ENST00000272117	226834867	226835081	Frame-shift
ENST00000429204	226834867	226835081	Frame-shift
ENST00000272117	226825379	226825451	In-frame
ENST00000429204	226825379	226825451	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
ENST00000272117	226829621	226829826	Frame-shift
ENST00000429204	226829621	226829826	Frame-shift
ENST00000272117	226834867	226835081	Frame-shift
ENST00000429204	226834867	226835081	Frame-shift
ENST00000272117	226825379	226825451	In-frame
ENST00000429204	226825379	226825451	In-frame

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

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
ENST00000272117	5839	946	226825379	226825451	2554	2625	851	875
ENST00000429204	6167	946	226825379	226825451	2882	2953	851	875

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
ENST00000272117	5839	946	226825379	226825451	2554	2625	851	875
ENST00000429204	6167	946	226825379	226825451	2882	2953	851	875

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
P27987	851	875	645	946	Alternative sequence	ID=VSP_016092;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P27987	851	875	645	946	Alternative sequence	ID=VSP_016092;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P27987	851	875	1	946	Chain	ID=PRO_0000066868;Note=Inositol-trisphosphate 3-kinase B
P27987	851	875	1	946	Chain	ID=PRO_0000066868;Note=Inositol-trisphosphate 3-kinase B

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
P27987	851	875	645	946	Alternative sequence	ID=VSP_016092;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P27987	851	875	645	946	Alternative sequence	ID=VSP_016092;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P27987	851	875	1	946	Chain	ID=PRO_0000066868;Note=Inositol-trisphosphate 3-kinase B
P27987	851	875	1	946	Chain	ID=PRO_0000066868;Note=Inositol-trisphosphate 3-kinase B

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SNVs in the skipped exons for ITPKB

- 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.

ITPKB_DLBC_exon_skip_37651_psi_boxplot.png
boxplot

ITPKB_ESCA_exon_skip_37651_psi_boxplot.png
boxplot

ITPKB_LUSC_exon_skip_37651_psi_boxplot.png
boxplot

ITPKB_STAD_exon_skip_37651_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-G3-A3CJ-01	exon_skip_37651	226923228	226925364	226923512	226923512	Frame_Shift_Del	G	-	p.Q550fs
LIHC	TCGA-DD-A1EG-01	exon_skip_37651	226923228	226925364	226923671	226923671	Frame_Shift_Del	C	-	p.D497fs
LIHC	TCGA-5C-A9VH-01	exon_skip_37651	226923228	226925364	226923826	226923826	Frame_Shift_Del	C	-	p.G445fs
STAD	TCGA-CG-4442-01	exon_skip_37651	226923228	226925364	226923855	226923855	Frame_Shift_Del	C	-	p.R436fs
LIHC	TCGA-DD-A3A0-01	exon_skip_37651	226923228	226925364	226924041	226924041	Frame_Shift_Del	C	-	p.G373fs
LIHC	TCGA-DD-A39Y-01	exon_skip_37651	226923228	226925364	226924169	226924169	Frame_Shift_Del	G	-	p.R331fs
LIHC	TCGA-DD-A1EG-01	exon_skip_37651	226923228	226925364	226924328	226924328	Frame_Shift_Del	T	-	p.R278fs
LIHC	TCGA-DD-A39Y-01	exon_skip_37651	226923228	226925364	226924397	226924397	Frame_Shift_Del	C	-	p.V255fs
CHOL	TCGA-ZH-A8Y2-01	exon_skip_37651	226923228	226925364	226923854	226923855	Frame_Shift_Ins	-	C	p.L436fs
STAD	TCGA-CD-8531-01	exon_skip_37651	226923228	226925364	226924472	226924473	Frame_Shift_Ins	-	CTGCGAGGAG	p.V230fs
STAD	TCGA-CD-8531-01	exon_skip_37651	226923228	226925364	226924473	226924474	Frame_Shift_Ins	-	CTGCGAGGAG	p.Q229fs
BRCA	TCGA-A8-A07C-01	exon_skip_37644	226825380	226825451	226825421	226825421	Nonsense_Mutation	G	A	p.R862*
SKCM	TCGA-D3-A51G-06	exon_skip_37644	226825380	226825451	226825421	226825421	Nonsense_Mutation	G	A	p.R862*
SKCM	TCGA-D3-A51G-06	exon_skip_37644	226825380	226825451	226825421	226825421	Nonsense_Mutation	G	A	p.R862X
LUSC	TCGA-85-6561-01	exon_skip_37651	226923228	226925364	226923323	226923323	Nonsense_Mutation	C	A	p.E613*
ESCA	TCGA-JY-A93C-01	exon_skip_37651	226923228	226925364	226923581	226923581	Nonsense_Mutation	G	A	p.Q527*
ESCA	TCGA-JY-A93C-01	exon_skip_37651	226923228	226925364	226923581	226923581	Nonsense_Mutation	G	A	p.Q527X
DLBC	TCGA-GS-A9TT-01	exon_skip_37651	226923228	226925364	226924565	226924565	Nonsense_Mutation	C	A	p.E199X

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CD-8531-01
	Cancer type: STAD
	ESID: exon_skip_37651
	Skipped exon start: 226923228
	Skipped exon end: 226925364
	Mutation start: 226924472
	Mutation end: 226924473
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: CTGCGAGGAG
	AAchange: p.V230fs
	Sample: TCGA-CD-8531-01
	Cancer type: STAD
	ESID: exon_skip_37651
	Skipped exon start: 226923228
	Skipped exon end: 226925364
	Mutation start: 226924473
	Mutation end: 226924474
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: CTGCGAGGAG
	AAchange: p.Q229fs
exon_skip_37651_STAD_TCGA-CD-8531-01.png
exon_skip_451386_STAD_TCGA-CD-8531-01.png
exon_skip_451390_STAD_TCGA-CD-8531-01.png
exon_skip_451391_STAD_TCGA-CD-8531-01.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
CORL303_LUNG	226834868	226835081	226834890	226834891	Frame_Shift_Del	TC	-	p.M742fs
KM12_LARGE_INTESTINE	226923228	226925364	226924541	226924541	Frame_Shift_Del	C	-	p.E207fs
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924577	226924592	Frame_Shift_Del	CGCCCTGAACCAGGAC	-	p.VLVQGA190fs
SNUC2A_LARGE_INTESTINE	226923228	226925364	226924600	226924600	Frame_Shift_Del	G	-	p.P187fs
AN3CA_ENDOMETRIUM	226923228	226925364	226924600	226924600	Frame_Shift_Del	G	-	p.P187fs
SNUC2B_LARGE_INTESTINE	226923228	226925364	226924600	226924600	Frame_Shift_Del	G	-	p.P187fs
HCT116_LARGE_INTESTINE	226923228	226925364	226924040	226924041	Frame_Shift_Ins	-	C	p.K374fs
SISO_CERVIX	226923228	226925364	226924540	226924541	Frame_Shift_Ins	-	C	p.E207fs
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226923913	226923930	In_Frame_Del	CTGGGCAGCCTGGACCAG	-	p.SWSRLP410del
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924929	226924946	In_Frame_Del	GCTCCGCCAGCCCCCGGG	-	p.PGGWRS72del
MM426_SKIN	226825380	226825451	226825420	226825420	Missense_Mutation	C	T	p.R862Q
NCIH2085_LUNG	226829622	226829826	226829672	226829672	Missense_Mutation	C	G	p.E801Q
MEWO_SKIN	226829622	226829826	226829728	226829728	Missense_Mutation	G	A	p.T782I
CW2_LARGE_INTESTINE	226829622	226829826	226829736	226829736	Missense_Mutation	C	A	p.E779D
LS411N_LARGE_INTESTINE	226834868	226835081	226834901	226834901	Missense_Mutation	G	A	p.S738L
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226834868	226835081	226834905	226834905	Missense_Mutation	C	T	p.D737N
BE2M17_AUTONOMIC_GANGLIA	226834868	226835081	226834926	226834926	Missense_Mutation	C	T	p.D730N
HT1376_URINARY_TRACT	226834868	226835081	226835021	226835021	Missense_Mutation	C	T	p.R698H
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226834868	226835081	226835042	226835042	Missense_Mutation	T	A	p.K691M
NCIH647_LUNG	226834868	226835081	226835058	226835058	Missense_Mutation	C	T	p.G686S
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226923441	226923441	Missense_Mutation	G	C	p.D573E
HEC1B_ENDOMETRIUM	226923228	226925364	226923443	226923443	Missense_Mutation	C	A	p.D573Y
LAMA84_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226923501	226923501	Missense_Mutation	G	C	p.D553E
KS1_CENTRAL_NERVOUS_SYSTEM	226923228	226925364	226923514	226923514	Missense_Mutation	G	C	p.P549R
RERFLCFM_LUNG	226923228	226925364	226923514	226923514	Missense_Mutation	G	C	p.P549R
RERFLCMS_LUNG	226923228	226925364	226923514	226923514	Missense_Mutation	G	C	p.P549R
EMCBAC2_LUNG	226923228	226925364	226923584	226923584	Missense_Mutation	C	T	p.V526M
PECAPJ15_UPPER_AERODIGESTIVE_TRACT	226923228	226925364	226923596	226923596	Missense_Mutation	G	A	p.R522C
LNCAPCLONEFGC_PROSTATE	226923228	226925364	226923652	226923652	Missense_Mutation	G	T	p.P503H
OVK18_OVARY	226923228	226925364	226923667	226923667	Missense_Mutation	C	A	p.R498M
A498_KIDNEY	226923228	226925364	226923682	226923682	Missense_Mutation	C	A	p.C493F
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226923688	226923688	Missense_Mutation	G	C	p.P491R
HMY1_SKIN	226923228	226925364	226923701	226923701	Missense_Mutation	C	A	p.D487Y
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226923751	226923751	Missense_Mutation	A	G	p.I470T
NCIH1184_LUNG	226923228	226925364	226923757	226923757	Missense_Mutation	G	A	p.A468V
SNUC5_LARGE_INTESTINE	226923228	226925364	226923799	226923799	Missense_Mutation	C	T	p.G454E
MEWO_SKIN	226923228	226925364	226923803	226923803	Missense_Mutation	G	A	p.L453F
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226923835	226923835	Missense_Mutation	C	T	p.R442K
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226923860	226923860	Missense_Mutation	C	T	p.G434R
SUPB8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226923860	226923860	Missense_Mutation	C	A	p.G434W
LS411N_LARGE_INTESTINE	226923228	226925364	226923866	226923866	Missense_Mutation	C	T	p.V432M
SNU1040_LARGE_INTESTINE	226923228	226925364	226923994	226923994	Missense_Mutation	A	G	p.V389A
EN_ENDOMETRIUM	226923228	226925364	226924051	226924051	Missense_Mutation	C	A	p.G370V
HEC6_ENDOMETRIUM	226923228	226925364	226924055	226924055	Missense_Mutation	G	A	p.P369S
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	226923228	226925364	226924210	226924210	Missense_Mutation	C	T	p.R317H
NCIH520_LUNG	226923228	226925364	226924281	226924281	Missense_Mutation	C	G	p.L293F
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924292	226924292	Missense_Mutation	C	T	p.A290T
EKVX_LUNG	226923228	226925364	226924306	226924306	Missense_Mutation	G	T	p.T285N
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924324	226924324	Missense_Mutation	C	T	p.G279D
NCIH2110_LUNG	226923228	226925364	226924366	226924366	Missense_Mutation	G	T	p.P265H
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924406	226924406	Missense_Mutation	A	G	p.S252P
NCIH69_LUNG	226923228	226925364	226924409	226924409	Missense_Mutation	G	T	p.P251T
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924441	226924441	Missense_Mutation	C	A	p.R240L
SNU175_LARGE_INTESTINE	226923228	226925364	226924463	226924463	Missense_Mutation	C	T	p.G233R
KALS1_CENTRAL_NERVOUS_SYSTEM	226923228	226925364	226924472	226924472	Missense_Mutation	C	G	p.V230L
RH28_SOFT_TISSUE	226923228	226925364	226924496	226924496	Missense_Mutation	C	G	p.G222R
PACADD137_PANCREAS	226923228	226925364	226924504	226924504	Missense_Mutation	C	T	p.R219K
NCIH2172_LUNG	226923228	226925364	226924544	226924544	Missense_Mutation	C	A	p.G206W
DOV13_OVARY	226923228	226925364	226924562	226924562	Missense_Mutation	G	C	p.R200G
PSN1_PANCREAS	226923228	226925364	226924573	226924573	Missense_Mutation	C	T	p.R196Q
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924625	226924625	Missense_Mutation	G	A	p.P179S
TFK1_BILIARY_TRACT	226923228	226925364	226924660	226924660	Missense_Mutation	G	A	p.P167L
KMRC3_KIDNEY	226923228	226925364	226924660	226924660	Missense_Mutation	G	A	p.P167L
RERFGC1B_STOMACH	226923228	226925364	226924660	226924660	Missense_Mutation	G	A	p.P167L
CCK81_LARGE_INTESTINE	226923228	226925364	226924660	226924660	Missense_Mutation	G	A	p.P167L
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924660	226924660	Missense_Mutation	G	A	p.P167L
HN_UPPER_AERODIGESTIVE_TRACT	226923228	226925364	226924660	226924660	Missense_Mutation	G	A	p.P167L
KYSE50_OESOPHAGUS	226923228	226925364	226924660	226924660	Missense_Mutation	G	A	p.P167L
LU135_LUNG	226923228	226925364	226924660	226924660	Missense_Mutation	G	A	p.P167L
P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924660	226924660	Missense_Mutation	G	A	p.P167L
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924660	226924660	Missense_Mutation	G	A	p.P167L
TOV21G_OVARY	226923228	226925364	226924666	226924666	Missense_Mutation	C	T	p.R165H
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924681	226924681	Missense_Mutation	G	C	p.A160G
LS411N_LARGE_INTESTINE	226923228	226925364	226924685	226924685	Missense_Mutation	A	G	p.S159P
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924721	226924721	Missense_Mutation	C	G	p.V147L
HCT15_LARGE_INTESTINE	226923228	226925364	226924792	226924792	Missense_Mutation	C	A	p.G123V
HS445_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924831	226924831	Missense_Mutation	C	T	p.R110Q
HCC2450_LUNG	226923228	226925364	226924853	226924853	Missense_Mutation	C	A	p.A103S
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226924864	226924864	Missense_Mutation	C	A	p.S99I
HCC1438_LUNG	226923228	226925364	226924918	226924918	Missense_Mutation	C	A	p.R81M
BICR56_UPPER_AERODIGESTIVE_TRACT	226923228	226925364	226924964	226924965	Missense_Mutation	GG	AA	p.P66S
OV17R_OVARY	226923228	226925364	226924981	226924981	Missense_Mutation	G	T	p.P60Q
LNCAPCLONEFGC_PROSTATE	226923228	226925364	226925068	226925068	Missense_Mutation	C	T	p.S31N
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226925103	226925103	Missense_Mutation	C	G	p.E19D
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226925113	226925113	Missense_Mutation	C	T	p.S16N
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	226923228	226925364	226925153	226925153	Missense_Mutation	C	T	p.V3M
HCT15_LARGE_INTESTINE	226829622	226829826	226829676	226829676	Nonsense_Mutation	C	T	p.W799*
HCC2998_LARGE_INTESTINE	226923228	226925364	226923849	226923849	Nonsense_Mutation	C	T	p.W437*

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

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 ITPKB

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

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RelatedDrugs for ITPKB

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 ITPKB

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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