ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for HIVEP1

Gene summary

Gene information	Gene symbol	HIVEP1
	Gene ID	3096
	Gene name	human immunodeficiency virus type I enhancer binding protein 1
	Synonyms	CIRIP\|CRYBP1\|GAAP\|MBP-1\|PRDII-BF1\|Schnurri-1\|ZAS1\|ZNF40\|ZNF40A
	Cytomap	6p24.1
	Type of gene	protein-coding
	Description	zinc finger protein 40cirhin interaction proteingate keeper of apoptosis-activating proteinmajor histocompatibility complex binding protein 1positive regulatory domain II binding factor 1
	Modification date	20180523
	UniProtAcc	P15822
	Context	PubMed: HIVEP1 [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 HIVEP1 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 HIVEP1

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 HIVEP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_447958	6	12015819:12015901:12020480:12020651:12089416:12089470	12020480:12020651	ENSG00000095951.12	ENST00000442081.2
exon_skip_447960	6	12015819:12015901:12089416:12089470:12120122:12120167	12089416:12089470	ENSG00000095951.12	ENST00000487103.1,ENST00000478545.1,ENST00000379388.2,ENST00000491710.1
exon_skip_447961	6	12089416:12089470:12120122:12126103:12129991:12130125	12120122:12126103	ENSG00000095951.12	ENST00000379388.2
exon_skip_447963	6	12125978:12126103:12129991:12130125:12130999:12131175	12129991:12130125	ENSG00000095951.12	ENST00000379388.2
exon_skip_447965	6	12125978:12126103:12130999:12131175:12161671:12162124	12130999:12131175	ENSG00000095951.12	ENST00000541134.1,ENST00000399469.2
exon_skip_447967	6	12130999:12131175:12136023:12136125:12161671:12162124	12136023:12136125	ENSG00000095951.12	ENST00000379388.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for HIVEP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_447958	6	12015819:12015901:12020480:12020651:12089416:12089470	12020480:12020651	ENSG00000095951.12	ENST00000442081.2
exon_skip_447960	6	12015819:12015901:12089416:12089470:12120122:12120167	12089416:12089470	ENSG00000095951.12	ENST00000491710.1,ENST00000487103.1,ENST00000379388.2,ENST00000478545.1
exon_skip_447961	6	12089416:12089470:12120122:12126103:12129991:12130125	12120122:12126103	ENSG00000095951.12	ENST00000379388.2
exon_skip_447963	6	12125978:12126103:12129991:12130125:12130999:12131175	12129991:12130125	ENSG00000095951.12	ENST00000379388.2
exon_skip_447965	6	12125978:12126103:12130999:12131175:12161671:12162124	12130999:12131175	ENSG00000095951.12	ENST00000399469.2,ENST00000541134.1
exon_skip_447967	6	12130999:12131175:12136023:12136125:12161671:12162124	12136023:12136125	ENSG00000095951.12	ENST00000379388.2

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 HIVEP1

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
ENST00000379388	12120122	12126103	Frame-shift
ENST00000379388	12129991	12130125	Frame-shift
ENST00000379388	12089416	12089470	In-frame
ENST00000379388	12136023	12136125	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
ENST00000379388	12120122	12126103	Frame-shift
ENST00000379388	12129991	12130125	Frame-shift
ENST00000379388	12089416	12089470	In-frame
ENST00000379388	12136023	12136125	In-frame

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Infer the effects of exon skipping event on protein functional features for HIVEP1

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
ENST00000379388	9044	2718	12089416	12089470	373	426	13	31
ENST00000379388	9044	2718	12136023	12136125	6718	6819	2128	2162

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
ENST00000379388	9044	2718	12089416	12089470	373	426	13	31
ENST00000379388	9044	2718	12136023	12136125	6718	6819	2128	2162

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
P15822	13	31	1	2017	Alternative sequence	ID=VSP_037714;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P15822	13	31	1	2002	Alternative sequence	ID=VSP_037715;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P15822	13	31	1	2718	Chain	ID=PRO_0000047369;Note=Zinc finger protein 40
P15822	2128	2162	2137	2140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BBO
P15822	2128	2162	1	2718	Chain	ID=PRO_0000047369;Note=Zinc finger protein 40
P15822	2128	2162	2128	2136	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BBO
P15822	2128	2162	2149	2149	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15822	2128	2162	2116	2140	Zinc finger	Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042

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
P15822	13	31	1	2017	Alternative sequence	ID=VSP_037714;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P15822	13	31	1	2002	Alternative sequence	ID=VSP_037715;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
P15822	13	31	1	2718	Chain	ID=PRO_0000047369;Note=Zinc finger protein 40
P15822	2128	2162	2137	2140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BBO
P15822	2128	2162	1	2718	Chain	ID=PRO_0000047369;Note=Zinc finger protein 40
P15822	2128	2162	2128	2136	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BBO
P15822	2128	2162	2149	2149	Sequence conflict	Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15822	2128	2162	2116	2140	Zinc finger	Note=C2H2-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042

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SNVs in the skipped exons for HIVEP1

- 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.

HIVEP1_COAD_exon_skip_447961_psi_boxplot.png
boxplot

HIVEP1_ESCA_exon_skip_447961_psi_boxplot.png
boxplot

HIVEP1_PRAD_exon_skip_447961_psi_boxplot.png
boxplot

HIVEP1_SKCM_exon_skip_447961_psi_boxplot.png
boxplot

HIVEP1_STAD_exon_skip_447961_psi_boxplot.png
boxplot

HIVEP1_TGCT_exon_skip_447961_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-A1EG-01	exon_skip_447960	12089417	12089470	12089463	12089463	Frame_Shift_Del	A	-	p.S29fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447960	12089417	12089470	12089463	12089463	Frame_Shift_Del	A	-	p.S29fs
STAD	TCGA-BR-A4QL-01	exon_skip_447960	12089417	12089470	12089463	12089463	Frame_Shift_Del	A	-	p.S29fs
STAD	TCGA-BR-A4QL-01	exon_skip_447960	12089417	12089470	12089463	12089463	Frame_Shift_Del	A	-	p.S29X
UCEC	TCGA-BS-A0UM-01	exon_skip_447960	12089417	12089470	12089463	12089463	Frame_Shift_Del	A	-	p.S29fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447961	12120123	12126103	12120206	12120206	Frame_Shift_Del	A	-	p.K61fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447961	12120123	12126103	12120222	12120222	Frame_Shift_Del	C	-	p.S65fs
LIHC	TCGA-DD-A39Y-01	exon_skip_447961	12120123	12126103	12120428	12120428	Frame_Shift_Del	C	-	p.P134fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447961	12120123	12126103	12120663	12120663	Frame_Shift_Del	A	-	p.Q212fs
LIHC	TCGA-DD-A3A0-01	exon_skip_447961	12120123	12126103	12120736	12120736	Frame_Shift_Del	A	-	p.L236fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447961	12120123	12126103	12121133	12121133	Frame_Shift_Del	C	-	p.P370fs
STAD	TCGA-HU-A4H4-01	exon_skip_447961	12120123	12126103	12121228	12121228	Frame_Shift_Del	A	-	p.P400fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447961	12120123	12126103	12121631	12121631	Frame_Shift_Del	C	-	p.P535fs
SKCM	TCGA-FS-A4F9-06	exon_skip_447961	12120123	12126103	12121702	12121703	Frame_Shift_Del	AG	-	p.558_558del
SKCM	TCGA-FS-A4F9-06	exon_skip_447961	12120123	12126103	12121702	12121703	Frame_Shift_Del	AG	-	p.TE558fs
LIHC	TCGA-BC-A3KG-01	exon_skip_447961	12120123	12126103	12121872	12121872	Frame_Shift_Del	G	-	p.R615fs
TGCT	TCGA-S6-A8JY-01	exon_skip_447961	12120123	12126103	12121882	12121883	Frame_Shift_Del	TA	-	p.618_618del
TGCT	TCGA-S6-A8JY-01	exon_skip_447961	12120123	12126103	12121882	12121883	Frame_Shift_Del	TA	-	p.TN618fs
STAD	TCGA-EQ-A4SO-01	exon_skip_447961	12120123	12126103	12121963	12121978	Frame_Shift_Del	GCTACAAAGGCAGCAG	-	p.645_650del
STAD	TCGA-EQ-A4SO-01	exon_skip_447961	12120123	12126103	12121963	12121978	Frame_Shift_Del	GCTACAAAGGCAGCAG	-	p.Q645fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447961	12120123	12126103	12122481	12122481	Frame_Shift_Del	A	-	p.E818fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447961	12120123	12126103	12122705	12122705	Frame_Shift_Del	C	-	p.P893fs
LIHC	TCGA-DD-A39Y-01	exon_skip_447961	12120123	12126103	12122963	12122963	Frame_Shift_Del	A	-	p.K979fs
COAD	TCGA-AD-5900-01	exon_skip_447961	12120123	12126103	12123115	12123115	Frame_Shift_Del	A	-	p.R1029fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447961	12120123	12126103	12123182	12123182	Frame_Shift_Del	C	-	p.P1052fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447961	12120123	12126103	12124165	12124165	Frame_Shift_Del	G	-	p.E1379fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447961	12120123	12126103	12124209	12124209	Frame_Shift_Del	C	-	p.T1394fs
LIHC	TCGA-WQ-A9G7-01	exon_skip_447961	12120123	12126103	12124209	12124209	Frame_Shift_Del	C	-	p.T1394fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447961	12120123	12126103	12124423	12124423	Frame_Shift_Del	G	-	p.Q1465fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447961	12120123	12126103	12124913	12124913	Frame_Shift_Del	A	-	p.K1629fs
LIHC	TCGA-DD-A39Y-01	exon_skip_447961	12120123	12126103	12125097	12125097	Frame_Shift_Del	A	-	p.Q1690fs
LIHC	TCGA-DD-A39Y-01	exon_skip_447961	12120123	12126103	12125210	12125210	Frame_Shift_Del	A	-	p.K1728fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447961	12120123	12126103	12125232	12125232	Frame_Shift_Del	C	-	p.S1735fs
LIHC	TCGA-DD-A3A0-01	exon_skip_447961	12120123	12126103	12125331	12125331	Frame_Shift_Del	A	-	p.E1768fs
PRAD	TCGA-XK-AAIW-01	exon_skip_447961	12120123	12126103	12125469	12125469	Frame_Shift_Del	A	-	p.E1814fs
KIRP	TCGA-SX-A71U-01	exon_skip_447961	12120123	12126103	12125716	12125716	Frame_Shift_Del	G	-	p.K1896fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447961	12120123	12126103	12125852	12125852	Frame_Shift_Del	T	-	p.F1942fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447961	12120123	12126103	12125852	12125852	Frame_Shift_Del	T	-	p.F1942fs
STAD	TCGA-BR-8382-01	exon_skip_447960	12089417	12089470	12089462	12089463	Frame_Shift_Ins	-	A	p.S29fs
STAD	TCGA-BR-8382-01	exon_skip_447960	12089417	12089470	12089463	12089464	Frame_Shift_Ins	-	A	p.S29fs
STAD	TCGA-CG-5726-01	exon_skip_447961	12120123	12126103	12120205	12120206	Frame_Shift_Ins	-	A	p.L59fs
STAD	TCGA-CG-5726-01	exon_skip_447961	12120123	12126103	12120206	12120207	Frame_Shift_Ins	-	A	p.L59fs
STAD	TCGA-BR-8591-01	exon_skip_447961	12120123	12126103	12122471	12122472	Frame_Shift_Ins	-	C	p.T815fs
STAD	TCGA-BR-8591-01	exon_skip_447961	12120123	12126103	12122472	12122473	Frame_Shift_Ins	-	C	p.T815fs
CESC	TCGA-EA-A410-01	exon_skip_447961	12120123	12126103	12123569	12123570	Frame_Shift_Ins	-	A	p.E1182fs
KIRP	TCGA-UZ-A9PP-01	exon_skip_447961	12120123	12126103	12123780	12123781	Frame_Shift_Ins	-	C	p.C1251fs
LIHC	TCGA-DD-A1EH-01	exon_skip_447961	12120123	12126103	12125147	12125148	Frame_Shift_Ins	-	A	p.E1707fs
LIHC	TCGA-DD-A1EH-01	exon_skip_447961	12120123	12126103	12125147	12125148	Frame_Shift_Ins	-	A	p.K1707fs
SKCM	TCGA-EB-A41A-01	exon_skip_447961	12120123	12126103	12120155	12120155	Nonsense_Mutation	G	T	p.E43*
SKCM	TCGA-EB-A41A-01	exon_skip_447961	12120123	12126103	12120155	12120155	Nonsense_Mutation	G	T	p.E43X
LIHC	TCGA-DD-A73B-01	exon_skip_447961	12120123	12126103	12120242	12120242	Nonsense_Mutation	C	T	p.Q72*
LIHC	TCGA-DD-A73B-01	exon_skip_447961	12120123	12126103	12120242	12120242	Nonsense_Mutation	C	T	p.Q72X
HNSC	TCGA-CN-6011-01	exon_skip_447961	12120123	12126103	12120396	12120396	Nonsense_Mutation	C	G	p.S123*
SKCM	TCGA-GN-A4U4-06	exon_skip_447961	12120123	12126103	12120836	12120836	Nonsense_Mutation	C	T	p.Q270*
LUAD	TCGA-55-A4DF-01	exon_skip_447961	12120123	12126103	12120884	12120884	Nonsense_Mutation	C	T	p.Q286*
SKCM	TCGA-EE-A2GJ-06	exon_skip_447961	12120123	12126103	12121520	12121520	Nonsense_Mutation	G	T	p.E498*
SKCM	TCGA-EE-A2GJ-06	exon_skip_447961	12120123	12126103	12121520	12121520	Nonsense_Mutation	G	T	p.E498X
LUAD	TCGA-35-4122-01	exon_skip_447961	12120123	12126103	12122960	12122960	Nonsense_Mutation	A	T	p.K978*
BLCA	TCGA-BT-A3PH-01	exon_skip_447961	12120123	12126103	12123624	12123624	Nonsense_Mutation	C	G	p.S1199*
COAD	TCGA-AA-3713-01	exon_skip_447961	12120123	12126103	12123814	12123814	Nonsense_Mutation	G	A	p.W1262X
LUAD	TCGA-78-7539-01	exon_skip_447961	12120123	12126103	12123906	12123906	Nonsense_Mutation	C	G	p.S1293*
LUAD	TCGA-55-A494-01	exon_skip_447961	12120123	12126103	12124184	12124184	Nonsense_Mutation	A	T	p.K1386*
SKCM	TCGA-OD-A75X-06	exon_skip_447961	12120123	12126103	12124262	12124262	Nonsense_Mutation	C	T	p.R1412*
SKCM	TCGA-EE-A3AG-06	exon_skip_447961	12120123	12126103	12124382	12124382	Nonsense_Mutation	C	T	p.Q1452*
SKCM	TCGA-EE-A3AG-06	exon_skip_447961	12120123	12126103	12124382	12124382	Nonsense_Mutation	C	T	p.Q1452X
BLCA	TCGA-DK-A3WW-01	exon_skip_447961	12120123	12126103	12124515	12124515	Nonsense_Mutation	C	G	p.S1496*
BLCA	TCGA-BT-A20O-01	exon_skip_447961	12120123	12126103	12125108	12125108	Nonsense_Mutation	C	T	p.Q1694*
KIRC	TCGA-CZ-5470-01	exon_skip_447961	12120123	12126103	12125187	12125187	Nonsense_Mutation	C	A	p.S1720X
ESCA	TCGA-LN-A4A2-01	exon_skip_447961	12120123	12126103	12125243	12125243	Nonsense_Mutation	G	T	p.E1739*
BLCA	TCGA-DK-A6AW-01	exon_skip_447961	12120123	12126103	12125642	12125642	Nonsense_Mutation	C	T	p.R1872*
READ	TCGA-F5-6814-01	exon_skip_447961	12120123	12126103	12125642	12125642	Nonsense_Mutation	C	T	p.R1872X
SKCM	TCGA-D3-A2J8-06	exon_skip_447961	12120123	12126103	12125859	12125859	Nonsense_Mutation	G	A	p.W1944*
SKCM	TCGA-D3-A2J8-06	exon_skip_447961	12120123	12126103	12125859	12125859	Nonsense_Mutation	G	A	p.W1944X
ESCA	TCGA-L5-A88V-01	exon_skip_447961	12120123	12126103	12126085	12126085	Nonsense_Mutation	G	A	p.W2019*
ESCA	TCGA-L5-A88V-01	exon_skip_447961	12120123	12126103	12126085	12126085	Nonsense_Mutation	G	A	p.W2019X
STAD	TCGA-CG-5721-01		12131000	12131175	12131031	12131031	Nonsense_Mutation	C	T	p.R2081*
STAD	TCGA-CG-5721-01		12131000	12131175	12131031	12131031	Nonsense_Mutation	C	T	p.R2081X

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-L5-A88V-01
	Cancer type: ESCA
	ESID: exon_skip_447961
	Skipped exon start: 12120123
	Skipped exon end: 12126103
	Mutation start: 12126085
	Mutation end: 12126085
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W2019X
	Sample: TCGA-L5-A88V-01
	Cancer type: ESCA
	ESID: exon_skip_447961
	Skipped exon start: 12120123
	Skipped exon end: 12126103
	Mutation start: 12126085
	Mutation end: 12126085
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W2019*
exon_skip_447961_ESCA_TCGA-L5-A88V-01.png
	Sample: TCGA-HU-A4H4-01
	Cancer type: STAD
	ESID: exon_skip_447961
	Skipped exon start: 12120123
	Skipped exon end: 12126103
	Mutation start: 12121228
	Mutation end: 12121228
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.P400fs
exon_skip_124783_STAD_TCGA-HU-A4H4-01.png
exon_skip_23399_STAD_TCGA-HU-A4H4-01.png
exon_skip_338795_STAD_TCGA-HU-A4H4-01.png
exon_skip_338798_STAD_TCGA-HU-A4H4-01.png
exon_skip_359435_STAD_TCGA-HU-A4H4-01.png
exon_skip_447961_STAD_TCGA-HU-A4H4-01.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
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12089417	12089470	12089463	12089463	Frame_Shift_Del	A	-	p.S29fs
MFE319_ENDOMETRIUM	12089417	12089470	12089463	12089463	Frame_Shift_Del	A	-	p.S29fs
HEC108_ENDOMETRIUM	12120123	12126103	12120334	12120334	Frame_Shift_Del	A	-	p.V102fs
HEC151_ENDOMETRIUM	12120123	12126103	12121228	12121228	Frame_Shift_Del	A	-	p.P400fs
JHUEM1_ENDOMETRIUM	12120123	12126103	12121228	12121228	Frame_Shift_Del	A	-	p.P400fs
EN_ENDOMETRIUM	12120123	12126103	12121228	12121228	Frame_Shift_Del	A	-	p.P400fs
LS411N_LARGE_INTESTINE	12120123	12126103	12123426	12123427	Frame_Shift_Del	TC	-	p.I1133fs
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12120735	12120736	Frame_Shift_Ins	-	A	p.LK236fs
SISO_CERVIX	12120123	12126103	12121227	12121228	Frame_Shift_Ins	-	A	p.PK400fs
HEC108_ENDOMETRIUM	12120123	12126103	12121227	12121228	Frame_Shift_Ins	-	A	p.PK400fs
IM95_STOMACH	12120123	12126103	12121227	12121228	Frame_Shift_Ins	-	A	p.PK400fs
LS411N_LARGE_INTESTINE	12120123	12126103	12121227	12121228	Frame_Shift_Ins	-	A	p.PK400fs
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12121227	12121228	Frame_Shift_Ins	-	A	p.PK400fs
BEN_LUNG	12120123	12126103	12121227	12121228	Frame_Shift_Ins	-	A	p.PK400fs
RERFLCMS_LUNG	12120123	12126103	12121227	12121228	Frame_Shift_Ins	-	A	p.PK400fs
RMUGS_OVARY	12120123	12126103	12121227	12121228	Frame_Shift_Ins	-	A	p.PK400fs
SCABER_URINARY_TRACT	12120123	12126103	12121227	12121228	Frame_Shift_Ins	-	A	p.PK400fs
SCC4_UPPER_AERODIGESTIVE_TRACT	12120123	12126103	12121227	12121228	Frame_Shift_Ins	-	A	p.PK400fs
PACADD137_PANCREAS	12120123	12126103	12122635	12122636	Frame_Shift_Ins	-	A	p.K870fs
COLO668_LUNG	12120123	12126103	12123744	12123745	Frame_Shift_Ins	-	C	p.T1240fs
BICR18_UPPER_AERODIGESTIVE_TRACT	12120123	12126103	12125153	12125154	Frame_Shift_Ins	-	T	p.V1709fs
LS180_LARGE_INTESTINE	12120123	12126103	12125153	12125154	Frame_Shift_Ins	-	T	p.V1709fs
PATU8988S_PANCREAS	12120123	12126103	12125153	12125154	Frame_Shift_Ins	-	T	p.V1709fs
SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12125153	12125154	Frame_Shift_Ins	-	T	p.V1709fs
EN_ENDOMETRIUM	12120123	12126103	12125477	12125478	Frame_Shift_Ins	-	T	p.V1817fs
NCIH1648_LUNG	12120123	12126103	12122176	12122177	In_Frame_Ins	-	TCAACA	p.717_717S>STS
SW684_SOFT_TISSUE	12120123	12126103	12120215	12120215	Missense_Mutation	C	T	p.P63S
MEWO_SKIN	12120123	12126103	12120236	12120236	Missense_Mutation	C	T	p.P70S
HEC1A_ENDOMETRIUM	12120123	12126103	12120281	12120281	Missense_Mutation	G	A	p.A85T
HEC1_ENDOMETRIUM	12120123	12126103	12120281	12120281	Missense_Mutation	G	A	p.A85T
HEC1B_ENDOMETRIUM	12120123	12126103	12120281	12120281	Missense_Mutation	G	A	p.A85T
LB1047RCC_KIDNEY	12120123	12126103	12120291	12120291	Missense_Mutation	A	G	p.H88R
HEC59_ENDOMETRIUM	12120123	12126103	12120300	12120300	Missense_Mutation	C	T	p.S91L
BICR18_UPPER_AERODIGESTIVE_TRACT	12120123	12126103	12120674	12120674	Missense_Mutation	C	T	p.P216S
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12120720	12120720	Missense_Mutation	G	A	p.R231H
DMS153_LUNG	12120123	12126103	12120744	12120744	Missense_Mutation	G	A	p.S239N
RL952_ENDOMETRIUM	12120123	12126103	12120766	12120766	Missense_Mutation	G	C	p.Q246H
HCC2814_LUNG	12120123	12126103	12120781	12120781	Missense_Mutation	G	T	p.L251F
HEC1A_ENDOMETRIUM	12120123	12126103	12120841	12120841	Missense_Mutation	G	T	p.K271N
NCIH1693_LUNG	12120123	12126103	12121029	12121029	Missense_Mutation	T	C	p.V334A
SW48_LARGE_INTESTINE	12120123	12126103	12121065	12121065	Missense_Mutation	C	T	p.T346I
SNU308_BILIARY_TRACT	12120123	12126103	12121089	12121089	Missense_Mutation	C	G	p.S354C
SNU1040_LARGE_INTESTINE	12120123	12126103	12121176	12121176	Missense_Mutation	T	C	p.V383A
NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12121181	12121181	Missense_Mutation	C	G	p.Q385E
IM95_STOMACH	12120123	12126103	12121397	12121397	Missense_Mutation	G	A	p.A457T
GP2D_LARGE_INTESTINE	12120123	12126103	12121602	12121602	Missense_Mutation	C	T	p.A525V
GP5D_LARGE_INTESTINE	12120123	12126103	12121602	12121602	Missense_Mutation	C	T	p.A525V
HEC108_ENDOMETRIUM	12120123	12126103	12121710	12121710	Missense_Mutation	C	T	p.P561L
H3118_UPPER_AERODIGESTIVE_TRACT	12120123	12126103	12121721	12121721	Missense_Mutation	G	T	p.V565F
AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12121779	12121779	Missense_Mutation	A	G	p.K584R
SNU1040_LARGE_INTESTINE	12120123	12126103	12121845	12121845	Missense_Mutation	C	T	p.A606V
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12121916	12121916	Missense_Mutation	C	A	p.P630T
VAESBJ_SOFT_TISSUE	12120123	12126103	12121943	12121943	Missense_Mutation	G	A	p.V639I
SARC9371_BONE	12120123	12126103	12122040	12122040	Missense_Mutation	C	T	p.T671M
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12122121	12122121	Missense_Mutation	G	A	p.S698N
HEC1A_ENDOMETRIUM	12120123	12126103	12122190	12122190	Missense_Mutation	C	T	p.A721V
SNU81_LARGE_INTESTINE	12120123	12126103	12122274	12122274	Missense_Mutation	C	T	p.S749L
HEC108_ENDOMETRIUM	12120123	12126103	12122336	12122336	Missense_Mutation	C	T	p.R770W
CORL47_LUNG	12120123	12126103	12122376	12122376	Missense_Mutation	C	T	p.P783L
SNUC4_LARGE_INTESTINE	12120123	12126103	12122457	12122457	Missense_Mutation	C	T	p.P810L
GP2D_LARGE_INTESTINE	12120123	12126103	12122590	12122590	Missense_Mutation	A	G	p.I854M
GP5D_LARGE_INTESTINE	12120123	12126103	12122590	12122590	Missense_Mutation	A	G	p.I854M
MEWO_SKIN	12120123	12126103	12122613	12122613	Missense_Mutation	G	A	p.R862K
FU97_STOMACH	12120123	12126103	12122648	12122648	Missense_Mutation	T	C	p.F874L
TFK1_BILIARY_TRACT	12120123	12126103	12122666	12122666	Missense_Mutation	G	T	p.V880L
PCI15A_UPPER_AERODIGESTIVE_TRACT	12120123	12126103	12122725	12122725	Missense_Mutation	A	T	p.Q899H
HCC366_LUNG	12120123	12126103	12122819	12122819	Missense_Mutation	G	A	p.E931K
OC316_OVARY	12120123	12126103	12122883	12122883	Missense_Mutation	A	G	p.H952R
OC314_OVARY	12120123	12126103	12122883	12122883	Missense_Mutation	A	G	p.H952R
NCIH513_PLEURA	12120123	12126103	12122894	12122894	Missense_Mutation	G	T	p.G956W
CAL27_UPPER_AERODIGESTIVE_TRACT	12120123	12126103	12123091	12123091	Missense_Mutation	C	G	p.I1021M
LNCAPCLONEFGC_PROSTATE	12120123	12126103	12123267	12123267	Missense_Mutation	A	G	p.D1080G
SNU1040_LARGE_INTESTINE	12120123	12126103	12123322	12123322	Missense_Mutation	G	T	p.R1098S
KS1_CENTRAL_NERVOUS_SYSTEM	12120123	12126103	12123374	12123374	Missense_Mutation	A	G	p.I1116V
MDAMB361_BREAST	12120123	12126103	12123482	12123482	Missense_Mutation	G	A	p.E1152K
DU145_PROSTATE	12120123	12126103	12123594	12123594	Missense_Mutation	A	G	p.D1189G
NCIH292_LUNG	12120123	12126103	12123597	12123597	Missense_Mutation	G	A	p.G1190E
DANG_PANCREAS	12120123	12126103	12123925	12123925	Missense_Mutation	T	A	p.D1299E
VAESBJ_SOFT_TISSUE	12120123	12126103	12123952	12123952	Missense_Mutation	G	C	p.R1308S
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12123986	12123986	Missense_Mutation	G	A	p.A1320T
NB7_AUTONOMIC_GANGLIA	12120123	12126103	12124110	12124110	Missense_Mutation	G	A	p.R1361Q
SNU520_STOMACH	12120123	12126103	12124122	12124122	Missense_Mutation	G	A	p.R1365H
MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12124149	12124149	Missense_Mutation	C	T	p.T1374M
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12124153	12124154	Missense_Mutation	AA	GG	p.T1376A
MCC13_SKIN	12120123	12126103	12124172	12124172	Missense_Mutation	G	C	p.D1382H
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12124299	12124299	Missense_Mutation	G	A	p.R1424K
CW2_LARGE_INTESTINE	12120123	12126103	12124425	12124425	Missense_Mutation	G	T	p.G1466V
NCIBL2087_MATCHED_NORMAL_TISSUE	12120123	12126103	12124446	12124446	Missense_Mutation	C	T	p.S1473F
NCIH2087_LUNG	12120123	12126103	12124446	12124446	Missense_Mutation	C	T	p.S1473F
NCIH630_LARGE_INTESTINE	12120123	12126103	12124636	12124636	Missense_Mutation	G	T	p.Q1536H
PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT	12120123	12126103	12124724	12124724	Missense_Mutation	G	A	p.V1566I
RH30_SOFT_TISSUE	12120123	12126103	12124751	12124751	Missense_Mutation	T	G	p.S1575A
SJRH30_SOFT_TISSUE	12120123	12126103	12124751	12124751	Missense_Mutation	T	G	p.S1575A
SHP77_LUNG	12120123	12126103	12124977	12124977	Missense_Mutation	C	A	p.A1650D
TGBC24TKB_BILIARY_TRACT	12120123	12126103	12124982	12124982	Missense_Mutation	C	G	p.L1652V
HEC108_ENDOMETRIUM	12120123	12126103	12125007	12125007	Missense_Mutation	T	C	p.V1660A
TK10_KIDNEY	12120123	12126103	12125075	12125075	Missense_Mutation	C	G	p.Q1683E
UMCHOR1_BONE	12120123	12126103	12125088	12125088	Missense_Mutation	C	A	p.P1687Q
CHSA0011_BONE	12120123	12126103	12125103	12125103	Missense_Mutation	G	C	p.G1692A
HMEL_BREAST	12120123	12126103	12125126	12125126	Missense_Mutation	C	T	p.P1700S
HCC1569_BREAST	12120123	12126103	12125151	12125151	Missense_Mutation	A	G	p.N1708S
A388_SKIN	12120123	12126103	12125187	12125187	Missense_Mutation	C	T	p.S1720L
HEC251_ENDOMETRIUM	12120123	12126103	12125256	12125256	Missense_Mutation	C	T	p.S1743L
NCIH630_LARGE_INTESTINE	12120123	12126103	12125318	12125318	Missense_Mutation	C	T	p.R1764W
NCIH1930_LUNG	12120123	12126103	12125378	12125378	Missense_Mutation	A	T	p.S1784C
HCC2998_LARGE_INTESTINE	12120123	12126103	12125382	12125382	Missense_Mutation	C	T	p.S1785L
MCC26_SKIN	12120123	12126103	12125456	12125456	Missense_Mutation	G	A	p.G1810S
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12125456	12125456	Missense_Mutation	G	A	p.G1810S
KMBC2_URINARY_TRACT	12120123	12126103	12125468	12125468	Missense_Mutation	G	C	p.E1814Q
NCIH23_LUNG	12120123	12126103	12125570	12125570	Missense_Mutation	G	A	p.V1848I
MDAMB330_BREAST	12120123	12126103	12125570	12125570	Missense_Mutation	G	A	p.V1848I
SNU81_LARGE_INTESTINE	12120123	12126103	12125597	12125597	Missense_Mutation	G	A	p.E1857K
TE8_OESOPHAGUS	12120123	12126103	12125631	12125631	Missense_Mutation	C	G	p.T1868S
UOK101_KIDNEY	12120123	12126103	12125694	12125694	Missense_Mutation	C	A	p.T1889K
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12125774	12125774	Missense_Mutation	C	A	p.P1916T
HCC2108_LUNG	12120123	12126103	12125777	12125777	Missense_Mutation	G	A	p.V1917I
MORCPR_LUNG	12120123	12126103	12125777	12125777	Missense_Mutation	G	A	p.V1917I
HCC2998_LARGE_INTESTINE	12120123	12126103	12125784	12125784	Missense_Mutation	C	A	p.S1919Y
GP2D_LARGE_INTESTINE	12120123	12126103	12125849	12125849	Missense_Mutation	A	G	p.N1941D
GP5D_LARGE_INTESTINE	12120123	12126103	12125849	12125849	Missense_Mutation	A	G	p.N1941D
HCC2450_LUNG	12120123	12126103	12125878	12125878	Missense_Mutation	G	C	p.Q1950H
JHUEM1_ENDOMETRIUM	12120123	12126103	12125902	12125902	Missense_Mutation	G	T	p.K1958N
SKMEL30_SKIN	12120123	12126103	12125963	12125963	Missense_Mutation	G	A	p.G1979S
SNB75_CENTRAL_NERVOUS_SYSTEM	12120123	12126103	12125963	12125963	Missense_Mutation	G	C	p.G1979R
BICR18_UPPER_AERODIGESTIVE_TRACT	12129992	12130125	12130013	12130013	Missense_Mutation	T	G	p.S2033A
BICR18_UPPER_AERODIGESTIVE_TRACT	12129992	12130125	12130044	12130044	Missense_Mutation	C	A	p.A2043D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12129992	12130125	12130044	12130044	Missense_Mutation	C	A	p.A2043D
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12129992	12130125	12130044	12130044	Missense_Mutation	C	A	p.A2043D
COLO678_LARGE_INTESTINE	12131000	12131175	12131064	12131064	Missense_Mutation	G	C	p.E2092Q
HEC108_ENDOMETRIUM	12131000	12131175	12131077	12131077	Missense_Mutation	G	A	p.R2096H
BICR56_UPPER_AERODIGESTIVE_TRACT	12131000	12131175	12131101	12131101	Missense_Mutation	A	G	p.K2104R
JHOS2_OVARY	12131000	12131175	12131140	12131140	Missense_Mutation	A	T	p.H2117L
SNGM_ENDOMETRIUM	12131000	12131175	12131143	12131143	Missense_Mutation	G	A	p.C2118Y
DIFI_LARGE_INTESTINE	12136024	12136125	12136029	12136029	Missense_Mutation	C	A	p.L2131M
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12122936	12122936	Nonsense_Mutation	A	T	p.K970*
KU1919_URINARY_TRACT	12120123	12126103	12123209	12123209	Nonsense_Mutation	C	T	p.Q1061*
M14_SKIN	12120123	12126103	12123515	12123515	Nonsense_Mutation	C	T	p.Q1163*
MDAMB435S_SKIN	12120123	12126103	12123515	12123515	Nonsense_Mutation	C	T	p.Q1163*
COLO792_SKIN	12120123	12126103	12123647	12123647	Nonsense_Mutation	C	T	p.Q1207*
NCIH524_LUNG	12120123	12126103	12124235	12124235	Nonsense_Mutation	G	T	p.E1403*
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	12120123	12126103	12125687	12125687	Nonsense_Mutation	A	T	p.K1887*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HIVEP1

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_447961	6	12089416:12089470:12120122:12126103:12129991:12130125	12120122:12126103	ENST00000379388.2	LUSC	rs2228220	chr6:12123249	C/T	3.46e-04
exon_skip_447961	6	12089416:12089470:12120122:12126103:12129991:12130125	12120122:12126103	ENST00000379388.2	UCS	rs2228213	chr6:12124855	G/A	4.16e-05
exon_skip_447961	6	12089416:12089470:12120122:12126103:12129991:12130125	12120122:12126103	ENST00000379388.2	UCS	rs2228213	chr6:12124855	G/A	4.16e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HIVEP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HIVEP1

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RelatedDrugs for HIVEP1

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 HIVEP1

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 HIVEP1

Exon skipping events across known transcript of Ensembl for HIVEP1 from UCSC genome browser

Gene isoform structures and expression levels for HIVEP1

Exon skipping events with PSIs in TCGA for HIVEP1

Exon skipping events with PSIs in GTEx for HIVEP1

Open reading frame (ORF) annotation in the exon skipping event for HIVEP1

Infer the effects of exon skipping event on protein functional features for HIVEP1

SNVs in the skipped exons for HIVEP1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HIVEP1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HIVEP1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HIVEP1

RelatedDrugs for HIVEP1

RelatedDiseases for HIVEP1