ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for HECTD1

Gene summary

Gene information	Gene symbol	HECTD1
	Gene ID	25831
	Gene name	HECT domain E3 ubiquitin protein ligase 1
	Synonyms	EULIR
	Cytomap	14q12
	Type of gene	protein-coding
	Description	E3 ubiquitin-protein ligase HECTD1E3 ligase for inhibin receptorHECT domain containing E3 ubiquitin protein ligase 1HECT domain-containing protein 1HECT-type E3 ubiquitin transferase HECTD1
	Modification date	20180523
	UniProtAcc	Q9ULT8
	Context	PubMed: HECTD1 [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 HECTD1 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 HECTD1

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 HECTD1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_112419	14	31570385:31570530:31572121:31572272:31574588:31574682	31572121:31572272	ENSG00000092148.8	ENST00000555843.1,ENST00000553700.1,ENST00000399332.1,ENST00000554882.1
exon_skip_112421	14	31582636:31582690:31583082:31583265:31583491:31583534	31583082:31583265	ENSG00000092148.8	ENST00000555843.1,ENST00000553957.1,ENST00000553700.1,ENST00000399332.1,ENST00000554882.1
exon_skip_112423	14	31583082:31583265:31583491:31583546:31585441:31585664	31583491:31583546	ENSG00000092148.8	ENST00000555843.1,ENST00000553957.1,ENST00000553700.1,ENST00000399332.1,ENST00000554882.1
exon_skip_112424	14	31583491:31583546:31585441:31585664:31588915:31589072	31585441:31585664	ENSG00000092148.8	ENST00000555843.1,ENST00000553957.1,ENST00000553700.1,ENST00000399332.1,ENST00000554882.1
exon_skip_112425	14	31588975:31589072:31590588:31590711:31592119:31592253	31590588:31590711	ENSG00000092148.8	ENST00000555915.1,ENST00000553957.1,ENST00000553700.1,ENST00000399332.1
exon_skip_112426	14	31588975:31589072:31590588:31590711:31592125:31592253	31590588:31590711	ENSG00000092148.8	ENST00000555843.1,ENST00000554882.1
exon_skip_112427	14	31592125:31592253:31592721:31592830:31596990:31597074	31592721:31592830	ENSG00000092148.8	ENST00000555915.1
exon_skip_112431	14	31597071:31597212:31597817:31598513:31602443:31602620	31597817:31598513	ENSG00000092148.8	ENST00000553957.1
exon_skip_112432	14	31597071:31597212:31597817:31598654:31602443:31602620	31597817:31598654	ENSG00000092148.8	ENST00000553700.1,ENST00000399332.1
exon_skip_112433	14	31602714:31602881:31604077:31604401:31604681:31604821	31604077:31604401	ENSG00000092148.8	ENST00000553957.1,ENST00000553700.1,ENST00000399332.1
exon_skip_112439	14	31638559:31638674:31641066:31641165:31641251:31641328	31641066:31641165	ENSG00000092148.8	ENST00000553700.1,ENST00000399332.1,ENST00000556224.1
exon_skip_112440	14	31642583:31642632:31642730:31643012:31644116:31644180	31642730:31643012	ENSG00000092148.8	ENST00000553700.1,ENST00000399332.1,ENST00000554471.1,ENST00000556224.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for HECTD1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_112419	14	31570385:31570530:31572121:31572272:31574588:31574682	31572121:31572272	ENSG00000092148.8	ENST00000554882.1,ENST00000555843.1,ENST00000553700.1,ENST00000399332.1
exon_skip_112421	14	31582636:31582690:31583082:31583265:31583491:31583534	31583082:31583265	ENSG00000092148.8	ENST00000554882.1,ENST00000555843.1,ENST00000553700.1,ENST00000399332.1,ENST00000553957.1
exon_skip_112423	14	31583082:31583265:31583491:31583546:31585441:31585664	31583491:31583546	ENSG00000092148.8	ENST00000554882.1,ENST00000555843.1,ENST00000553700.1,ENST00000399332.1,ENST00000553957.1
exon_skip_112424	14	31583491:31583546:31585441:31585664:31588915:31589072	31585441:31585664	ENSG00000092148.8	ENST00000554882.1,ENST00000555843.1,ENST00000553700.1,ENST00000399332.1,ENST00000553957.1
exon_skip_112425	14	31588975:31589072:31590588:31590711:31592119:31592253	31590588:31590711	ENSG00000092148.8	ENST00000553700.1,ENST00000399332.1,ENST00000553957.1,ENST00000555915.1
exon_skip_112426	14	31588975:31589072:31590588:31590711:31592125:31592253	31590588:31590711	ENSG00000092148.8	ENST00000554882.1,ENST00000555843.1
exon_skip_112427	14	31592125:31592253:31592721:31592830:31596990:31597074	31592721:31592830	ENSG00000092148.8	ENST00000555915.1
exon_skip_112431	14	31597071:31597212:31597817:31598513:31602443:31602620	31597817:31598513	ENSG00000092148.8	ENST00000553957.1
exon_skip_112432	14	31597071:31597212:31597817:31598654:31602443:31602620	31597817:31598654	ENSG00000092148.8	ENST00000553700.1,ENST00000399332.1
exon_skip_112433	14	31602714:31602881:31604077:31604401:31604681:31604821	31604077:31604401	ENSG00000092148.8	ENST00000553700.1,ENST00000399332.1,ENST00000553957.1
exon_skip_112439	14	31638559:31638674:31641066:31641165:31641251:31641328	31641066:31641165	ENSG00000092148.8	ENST00000553700.1,ENST00000399332.1,ENST00000556224.1
exon_skip_112440	14	31642583:31642632:31642730:31643012:31644116:31644180	31642730:31643012	ENSG00000092148.8	ENST00000553700.1,ENST00000399332.1,ENST00000556224.1,ENST00000554471.1

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 HECTD1

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
ENST00000399332	31572121	31572272	Frame-shift
ENST00000553700	31572121	31572272	Frame-shift
ENST00000399332	31583491	31583546	Frame-shift
ENST00000553700	31583491	31583546	Frame-shift
ENST00000399332	31585441	31585664	Frame-shift
ENST00000553700	31585441	31585664	Frame-shift
ENST00000399332	31583082	31583265	In-frame
ENST00000553700	31583082	31583265	In-frame
ENST00000399332	31590588	31590711	In-frame
ENST00000553700	31590588	31590711	In-frame
ENST00000399332	31597817	31598654	In-frame
ENST00000553700	31597817	31598654	In-frame
ENST00000399332	31604077	31604401	In-frame
ENST00000553700	31604077	31604401	In-frame
ENST00000399332	31641066	31641165	In-frame
ENST00000553700	31641066	31641165	In-frame
ENST00000399332	31642730	31643012	In-frame
ENST00000553700	31642730	31643012	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
ENST00000399332	31572121	31572272	Frame-shift
ENST00000553700	31572121	31572272	Frame-shift
ENST00000399332	31583491	31583546	Frame-shift
ENST00000553700	31583491	31583546	Frame-shift
ENST00000399332	31585441	31585664	Frame-shift
ENST00000553700	31585441	31585664	Frame-shift
ENST00000399332	31583082	31583265	In-frame
ENST00000553700	31583082	31583265	In-frame
ENST00000399332	31590588	31590711	In-frame
ENST00000553700	31590588	31590711	In-frame
ENST00000399332	31597817	31598654	In-frame
ENST00000553700	31597817	31598654	In-frame
ENST00000399332	31604077	31604401	In-frame
ENST00000553700	31604077	31604401	In-frame
ENST00000399332	31641066	31641165	In-frame
ENST00000553700	31641066	31641165	In-frame
ENST00000399332	31642730	31643012	In-frame
ENST00000553700	31642730	31643012	In-frame

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Infer the effects of exon skipping event on protein functional features for HECTD1

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
ENST00000399332	9151	2610	31642730	31643012	1093	1374	201	295
ENST00000553700	9097	2610	31642730	31643012	1039	1320	201	295
ENST00000399332	9151	2610	31641066	31641165	1723	1821	411	444
ENST00000553700	9097	2610	31641066	31641165	1669	1767	411	444
ENST00000399332	9151	2610	31604077	31604401	3744	4067	1085	1192
ENST00000553700	9097	2610	31604077	31604401	3690	4013	1085	1192
ENST00000399332	9151	2610	31597817	31598654	4412	5248	1307	1586
ENST00000553700	9097	2610	31597817	31598654	4358	5194	1307	1586
ENST00000399332	9151	2610	31590588	31590711	5605	5727	1705	1746
ENST00000553700	9097	2610	31590588	31590711	5551	5673	1705	1746
ENST00000399332	9151	2610	31583082	31583265	6163	6345	1891	1952
ENST00000553700	9097	2610	31583082	31583265	6109	6291	1891	1952

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
ENST00000399332	9151	2610	31642730	31643012	1093	1374	201	295
ENST00000553700	9097	2610	31642730	31643012	1039	1320	201	295
ENST00000399332	9151	2610	31641066	31641165	1723	1821	411	444
ENST00000553700	9097	2610	31641066	31641165	1669	1767	411	444
ENST00000399332	9151	2610	31604077	31604401	3744	4067	1085	1192
ENST00000553700	9097	2610	31604077	31604401	3690	4013	1085	1192
ENST00000399332	9151	2610	31597817	31598654	4412	5248	1307	1586
ENST00000553700	9097	2610	31597817	31598654	4358	5194	1307	1586
ENST00000399332	9151	2610	31590588	31590711	5605	5727	1705	1746
ENST00000553700	9097	2610	31590588	31590711	5551	5673	1705	1746
ENST00000399332	9151	2610	31583082	31583265	6163	6345	1891	1952
ENST00000553700	9097	2610	31583082	31583265	6109	6291	1891	1952

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
Q9ULT8	201	295	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	201	295	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	411	444	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	411	444	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	411	444	395	424	Repeat	Note=ANK 1
Q9ULT8	411	444	395	424	Repeat	Note=ANK 1
Q9ULT8	411	444	426	455	Repeat	Note=ANK 2
Q9ULT8	411	444	426	455	Repeat	Note=ANK 2
Q9ULT8	1085	1192	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1085	1192	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1307	1586	1309	1314	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1309	1314	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1319	1325	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1319	1325	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1332	1334	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1332	1334	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1307	1586	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1307	1586	1350	1649	Compositional bias	Note=Ser-rich
Q9ULT8	1307	1586	1350	1649	Compositional bias	Note=Ser-rich
Q9ULT8	1307	1586	1266	1338	Domain	Note=MIB/HERC2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00749
Q9ULT8	1307	1586	1266	1338	Domain	Note=MIB/HERC2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00749
Q9ULT8	1307	1586	1326	1328	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1326	1328	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1384	1384	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q69ZR2
Q9ULT8	1307	1586	1384	1384	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q69ZR2
Q9ULT8	1307	1586	1488	1488	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q9ULT8	1307	1586	1488	1488	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q9ULT8	1307	1586	1567	1567	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q69ZR2
Q9ULT8	1307	1586	1567	1567	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q69ZR2
Q9ULT8	1307	1586	1315	1317	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DK3
Q9ULT8	1307	1586	1315	1317	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DK3
Q9ULT8	1705	1746	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1705	1746	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1891	1952	1905	1908	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1905	1908	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1891	1952	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1891	1952	1896	1902	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1896	1902	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1910	1920	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1910	1920	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1923	1928	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1923	1928	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1935	1941	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1935	1941	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1944	1957	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1944	1957	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3

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
Q9ULT8	201	295	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	201	295	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	411	444	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	411	444	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	411	444	395	424	Repeat	Note=ANK 1
Q9ULT8	411	444	395	424	Repeat	Note=ANK 1
Q9ULT8	411	444	426	455	Repeat	Note=ANK 2
Q9ULT8	411	444	426	455	Repeat	Note=ANK 2
Q9ULT8	1085	1192	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1085	1192	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1307	1586	1309	1314	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1309	1314	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1319	1325	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1319	1325	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1332	1334	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1332	1334	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1307	1586	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1307	1586	1350	1649	Compositional bias	Note=Ser-rich
Q9ULT8	1307	1586	1350	1649	Compositional bias	Note=Ser-rich
Q9ULT8	1307	1586	1266	1338	Domain	Note=MIB/HERC2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00749
Q9ULT8	1307	1586	1266	1338	Domain	Note=MIB/HERC2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00749
Q9ULT8	1307	1586	1326	1328	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1326	1328	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DKM
Q9ULT8	1307	1586	1384	1384	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q69ZR2
Q9ULT8	1307	1586	1384	1384	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q69ZR2
Q9ULT8	1307	1586	1488	1488	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q9ULT8	1307	1586	1488	1488	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q9ULT8	1307	1586	1567	1567	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q69ZR2
Q9ULT8	1307	1586	1567	1567	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q69ZR2
Q9ULT8	1307	1586	1315	1317	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DK3
Q9ULT8	1307	1586	1315	1317	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DK3
Q9ULT8	1705	1746	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1705	1746	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1891	1952	1905	1908	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1905	1908	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1891	1952	1	2610	Chain	ID=PRO_0000083945;Note=E3 ubiquitin-protein ligase HECTD1
Q9ULT8	1891	1952	1896	1902	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1896	1902	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1910	1920	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1910	1920	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1923	1928	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1923	1928	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1935	1941	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1935	1941	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1944	1957	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3
Q9ULT8	1891	1952	1944	1957	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2LC3

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SNVs in the skipped exons for HECTD1

- 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.

HECTD1_DLBC_exon_skip_112432_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_112421	31583083	31583265	31583117	31583117	Frame_Shift_Del	T	-	p.N1941fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_112421	31583083	31583265	31583117	31583117	Frame_Shift_Del	T	-	p.N1941fs
LIHC	TCGA-DD-A1EG-01	exon_skip_112421	31583083	31583265	31583130	31583130	Frame_Shift_Del	T	-	p.S1937fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_112423	31583492	31583546	31583494	31583494	Frame_Shift_Del	T	-	p.M1891fs
LIHC	TCGA-DD-A39Y-01	exon_skip_112423	31583492	31583546	31583502	31583502	Frame_Shift_Del	T	-	p.N1888fs
LIHC	TCGA-DD-A39Y-01	exon_skip_112424	31585442	31585664	31585513	31585513	Frame_Shift_Del	T	-	p.K1849fs
KIRC	TCGA-A3-3374-01	exon_skip_112426 exon_skip_112425	31590589	31590711	31590706	31590706	Frame_Shift_Del	C	-	p.L1707fs
LIHC	TCGA-DD-A1EG-01	exon_skip_112431	31597818	31598513	31597840	31597840	Frame_Shift_Del	C	-	p.G1579fs
LIHC	TCGA-DD-A1EG-01	exon_skip_112432	31597818	31598654	31597840	31597840	Frame_Shift_Del	C	-	p.G1579fs
LIHC	TCGA-DD-A39Y-01	exon_skip_112431	31597818	31598513	31598119	31598119	Frame_Shift_Del	A	-	p.V1486fs
LIHC	TCGA-DD-A39Y-01	exon_skip_112432	31597818	31598654	31598119	31598119	Frame_Shift_Del	A	-	p.V1486fs
LIHC	TCGA-DD-A3A0-01	exon_skip_112433	31604078	31604401	31604153	31604153	Frame_Shift_Del	A	-	p.F1168fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_112433	31604078	31604401	31604153	31604153	Frame_Shift_Del	A	-	p.F1168fs
DLBC	TCGA-GS-A9TW-01	exon_skip_112431	31597818	31598513	31598249	31598250	Frame_Shift_Ins	-	C	p.S1443fs
DLBC	TCGA-GS-A9TW-01	exon_skip_112432	31597818	31598654	31598249	31598250	Frame_Shift_Ins	-	C	p.S1443fs
THYM	TCGA-4V-A9QQ-01	exon_skip_112423	31583492	31583546	31583537	31583537	Nonsense_Mutation	G	T	p.Y1876X
LIHC	TCGA-CC-A7IH-01	exon_skip_112439	31641067	31641165	31641123	31641123	Nonsense_Mutation	G	A	p.Q426*
LIHC	TCGA-CC-A7IH-01	exon_skip_112439	31641067	31641165	31641123	31641123	Nonsense_Mutation	G	A	p.Q426X

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-GS-A9TW-01
	Cancer type: DLBC
	ESID: exon_skip_112432
	Skipped exon start: 31597818
	Skipped exon end: 31598654
	Mutation start: 31598249
	Mutation end: 31598250
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.S1443fs
	Sample: TCGA-GS-A9TW-01
	Cancer type: DLBC
	ESID: exon_skip_112431
	Skipped exon start: 31597818
	Skipped exon end: 31598513
	Mutation start: 31598249
	Mutation end: 31598250
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.S1443fs
exon_skip_112432_DLBC_TCGA-GS-A9TW-01.png
exon_skip_2248_DLBC_TCGA-GS-A9TW-01.png
exon_skip_439861_DLBC_TCGA-GS-A9TW-01.png
exon_skip_90007_DLBC_TCGA-GS-A9TW-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
MDAMB330_BREAST	31583083	31583265	31583159	31583159	Missense_Mutation	C	T	p.R1927H
GP2D_LARGE_INTESTINE	31583083	31583265	31583160	31583160	Missense_Mutation	G	A	p.R1927C
GP5D_LARGE_INTESTINE	31583083	31583265	31583160	31583160	Missense_Mutation	G	A	p.R1927C
CCK81_LARGE_INTESTINE	31583083	31583265	31583201	31583201	Missense_Mutation	A	G	p.L1913S
TE8_OESOPHAGUS	31585442	31585664	31585556	31585556	Missense_Mutation	G	T	p.P1835Q
CJM_SKIN	31585442	31585664	31585647	31585647	Missense_Mutation	G	T	p.L1805I
SNU886_LIVER	31585442	31585664	31585659	31585659	Missense_Mutation	G	A	p.P1801S
EN_ENDOMETRIUM	31585442	31585664	31585662	31585662	Missense_Mutation	T	A	p.T1800S
NCIH2342_LUNG	31590589	31590711	31590605	31590605	Missense_Mutation	C	T	p.R1741Q
LB373MELD_SKIN	31590589	31590711	31590633	31590633	Missense_Mutation	G	C	p.P1732A
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31590589	31590711	31590671	31590671	Missense_Mutation	C	T	p.R1719H
PLCPRF5_LIVER	31597818	31598654	31598007	31598007	Missense_Mutation	C	A	p.A1524S
PLCPRF5_LIVER	31597818	31598513	31598007	31598007	Missense_Mutation	C	A	p.A1524S
KYSE510_OESOPHAGUS	31597818	31598654	31598045	31598045	Missense_Mutation	G	A	p.S1511L
KYSE510_OESOPHAGUS	31597818	31598513	31598045	31598045	Missense_Mutation	G	A	p.S1511L
RL952_ENDOMETRIUM	31597818	31598654	31598118	31598118	Missense_Mutation	T	C	p.S1487G
RL952_ENDOMETRIUM	31597818	31598513	31598118	31598118	Missense_Mutation	T	C	p.S1487G
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31597818	31598654	31598136	31598136	Missense_Mutation	T	C	p.M1481V
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31597818	31598513	31598136	31598136	Missense_Mutation	T	C	p.M1481V
SNU1041_UPPER_AERODIGESTIVE_TRACT	31597818	31598654	31598145	31598145	Missense_Mutation	C	T	p.A1478T
SNU1041_UPPER_AERODIGESTIVE_TRACT	31597818	31598513	31598145	31598145	Missense_Mutation	C	T	p.A1478T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31597818	31598654	31598163	31598164	Missense_Mutation	TA	CT	p.T1472A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31597818	31598513	31598163	31598164	Missense_Mutation	TA	CT	p.T1472A
BICR18_UPPER_AERODIGESTIVE_TRACT	31597818	31598654	31598378	31598378	Missense_Mutation	C	G	p.G1400A
BICR18_UPPER_AERODIGESTIVE_TRACT	31597818	31598513	31598378	31598378	Missense_Mutation	C	G	p.G1400A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31597818	31598654	31598378	31598378	Missense_Mutation	C	G	p.G1400A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31597818	31598513	31598378	31598378	Missense_Mutation	C	G	p.G1400A
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31597818	31598654	31598378	31598378	Missense_Mutation	C	G	p.G1400A
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31597818	31598513	31598378	31598378	Missense_Mutation	C	G	p.G1400A
OC316_OVARY	31597818	31598654	31598415	31598415	Missense_Mutation	C	G	p.V1388L
OC316_OVARY	31597818	31598513	31598415	31598415	Missense_Mutation	C	G	p.V1388L
OC314_OVARY	31597818	31598654	31598415	31598415	Missense_Mutation	C	G	p.V1388L
OC314_OVARY	31597818	31598513	31598415	31598415	Missense_Mutation	C	G	p.V1388L
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31597818	31598654	31598586	31598586	Missense_Mutation	C	T	p.D1331N
SW1573_LUNG	31604078	31604401	31604111	31604111	Missense_Mutation	G	A	p.T1182I
HCC2814_LUNG	31604078	31604401	31604148	31604148	Missense_Mutation	C	T	p.V1170I
C32_SKIN	31604078	31604401	31604297	31604297	Missense_Mutation	C	T	p.R1120H
639V_URINARY_TRACT	31604078	31604401	31604318	31604318	Missense_Mutation	C	T	p.R1113H
COLO201_LARGE_INTESTINE	31642731	31643012	31642742	31642742	Missense_Mutation	C	T	p.V292I
NCIH2342_LUNG	31642731	31643012	31642791	31642791	Missense_Mutation	C	A	p.Q275H
HEC108_ENDOMETRIUM	31642731	31643012	31642847	31642847	Missense_Mutation	C	T	p.G257S
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31642731	31643012	31642960	31642960	Missense_Mutation	C	T	p.R219H
HT1376_URINARY_TRACT	31583083	31583265	31583103	31583103	Nonsense_Mutation	G	A	p.Q1946*
HSC3_UPPER_AERODIGESTIVE_TRACT	31597818	31598654	31598288	31598288	Nonsense_Mutation	G	T	p.S1430*
HSC3_UPPER_AERODIGESTIVE_TRACT	31597818	31598513	31598288	31598288	Nonsense_Mutation	G	T	p.S1430*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HECTD1

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 HECTD1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HECTD1

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RelatedDrugs for HECTD1

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 HECTD1

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 HECTD1

Exon skipping events across known transcript of Ensembl for HECTD1 from UCSC genome browser

Gene isoform structures and expression levels for HECTD1

Exon skipping events with PSIs in TCGA for HECTD1

Exon skipping events with PSIs in GTEx for HECTD1

Open reading frame (ORF) annotation in the exon skipping event for HECTD1

Infer the effects of exon skipping event on protein functional features for HECTD1

SNVs in the skipped exons for HECTD1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HECTD1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HECTD1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HECTD1

RelatedDrugs for HECTD1

RelatedDiseases for HECTD1