Gene: DSE ENSG00000111817

Description

dermatan sulfate epimerase [Source:HGNC Symbol;Acc:HGNC:21144]

Gene Synonyms

DS-EPI1, DSEPI, SART2

Location

Chromosome 6: 116,253,604-116,444,861 forward strand.

GRCh38:CM000668.2

About this gene

This gene has 44 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000644252.3	DSE-213	10621	958aa	ENSP00000494147.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	Q9UL01	NM_013352.4	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00001141791.1	DSE-244	11032	958aa	ENSP00000815023.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	-	-	Not part of the MANE transcript set but a version of a MANE Select or MANE Plus Clinical transcripts with maximal 3’ and/or 5’ UTR extension.Ensembl Canonical Extended, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000950996.2	DSE-223	12158	958aa	ENSP00000621055.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000891543.2	DSE-220	11957	958aa	ENSP00000561602.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000891542.2	DSE-219	11748	958aa	ENSP00000561601.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000647244.2	DSE-218	11300	228aa	ENSP00000495184.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS87433	A0A2R8YE23	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000950999.2	DSE-226	11166	958aa	ENSP00000621058.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000951000.2	DSE-227	11161	958aa	ENSP00000621059.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000891544.2	DSE-221	11084	958aa	ENSP00000561603.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000931461.2	DSE-222	11053	965aa	ENSP00000601520.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000331677.8	DSE-201	10837	958aa	ENSP00000332151.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	Q9UL01	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5,
ENST00000950998.2	DSE-225	10830	958aa	ENSP00000621057.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000359564.4	DSE-202	10824	308aa	ENSP00000352567.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS87432	A0A2U3TZJ0	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000950997.2	DSE-224	10784	958aa	ENSP00000621056.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000452085.8	DSE-206	10621	958aa	ENSP00000404049.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5107	Q9UL01	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000646710.2	DSE-216	10584	228aa	ENSP00000495970.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS87433	A0A2R8YE23	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00001108558.1	DSE-237	4546	139aa	ENSP00000778363.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00001108556.1	DSE-235	4041	139aa	ENSP00000778361.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00001123557.1	DSE-239	4001	377aa	ENSP00000793362.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00001108557.1	DSE-236	3338	139aa	ENSP00000778362.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00001108559.1	DSE-238	3266	139aa	ENSP00000778364.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00001129806.1	DSE-240	3214	317aa	ENSP00000799611.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00001026557.1	DSE-231	1974	139aa	ENSP00000696374.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00001129808.1	DSE-242	1850	139aa	ENSP00000799613.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00001090942.1	DSE-234	1407	139aa	ENSP00000760748.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000643175.2	DSE-212	1227	139aa	ENSP00000495885.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A2R8Y6Y4	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00001129809.1	DSE-243	1206	163aa	ENSP00000799614.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000430252.6	DSE-203	1130	144aa	ENSP00000397597.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		X6REM1	-	TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:2, 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000645988.1	DSE-215	543	136aa	ENSP00000494202.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A2R8Y4N7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00001005902.1	DSE-228	4990	139aa	ENSP00000675719.1	Nonsense mediated decay		-	-	-
ENST00001026555.1	DSE-229	4618	139aa	ENSP00000696372.1	Nonsense mediated decay		-	-	-
ENST00001026556.1	DSE-230	4587	139aa	ENSP00000696373.1	Nonsense mediated decay		-	-	-
ENST00001026558.1	DSE-232	4179	139aa	ENSP00000696375.1	Nonsense mediated decay		-	-	-
ENST00001026559.1	DSE-233	3827	139aa	ENSP00000696376.1	Nonsense mediated decay		-	-	-
ENST00001129807.1	DSE-241	1479	139aa	ENSP00000799612.1	Nonsense mediated decay		-	-	-
ENST00000449314.5	DSE-205	1596	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000647046.1	DSE-217	1257	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	-
ENST00000642434.1	DSE-211	865	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	-
ENST00000606265.1	DSE-208	538	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5,
ENST00000453463.1	DSE-207	514	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:2,
ENST00000645959.1	DSE-214	395	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	-
ENST00000606712.1	DSE-209	3713	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:2,
ENST00000607094.1	DSE-210	2664	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:2,
ENST00000448740.2	DSE-204	2081	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:2,

Gene: DSE ENSG00000111817

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Gene: DSE ENSG00000111817

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