Gene: POLD1 ENSG00000062822

Description

DNA polymerase delta 1, catalytic subunit [Source:HGNC Symbol;Acc:HGNC:9175]

Gene Synonyms

CDC2, POLD

Location

Chromosome 19: 50,384,204-50,418,018 forward strand.

GRCh38:CM000681.2

About this gene

This gene has 57 transcripts (splice variants), 180 orthologues, 3 paralogues and is associated with 98 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000440232.7	POLD1-201	3436	1107aa	ENSP00000406046.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	P28340	NM_002691.4	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, 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,
ENST00001141211.1	POLD1-257	3508	1107aa	ENSP00000812986.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000935843.2	POLD1-225	4431	1107aa	ENSP00000605902.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000935858.2	POLD1-240	3831	1107aa	ENSP00000605917.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000969650.2	POLD1-244	3801	1133aa	ENSP00000639709.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS82381	-	-	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,
ENST00000935849.2	POLD1-231	3779	1107aa	ENSP00000605908.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000935859.2	POLD1-241	3759	1107aa	ENSP00000605918.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000935856.2	POLD1-238	3726	1107aa	ENSP00000605915.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000869783.2	POLD1-224	3723	1107aa	ENSP00000539842.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000593887.2	POLD1-203	3703	1107aa	ENSP00000472607.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	M0R2J2 P28340	-	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,
ENST00000935844.2	POLD1-226	3656	1107aa	ENSP00000605903.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000935848.2	POLD1-230	3637	1107aa	ENSP00000605907.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000601098.7	POLD1-212	3634	1107aa	ENSP00000472600.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	P28340	-	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 3: A transcript where the only support is from a single EST 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:3,
ENST00000935847.2	POLD1-229	3631	1107aa	ENSP00000605906.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000869780.2	POLD1-221	3625	1107aa	ENSP00000539839.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000935854.2	POLD1-236	3624	1107aa	ENSP00000605913.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000935846.2	POLD1-228	3616	1143aa	ENSP00000605905.1	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,
ENST00000935850.2	POLD1-232	3610	1099aa	ENSP00000605909.1	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,
ENST00000969649.2	POLD1-243	3604	1107aa	ENSP00000639708.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	-	-	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,
ENST00000869782.2	POLD1-223	3589	1133aa	ENSP00000539841.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS82381	-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000935855.2	POLD1-237	3581	1083aa	ENSP00000605914.1	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,
ENST00000969648.2	POLD1-242	3562	1083aa	ENSP00000639707.1	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,
ENST00000687454.2	POLD1-216	3541	1107aa	ENSP00000510052.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	P28340	-	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,
ENST00000595904.7	POLD1-205	3518	1133aa	ENSP00000472445.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS82381	M0R2B7	-	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,
ENST00000599857.8	POLD1-209	3511	1107aa	ENSP00000473052.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12795	P28340	-	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,
ENST00000935857.2	POLD1-239	3490	1101aa	ENSP00000605916.1	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,
ENST00000869779.2	POLD1-220	3487	1099aa	ENSP00000539838.1	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,
ENST00000869777.2	POLD1-218	3484	1099aa	ENSP00000539836.1	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,
ENST00000613923.7	POLD1-213	3439	1083aa	ENSP00000481858.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A087WYJ2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, 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,
ENST00000869778.2	POLD1-219	3439	1084aa	ENSP00000539837.1	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,
ENST00000869776.2	POLD1-217	3436	1083aa	ENSP00000539835.1	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,
ENST00000935845.2	POLD1-227	3412	1075aa	ENSP00000605904.1	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,
ENST00000935852.2	POLD1-234	3391	1068aa	ENSP00000605911.1	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,
ENST00000935851.2	POLD1-233	3382	1065aa	ENSP00000605910.1	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,
ENST00000644560.2	POLD1-215	3370	1109aa	ENSP00000495618.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A2R8Y705	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000935853.2	POLD1-235	3262	1025aa	ENSP00000605912.1	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,
ENST00000869781.2	POLD1-222	3235	1016aa	ENSP00000539840.1	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,
ENST00000593981.1	POLD1-204	873	291aa	ENSP00000469308.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		M0QXQ2	-	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, 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000593407.5	POLD1-202	867	289aa	ENSP00000469115.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		M0QXE6	-	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, 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00001089088.1	POLD1-256	4095	620aa	ENSP00000758894.1	Nonsense mediated decay		-	-	-
ENST00001089082.1	POLD1-251	3847	604aa	ENSP00000758888.1	Nonsense mediated decay		-	-	-
ENST00001009937.1	POLD1-249	3771	599aa	ENSP00000679754.1	Nonsense mediated decay		-	-	-
ENST00001089084.1	POLD1-253	3607	124aa	ENSP00000758890.1	Nonsense mediated decay		-	-	-
ENST00001009934.1	POLD1-247	3523	762aa	ENSP00000679751.1	Nonsense mediated decay		-	-	-
ENST00000600859.5	POLD1-211	3474	1009aa	ENSP00000470726.1	Nonsense mediated decay		M0QZR8	-	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,
ENST00001089081.1	POLD1-250	3472	99aa	ENSP00000758887.1	Nonsense mediated decay		-	-	-
ENST00001009935.1	POLD1-248	3469	1009aa	ENSP00000679752.1	Nonsense mediated decay		-	-	-
ENST00001089087.1	POLD1-255	3455	255aa	ENSP00000758893.1	Nonsense mediated decay		-	-	-
ENST00000989623.1	POLD1-245	3423	620aa	ENSP00000659440.1	Nonsense mediated decay		-	-	-
ENST00000989624.1	POLD1-246	3395	99aa	ENSP00000659441.1	Nonsense mediated decay		-	-	-
ENST00001089083.1	POLD1-252	3320	620aa	ENSP00000758889.1	Nonsense mediated decay		-	-	-
ENST00001089086.1	POLD1-254	3279	620aa	ENSP00000758892.1	Nonsense mediated decay		-	-	-
ENST00000643407.1	POLD1-214	3233	762aa	ENSP00000496078.1	Nonsense mediated decay		A0A2R8Y7K6	-	-
ENST00000600746.2	POLD1-210	3565	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	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,
ENST00000596648.1	POLD1-207	1048	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	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,
ENST00000597963.5	POLD1-208	737	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,
ENST00000596221.1	POLD1-206	412	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: POLD1 ENSG00000062822

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Gene: POLD1 ENSG00000062822

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