POLE (DNA polymerase epsilon, catalytic subunit)

Gene

• Entrez ID: 5426
• Gene name: DNA polymerase epsilon, catalytic subunit
• Gene symbol: POLE
• Synonyms (NCBI Gene): CRCS12, FILS, IMAGEI, POLE1
• Chromosome: 12
• Chromosome location: 12q24.33
• Summary: This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5744739	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs5744933	T>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, non coding transcript variant
rs5744948	T>G	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs36120395	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs61732929	C>A,T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs113307290	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs113594027	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs113998091	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs114119067	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs115193764	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs115455318	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs115558715	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs116076060	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs116742454	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs137860861	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs138207610	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs139075637	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs139182500	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs139603739	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs140566004	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs141619382	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs142373951	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs142508245	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143626223	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs146639652	G>A,C	Likely-benign, likely-pathogenic	Missense variant, genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs146711942	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs147354120	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs147692158	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs147806951	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs148382941	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs149462407	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs151273553	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs200080353	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs200398117	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs201115064	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs201273415	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs367970442	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs368662693	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs371717068	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs372169366	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Intron variant, genic downstream transcript variant
rs372459649	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs372901803	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs373272795	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs373443211	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs375198950	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs375209004	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs376546593	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs398122515	T>C	Likely-pathogenic, uncertain-significance, pathogenic	Intron variant
rs483352909	G>A,C	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs531482240	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Downstream transcript variant, intron variant, genic downstream transcript variant
rs536917758	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs540203276	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, synonymous variant
rs563990655	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs745601745	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs745838504	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs747692201	C>G	Uncertain-significance, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant
rs750255126	G>A	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, intron variant, genic downstream transcript variant
rs752682384	CA>-	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs758112633	A>-	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs761329565	C>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs761910924	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs762985435	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant
rs763078534	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs767503360	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs769834031	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs770403791	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs770466844	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs772127913	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs772361606	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs774425403	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs774747998	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant, non coding transcript variant
rs775213170	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs780843358	T>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs869312803	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs991583405	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs1057519943	G>C,T	Uncertain-significance, drug-response, likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, missense variant
rs1057519944	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, missense variant
rs1057519945	C>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs1057521516	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, upstream transcript variant, genic upstream transcript variant
rs1060500826	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs1064794932	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, synonymous variant
rs1174721130	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs1196356920	G>C	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1203095918	G>A	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1260912213	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs1555221512	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs1555222342	C>-	Pathogenic, uncertain-significance	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555223949	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs1555225958	C>A	Pathogenic, likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant
rs1555229108	A>C	Drug-response	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1555301070	T>-	Likely-pathogenic, uncertain-significance	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1593722216	GATCCTGAAAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, splice acceptor variant
rs1593733806	TG>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016490	hsa-miR-193b-3p	Microarray	20304954
MIRT048946	hsa-miR-92a-3p	CLASH	23622248
MIRT048946	hsa-miR-92a-3p	CLASH	23622248
MIRT048792	hsa-miR-93-5p	CLASH	23622248
MIRT046796	hsa-miR-222-3p	CLASH	23622248
MIRT043193	hsa-miR-324-5p	CLASH	23622248
MIRT1247438	hsa-miR-1200	CLIP-seq
MIRT1247439	hsa-miR-1207-5p	CLIP-seq
MIRT1247440	hsa-miR-1224-3p	CLIP-seq
MIRT1247441	hsa-miR-1252	CLIP-seq
MIRT1247442	hsa-miR-1260	CLIP-seq
MIRT1247443	hsa-miR-1260b	CLIP-seq
MIRT1247444	hsa-miR-1280	CLIP-seq
MIRT1247445	hsa-miR-1324	CLIP-seq
MIRT1247446	hsa-miR-147	CLIP-seq
MIRT1247447	hsa-miR-15a	CLIP-seq
MIRT1247448	hsa-miR-15b	CLIP-seq
MIRT1247449	hsa-miR-16	CLIP-seq
MIRT1247450	hsa-miR-195	CLIP-seq
MIRT1247451	hsa-miR-2467-5p	CLIP-seq
MIRT1247452	hsa-miR-3074-5p	CLIP-seq
MIRT1247453	hsa-miR-3125	CLIP-seq
MIRT1247454	hsa-miR-3188	CLIP-seq
MIRT1247455	hsa-miR-3545-5p	CLIP-seq
MIRT1247456	hsa-miR-3663-5p	CLIP-seq
MIRT1247457	hsa-miR-3689d	CLIP-seq
MIRT1247458	hsa-miR-3911	CLIP-seq
MIRT1247459	hsa-miR-3916	CLIP-seq
MIRT1247460	hsa-miR-3929	CLIP-seq
MIRT1247461	hsa-miR-3975	CLIP-seq
MIRT1247462	hsa-miR-424	CLIP-seq
MIRT1247463	hsa-miR-4280	CLIP-seq
MIRT1247464	hsa-miR-4305	CLIP-seq
MIRT1247465	hsa-miR-4324	CLIP-seq
MIRT1247466	hsa-miR-4419b	CLIP-seq
MIRT1247467	hsa-miR-4433	CLIP-seq
MIRT1247468	hsa-miR-4446-3p	CLIP-seq
MIRT1247469	hsa-miR-4459	CLIP-seq
MIRT1247470	hsa-miR-4478	CLIP-seq
MIRT1247471	hsa-miR-4524	CLIP-seq
MIRT1247472	hsa-miR-4527	CLIP-seq
MIRT1247473	hsa-miR-4642	CLIP-seq
MIRT1247474	hsa-miR-4645-3p	CLIP-seq
MIRT1247475	hsa-miR-4649-3p	CLIP-seq
MIRT1247476	hsa-miR-4695-5p	CLIP-seq
MIRT1247477	hsa-miR-4697-3p	CLIP-seq
MIRT1247478	hsa-miR-4711-5p	CLIP-seq
MIRT1247479	hsa-miR-4733-3p	CLIP-seq
MIRT1247480	hsa-miR-4736	CLIP-seq
MIRT1247481	hsa-miR-4757-5p	CLIP-seq
MIRT1247482	hsa-miR-4763-3p	CLIP-seq
MIRT1247483	hsa-miR-4764-5p	CLIP-seq
MIRT1247484	hsa-miR-4768-3p	CLIP-seq
MIRT1247485	hsa-miR-485-5p	CLIP-seq
MIRT1247486	hsa-miR-497	CLIP-seq
MIRT1247487	hsa-miR-503	CLIP-seq
MIRT1247488	hsa-miR-520g	CLIP-seq
MIRT1247489	hsa-miR-520h	CLIP-seq
MIRT1247490	hsa-miR-532-3p	CLIP-seq
MIRT1247491	hsa-miR-542-5p	CLIP-seq
MIRT1247492	hsa-miR-548ac	CLIP-seq
MIRT1247493	hsa-miR-548ae	CLIP-seq
MIRT1247494	hsa-miR-548aj	CLIP-seq
MIRT1247495	hsa-miR-548am	CLIP-seq
MIRT1247496	hsa-miR-548d-3p	CLIP-seq
MIRT1247497	hsa-miR-548x	CLIP-seq
MIRT1247498	hsa-miR-548z	CLIP-seq
MIRT1247499	hsa-miR-642a	CLIP-seq
MIRT1247500	hsa-miR-644	CLIP-seq
MIRT1247501	hsa-miR-646	CLIP-seq
MIRT1247502	hsa-miR-663b	CLIP-seq
MIRT1247503	hsa-miR-671-5p	CLIP-seq
MIRT1247504	hsa-miR-877	CLIP-seq
MIRT1247505	hsa-miR-936	CLIP-seq
MIRT1247506	hsa-miR-941	CLIP-seq
MIRT1247439	hsa-miR-1207-5p	CLIP-seq
MIRT1247445	hsa-miR-1324	CLIP-seq
MIRT1247447	hsa-miR-15a	CLIP-seq
MIRT1247448	hsa-miR-15b	CLIP-seq
MIRT1247449	hsa-miR-16	CLIP-seq
MIRT1247450	hsa-miR-195	CLIP-seq
MIRT1247456	hsa-miR-3663-5p	CLIP-seq
MIRT1247462	hsa-miR-424	CLIP-seq
MIRT1247471	hsa-miR-4524	CLIP-seq
MIRT1247472	hsa-miR-4527	CLIP-seq
MIRT1247474	hsa-miR-4645-3p	CLIP-seq
MIRT1247480	hsa-miR-4736	CLIP-seq
MIRT1247481	hsa-miR-4757-5p	CLIP-seq
MIRT1247482	hsa-miR-4763-3p	CLIP-seq
MIRT1247483	hsa-miR-4764-5p	CLIP-seq
MIRT1247486	hsa-miR-497	CLIP-seq
MIRT1247487	hsa-miR-503	CLIP-seq
MIRT1247491	hsa-miR-542-5p	CLIP-seq
MIRT1247501	hsa-miR-646	CLIP-seq
MIRT1247502	hsa-miR-663b	CLIP-seq
MIRT1247503	hsa-miR-671-5p	CLIP-seq
MIRT1247505	hsa-miR-936	CLIP-seq
MIRT1247438	hsa-miR-1200	CLIP-seq
MIRT2300205	hsa-miR-1294	CLIP-seq
MIRT1247451	hsa-miR-2467-5p	CLIP-seq
MIRT1247452	hsa-miR-3074-5p	CLIP-seq
MIRT1247454	hsa-miR-3188	CLIP-seq
MIRT2300206	hsa-miR-3918	CLIP-seq
MIRT1247460	hsa-miR-3929	CLIP-seq
MIRT1247461	hsa-miR-3975	CLIP-seq
MIRT1247465	hsa-miR-4324	CLIP-seq
MIRT1247466	hsa-miR-4419b	CLIP-seq
MIRT1247470	hsa-miR-4478	CLIP-seq
MIRT1247475	hsa-miR-4649-3p	CLIP-seq
MIRT2300207	hsa-miR-4685-5p	CLIP-seq
MIRT1247485	hsa-miR-485-5p	CLIP-seq
MIRT2596938	hsa-miR-1234	CLIP-seq
MIRT2596939	hsa-miR-125a-3p	CLIP-seq
MIRT2596940	hsa-miR-3934	CLIP-seq
MIRT2596941	hsa-miR-4778-3p	CLIP-seq
MIRT2596942	hsa-miR-764	CLIP-seq
MIRT2596938	hsa-miR-1234	CLIP-seq
MIRT2596939	hsa-miR-125a-3p	CLIP-seq
MIRT2596940	hsa-miR-3934	CLIP-seq
MIRT2596941	hsa-miR-4778-3p	CLIP-seq
MIRT2596942	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IMP	16762037
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0000731	Process	DNA synthesis involved in DNA repair	IEA
GO:0000731	Process	DNA synthesis involved in DNA repair	IMP	1730053
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	16762037
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8486689
GO:0003682	Function	Chromatin binding	IDA	16762037
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	IMP	16762037
GO:0005515	Function	Protein binding	IPI	10801849, 28514442, 32296183, 33961781, 35512704
GO:0005634	Component	Nucleus	IDA	16762037
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	16762037
GO:0006260	Process	DNA replication	TAS	8486689
GO:0006261	Process	DNA-templated DNA replication	IDA	33051204
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006272	Process	Leading strand elongation	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006287	Process	Base-excision repair, gap-filling	IBA
GO:0006287	Process	Base-excision repair, gap-filling	IDA	10559260
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IBA
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IMP	20227374
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008310	Function	Single-stranded DNA 3'-5' DNA exonuclease activity	IBA
GO:0008622	Component	Epsilon DNA polymerase complex	IBA
GO:0008622	Component	Epsilon DNA polymerase complex	IDA	10801849, 22465957
GO:0008622	Component	Epsilon DNA polymerase complex	IEA
GO:0008622	Component	Epsilon DNA polymerase complex	IPI	10801849
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0034061	Function	DNA polymerase activity	IEA
GO:0045004	Process	DNA replication proofreading	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0071897	Process	DNA biosynthetic process	IEA

Other IDs

• MIM: 174762
• HGNC: 9177
• e!Ensembl: ENSG00000177084

Protein

• UniProt ID: Q07864
• Protein name: DNA polymerase epsilon catalytic subunit A (EC 2.7.7.7) (3'-5' exodeoxyribonuclease) (EC 3.1.11.-) (DNA polymerase II subunit A)
• Protein function: Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication
• PDB: 5VBN, 7PFO, 7PLO, 9B8S, 9B8T, 9F6D, 9F6E, 9F6F, 9F6I, 9F6J, 9F6K, 9F6L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03104	DNA_pol_B_exo1	86 → 427	DNA polymerase family B, exonuclease domain	Family
  PF00136	DNA_pol_B	620 → 1147	DNA polymerase family B	Family
  PF08490	DUF1744	1536 → 1925	Domain of unknown function (DUF1744)	Domain

• Sequence:

  MSLRSGGRRRADPGADGEASRDDGATSSVSALKRLERSQWTDKMDLRFGFERLKEPGEKT
  GWLINMHPTEILDEDKRLGSAVDYYFIQDDGSRFKVALPYKPYFYIATRKGCEREVSSFL
  SKKFQGKIAKVETVPKEDLDLPNHLVGLKRNYIRLSFHTVEDLVKVRKEISPAVKKNREQ
  DHASDAYTALLSSVLQRGGVITDEEETSKKIADQLDNIVDMREYDVPYHIRLSIDLKIHV
  AHWYNVRYRGNAFPVEITRRDDLVERPDPVVLAFDIETTKLPLKFPDAETDQIMMISYMI
  DGQGYLITNREIVSEDIEDFEFTPKPEYEGPFCVFNEPDEAHLIQRWFEHVQETKPTIMV
  TYNGDFFDWPFVEARAAVHGLSMQQEIGFQKDSQGEYKAPQCIHMDCLRWVKRDSYLPVG
  SHNLKAAAKAKLGYDPVELDPEDMCRMATEQPQTLATYSVSDAVATYYLYMKYVHPFIFA
  LCTIIPMEPDEVLRKGSGTLCEALLMVQAFHANIIFPNKQEQEFNKLTDDGHVLDSETYV
  GGHVEALESGVFRSDIPCRFRMNPAAFDFLLQRVEKTLRHALEEEEKVPVEQVTNFEEVC
  DEIKSKLASLKDVPSRIECPLIYHLDVGAMYPNIILTNRLQPSAMVDEATCAACDFNKPG
  ANCQRKMAWQWRGEFMPASRSEYHRIQHQLESEKFPPLFPEGPARAFHELSREEQAKYEK
  RRLADYCRKAYKKIHITKVEERLTTICQRENSFYVDTVRAFRDRRYEFKGLHKVWKKKLS
  AAVEVGDAAEVKRCKNMEVLYDSLQLAHKCILNSFYGYVMRKGARWYSMEMAGIVCFTGA
  NIITQARELIEQIGRPLELDTDGIWCVLPNSFPENFVFKTTNVKKPKVTISYPGAMLNIM
  VKEGFTNDQYQELAEPSSLTYVTRSENSIFFEVDGPYLAMILPASKEEGKKLKKRYAVFN
  EDGSLAELKGFEVKRRGELQLIKIFQSSVFEAFLKGSTLEEVYGSVAKVADYWLDVLYSK
  AANMPDSELFELISENRSMSRKLEDYGEQKSTSISTAKRLAEFLGDQMVKDAGLSCRYII
  SRKPEGSPVTERAIPLAIFQAEPTVRKHFLRKWLKSSSLQDFDIRAILDWDYYIERLGSA
  IQKIITIPAALQQVKNPVPRVKHPDWLHKKLLEKNDVYKQKKISELFTLEGRRQVTMAEA
  SEDSPRPSAPDMEDFGLVKLPHPAAPVTVKRKRVLWESQEESQDLTPTVPWQEILGQPPA
  LGTSQEEWLVWLRFHKKKWQLQARQRLARRKRQRLESAEGVLRPGAIRDGPATGLGSFLR
  RTARSILDLPWQIVQISETSQAGLFRLWALVGSDLHCIRLSIPRVFYVNQRVAKAEEGAS
  YRKVNRVLPRSNMVYNLYEYSVPEDMYQEHINEINAELSAPDIEGVYETQVPLLFRALVH
  LGCVCVVNKQLVRHLSGWEAETFALEHLEMRSLAQFSYLEPGSIRHIYLYHHAQAHKALF
  GIFIPSQRRASVFVLDTVRSNQMPSLGALYSAEHGLLLEKVGPELLPPPKHTFEVRAETD
  LKTICRAIQRFLLAYKEERRGPTLIAVQSSWELKRLASEIPVLEEFPLVPICVADKINYG
  VLDWQRHGARRMIRHYLNLDTCLSQAFEMSRYFHIPIGNLPEDISTFGSDLFFARHLQRH
  NHLLWLSPTARPDLGGKEADDNCLVMEFDDQATVEINSSGCYSTVCVELDLQNLAVNTIL
  QSHHVNDMEGADSMGISFDVIQQASLEDMITGGQAASAPASYDETALCSNTFRILKSMVV
  GWVKEITQYHNIYADNQVMHFYRWLRSPSSLLHDPALHRTLHNMMKKLFLQLIAEFKRLG
  SSVIYANFNRIILCTKKRRVEDAIAYVEYITSSIHSKETFHSLTISFSRCWEFLLWMDPS
  NYGGIKGKVSSRIHCGLQDSQKAGGAEDEQENEDDEEERDGEEEEEAEESNVEDLLENNW
  NILQFLPQAASCQNYFLMIVSAYIVAVYHCMKDGLRRSAPGSTPVRRRGASQLSQEAEGA
  VGALPGMITFSQDYVANELTQSFFTITQKIQKKVTGSRNSTELSEMFPVLPGSHLLLNNP
  ALEFIKYVCKVLSLDTNITNQVNKLNRDLLRLVDVGEFSEEAQFRDPCRSYVLPEVICRS
  CNFCRDLDLCKDSSFSEDGAVLPQWLCSNCQAPYDSSAIEMTLVEVLQKKLMAFTLQDLV
  CLKCRGVKETSMPVYCSCAGDFALTIHTQVFMEQIGIFRNIAQHYGMSYLLETLEWLLQK
  NPQLGH

• Sequence length: 2286

Pathways

KEGG:

DNA replication
Base excision repair
Nucleotide excision repair

Reactome:

Recognition of DNA damage by PCNA-containing replication complex
PCNA-Dependent Long Patch Base Excision Repair
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
DNA replication initiation
Activation of the pre-replicative complex

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Carcinoma of colon	Likely pathogenic	rs2043088809	RCV001356432
Colorectal cancer	Pathogenic	rs2042774602	RCV001293842
Colorectal cancer, susceptibility to, 12	Likely pathogenic; Pathogenic	rs1060500806, rs775867835, rs2542157997, rs2542096701, rs2135949218, rs138748289, rs1057517634, rs1057519256, rs483352909, rs1555300846, rs1565986506, rs761329565	RCV002602818 RCV002615090 RCV002741216 RCV003333822 RCV003448499 RCV005409940 RCV000409576 RCV000415655 RCV000033144 RCV000662518 RCV000690905 RCV000767390
Colorectal carcinoma	Likely pathogenic	rs1565973210	RCV005414271
Cystic fibrosis-gastritis-megaloblastic anemia syndrome	Pathogenic	rs483352909	RCV001420787
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	Pathogenic; Likely pathogenic	rs2136051965, rs2138692842, rs1060500808, rs483352909, rs780843358	RCV003222368 RCV002250945 RCV001535434 RCV000762892 RCV000659251
Familial colorectal cancer	Likely pathogenic	rs1060500808	RCV001535434
Familial colorectal cancer type X	Pathogenic	rs483352909	RCV005357246
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs483352909, rs762985435, rs2042021811	RCV000570294 RCV005463119 RCV005463285
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	Likely pathogenic; Pathogenic	rs2138431829, rs2041825246, rs762985435	RCV002221859 RCV002471307 RCV000757960
Myoepithelial tumor	Pathogenic	rs2542066600	RCV002463907
Neoplasm	Pathogenic	rs483352909	RCV005229841
Papillary renal cell carcinoma type 1	Likely pathogenic	rs867360056	RCV005934674
POLE-related disorder	Likely pathogenic; Pathogenic	rs2542009211, rs2541903490, rs762985435	RCV004536660 RCV004536902 RCV002286421
POLE-related polyposis and colorectal cancer syndrome	Likely pathogenic; Pathogenic	rs762985435	RCV005367533
Polymerase proofreading-related adenomatous polyposis	Pathogenic	rs483352909	RCV005357246

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity; Benign	rs5744908, rs531482240, rs34047482, rs5745024, rs5745025, rs5744753, rs5744761	RCV005918909 RCV005893750 RCV005893768 RCV005896445 RCV005896379 RCV005904297 RCV005904289
Adenocarcinoma of the large intestine	Uncertain significance	rs1593696233	RCV006254402
Cancer or benign tumor	Uncertain significance	rs115452769	RCV005625609
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs542388294, rs34047482, rs137860861, rs5745025, rs5744977	RCV005928712 RCV005893772 RCV005895316 RCV005896381 RCV005905615
Cholangiocarcinoma	Benign; Likely benign	rs34047482, rs5744753, rs5744977	RCV005893780 RCV005904299 RCV005905617
Colon adenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs34047482, rs1251654299	RCV005893767 RCV005869536
Colon cancer	Uncertain significance	rs761765763	RCV000677898
Colorectal cancer susceptibility 12	Uncertain significance	rs1184564186	RCV001258183
Colorectal cancer, susceptibility to, 10	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs150564856, rs151273553, rs138207610, rs143981093, rs56081968, rs5744800, rs753999122, rs759414746, rs768504121, rs2541841955, rs766094330, rs777791883, rs150032060, rs542430685, rs374237142, rs752846614, rs773475133, rs1593076741, rs113809231, rs1060500890	RCV005600821 RCV005600820 RCV005600822 RCV005600868 RCV005600866 RCV005600864 RCV005600863 RCV005600862 RCV005600878 RCV005602076 RCV005600903 RCV005600910 RCV005600919 RCV005600939 RCV005600917 RCV005600982 RCV005601613 RCV005601639 RCV005601658 RCV005601716
Diffuse midline glioma, H3 K27-altered	Uncertain significance; Conflicting classifications of pathogenicity	rs773738016, rs1233033042, rs2043299375	RCV003313069 RCV004776293 RCV004776303
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Uncertain significance	rs1565972665	RCV006254140
Endometrial carcinoma	Benign	rs11146986	RCV001354546
Endometrioid adenocarcinoma	Conflicting classifications of pathogenicity	rs1057519943	RCV002480276
Familial cancer of breast	Likely benign; Benign	rs375256819, rs2136010953, rs369732588	RCV005895319 RCV005935071 RCV005870742
Familial ovarian cancer	Uncertain significance; Benign; Likely benign	rs747165215, rs755370377	RCV001356341 RCV001356287
Gastric cancer	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs543301804, rs34047482, rs201273415, rs1357052511, rs1565980363, rs5744761	RCV005925564 RCV005893775 RCV005890965 RCV005900301 RCV005901734 RCV005904292
Germ cell tumor of testis	Benign	rs5744761	RCV005904296
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs34047482, rs141619382	RCV005893769 RCV005895318
Hereditary cancer	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs139075637, rs538875477, rs774747998, rs114119067, rs141619382, rs115830215, rs36120395, rs149029910, rs115452881, rs201115064, rs373768478, rs749992643, rs374140892, rs866548835, rs985504177, rs754518522, rs1456049352, rs904849438, rs2043122011	RCV003491962 RCV003492011 RCV003492010 RCV003492009 RCV003492008 RCV004701320 RCV003492007 RCV005235184 RCV003492006 RCV003492020 RCV003492049 RCV003492050 RCV003492051 RCV003492071 RCV003492098 RCV003492097 RCV004702250 RCV003492133 RCV003492246
Inherited polyposis and early onset colorectal cancer - germline testing	Conflicting classifications of pathogenicity	rs757413516	RCV005245496
Intestinal polyposis syndrome	Conflicting classifications of pathogenicity	rs879254126	RCV005625679
Lung cancer	-; Benign; Likely benign; Uncertain significance	rs2138660149, rs34047482, rs5745024, rs5745025, rs751818136, rs5744977	RCV005922747 RCV005893781 RCV005896447 RCV005896382 RCV005899439 RCV005905618
Malignant lymphoma, large B-cell, diffuse	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs2135990285, rs2138688434, rs757453683, rs369732588, rs5744753	RCV005912757 RCV005922838 RCV005896949 RCV005870745 RCV005904298
Malignant tumor of breast	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1593709200, rs1432402314, rs147692158, rs5744800, rs140566004, rs200776293, rs5744946, rs75329753, rs748008084, rs878854847, rs139182500	RCV001357926 RCV001357212 RCV001357617 RCV001358149 RCV001356034 RCV001358582 RCV001358208 RCV001357090 RCV001269354 RCV001355736 RCV001354850
Malignant tumor of esophagus	Benign; Likely benign	rs34047482, rs5745025, rs369732588, rs5744761, rs5744977	RCV005893770 RCV005896380 RCV005870743 RCV005904290 RCV005905614
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs1431917980	RCV005922848
Melanoma	Benign; Conflicting classifications of pathogenicity	rs34047482, rs879254173	RCV005893779 RCV006253927
Neuroepithelial neoplasm	Conflicting classifications of pathogenicity	rs201744227	RCV004776279
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs34047482, rs369732588	RCV005893771 RCV005870744
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs5744755, rs34047482, rs5745024, rs775843286, rs5744761, rs5744977	RCV005918939 RCV005893776 RCV005896446 RCV005899440 RCV005904293 RCV005905616
Pediatric high-grade glioma	Uncertain significance; Conflicting classifications of pathogenicity	rs374022997, rs200776293	RCV004776280 RCV004772905
POLE Exonuclease Domain Mutation	Uncertain significance	rs376140352	RCV000662064
Programmed death ligand-1 (PD-L1) blocking antibody response	Conflicting classifications of pathogenicity; drug response	rs1057519943, rs1555229108	RCV000626454 RCV000626455
Sarcoma	Benign	rs34047482	RCV005893774
Squamous cell carcinoma of the head and neck	Uncertain significance	rs779223088	RCV005899438
Squamous cell lung carcinoma	Uncertain significance	rs774645622	RCV005896950
Thymoma	Likely benign; Benign	rs5744908, rs34047482, rs5744761	RCV005918910 RCV005893777 RCV005904295
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs1267471123, rs34047482, rs5744760, rs761812100	RCV005922872 RCV005893778 RCV005895314 RCV005901663
Uterine carcinosarcoma	Benign	rs5744761	RCV005904294
Uterine corpus endometrial carcinoma	Likely benign; Conflicting classifications of pathogenicity; Benign	rs5744908, rs59342460, rs372169366, rs34047482, rs5744760, rs5745024, rs5745025, rs1060504076, rs369732588, rs749117997, rs5744977	RCV005918911 RCV005919111 RCV005893716 RCV005893782 RCV005895315 RCV005896448 RCV005896383 RCV005899513 RCV005869535 RCV005896951 RCV005905619
Uveal melanoma	Benign	rs5744761	RCV005904291
XFE progeroid syndrome	Uncertain significance	rs373000452	RCV004813079

Associations from Text Mining
Disease Name	Relationship Type	References
Adrenal Gland Diseases	Associate	30503519
Autistic Disorder	Associate	30503519
Colorectal Neoplasms	Associate	25860647, 33764464
Endometrial Neoplasms	Associate	29955143, 33174010
Facial Dysmorphism with Multiple Malformations	Associate	23230001
Fetal Growth Retardation	Associate	30503519
Growth Disorders	Associate	23230001
Immune System Diseases	Associate	30503519
Immunologic Deficiency Syndromes	Associate	23230001, 30503519
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	30503519
Leukemia Lymphoid	Associate	30503519
Livedoid Vasculopathy	Associate	23230001
Neoplasms	Associate	33764464
Ovarian Neoplasms	Associate	25860647
Urogenital Abnormalities	Associate	30503519