EuRBPDB

Note: to get the extension of tumor abbreviations.

Cancer Related Information
Basic Information

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
28368425	Nucleotide selectivity defect and mutator phenotype conferred by a colon cancer-associated DNA polymerase ?? mutation in human cells.	Oncogene	2017 Aug	Mertz TM	doi: 10.1038/onc.2017.22
29807012	SIRT1 promotes proliferation, migration, and invasion of breast cancer cell line MCF-7 by upregulating DNA polymerase delta1 (POLD1).	Biochem Biophys Res Commun	2018 Jul 20	Xu Y	doi: 10.1016/j.bbrc.2018.05.164
27320729	POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.	Gene	2016 Sep 15	Nicolas E	doi: 10.1016/j.gene.2016.06.031
24509466	Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition.	Dis Colon Rectum	2014 Mar	Church JM	doi: 10.1097/DCR.0000000000000084.
26133394	POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.	Genet Med	2016 Apr	Bellido F	doi: 10.1038/gim.2015.75
26755646	A synthetic lethal screen identifies ATR-inhibition as a novel therapeutic approach for POLD1-deficient cancers.	Oncotarget	2016 Feb 9	Hocke S	doi: 10.18632/oncotarget.6857.
14767555	Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1.	Int J Oncol	2004 Mar	Yabuta T	-
23528559	DNA polymerase ?? and ?? exonuclease domain mutations in endometrial cancer.	Hum Mol Genet	2013 Jul 15	Church DN	doi: 10.1093/hmg/ddt131
25370038	Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.	Eur J Hum Genet	2015 Aug	Elsayed FA	doi: 10.1038/ejhg.2014.242
28521875	Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).	Metabolism	2017 Jun	Elouej S	doi: 10.1016/j.metabol.2017.03.011
28976792	Clinical and Genetic Risk Prediction of Subsequent CNS Tumors in Survivors of Childhood Cancer: A Report From the COG ALTE03N1 Study.	J Clin Oncol	2017 Nov 10	Wang X	doi: 10.1200/JCO.2017.74.7444
28512192	Human mismatch repair system balances mutation rates between strands by removing more mismatches from the lagging strand.	Genome Res	2017 Aug	Andrianova MA	doi: 10.1101/gr.219915.116

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
ACC	chr19	50415522	Silent	novel	I883I	0.32
BLCA	chr19	50417250	Missense_Mutation	novel	E1067K	0.5
BLCA	chr19	50401872	Silent	novel	V137V	0.2
BLCA	chr19	50402067	Missense_Mutation	rs140707092	G178W	0.49
BLCA	chr19	50414876	Missense_Mutation	rs142017093	R817Q	0.48
BLCA	chr19	50417920	Missense_Mutation	NA	F1099L	0.45
BLCA	chr19	50406179	Splice_Region	novel		0.26
BLCA	chr19	50408780	Splice_Region	NA		0.58
BLCA	chr19	50409657	Missense_Mutation	novel	E715D	0.13
BLCA	chr19	50401855	Missense_Mutation	rs781132734	D132N	0.34
BLCA	chr19	50413833	Nonsense_Mutation	novel	W781*	0.24
BRCA	chr19	50417924	Frame_Shift_Del	rs761614971	*P1102Lfs22**	0.5
BRCA	chr19	50403558	Silent	rs746700905	F401F	0.32
BRCA	chr19	50402705	Missense_Mutation	rs371612922	V312M	0.4
BRCA	chr19	50403552	Missense_Mutation	novel	Q399H	0.04
BRCA	chr19	50406448	Missense_Mutation	novel	N475K	0.4
CESC	chr19	50403558	Silent	rs746700905	F401F	0.2
CESC	chr19	50407336	Missense_Mutation	rs372429157	E566K	0.18
CESC	chr19	50399027	Missense_Mutation	novel	Q59L	0.08
CESC	chr19	50401840	Missense_Mutation	rs372299975	A127T	0.43
CESC	chr19	50403109	Missense_Mutation	rs762494977	R343C	0.42
CESC	chr19	50413428	Splice_Region	rs760678755	S719S	0.13
CESC	chr19	50409597	Silent	NA	V695V	0.33
CESC	chr19	50402067	Missense_Mutation	rs140707092	G178W	0.5
COAD	chr19	50417096	Missense_Mutation	NA	E1040G	0.14
COAD	chr19	50409518	Splice_Site	NA	X669_splice	0.24
COAD	chr19	50409600	Silent	NA	S696S	0.16
COAD	chr19	50402259	Missense_Mutation	NA	A215V	0.22
COAD	chr19	50402067	Frame_Shift_Del	NA	*R180Gfs3**	0.4
COAD	chr19	50415793	Silent	NA	A929A	0.24
COAD	chr19	50417083	Silent	NA	L1036L	0.14
COAD	chr19	50406261	Missense_Mutation	rs376711125	T441M	0.43
COAD	chr19	50415796	Frame_Shift_Ins	NA	*V933Cfs21**	0.29
COAD	chr19	50398869	Silent	rs771540531	R6R	0.52
COAD	chr19	50402289	Missense_Mutation	rs144979965	R225H	0.49
COAD	chr19	50406299	Missense_Mutation	NA	R454C	0.48
COAD	chr19	50406322	Missense_Mutation	novel	Q461H	0.27
COAD	chr19	50409560	Missense_Mutation	NA	R683H	0.22
COAD	chr19	50414868	In_Frame_Del	rs763850764	S816del	0.23
COAD	chr19	50415793	Silent	NA	A929A	0.25
COAD	chr19	50413855	Silent	NA	S788S	0.32
COAD	chr19	50413784	Missense_Mutation	rs759190487	V765M	0.25
COAD	chr19	50401798	Frame_Shift_Del	NA	*P116Hfs53**	0.54
COAD	chr19	50416609	Splice_Site	NA	X987_splice	0.52
COAD	chr19	50409147	Frame_Shift_Ins	NA	*T642Hfs97**	0.26
COAD	chr19	50403492	Splice_Site	NA	X380_splice	0.13
COAD	chr19	50401798	Frame_Shift_Del	NA	*P116Hfs53**	0.09
COAD	chr19	50402373	Missense_Mutation	novel	R253Q	0.18
COAD	chr19	50406218	Missense_Mutation	NA	L427I	0.34
COAD	chr19	50416678	Missense_Mutation	NA	R1008C	0.38
COAD	chr19	50408795	Missense_Mutation	NA	V596I	0.39
COAD	chr19	50413851	Missense_Mutation	rs199783227	P787L	0.31
COAD	chr19	50416656	Silent	rs766451656	G1000G	0.59
COAD	chr19	50398884	Silent	rs3218768	P11P	0.36
COAD	chr19	50416609	Splice_Site	NA	X987_splice	0.28
COAD	chr19	50402119	Missense_Mutation	NA	R195Q	0.32
COAD	chr19	50402638	Silent	NA	D289D	0.45
COAD	chr19	50416609	Splice_Site	NA	X987_splice	0.41
COAD	chr19	50403136	Missense_Mutation	rs762330164	R352C	0.32
COAD	chr19	50415462	Silent	NA	H863H	0.39
COAD	chr19	50401804	Frame_Shift_Del	NA	*P116Hfs53**	0.16
DLBC	chr19	50402340	Missense_Mutation	novel	A242E	0.21
ESCA	chr19	50409557	Missense_Mutation	rs773665739	R682Q	0.11
ESCA	chr19	50417985	3'UTR	novel		0.31
ESCA	chr19	50416609	Splice_Site	NA	X987_splice	0.4
ESCA	chr19	50402703	Missense_Mutation	novel	R311P	0.15
GBM	chr19	50413845	Missense_Mutation	novel	H785R	0.07
GBM	chr19	50398953	Silent	rs754716741	F34F	0.23
GBM	chr19	50414882	Missense_Mutation	novel	D819V	0.42
GBM	chr19	50409177	Missense_Mutation	novel	S650A	0.26
GBM	chr19	50402282	Missense_Mutation	novel	A223T	0.11
HNSC	chr19	50403537	Silent	novel	T394T	0.38
HNSC	chr19	50408881	Silent	rs200649908	P624P	0.41
HNSC	chr19	50402227	Silent	rs147881471	H204H	0.08
HNSC	chr19	50401816	Missense_Mutation	rs747614571	R119C	0.3
HNSC	chr19	50402535	Frame_Shift_Del	novel		0.19
HNSC	chr19	50417924	Frame_Shift_Del	rs761614971	*P1102Lfs22**	0.14
HNSC	chr19	50408877	Missense_Mutation	rs781327088	R623Q	0.11
HNSC	chr19	50398865	Missense_Mutation	rs748471297	R5Q	0.36
HNSC	chr19	50403520	Missense_Mutation	novel	D389H	0.13
KIRC	chr19	50415509	Missense_Mutation	NA	S879Y	0.42
KIRC	chr19	50401875	Silent	NA	C138C	0.34
KIRC	chr19	50402490	Nonsense_Mutation	NA	W265*	0.38
KIRP	chr19	50399030	Missense_Mutation	novel	S60L	0.51
KIRP	chr19	50417200	Missense_Mutation	novel	R1050H	0.23
KIRP	chr19	50414822	Missense_Mutation	NA	F799Y	0.35
KIRP	chr19	50414864	Missense_Mutation	novel	L813H	0.45
LGG	chr19	50409587	Missense_Mutation	NA	A692V	0.05
LGG	chr19	50415471	Silent	rs773567499	D866D	0.36
LGG	chr19	50407141	Silent	novel	Q551Q	0.21
LIHC	chr19	50401804	Frame_Shift_Del	NA	*P116Hfs53**	0.41
LIHC	chr19	50398926	Silent	novel	D25D	0.27
LIHC	chr19	50417908	Silent	NA	L1095L	0.31
LIHC	chr19	50409577	Missense_Mutation	rs747628342	R689W	0.22
LIHC	chr19	50417844	Missense_Mutation	rs541931950	R1074Q	0.45
LIHC	chr19	50413771	Missense_Mutation	NA	M760I	0.13
LUAD	chr19	50402738	Nonsense_Mutation	NA	K323*	0.26
LUAD	chr19	50402485	Missense_Mutation	NA	N264D	0.5
LUAD	chr19	50414970	Silent	novel	L848L	0.36
LUAD	chr19	50415548	Missense_Mutation	novel	S892F	0.33
LUAD	chr19	50415550	Missense_Mutation	novel	D893H	0.34
LUAD	chr19	50402368	Missense_Mutation	novel	E251D	0.09
LUAD	chr19	50407061	Silent	novel	R525R	0.06
LUSC	chr19	50402355	Missense_Mutation	NA	N247I	0.53
LUSC	chr19	50406264	Missense_Mutation	novel	G442V	0.28
LUSC	chr19	50415453	Silent	NA	A860A	0.37
LUSC	chr19	50399453	Silent	novel	I95I	0.16
LUSC	chr19	50406270	Missense_Mutation	novel	R444L	0.6
LUSC	chr19	50406321	Missense_Mutation	NA	Q461L	0.19
LUSC	chr19	50415453	Silent	NA	A860A	0.51
LUSC	chr19	50401886	Missense_Mutation	novel	H142L	0.11
LUSC	chr19	50402254	In_Frame_Del	novel	L216_A221del	0.19
OV	chr19	50409550	Missense_Mutation	novel	P680T	0.12
OV	chr19	50403185	Missense_Mutation	novel	V368A	0.23
OV	chr19	50409613	Missense_Mutation	novel	Y701N	0.16
OV	chr19	50415477	Missense_Mutation	novel	I868M	0.51
OV	chr19	50407007	Missense_Mutation	novel	R507C	0.11
PAAD	chr19	50402703	Missense_Mutation	rs777944185	R311H	0.12
PRAD	chr19	50402272	Silent	rs777751728	L219L	0.1
PRAD	chr19	50409601	Missense_Mutation	NA	A697T	0.42
PRAD	chr19	50415497	Missense_Mutation	rs754832710	R875H	0.63
READ	chr19	50417182	Missense_Mutation	novel	L1044P	0.31
READ	chr19	50414981	Missense_Mutation	NA	L852R	0.24
READ	chr19	50415505	Missense_Mutation	NA	I878V	0.21
READ	chr19	50407391	Missense_Mutation	novel	A584V	1
SARC	chr19	50409178	Missense_Mutation	novel	S650L	0.29
SARC	chr19	50408872	Silent	novel	L621L	0.18
SARC	chr19	50415794	Missense_Mutation	rs144111108	A930T	0.1
SARC	chr19	50408767	Intron	rs775669198		0.35
SKCM	chr19	50399386	Missense_Mutation	NA	S73L	0.24
SKCM	chr19	50403516	Silent	novel	I387I	0.38
SKCM	chr19	50406418	Silent	NA	R465R	0.46
SKCM	chr19	50402371	Splice_Region	novel	I252I	0.35
SKCM	chr19	50403558	Silent	rs746700905	F401F	0.31
SKCM	chr19	50406430	Silent	NA	L469L	0.5
SKCM	chr19	50398953	Silent	rs754716741	F34F	0.53
SKCM	chr19	50408876	Missense_Mutation	rs768773535	R623W	0.25
SKCM	chr19	50402237	Missense_Mutation	NA	P208S	0.08
SKCM	chr19	50402308	Silent	NA	I231I	0.37
SKCM	chr19	50401837	Missense_Mutation	novel	R126C	0.35
SKCM	chr19	50402039	Silent	novel	L168L	0.06
SKCM	chr19	50414847	Silent	NA	K807K	0.35
SKCM	chr19	50409609	Silent	rs748871980	S699S	0.3
SKCM	chr19	50415737	Missense_Mutation	NA	D911N	0.5
SKCM	chr19	50409552	Silent	NA	P680P	0.39
SKCM	chr19	50402238	Missense_Mutation	rs774030917	P208L	0.32
SKCM	chr19	50403576	Silent	NA	I407I	0.3
SKCM	chr19	50402259	Missense_Mutation	NA	A215G	0.64
SKCM	chr19	50402093	Silent	NA	A186A	0.13
SKCM	chr19	50402291	Missense_Mutation	NA	L226F	0.19
SKCM	chr19	50403570	Silent	novel	Y405Y	0.45
SKCM	chr19	50403571	Missense_Mutation	novel	L406F	0.44
SKCM	chr19	50415549	Silent	NA	S892S	0.41
SKCM	chr19	50408729	Intron	novel		0.14
STAD	chr19	50402066	Frame_Shift_Ins	novel	*R180Efs72**	0.26
STAD	chr19	50407008	Missense_Mutation	NA	R507H	0.1
STAD	chr19	50402315	Missense_Mutation	novel	A234T	0.09
STAD	chr19	50408767	Intron	rs775669198		0.26
STAD	chr19	50402702	Missense_Mutation	rs201010746	R311C	0.45
STAD	chr19	50408846	Missense_Mutation	novel	A613S	0.08
STAD	chr19	50407061	Missense_Mutation	rs201804732	R525W	0.09
STAD	chr19	50417979	3'UTR	novel		0.6
STAD	chr19	50402717	Missense_Mutation	NA	D316N	0.12
STAD	chr19	50401804	Frame_Shift_Del	NA	*P116Hfs53**	0.24
STAD	chr19	50403053	Missense_Mutation	NA	G324V	0.44
STAD	chr19	50409600	Silent	NA	S696S	0.14
STAD	chr19	50413453	Missense_Mutation	novel	I728L	0.42
STAD	chr19	50401804	Frame_Shift_Del	NA	*P116Hfs53**	0.1
STAD	chr19	50402347	Silent	rs778836055	Y244Y	0.08
STAD	chr19	50401838	Missense_Mutation	NA	R126H	0.23
STAD	chr19	50407402	Missense_Mutation	rs746649739	E588K	0.23
STAD	chr19	50414840	Missense_Mutation	NA	S805N	0.23
STAD	chr19	50413753	Silent	NA	G754G	0.1
STAD	chr19	50402305	Silent	NA	G230G	0.18
STAD	chr19	50413741	Splice_Site	NA	X751_splice	0.25
STAD	chr19	50413855	Silent	NA	S788S	0.15
TGCT	chr19	50414958	Silent	novel	V844V	0.14
UCEC	chr19	50406489	Missense_Mutation	novel	V489A	0.08
UCEC	chr19	50415542	Missense_Mutation	rs146344351	A890V	0.29
UCEC	chr19	50402717	Missense_Mutation	NA	D316N	0.38
UCEC	chr19	50403139	Missense_Mutation	novel	L353M	0.34
UCEC	chr19	50417880	Missense_Mutation	rs3219457	R1086Q	0.49
UCEC	chr19	50409610	Missense_Mutation	NA	V700I	0.44
UCEC	chr19	50401893	Silent	rs550836711	F144F	0.46
UCEC	chr19	50406441	Missense_Mutation	NA	T473M	0.05
UCEC	chr19	50415741	Missense_Mutation	novel	P912L	0.24
UCEC	chr19	50398859	Missense_Mutation	novel	G3V	0.32
UCEC	chr19	50407385	Missense_Mutation	rs547831370	T582M	0.38
UCEC	chr19	50407133	Missense_Mutation	rs775734510	R549C	0.48
UCEC	chr19	50413797	Missense_Mutation	novel	A769D	0.5
UCEC	chr19	50416436	Missense_Mutation	rs374016016	T954M	0.33
UCEC	chr19	50414894	Missense_Mutation	rs771734704	R823H	0.17
UCEC	chr19	50403168	Silent	novel	P362P	0.54
UCEC	chr19	50402479	Missense_Mutation	rs571623032	G262S	0.36
UCEC	chr19	50403113	Frame_Shift_Del	NA	*E346Sfs47**	0.4
UCEC	chr19	50413783	Silent	rs146960286	G764G	0.3
UCEC	chr19	50407154	Missense_Mutation	rs762273084	V556I	0.27
UCEC	chr19	50407081	Silent	rs757383245	N531N	0.13
UCEC	chr19	50402236	Silent	novel	S207S	0.21
UCEC	chr19	50406233	Silent	novel	R432R	0.31
UCEC	chr19	50408825	Missense_Mutation	novel	L606M	0.24
UCEC	chr19	50413792	Silent	novel	S767S	0.22
UCEC	chr19	50399053	Missense_Mutation	rs772866918	G68R	0.42
UCEC	chr19	50402289	Missense_Mutation	rs144979965	R225H	0.71
UCEC	chr19	50414923	Missense_Mutation	novel	R833C	0.42
UCEC	chr19	50407385	Missense_Mutation	rs547831370	T582M	0.59
UCEC	chr19	50416489	Missense_Mutation	novel	P972S	0.38
UCEC	chr19	50413441	Missense_Mutation	novel	G724R	0.47
UCEC	chr19	50413765	Silent	rs776358416	S758S	0.61
UCEC	chr19	50402728	Silent	rs377300843	C319C	0.31
UCEC	chr19	50401870	Missense_Mutation	NA	V137I	0.41
UCEC	chr19	50402338	Silent	rs764364345	F241F	0.35
UCEC	chr19	50407014	Missense_Mutation	novel	A509D	0.09
UCEC	chr19	50407328	Missense_Mutation	novel	A563D	0.08
UCEC	chr19	50408833	Silent	rs372002045	P608P	0.14
UCEC	chr19	50402687	Missense_Mutation	rs755457889	R306C	0.37
UCEC	chr19	50406301	Silent	rs773075581	R454R	0.31
UCEC	chr19	50402469	Silent	novel	T258T	0.11
UCEC	chr19	50402246	Missense_Mutation	rs200679966	R211C	0.28
UCEC	chr19	50402717	Missense_Mutation	NA	D316N	0.42
UCEC	chr19	50408877	Missense_Mutation	rs781327088	R623Q	0.43
UCEC	chr19	50406442	Silent	rs763643495	T473T	0.39
UCEC	chr19	50417916	Missense_Mutation	novel	R1098H	0.48
UCEC	chr19	50402118	Nonsense_Mutation	rs377690809	R195*	0.38
UCEC	chr19	50409140	Missense_Mutation	NA	F637L	0.48
UCEC	chr19	50413828	Silent	rs147108748	A779A	0.23
UCEC	chr19	50413852	Silent	rs759113421	P787P	0.35
UCEC	chr19	50403529	Missense_Mutation	rs778843530	V392M	0.29
UCEC	chr19	50401840	Missense_Mutation	rs372299975	A127T	0.19
UCEC	chr19	50399004	Missense_Mutation	novel	Q51H	0.44
UCEC	chr19	50406456	Missense_Mutation	rs397514632	S478N	0.31
UCEC	chr19	50402718	Missense_Mutation	novel	D316G	0.43
UCEC	chr19	50417996	3'UTR	novel		0.09
UCEC	chr19	50401923	Splice_Region	NA	P154P	0.29
UCEC	chr19	50408825	Missense_Mutation	NA	L606V	0.39
UCEC	chr19	50402723	Missense_Mutation	rs775232133	E318K	0.31
UCEC	chr19	50417987	3'UTR	novel		0.33
UCEC	chr19	50402066	Frame_Shift_Ins	novel	*R180Efs72**	0.25
UCEC	chr19	50401878	Silent	novel	C139C	0.42
UCEC	chr19	50413761	Missense_Mutation	novel	D757G	0.16
UCEC	chr19	50413851	Missense_Mutation	rs199783227	P787L	0.59
UCEC	chr19	50406452	Missense_Mutation	rs766881510	V477M	0.37
UCEC	chr19	50402067	Frame_Shift_Del	NA	*R180Gfs3**	0.41
UCEC	chr19	50402286	Missense_Mutation	rs373001984	R224H	0.35
UCEC	chr19	50401804	Frame_Shift_Del	NA	*P116Hfs53**	0.53
UCEC	chr19	50403217	Nonsense_Mutation	novel	Q379*	0.4
UCEC	chr19	50398960	Missense_Mutation	rs754269222	D37N	0.25
UCEC	chr19	50402268	Missense_Mutation	rs150010804	R218H	0.35
UCEC	chr19	50403184	Missense_Mutation	novel	V368M	0.32
UVM	chr19	50413825	Silent	novel	A778A	0.23

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
CESC	DEL	0.0847	0.027508
KIRP	DEL	0.0486	0.054726
LUSC	DEL	0.2036	1.1877e-06
PAAD	DEL	0.0815	0.035089
READ	DEL	0.0848	0.23023
TGCT	DEL	0.2867	0.0046229
UCS	DEL	0.1429	0.12448

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.0001	Kaplan-Meier Survival Analysis
STAD	0.019	Kaplan-Meier Survival Analysis
SARC	0.0031	Kaplan-Meier Survival Analysis
MESO	0.00016	Kaplan-Meier Survival Analysis
ACC	0.00011	Kaplan-Meier Survival Analysis
HNSC	0.022	Kaplan-Meier Survival Analysis
SKCM	0.012	Kaplan-Meier Survival Analysis
PRAD	0.028	Kaplan-Meier Survival Analysis
KIRP	0.028	Kaplan-Meier Survival Analysis
CESC	0.019	Kaplan-Meier Survival Analysis
LAML	0.0092	Kaplan-Meier Survival Analysis
UCEC	0.03	Kaplan-Meier Survival Analysis
LIHC	0.0001	Kaplan-Meier Survival Analysis
DLBC	0.026	Kaplan-Meier Survival Analysis
LGG	0.0001	Kaplan-Meier Survival Analysis
LUAD	0.0075	Kaplan-Meier Survival Analysis
UVM	0.00064	Kaplan-Meier Survival Analysis

Drugs

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000062822 (Gene tree)
Gene ID: 5424
Gene Symbol: POLD1
Alias: CDC2|POLD
Full Name: DNA polymerase delta 1, catalytic subunit
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 33,815 bases
Position: chr19:50,384,204-50,418,018
Accession: 9175
RBP type: non-canonical RBP
Summary: This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000596221	POLD1-206	412	-	-	- (aa)	-	-
ENST00000595904	POLD1-205	3514	-	ENSP00000472445	1133 (aa)	-	M0R2B7
ENST00000593887	POLD1-203	695	-	ENSP00000472607	105 (aa)	-	M0R2J2
ENST00000596425	POLD1-207	563	-	ENSP00000470426	188 (aa)	-	M0QZB4
ENST00000597963	POLD1-209	737	-	-	- (aa)	-	-
ENST00000593981	POLD1-204	873	-	ENSP00000469308	291 (aa)	-	M0QXQ2
ENST00000600859	POLD1-212	3474	-	ENSP00000470726	1009 (aa)	-	M0QZR8
ENST00000440232	POLD1-201	3444	XM_005259008	ENSP00000406046	1107 (aa)	XP_005259065	P28340
ENST00000601098	POLD1-213	783	-	ENSP00000472600	202 (aa)	-	M0R2I8
ENST00000644560	POLD1-216	1340	-	ENSP00000495618	447 (aa)	-	A0A2R8Y705
ENST00000593407	POLD1-202	867	-	ENSP00000469115	289 (aa)	-	M0QXE6
ENST00000613923	POLD1-214	3517	-	ENSP00000481858	1133 (aa)	-	M0R2B7
ENST00000643407	POLD1-215	3233	-	ENSP00000496078	762 (aa)	-	A0A2R8Y7K6
ENST00000600746	POLD1-211	999	-	-	- (aa)	-	-
ENST00000596648	POLD1-208	1048	-	-	- (aa)	-	-
ENST00000599857	POLD1-210	3437	-	ENSP00000473052	1107 (aa)	-	P28340

Gene Model

Click here to download ENSG00000062822's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa03030	DNA replication	KEGG
hsa03410	Base excision repair	KEGG
hsa03420	Nucleotide excision repair	KEGG
hsa03430	Mismatch repair	KEGG
hsa03440	Homologous recombination	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000062822	Urine	6E-6	23251661

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000062822	rs2230245	19	50406508	A	Obesity-related traits	23251661	[NR] g/d increase	0.04	EFO_0005190

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000062822's network

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000062822	POLD1	97	65.591	FBgn0263600	DNApol-delta	99	58.993	Drosophila_melanogaster

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000109	nucleotide-excision repair complex	20713449.	IDA	Component
GO:0000166	nucleotide binding	-	IEA	Function
GO:0000723	telomere maintenance	-	TAS	Process
GO:0000731	DNA synthesis involved in DNA repair	3335506.	IDA	Process
GO:0000731	DNA synthesis involved in DNA repair	1730053.	IMP	Process
GO:0000784	nuclear chromosome, telomeric region	24270157.	IDA	Component
GO:0003677	DNA binding	16762037.	IDA	Function
GO:0003682	chromatin binding	16762037.24939902.	IDA	Function
GO:0003684	damaged DNA binding	24939902.	IDA	Function
GO:0003887	DNA-directed DNA polymerase activity	21873635.	IBA	Function
GO:0003887	DNA-directed DNA polymerase activity	16762037.	IMP	Function
GO:0005515	protein binding	12403614.15670210.15805117.16510448.21044950.23891004.24939902.26496610.	IPI	Function
GO:0005634	nucleus	16762037.	IDA	Component
GO:0005654	nucleoplasm	-	IDA	Component
GO:0005654	nucleoplasm	-	TAS	Component
GO:0005829	cytosol	-	IDA	Component
GO:0006260	DNA replication	16762037.	IMP	Process
GO:0006261	DNA-dependent DNA replication	21873635.	IBA	Process
GO:0006281	DNA repair	3146346.	TAS	Process
GO:0006283	transcription-coupled nucleotide-excision repair	-	TAS	Process
GO:0006287	base-excision repair, gap-filling	21873635.	IBA	Process
GO:0006287	base-excision repair, gap-filling	10559260.10559261.	IDA	Process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	-	TAS	Process
GO:0006297	nucleotide-excision repair, DNA gap filling	21873635.	IBA	Process
GO:0006297	nucleotide-excision repair, DNA gap filling	20713449.	IC	Process
GO:0006297	nucleotide-excision repair, DNA gap filling	20227374.	IMP	Process
GO:0006297	nucleotide-excision repair, DNA gap filling	-	TAS	Process
GO:0006298	mismatch repair	-	TAS	Process
GO:0008296	3'-5'-exodeoxyribonuclease activity	21873635.	IBA	Function
GO:0009411	response to UV	3146346.	TAS	Process
GO:0016020	membrane	19946888.	HDA	Component
GO:0016235	aggresome	-	IDA	Component
GO:0019985	translesion synthesis	-	TAS	Process
GO:0032201	telomere maintenance via semi-conservative replication	-	TAS	Process
GO:0033683	nucleotide-excision repair, DNA incision	-	TAS	Process
GO:0034644	cellular response to UV	24939902.	IDA	Process
GO:0042769	DNA damage response, detection of DNA damage	-	TAS	Process
GO:0043625	delta DNA polymerase complex	21873635.	IBA	Component
GO:0045004	DNA replication proofreading	21873635.	IBA	Process
GO:0046872	metal ion binding	-	IEA	Function
GO:0051539	4 iron, 4 sulfur cluster binding	-	IEA	Function
GO:0055089	fatty acid homeostasis	23770608.	IMP	Process

EuRBPDB

Note: to get the extension of tumor abbreviations.

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Note: Click here to get the extension of tumor abbreviations.

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742

Note: to get the extension of tumor abbreviations.