Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2237
Gene name	Flap structure-specific endonuclease 1
Gene symbol	FEN1
Synonyms (NCBI Gene)	FEN-1MF1RAD2
Chromosome	11
Chromosome location	11q12.2
Summary	The protein encoded by this gene removes 5` overhanging flaps in DNA repair and processes the 5` ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excis

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000116	hsa-miR-24-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	19748357
MIRT000116	hsa-miR-24-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	19748357
MIRT016610	hsa-miR-193b-3p	Proteomics	21512034
MIRT016610	hsa-miR-193b-3p	Microarray	20304954
MIRT024421	hsa-miR-215-5p	Microarray	19074876
MIRT025481	hsa-miR-34a-5p	Proteomics	21566225
MIRT025481	hsa-miR-34a-5p	Proteomics	21566225
MIRT026838	hsa-miR-192-5p	Microarray	19074876
MIRT000116	hsa-miR-24-3p	Reporter assay;Western blot;qRT-PCR;Microarray;Other	19748357
MIRT052079	hsa-let-7b-5p	CLASH	23622248
MIRT047080	hsa-miR-183-5p	CLASH	23622248
MIRT042974	hsa-miR-324-3p	CLASH	23622248
MIRT036309	hsa-miR-1229-3p	CLASH	23622248
MIRT267491	hsa-miR-140-5p	PAR-CLIP	20371350
MIRT333719	hsa-miR-548n	PAR-CLIP	20371350
MIRT333726	hsa-miR-548av-3p	PAR-CLIP	20371350
MIRT567567	hsa-miR-548g-3p	PAR-CLIP	20371350
MIRT567566	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT567565	hsa-miR-548k	PAR-CLIP	20371350
MIRT567564	hsa-miR-8054	PAR-CLIP	20371350
MIRT333717	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT567563	hsa-miR-6800-3p	PAR-CLIP	20371350
MIRT267494	hsa-miR-4293	PAR-CLIP	20371350
MIRT567562	hsa-miR-885-5p	PAR-CLIP	20371350
MIRT267495	hsa-miR-4324	PAR-CLIP	20371350
MIRT567561	hsa-miR-544b	PAR-CLIP	20371350
MIRT267504	hsa-miR-6719-3p	PAR-CLIP	20371350
MIRT267496	hsa-miR-4251	PAR-CLIP	20371350
MIRT267500	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT267492	hsa-miR-1253	PAR-CLIP	20371350
MIRT267506	hsa-miR-6770-5p	PAR-CLIP	20371350
MIRT567560	hsa-miR-2114-3p	PAR-CLIP	20371350
MIRT567559	hsa-miR-6823-3p	PAR-CLIP	20371350
MIRT333716	hsa-miR-610	PAR-CLIP	20371350
MIRT333728	hsa-miR-6124	PAR-CLIP	20371350
MIRT567558	hsa-miR-5087	PAR-CLIP	20371350
MIRT567557	hsa-miR-378a-5p	PAR-CLIP	20371350
MIRT333718	hsa-miR-1200	PAR-CLIP	20371350
MIRT267507	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT567556	hsa-miR-3074-5p	PAR-CLIP	20371350
MIRT567555	hsa-miR-7152-5p	PAR-CLIP	20371350
MIRT267508	hsa-miR-8055	PAR-CLIP	20371350
MIRT567554	hsa-miR-628-5p	PAR-CLIP	20371350
MIRT267491	hsa-miR-140-5p	PAR-CLIP	20371350
MIRT333719	hsa-miR-548n	PAR-CLIP	20371350
MIRT333726	hsa-miR-548av-3p	PAR-CLIP	20371350
MIRT567567	hsa-miR-548g-3p	PAR-CLIP	20371350
MIRT567566	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT567565	hsa-miR-548k	PAR-CLIP	20371350
MIRT567564	hsa-miR-8054	PAR-CLIP	20371350
MIRT333717	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT567563	hsa-miR-6800-3p	PAR-CLIP	20371350
MIRT267494	hsa-miR-4293	PAR-CLIP	20371350
MIRT567562	hsa-miR-885-5p	PAR-CLIP	20371350
MIRT267495	hsa-miR-4324	PAR-CLIP	20371350
MIRT567561	hsa-miR-544b	PAR-CLIP	20371350
MIRT267504	hsa-miR-6719-3p	PAR-CLIP	20371350
MIRT267496	hsa-miR-4251	PAR-CLIP	20371350
MIRT267500	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT267492	hsa-miR-1253	PAR-CLIP	20371350
MIRT267506	hsa-miR-6770-5p	PAR-CLIP	20371350
MIRT567560	hsa-miR-2114-3p	PAR-CLIP	20371350
MIRT567559	hsa-miR-6823-3p	PAR-CLIP	20371350
MIRT333716	hsa-miR-610	PAR-CLIP	20371350
MIRT333728	hsa-miR-6124	PAR-CLIP	20371350
MIRT567558	hsa-miR-5087	PAR-CLIP	20371350
MIRT567557	hsa-miR-378a-5p	PAR-CLIP	20371350
MIRT333718	hsa-miR-1200	PAR-CLIP	20371350
MIRT267507	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT567556	hsa-miR-3074-5p	PAR-CLIP	20371350
MIRT567555	hsa-miR-7152-5p	PAR-CLIP	20371350
MIRT267508	hsa-miR-8055	PAR-CLIP	20371350
MIRT567554	hsa-miR-628-5p	PAR-CLIP	20371350
MIRT994697	hsa-miR-199a-5p	CLIP-seq
MIRT994698	hsa-miR-199b-5p	CLIP-seq
MIRT994699	hsa-miR-4659a-3p	CLIP-seq
MIRT994700	hsa-miR-4659b-3p	CLIP-seq
MIRT994701	hsa-miR-4711-3p	CLIP-seq
MIRT994702	hsa-miR-548aa	CLIP-seq
MIRT994703	hsa-miR-570	CLIP-seq
MIRT1994991	hsa-miR-1202	CLIP-seq
MIRT1994992	hsa-miR-1207-3p	CLIP-seq
MIRT1994993	hsa-miR-1248	CLIP-seq
MIRT1994994	hsa-miR-125a-3p	CLIP-seq
MIRT1994995	hsa-miR-3183	CLIP-seq
MIRT1994996	hsa-miR-3187-3p	CLIP-seq
MIRT1994997	hsa-miR-3194-5p	CLIP-seq
MIRT1994998	hsa-miR-3591-5p	CLIP-seq
MIRT1994999	hsa-miR-3686	CLIP-seq
MIRT1995000	hsa-miR-3922-5p	CLIP-seq
MIRT1995001	hsa-miR-3972	CLIP-seq
MIRT1995002	hsa-miR-4435	CLIP-seq
MIRT1995003	hsa-miR-4652-3p	CLIP-seq
MIRT1995004	hsa-miR-4659a-5p	CLIP-seq
MIRT1995005	hsa-miR-4659b-5p	CLIP-seq
MIRT1995006	hsa-miR-4701-5p	CLIP-seq
MIRT1995007	hsa-miR-4715-5p	CLIP-seq
MIRT1995008	hsa-miR-4723-3p	CLIP-seq
MIRT1995009	hsa-miR-4724-5p	CLIP-seq
MIRT1995010	hsa-miR-4755-3p	CLIP-seq
MIRT1995011	hsa-miR-4776-3p	CLIP-seq
MIRT1995012	hsa-miR-499-3p	CLIP-seq
MIRT1995013	hsa-miR-499a-3p	CLIP-seq
MIRT1995014	hsa-miR-512-5p	CLIP-seq
MIRT1995015	hsa-miR-548s	CLIP-seq
MIRT1995016	hsa-miR-588	CLIP-seq
MIRT1995017	hsa-miR-663b	CLIP-seq
MIRT1994991	hsa-miR-1202	CLIP-seq
MIRT1994992	hsa-miR-1207-3p	CLIP-seq
MIRT2229059	hsa-miR-1251	CLIP-seq
MIRT2229060	hsa-miR-1252	CLIP-seq
MIRT2229061	hsa-miR-1343	CLIP-seq
MIRT2229062	hsa-miR-202	CLIP-seq
MIRT2229063	hsa-miR-3137	CLIP-seq
MIRT2229064	hsa-miR-3173-3p	CLIP-seq
MIRT1994996	hsa-miR-3187-3p	CLIP-seq
MIRT1994997	hsa-miR-3194-5p	CLIP-seq
MIRT2229065	hsa-miR-342-5p	CLIP-seq
MIRT1994998	hsa-miR-3591-5p	CLIP-seq
MIRT2229066	hsa-miR-3667-3p	CLIP-seq
MIRT1994999	hsa-miR-3686	CLIP-seq
MIRT1995001	hsa-miR-3972	CLIP-seq
MIRT2229067	hsa-miR-4297	CLIP-seq
MIRT2229068	hsa-miR-4314	CLIP-seq
MIRT2229069	hsa-miR-4426	CLIP-seq
MIRT1995002	hsa-miR-4435	CLIP-seq
MIRT2229070	hsa-miR-4456	CLIP-seq
MIRT2229071	hsa-miR-4647	CLIP-seq
MIRT2229072	hsa-miR-4651	CLIP-seq
MIRT1995003	hsa-miR-4652-3p	CLIP-seq
MIRT2229073	hsa-miR-4662b	CLIP-seq
MIRT2229074	hsa-miR-4664-5p	CLIP-seq
MIRT2229075	hsa-miR-4667-5p	CLIP-seq
MIRT2229076	hsa-miR-4700-5p	CLIP-seq
MIRT1995006	hsa-miR-4701-5p	CLIP-seq
MIRT1995007	hsa-miR-4715-5p	CLIP-seq
MIRT1995009	hsa-miR-4724-5p	CLIP-seq
MIRT2229077	hsa-miR-4768-5p	CLIP-seq
MIRT2229078	hsa-miR-4778-5p	CLIP-seq
MIRT2229079	hsa-miR-4787-3p	CLIP-seq
MIRT1995014	hsa-miR-512-5p	CLIP-seq
MIRT2229080	hsa-miR-548al	CLIP-seq
MIRT1995015	hsa-miR-548s	CLIP-seq
MIRT1995016	hsa-miR-588	CLIP-seq
MIRT2229081	hsa-miR-608	CLIP-seq
MIRT2229082	hsa-miR-637	CLIP-seq
MIRT2229083	hsa-miR-760	CLIP-seq
MIRT2229077	hsa-miR-4768-5p	CLIP-seq
MIRT2229059	hsa-miR-1251	CLIP-seq
MIRT2229060	hsa-miR-1252	CLIP-seq
MIRT2229061	hsa-miR-1343	CLIP-seq
MIRT2532711	hsa-miR-1913	CLIP-seq
MIRT2532712	hsa-miR-193a-3p	CLIP-seq
MIRT2532713	hsa-miR-193b	CLIP-seq
MIRT2229062	hsa-miR-202	CLIP-seq
MIRT2532714	hsa-miR-214	CLIP-seq
MIRT2229063	hsa-miR-3137	CLIP-seq
MIRT2532715	hsa-miR-3156-3p	CLIP-seq
MIRT2532716	hsa-miR-3160-5p	CLIP-seq
MIRT2229064	hsa-miR-3173-3p	CLIP-seq
MIRT1994995	hsa-miR-3183	CLIP-seq
MIRT2229065	hsa-miR-342-5p	CLIP-seq
MIRT2532717	hsa-miR-3619-5p	CLIP-seq
MIRT2229066	hsa-miR-3667-3p	CLIP-seq
MIRT1995000	hsa-miR-3922-5p	CLIP-seq
MIRT2532718	hsa-miR-3929	CLIP-seq
MIRT2532719	hsa-miR-4267	CLIP-seq
MIRT2532720	hsa-miR-4283	CLIP-seq
MIRT2532721	hsa-miR-4291	CLIP-seq
MIRT2229067	hsa-miR-4297	CLIP-seq
MIRT2532722	hsa-miR-4301	CLIP-seq
MIRT2229068	hsa-miR-4314	CLIP-seq
MIRT2532723	hsa-miR-4326	CLIP-seq
MIRT2532724	hsa-miR-4419b	CLIP-seq
MIRT2229069	hsa-miR-4426	CLIP-seq
MIRT2229070	hsa-miR-4456	CLIP-seq
MIRT2532725	hsa-miR-4478	CLIP-seq
MIRT2532726	hsa-miR-4639-5p	CLIP-seq
MIRT2532727	hsa-miR-4641	CLIP-seq
MIRT2229071	hsa-miR-4647	CLIP-seq
MIRT2229072	hsa-miR-4651	CLIP-seq
MIRT2229073	hsa-miR-4662b	CLIP-seq
MIRT2229074	hsa-miR-4664-5p	CLIP-seq
MIRT2229075	hsa-miR-4667-5p	CLIP-seq
MIRT2532728	hsa-miR-4684-5p	CLIP-seq
MIRT2532729	hsa-miR-4685-5p	CLIP-seq
MIRT2532730	hsa-miR-4686	CLIP-seq
MIRT2532731	hsa-miR-4691-5p	CLIP-seq
MIRT2229076	hsa-miR-4700-5p	CLIP-seq
MIRT1995006	hsa-miR-4701-5p	CLIP-seq
MIRT1995008	hsa-miR-4723-3p	CLIP-seq
MIRT1995009	hsa-miR-4724-5p	CLIP-seq
MIRT2532732	hsa-miR-4727-5p	CLIP-seq
MIRT2532733	hsa-miR-4761-5p	CLIP-seq
MIRT2229077	hsa-miR-4768-5p	CLIP-seq
MIRT2229078	hsa-miR-4778-5p	CLIP-seq
MIRT2229079	hsa-miR-4787-3p	CLIP-seq
MIRT2532734	hsa-miR-493	CLIP-seq
MIRT2532735	hsa-miR-508-5p	CLIP-seq
MIRT2532736	hsa-miR-513c	CLIP-seq
MIRT2532737	hsa-miR-514b-5p	CLIP-seq
MIRT2532738	hsa-miR-532-3p	CLIP-seq
MIRT2532739	hsa-miR-544	CLIP-seq
MIRT2229080	hsa-miR-548al	CLIP-seq
MIRT1995016	hsa-miR-588	CLIP-seq
MIRT2229081	hsa-miR-608	CLIP-seq
MIRT2229082	hsa-miR-637	CLIP-seq
MIRT1995017	hsa-miR-663b	CLIP-seq
MIRT2229083	hsa-miR-760	CLIP-seq
MIRT2532740	hsa-miR-761	CLIP-seq
MIRT2532741	hsa-miR-766	CLIP-seq
MIRT2532742	hsa-miR-922	CLIP-seq
MIRT2532743	hsa-miR-942	CLIP-seq
MIRT2229059	hsa-miR-1251	CLIP-seq
MIRT2229061	hsa-miR-1343	CLIP-seq
MIRT2532711	hsa-miR-1913	CLIP-seq
MIRT2532714	hsa-miR-214	CLIP-seq
MIRT2229063	hsa-miR-3137	CLIP-seq
MIRT2532716	hsa-miR-3160-5p	CLIP-seq
MIRT1994995	hsa-miR-3183	CLIP-seq
MIRT2532717	hsa-miR-3619-5p	CLIP-seq
MIRT2229066	hsa-miR-3667-3p	CLIP-seq
MIRT1995000	hsa-miR-3922-5p	CLIP-seq
MIRT2532718	hsa-miR-3929	CLIP-seq
MIRT2532719	hsa-miR-4267	CLIP-seq
MIRT2532720	hsa-miR-4283	CLIP-seq
MIRT2532721	hsa-miR-4291	CLIP-seq
MIRT2229067	hsa-miR-4297	CLIP-seq
MIRT2229068	hsa-miR-4314	CLIP-seq
MIRT2532723	hsa-miR-4326	CLIP-seq
MIRT2532724	hsa-miR-4419b	CLIP-seq
MIRT2229069	hsa-miR-4426	CLIP-seq
MIRT2229070	hsa-miR-4456	CLIP-seq
MIRT2532725	hsa-miR-4478	CLIP-seq
MIRT2532726	hsa-miR-4639-5p	CLIP-seq
MIRT2532727	hsa-miR-4641	CLIP-seq
MIRT2229071	hsa-miR-4647	CLIP-seq
MIRT2229073	hsa-miR-4662b	CLIP-seq
MIRT2229075	hsa-miR-4667-5p	CLIP-seq
MIRT2532728	hsa-miR-4684-5p	CLIP-seq
MIRT2532729	hsa-miR-4685-5p	CLIP-seq
MIRT2532730	hsa-miR-4686	CLIP-seq
MIRT2532731	hsa-miR-4691-5p	CLIP-seq
MIRT2229076	hsa-miR-4700-5p	CLIP-seq
MIRT1995008	hsa-miR-4723-3p	CLIP-seq
MIRT1995009	hsa-miR-4724-5p	CLIP-seq
MIRT2532732	hsa-miR-4727-5p	CLIP-seq
MIRT2532733	hsa-miR-4761-5p	CLIP-seq
MIRT2229077	hsa-miR-4768-5p	CLIP-seq
MIRT2229078	hsa-miR-4778-5p	CLIP-seq
MIRT2229079	hsa-miR-4787-3p	CLIP-seq
MIRT2532734	hsa-miR-493	CLIP-seq
MIRT2532735	hsa-miR-508-5p	CLIP-seq
MIRT2532736	hsa-miR-513c	CLIP-seq
MIRT2532737	hsa-miR-514b-5p	CLIP-seq
MIRT2532739	hsa-miR-544	CLIP-seq
MIRT2229080	hsa-miR-548al	CLIP-seq
MIRT2229082	hsa-miR-637	CLIP-seq
MIRT2229083	hsa-miR-760	CLIP-seq
MIRT2532740	hsa-miR-761	CLIP-seq
MIRT2532741	hsa-miR-766	CLIP-seq
MIRT2532742	hsa-miR-922	CLIP-seq
MIRT2532743	hsa-miR-942	CLIP-seq

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IBA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	TAS
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	IMP	11986308
GO:0003684	Function	Damaged DNA binding	TAS	8007985
GO:0003690	Function	Double-stranded DNA binding	TAS	8131753
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004519	Function	Endonuclease activity	TAS	8131753
GO:0004520	Function	DNA endonuclease activity	IEA
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	IBA
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	IDA	7961795
GO:0004527	Function	Exonuclease activity	IEA
GO:0004527	Function	Exonuclease activity	TAS	9778254
GO:0005515	Function	Protein binding	IPI	9305916, 11430825, 11598021, 14657243, 14688284, 15576034, 18499658, 18692475, 22551069, 26030842, 26496610, 26751069, 26760506, 28514442, 29997244, 31467278, 31515488, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	7961795, 12427278, 18995831
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005739	Component	Mitochondrion	IDA	18995831
GO:0005739	Component	Mitochondrion	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	TAS	9778254
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	8007985
GO:0006284	Process	Base-excision repair	IEA
GO:0006287	Process	Base-excision repair, gap-filling	TAS
GO:0006302	Process	Double-strand break repair	TAS	8131753
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007613	Process	Memory	IEA
GO:0008309	Function	Double-stranded DNA exodeoxyribonuclease activity	TAS	8131753
GO:0008409	Function	5'-3' exonuclease activity	IBA
GO:0008409	Function	5'-3' exonuclease activity	IDA	7961795
GO:0008409	Function	5'-3' exonuclease activity	IEA
GO:0009650	Process	UV protection	TAS	8007985
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IEA
GO:0017108	Function	5'-flap endonuclease activity	IBA
GO:0017108	Function	5'-flap endonuclease activity	IDA	18995831
GO:0017108	Function	5'-flap endonuclease activity	IEA
GO:0017108	Function	5'-flap endonuclease activity	IMP	8621570, 11986308
GO:0017108	Function	5'-flap endonuclease activity	TAS
GO:0030145	Function	Manganese ion binding	IBA
GO:0032201	Process	Telomere maintenance via semi-conservative replication	TAS
GO:0032991	Component	Protein-containing complex	IDA	25378300
GO:0043137	Process	DNA replication, removal of RNA primer	IDA	18995831
GO:0043137	Process	DNA replication, removal of RNA primer	IEA
GO:0045876	Process	Positive regulation of sister chromatid cohesion	IMP	18499658
GO:0046872	Function	Metal ion binding	IEA
GO:0048256	Function	Flap endonuclease activity	IDA	18499658

MIM	HGNC	e!Ensembl
600393	3650	ENSG00000168496

P39748

Protein name

Flap endonuclease 1 (FEN-1) (EC 3.1.-.-) (DNase IV) (Flap structure-specific endonuclease 1) (Maturation factor 1) (MF1) (hFEN-1)

Protein function

Structure-specific nuclease with 5'-flap endonuclease and 5'-3' exonuclease activities involved in DNA replication and repair. During DNA replication, cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA

PDB

1U7B , 1UL1 , 3Q8K , 3Q8L , 3Q8M , 3UVU , 5E0V , 5FV7 , 5K97 , 5KSE , 5UM9 , 5ZOD , 5ZOE , 5ZOF , 5ZOG , 6TNZ , 7QO1 , 8YJH , 8YJL , 8YJQ , 8YJR , 8YJS , 8YJU , 8YJV , 8YJW , 8YJZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00752	XPG_N	1 → 107	XPG N-terminal domain	Family
PF00867	XPG_I	146 → 233	XPG I-region	Family

Sequence

MGIQGLAKLIADVAPSAIRENDIKSYFGRKVAIDASMSIYQFLIAVRQGGDVLQNEEGET
TSHLMGMFYRTIRMMENGIKPVYVFDGKPPQLKSGELAKRSERRAEAEKQLQQAQAAGAE
QEVEKFTKRLVKVTKQHNDECKHLLSLMGIPYLDAPSEAEASCAALVKAGKVYAAATEDM
DCLTFGSPVLMRHLTASEAKKLPIQEFHLSRILQELGLNQEQFVDLCILLGSDYCESIRG
IGPKRAVDLIQKHKSIEEIVRRLDPNKYPVPENWLHKEAHQLFLEPEVLDPESVELKWSE
PNEEELIKFMCGEKQFSEERIRSGVKRLSKSRQGSTQGRLDDFFKVTGSLSSAKRKEPEP
KGSTKKKAKTGAAGKFKRGK

Sequence length

380

Interactions

View interactions

	KEGG		Reactome
	DNA replication Base excision repair Non-homologous end-joining		POLB-Dependent Long Patch Base Excision Repair Early Phase of HIV Life Cycle Removal of the Flap Intermediate from the C-strand PCNA-Dependent Long Patch Base Excision Repair HDR through MMEJ (alt-NHEJ) Removal of the Flap Intermediate

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-immune hydrops fetalis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (135)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	9894157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26431531, 27655641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	29735403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	23951112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	23555190, 27088617		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29735403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19596913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	19596913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19010819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	19010819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	16326861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	27849570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	19596913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19596913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18669164, 24440783, 24486718, 24608430, 24880630, 25111287, 25885449, 27088617, 27801669, 27852524, 29541412, 30712236, 31266372, 31471584, 31777591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19010819, 22787431, 24880630, 25111287, 25885449, 27801669, 31998443, 34117958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39766782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	34117958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32399086, 33750838, 37978846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	34117958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	14562054, 19618370, 22072618, 23184144, 27088617, 28371273, 30006924, 30260965, 31467180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32340320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24880630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	23592911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29358095, 31670906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29358095, 31670906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	26708601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	26668074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	26668074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	12110180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	12110180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28685785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22072618, 23184144, 26334567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASDB_DG	24836286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	24836286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19218431, 23382697, 28628639	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	24836286		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	31089142		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	BEFREE	10474162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	9635428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	20802161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	20802161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	20802161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20802161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	40527798	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	27019630	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27019630	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	8782829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29109095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29109095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24880630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28319330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28319330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28319330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23504502, 24022861, 28319330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	28628639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	28628639	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	28628639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	30260965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	26668074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	26668074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	26668074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19596913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19596913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19596913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23184144, 26708601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29109095, 35414100	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	24880630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11260214, 12917330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	40527798	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	29109095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22072618, 31402791, 31534853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	14562054		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	19596913		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	19596913	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	28371273		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	30260965	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18417526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	29239254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	29239254	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	24590400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27801669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18669164, 24440783, 24486718, 24608430, 24880630, 25111287, 25885449, 27088617, 27801669, 27852524, 29541412, 30712236, 31266372, 31471584, 31777591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28319330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	26668074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	22072618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	14562054, 19618370, 22072618, 23184144, 27088617, 28371273, 30006924, 30260965, 31467180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	21725308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	28371273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24880630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21909140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24590400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	19596913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17589521, 19010819, 19218431, 20929870, 21383776, 24608430, 25154853, 25885449, 26708601, 26805938, 27270424, 27852524, 28187440, 28628639, 29109095 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29358095, 31670906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28685785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	31089142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26805938, 27088617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	23592911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	16978612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	27019630	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	34117958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20929870, 24590400, 24880630, 25425972, 27088617, 27270424, 31272350, 31534853, 31670906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	29937070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	35217496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	14562054, 19596913, 28371273, 29037854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31819503		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24880630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27391345, 33169800, 35246224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21909140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37326412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	19596913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	19596913	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	14562054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28319330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36738487, 37185662, 37993428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24590400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	28628639	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22894650, 23504502, 29109095, 32586310, 37100457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	19596913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	19596913	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24880630, 26267318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	30107825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform macular dystrophy	Pubtator	9445487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	11598021, 15592449, 24608430, 27849570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	11598021, 15592449, 27849570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	29937070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	30885940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	BEFREE	7510366, 8483504		★★★★★ ★☆☆☆☆ Found in Text Mining only

FEN1 (flap structure-specific endonuclease 1)