GEN1 (GEN1 Holliday junction 5' flap endonuclease)

Gene

• Entrez ID: 348654
• Gene name: GEN1 Holliday junction 5' flap endonuclease
• Gene symbol: GEN1
• Synonyms (NCBI Gene): Gen
• Chromosome: 2
• Chromosome location: 2p24.2
• Summary: This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-termin

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024641	hsa-miR-215-5p	Microarray	19074876
MIRT026735	hsa-miR-192-5p	Microarray	19074876
MIRT709531	hsa-miR-4668-3p	HITS-CLIP	19536157
MIRT709530	hsa-miR-605-5p	HITS-CLIP	19536157
MIRT709529	hsa-miR-5584-5p	HITS-CLIP	19536157
MIRT709528	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT709527	hsa-miR-4668-5p	HITS-CLIP	19536157
MIRT709526	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT662521	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT640651	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT662520	hsa-miR-3144-3p	HITS-CLIP	23824327
MIRT640650	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT640651	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT640650	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT640651	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT640650	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT709531	hsa-miR-4668-3p	HITS-CLIP	19536157
MIRT709530	hsa-miR-605-5p	HITS-CLIP	19536157
MIRT709529	hsa-miR-5584-5p	HITS-CLIP	19536157
MIRT709528	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT709527	hsa-miR-4668-5p	HITS-CLIP	19536157
MIRT709526	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT662521	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT640651	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT662520	hsa-miR-3144-3p	HITS-CLIP	23824327
MIRT640650	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT640651	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT640650	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT640651	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT640650	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT1016375	hsa-miR-1200	CLIP-seq
MIRT1016376	hsa-miR-125a-3p	CLIP-seq
MIRT1016377	hsa-miR-1269	CLIP-seq
MIRT1016378	hsa-miR-1269b	CLIP-seq
MIRT1016379	hsa-miR-1288	CLIP-seq
MIRT1016380	hsa-miR-150	CLIP-seq
MIRT1016381	hsa-miR-193a-3p	CLIP-seq
MIRT1016382	hsa-miR-193b	CLIP-seq
MIRT1016383	hsa-miR-3129-3p	CLIP-seq
MIRT1016384	hsa-miR-3134	CLIP-seq
MIRT1016385	hsa-miR-3660	CLIP-seq
MIRT1016386	hsa-miR-4463	CLIP-seq
MIRT1016387	hsa-miR-4494	CLIP-seq
MIRT1016388	hsa-miR-4515	CLIP-seq
MIRT1016389	hsa-miR-4526	CLIP-seq
MIRT1016390	hsa-miR-4534	CLIP-seq
MIRT1016391	hsa-miR-4701-5p	CLIP-seq
MIRT1016392	hsa-miR-4735-5p	CLIP-seq
MIRT1016393	hsa-miR-4740-5p	CLIP-seq
MIRT1016394	hsa-miR-4775	CLIP-seq
MIRT1016395	hsa-miR-552	CLIP-seq
MIRT1016396	hsa-miR-588	CLIP-seq
MIRT1016397	hsa-miR-590-3p	CLIP-seq
MIRT1016398	hsa-miR-671-3p	CLIP-seq
MIRT1016399	hsa-miR-1183	CLIP-seq
MIRT1016400	hsa-miR-1228	CLIP-seq
MIRT1016401	hsa-miR-1260	CLIP-seq
MIRT1016402	hsa-miR-1260b	CLIP-seq
MIRT1016403	hsa-miR-127-5p	CLIP-seq
MIRT1016404	hsa-miR-1278	CLIP-seq
MIRT1016405	hsa-miR-1293	CLIP-seq
MIRT1016406	hsa-miR-1303	CLIP-seq
MIRT1016407	hsa-miR-137	CLIP-seq
MIRT1016408	hsa-miR-145	CLIP-seq
MIRT1016380	hsa-miR-150	CLIP-seq
MIRT1016409	hsa-miR-155	CLIP-seq
MIRT1016410	hsa-miR-181a	CLIP-seq
MIRT1016411	hsa-miR-181b	CLIP-seq
MIRT1016412	hsa-miR-181c	CLIP-seq
MIRT1016413	hsa-miR-181d	CLIP-seq
MIRT1016414	hsa-miR-188-3p	CLIP-seq
MIRT1016415	hsa-miR-192	CLIP-seq
MIRT1016416	hsa-miR-2052	CLIP-seq
MIRT1016417	hsa-miR-2110	CLIP-seq
MIRT1016418	hsa-miR-215	CLIP-seq
MIRT1016419	hsa-miR-218	CLIP-seq
MIRT1016420	hsa-miR-2467-5p	CLIP-seq
MIRT1016421	hsa-miR-3120-5p	CLIP-seq
MIRT1016422	hsa-miR-3149	CLIP-seq
MIRT1016423	hsa-miR-3150a-3p	CLIP-seq
MIRT1016424	hsa-miR-3156-3p	CLIP-seq
MIRT1016425	hsa-miR-3159	CLIP-seq
MIRT1016426	hsa-miR-3165	CLIP-seq
MIRT1016427	hsa-miR-3168	CLIP-seq
MIRT1016428	hsa-miR-3175	CLIP-seq
MIRT1016429	hsa-miR-3188	CLIP-seq
MIRT1016430	hsa-miR-3190	CLIP-seq
MIRT1016431	hsa-miR-3192	CLIP-seq
MIRT1016432	hsa-miR-326	CLIP-seq
MIRT1016433	hsa-miR-329	CLIP-seq
MIRT1016434	hsa-miR-330-5p	CLIP-seq
MIRT1016435	hsa-miR-3613-3p	CLIP-seq
MIRT1016436	hsa-miR-3618	CLIP-seq
MIRT1016437	hsa-miR-3622b-5p	CLIP-seq
MIRT1016438	hsa-miR-362-3p	CLIP-seq
MIRT1016439	hsa-miR-3647-3p	CLIP-seq
MIRT1016440	hsa-miR-3655	CLIP-seq
MIRT1016385	hsa-miR-3660	CLIP-seq
MIRT1016441	hsa-miR-3664-5p	CLIP-seq
MIRT1016442	hsa-miR-3670	CLIP-seq
MIRT1016443	hsa-miR-3672	CLIP-seq
MIRT1016444	hsa-miR-3686	CLIP-seq
MIRT1016445	hsa-miR-371-5p	CLIP-seq
MIRT1016446	hsa-miR-371b-5p	CLIP-seq
MIRT1016447	hsa-miR-377	CLIP-seq
MIRT1016448	hsa-miR-3919	CLIP-seq
MIRT1016449	hsa-miR-3925-5p	CLIP-seq
MIRT1016450	hsa-miR-3929	CLIP-seq
MIRT1016451	hsa-miR-3935	CLIP-seq
MIRT1016452	hsa-miR-3937	CLIP-seq
MIRT1016453	hsa-miR-3975	CLIP-seq
MIRT1016454	hsa-miR-425	CLIP-seq
MIRT1016455	hsa-miR-4260	CLIP-seq
MIRT1016456	hsa-miR-4262	CLIP-seq
MIRT1016457	hsa-miR-4282	CLIP-seq
MIRT1016458	hsa-miR-4314	CLIP-seq
MIRT1016459	hsa-miR-4328	CLIP-seq
MIRT1016460	hsa-miR-433	CLIP-seq
MIRT1016461	hsa-miR-4419b	CLIP-seq
MIRT1016462	hsa-miR-4459	CLIP-seq
MIRT1016463	hsa-miR-4478	CLIP-seq
MIRT1016464	hsa-miR-4483	CLIP-seq
MIRT1016465	hsa-miR-450b-5p	CLIP-seq
MIRT1016466	hsa-miR-4522	CLIP-seq
MIRT1016389	hsa-miR-4526	CLIP-seq
MIRT1016467	hsa-miR-4645-5p	CLIP-seq
MIRT1016468	hsa-miR-4646-5p	CLIP-seq
MIRT1016469	hsa-miR-4648	CLIP-seq
MIRT1016470	hsa-miR-4654	CLIP-seq
MIRT1016471	hsa-miR-4662a-5p	CLIP-seq
MIRT1016472	hsa-miR-4666-3p	CLIP-seq
MIRT1016473	hsa-miR-4673	CLIP-seq
MIRT1016474	hsa-miR-4676-5p	CLIP-seq
MIRT1016475	hsa-miR-4693-5p	CLIP-seq
MIRT1016476	hsa-miR-4695-5p	CLIP-seq
MIRT1016477	hsa-miR-4698	CLIP-seq
MIRT1016478	hsa-miR-4703-3p	CLIP-seq
MIRT1016479	hsa-miR-4712-5p	CLIP-seq
MIRT1016480	hsa-miR-4713-5p	CLIP-seq
MIRT1016481	hsa-miR-4724-3p	CLIP-seq
MIRT1016482	hsa-miR-4742-3p	CLIP-seq
MIRT1016483	hsa-miR-4752	CLIP-seq
MIRT1016484	hsa-miR-4755-3p	CLIP-seq
MIRT1016485	hsa-miR-4769-5p	CLIP-seq
MIRT1016486	hsa-miR-4778-5p	CLIP-seq
MIRT1016487	hsa-miR-485-5p	CLIP-seq
MIRT1016488	hsa-miR-495	CLIP-seq
MIRT1016489	hsa-miR-496	CLIP-seq
MIRT1016490	hsa-miR-518a-5p	CLIP-seq
MIRT1016491	hsa-miR-527	CLIP-seq
MIRT1016492	hsa-miR-532-3p	CLIP-seq
MIRT1016493	hsa-miR-575	CLIP-seq
MIRT1016494	hsa-miR-579	CLIP-seq
MIRT1016495	hsa-miR-593	CLIP-seq
MIRT1016496	hsa-miR-605	CLIP-seq
MIRT1016497	hsa-miR-628-5p	CLIP-seq
MIRT1016498	hsa-miR-636	CLIP-seq
MIRT1016499	hsa-miR-642a	CLIP-seq
MIRT1016500	hsa-miR-642b	CLIP-seq
MIRT1016501	hsa-miR-649	CLIP-seq
MIRT1016502	hsa-miR-654-3p	CLIP-seq
MIRT1016503	hsa-miR-664	CLIP-seq
MIRT1016504	hsa-miR-7	CLIP-seq
MIRT1016505	hsa-miR-770-5p	CLIP-seq
MIRT1016506	hsa-miR-877	CLIP-seq
MIRT1016507	hsa-miR-889	CLIP-seq
MIRT1016508	hsa-miR-934	CLIP-seq
MIRT1016509	hsa-miR-939	CLIP-seq
MIRT2000874	hsa-miR-103b	CLIP-seq
MIRT1016375	hsa-miR-1200	CLIP-seq
MIRT2000875	hsa-miR-1207-3p	CLIP-seq
MIRT1016400	hsa-miR-1228	CLIP-seq
MIRT2000876	hsa-miR-140-3p	CLIP-seq
MIRT2000877	hsa-miR-1915	CLIP-seq
MIRT1016417	hsa-miR-2110	CLIP-seq
MIRT2000878	hsa-miR-3144-5p	CLIP-seq
MIRT1016423	hsa-miR-3150a-3p	CLIP-seq
MIRT2000879	hsa-miR-3157-5p	CLIP-seq
MIRT2000880	hsa-miR-3191	CLIP-seq
MIRT1016431	hsa-miR-3192	CLIP-seq
MIRT1016432	hsa-miR-326	CLIP-seq
MIRT1016434	hsa-miR-330-5p	CLIP-seq
MIRT2000881	hsa-miR-3651	CLIP-seq
MIRT1016448	hsa-miR-3919	CLIP-seq
MIRT1016449	hsa-miR-3925-5p	CLIP-seq
MIRT1016451	hsa-miR-3935	CLIP-seq
MIRT1016455	hsa-miR-4260	CLIP-seq
MIRT1016457	hsa-miR-4282	CLIP-seq
MIRT1016458	hsa-miR-4314	CLIP-seq
MIRT2000882	hsa-miR-4324	CLIP-seq
MIRT1016459	hsa-miR-4328	CLIP-seq
MIRT2000883	hsa-miR-4506	CLIP-seq
MIRT2000884	hsa-miR-4643	CLIP-seq
MIRT1016468	hsa-miR-4646-5p	CLIP-seq
MIRT2000885	hsa-miR-4652-5p	CLIP-seq
MIRT2000886	hsa-miR-4691-3p	CLIP-seq
MIRT1016478	hsa-miR-4703-3p	CLIP-seq
MIRT2000887	hsa-miR-544b	CLIP-seq
MIRT1016500	hsa-miR-642b	CLIP-seq
MIRT1016501	hsa-miR-649	CLIP-seq
MIRT2000888	hsa-miR-885-5p	CLIP-seq
MIRT1016441	hsa-miR-3664-5p	CLIP-seq
MIRT1016504	hsa-miR-7	CLIP-seq
MIRT1016375	hsa-miR-1200	CLIP-seq
MIRT1016400	hsa-miR-1228	CLIP-seq
MIRT2234297	hsa-miR-1299	CLIP-seq
MIRT1016431	hsa-miR-3192	CLIP-seq
MIRT2234298	hsa-miR-320e	CLIP-seq
MIRT1016432	hsa-miR-326	CLIP-seq
MIRT1016434	hsa-miR-330-5p	CLIP-seq
MIRT1016385	hsa-miR-3660	CLIP-seq
MIRT1016442	hsa-miR-3670	CLIP-seq
MIRT1016452	hsa-miR-3937	CLIP-seq
MIRT1016458	hsa-miR-4314	CLIP-seq
MIRT1016462	hsa-miR-4459	CLIP-seq
MIRT1016389	hsa-miR-4526	CLIP-seq
MIRT1016468	hsa-miR-4646-5p	CLIP-seq
MIRT1016472	hsa-miR-4666-3p	CLIP-seq
MIRT1016476	hsa-miR-4695-5p	CLIP-seq
MIRT2234299	hsa-miR-4782-5p	CLIP-seq
MIRT2234300	hsa-miR-516b	CLIP-seq
MIRT2234301	hsa-miR-526b	CLIP-seq
MIRT2234302	hsa-miR-578	CLIP-seq
MIRT2234303	hsa-miR-875-3p	CLIP-seq
MIRT1016375	hsa-miR-1200	CLIP-seq
MIRT1016376	hsa-miR-125a-3p	CLIP-seq
MIRT1016400	hsa-miR-1228	CLIP-seq
MIRT1016410	hsa-miR-181a	CLIP-seq
MIRT1016411	hsa-miR-181b	CLIP-seq
MIRT1016412	hsa-miR-181c	CLIP-seq
MIRT1016413	hsa-miR-181d	CLIP-seq
MIRT2538366	hsa-miR-3074-3p	CLIP-seq
MIRT1016421	hsa-miR-3120-5p	CLIP-seq
MIRT2538367	hsa-miR-3189-5p	CLIP-seq
MIRT1016431	hsa-miR-3192	CLIP-seq
MIRT1016432	hsa-miR-326	CLIP-seq
MIRT1016434	hsa-miR-330-5p	CLIP-seq
MIRT2538368	hsa-miR-331-5p	CLIP-seq
MIRT2538369	hsa-miR-338-3p	CLIP-seq
MIRT1016435	hsa-miR-3613-3p	CLIP-seq
MIRT1016441	hsa-miR-3664-5p	CLIP-seq
MIRT1016442	hsa-miR-3670	CLIP-seq
MIRT1016443	hsa-miR-3672	CLIP-seq
MIRT2538370	hsa-miR-3685	CLIP-seq
MIRT1016445	hsa-miR-371-5p	CLIP-seq
MIRT1016446	hsa-miR-371b-5p	CLIP-seq
MIRT1016452	hsa-miR-3937	CLIP-seq
MIRT1016456	hsa-miR-4262	CLIP-seq
MIRT2538371	hsa-miR-4269	CLIP-seq
MIRT1016458	hsa-miR-4314	CLIP-seq
MIRT1016462	hsa-miR-4459	CLIP-seq
MIRT2538372	hsa-miR-4514	CLIP-seq
MIRT1016466	hsa-miR-4522	CLIP-seq
MIRT2538373	hsa-miR-4633-5p	CLIP-seq
MIRT1016468	hsa-miR-4646-5p	CLIP-seq
MIRT2538374	hsa-miR-4692	CLIP-seq
MIRT1016476	hsa-miR-4695-5p	CLIP-seq
MIRT2538375	hsa-miR-4742-5p	CLIP-seq
MIRT2538376	hsa-miR-4758-3p	CLIP-seq
MIRT2538377	hsa-miR-4760-5p	CLIP-seq
MIRT1016488	hsa-miR-495	CLIP-seq
MIRT2538378	hsa-miR-532-5p	CLIP-seq
MIRT2538379	hsa-miR-634	CLIP-seq
MIRT2538380	hsa-miR-656	CLIP-seq
MIRT1016400	hsa-miR-1228	CLIP-seq
MIRT1016410	hsa-miR-181a	CLIP-seq
MIRT1016411	hsa-miR-181b	CLIP-seq
MIRT1016412	hsa-miR-181c	CLIP-seq
MIRT1016413	hsa-miR-181d	CLIP-seq
MIRT1016421	hsa-miR-3120-5p	CLIP-seq
MIRT2538367	hsa-miR-3189-5p	CLIP-seq
MIRT1016431	hsa-miR-3192	CLIP-seq
MIRT1016432	hsa-miR-326	CLIP-seq
MIRT1016434	hsa-miR-330-5p	CLIP-seq
MIRT2538368	hsa-miR-331-5p	CLIP-seq
MIRT2538369	hsa-miR-338-3p	CLIP-seq
MIRT1016435	hsa-miR-3613-3p	CLIP-seq
MIRT1016441	hsa-miR-3664-5p	CLIP-seq
MIRT1016442	hsa-miR-3670	CLIP-seq
MIRT1016443	hsa-miR-3672	CLIP-seq
MIRT2538370	hsa-miR-3685	CLIP-seq
MIRT1016445	hsa-miR-371-5p	CLIP-seq
MIRT1016446	hsa-miR-371b-5p	CLIP-seq
MIRT1016452	hsa-miR-3937	CLIP-seq
MIRT1016456	hsa-miR-4262	CLIP-seq
MIRT1016458	hsa-miR-4314	CLIP-seq
MIRT1016462	hsa-miR-4459	CLIP-seq
MIRT1016466	hsa-miR-4522	CLIP-seq
MIRT2538373	hsa-miR-4633-5p	CLIP-seq
MIRT1016468	hsa-miR-4646-5p	CLIP-seq
MIRT1016476	hsa-miR-4695-5p	CLIP-seq
MIRT2538376	hsa-miR-4758-3p	CLIP-seq
MIRT1016488	hsa-miR-495	CLIP-seq
MIRT2538378	hsa-miR-532-5p	CLIP-seq
MIRT2681507	hsa-miR-548c-3p	CLIP-seq
MIRT1016496	hsa-miR-605	CLIP-seq
MIRT2538379	hsa-miR-634	CLIP-seq
MIRT2538380	hsa-miR-656	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	26682650
GO:0000400	Function	Four-way junction DNA binding	IBA
GO:0000400	Function	Four-way junction DNA binding	IDA	26578604, 26682650, 28049850
GO:0000400	Function	Four-way junction DNA binding	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	23166748
GO:0003677	Function	DNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005813	Component	Centrosome	IDA	23166748
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IDA	26578604, 26682650, 28049850
GO:0008821	Function	Crossover junction DNA endonuclease activity	IEA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IMP	23108668
GO:0010824	Process	Regulation of centrosome duplication	IMP	23108668, 23166748
GO:0016787	Function	Hydrolase activity	IEA
GO:0017108	Function	5'-flap endonuclease activity	IBA
GO:0017108	Function	5'-flap endonuclease activity	IDA	26578604
GO:0017108	Function	5'-flap endonuclease activity	IEA
GO:0031297	Process	Replication fork processing	IDA	26578604
GO:0042803	Function	Protein homodimerization activity	IDA	26578604
GO:0046872	Function	Metal ion binding	IEA
GO:0071139	Process	Resolution of DNA recombination intermediates	IMP	24080495
GO:0071140	Process	Resolution of mitotic recombination intermediates	IMP	23108668
GO:0090267	Process	Positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP	23108668

Other IDs

• MIM: 612449
• HGNC: 26881
• e!Ensembl: ENSG00000178295

Protein

• UniProt ID: Q17RS7
• Protein name: Flap endonuclease GEN homolog 1 (EC 3.1.-.-)
• Protein function: Endonuclease which resolves Holliday junctions (HJs) by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated. Four-way DNA intermediates, also known
• PDB: 5T9J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00752	XPG_N	1 → 96	XPG N-terminal domain	Family
  PF00867	XPG_I	122 → 208	XPG I-region	Family
  PF18704	Chromo_2	398 → 458	Chromatin organization modifier domain 2	Domain

• Sequence:

  MGVNDLWQILEPVKQHIPLRNLGGKTIAVDLSLWVCEAQTVKKMMGSVMKPHLRNLFFRI
  SYLTQMDVKLVFVMEGEPPKLKADVISKRNQSRYGSSGKSWSQKTGRSHFKSVLRECLHM
  LECLGIPWVQAAGEAEAMCAYLNAGGHVDGCLTNDGDTFLYGAQTVYRNFTMNTKDPHVD
  CYTMSSIKSKLGLDRDALVGLAILLGCDYLPKGVPGVGKEQALKLIQILKGQSLLQRFNR
  WNETSCNSSPQLLVTKKLAHCSVCSHPGSPKDHERNGCRLCKSDKYCEPHDYEYCCPCEW
  HRTEHDRQLSEVENNIKKKACCCEGFPFHEVIQEFLLNKDKLVKVIRYQRPDLLLFQRFT
  LEKMEWPNHYACEKLLVLLTHYDMIERKLGSRNSNQLQPIRIVKTRIRNGVHCFEIEWEK
  PEHYAMEDKQHGEFALLTIEEESLFEAAYPEIVAVYQKQKLEIKGKKQKRIKPKENNLPE
  PDEVMSFQSHMTLKPTCEIFHKQNSKLNSGISPDPTLPQESISASLNSLLLPKNTPCLNA
  QEQFMSSLRPLAIQQIKAVSKSLISESSQPNTSSHNISVIADLHLSTIDWEGTSFSNSPA
  IQRNTFSHDLKSEVESELSAIPDGFENIPEQLSCESERYTANIKKVLDEDSDGISPEEHL
  LSGITDLCLQDLPLKERIFTKLSYPQDNLQPDVNLKTLSILSVKESCIANSGSDCTSHLS
  KDLPGIPLQNESRDSKILKGDQLLQEDYKVNTSVPYSVSNTVVKTCNVRPPNTALDHSRK
  VDMQTTRKILMKKSVCLDRHSSDEQSAPVFGKAKYTTQRMKHSSQKHNSSHFKESGHNKL
  SSPKIHIKETEQCVRSYETAENEESCFPDSTKSSLSSLQCHKKENNSGTCLDSPLPLRQR
  LKLRFQST

• Sequence length: 908

Pathways

Reactome:

Resolution of D-loop Structures through Holliday Junction Intermediates

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast neoplasm	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GEN1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GEN1-related prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Olaparib response	Uncertain significance; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26910375		★☆☆☆☆ Found in Text Mining only
bilateral breast cancer	Breast Cancer	BEFREE	23104382		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	31334106		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	21399624, 23108668, 23166748, 24076221, 24980922, 27284361		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20512659, 21913181		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26201965, 40649769	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	29483821, 30632787		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30325199		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30622336		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26910375		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	29483821		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	29483821		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	38013616	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30622336		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20512659, 21913181		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30325199		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10417059		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21913181, 28090586, 28802766		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1	Mental retardation	BEFREE	28934497		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	30604336		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	30604336		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30325199, 31334106		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30599903		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30325199		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10417059		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37733366	Associate	★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	29483821		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30604336		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	29483821		★☆☆☆☆ Found in Text Mining only