RNASEH1 (ribonuclease H1)

Gene

• Entrez ID: 246243
• Gene name: Ribonuclease H1
• Gene symbol: RNASEH1
• Synonyms (NCBI Gene): H1RNA, PEOB2, RNH1
• Chromosome: 2
• Chromosome location: 2p25.3
• Summary: This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs373442996	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs766294940	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057517675	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1229409884	->C	Likely-pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029640	hsa-miR-26b-5p	Microarray	19088304
MIRT045143	hsa-miR-186-5p	CLASH	23622248
MIRT043509	hsa-miR-331-3p	CLASH	23622248
MIRT042080	hsa-miR-484	CLASH	23622248
MIRT534639	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT534638	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT534637	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT534636	hsa-miR-3609	PAR-CLIP	21572407
MIRT534635	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT534634	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT534633	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT534632	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT534631	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT534630	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT534629	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT534628	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT534627	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT534626	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT534625	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT534624	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT534623	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT534622	hsa-miR-302e	PAR-CLIP	21572407
MIRT534621	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT534620	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT534619	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT534618	hsa-miR-520b	PAR-CLIP	21572407
MIRT534617	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT534616	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT534615	hsa-miR-520e	PAR-CLIP	21572407
MIRT534614	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT534613	hsa-miR-193a-3p	PAR-CLIP	21572407
MIRT534612	hsa-miR-193b-3p	PAR-CLIP	21572407
MIRT534611	hsa-miR-892b	PAR-CLIP	21572407
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT534609	hsa-miR-520f-3p	PAR-CLIP	21572407
MIRT534608	hsa-miR-4722-3p	PAR-CLIP	21572407
MIRT534607	hsa-miR-6727-3p	PAR-CLIP	21572407
MIRT534606	hsa-miR-6747-3p	PAR-CLIP	21572407
MIRT554665	hsa-miR-6868-5p	PAR-CLIP	21572407
MIRT534605	hsa-miR-4480	PAR-CLIP	21572407
MIRT534639	hsa-miR-5590-3p	PAR-CLIP	22012620
MIRT534638	hsa-miR-142-5p	PAR-CLIP	22012620
MIRT534637	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT534636	hsa-miR-3609	PAR-CLIP	22012620
MIRT534635	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT534634	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT534633	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT534632	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT534631	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT534630	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT534629	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT534628	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT534627	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT534626	hsa-miR-4796-3p	PAR-CLIP	22012620
MIRT534625	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT534624	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT534623	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT534622	hsa-miR-302e	PAR-CLIP	22012620
MIRT534621	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT534620	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT534619	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT534618	hsa-miR-520b	PAR-CLIP	22012620
MIRT534617	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT534616	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT534615	hsa-miR-520e	PAR-CLIP	22012620
MIRT534614	hsa-miR-580-5p	PAR-CLIP	22012620
MIRT534613	hsa-miR-193a-3p	PAR-CLIP	22012620
MIRT534612	hsa-miR-193b-3p	PAR-CLIP	22012620
MIRT534611	hsa-miR-892b	PAR-CLIP	22012620
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT534609	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT534608	hsa-miR-4722-3p	PAR-CLIP	22012620
MIRT534607	hsa-miR-6727-3p	PAR-CLIP	22012620
MIRT534606	hsa-miR-6747-3p	PAR-CLIP	22012620
MIRT534605	hsa-miR-4480	PAR-CLIP	22012620
MIRT534639	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT534638	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT534637	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT534636	hsa-miR-3609	PAR-CLIP	21572407
MIRT534635	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT534634	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT534633	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT534632	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT534631	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT534630	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT534629	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT534628	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT534627	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT534626	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT534625	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT534624	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT534623	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT534622	hsa-miR-302e	PAR-CLIP	21572407
MIRT534621	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT534620	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT534619	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT534618	hsa-miR-520b	PAR-CLIP	21572407
MIRT534617	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT534616	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT534615	hsa-miR-520e	PAR-CLIP	21572407
MIRT534614	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT534613	hsa-miR-193a-3p	PAR-CLIP	21572407
MIRT534612	hsa-miR-193b-3p	PAR-CLIP	21572407
MIRT534611	hsa-miR-892b	PAR-CLIP	21572407
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT534609	hsa-miR-520f-3p	PAR-CLIP	21572407
MIRT534608	hsa-miR-4722-3p	PAR-CLIP	21572407
MIRT534607	hsa-miR-6727-3p	PAR-CLIP	21572407
MIRT534606	hsa-miR-6747-3p	PAR-CLIP	21572407
MIRT554665	hsa-miR-6868-5p	PAR-CLIP	21572407
MIRT534605	hsa-miR-4480	PAR-CLIP	21572407
MIRT534639	hsa-miR-5590-3p	PAR-CLIP	22012620
MIRT534638	hsa-miR-142-5p	PAR-CLIP	22012620
MIRT534637	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT534636	hsa-miR-3609	PAR-CLIP	22012620
MIRT534635	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT534634	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT534633	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT534632	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT534631	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT534630	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT534629	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT534628	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT534627	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT534626	hsa-miR-4796-3p	PAR-CLIP	22012620
MIRT534625	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT534624	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT534623	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT534622	hsa-miR-302e	PAR-CLIP	22012620
MIRT534621	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT534620	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT534619	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT534618	hsa-miR-520b	PAR-CLIP	22012620
MIRT534617	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT534616	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT534615	hsa-miR-520e	PAR-CLIP	22012620
MIRT534614	hsa-miR-580-5p	PAR-CLIP	22012620
MIRT534613	hsa-miR-193a-3p	PAR-CLIP	22012620
MIRT534612	hsa-miR-193b-3p	PAR-CLIP	22012620
MIRT534611	hsa-miR-892b	PAR-CLIP	22012620
MIRT534610	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT534609	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT534608	hsa-miR-4722-3p	PAR-CLIP	22012620
MIRT534607	hsa-miR-6727-3p	PAR-CLIP	22012620
MIRT534606	hsa-miR-6747-3p	PAR-CLIP	22012620
MIRT534605	hsa-miR-4480	PAR-CLIP	22012620
MIRT1308665	hsa-miR-149	CLIP-seq
MIRT1308666	hsa-miR-150	CLIP-seq
MIRT1308667	hsa-miR-15a	CLIP-seq
MIRT1308668	hsa-miR-15b	CLIP-seq
MIRT1308669	hsa-miR-16	CLIP-seq
MIRT1308670	hsa-miR-195	CLIP-seq
MIRT1308671	hsa-miR-216a	CLIP-seq
MIRT1308672	hsa-miR-24	CLIP-seq
MIRT1308673	hsa-miR-300	CLIP-seq
MIRT1308674	hsa-miR-3123	CLIP-seq
MIRT1308675	hsa-miR-3190	CLIP-seq
MIRT1308676	hsa-miR-340	CLIP-seq
MIRT1308677	hsa-miR-342-3p	CLIP-seq
MIRT1308678	hsa-miR-371-5p	CLIP-seq
MIRT1308679	hsa-miR-371b-5p	CLIP-seq
MIRT1308680	hsa-miR-381	CLIP-seq
MIRT1308681	hsa-miR-384	CLIP-seq
MIRT1308682	hsa-miR-3925-5p	CLIP-seq
MIRT1308683	hsa-miR-424	CLIP-seq
MIRT1308684	hsa-miR-4284	CLIP-seq
MIRT1308685	hsa-miR-4326	CLIP-seq
MIRT1308686	hsa-miR-4438	CLIP-seq
MIRT1308687	hsa-miR-4491	CLIP-seq
MIRT1308688	hsa-miR-4493	CLIP-seq
MIRT1308689	hsa-miR-4514	CLIP-seq
MIRT1308690	hsa-miR-451b	CLIP-seq
MIRT1308691	hsa-miR-4524	CLIP-seq
MIRT1308692	hsa-miR-4643	CLIP-seq
MIRT1308693	hsa-miR-4657	CLIP-seq
MIRT1308694	hsa-miR-4666-3p	CLIP-seq
MIRT1308695	hsa-miR-4692	CLIP-seq
MIRT1308696	hsa-miR-4696	CLIP-seq
MIRT1308697	hsa-miR-4713-5p	CLIP-seq
MIRT1308698	hsa-miR-4717-5p	CLIP-seq
MIRT1308699	hsa-miR-4722-5p	CLIP-seq
MIRT1308700	hsa-miR-4753-5p	CLIP-seq
MIRT1308701	hsa-miR-4768-3p	CLIP-seq
MIRT1308702	hsa-miR-4785	CLIP-seq
MIRT1308703	hsa-miR-4795-3p	CLIP-seq
MIRT1308704	hsa-miR-497	CLIP-seq
MIRT1308705	hsa-miR-503	CLIP-seq
MIRT1308706	hsa-miR-5095	CLIP-seq
MIRT1308707	hsa-miR-515-5p	CLIP-seq
MIRT1308708	hsa-miR-532-3p	CLIP-seq
MIRT1308709	hsa-miR-646	CLIP-seq
MIRT1308710	hsa-miR-649	CLIP-seq
MIRT1308711	hsa-miR-888	CLIP-seq
MIRT1308665	hsa-miR-149	CLIP-seq
MIRT1308666	hsa-miR-150	CLIP-seq
MIRT1308671	hsa-miR-216a	CLIP-seq
MIRT2091591	hsa-miR-224	CLIP-seq
MIRT1308672	hsa-miR-24	CLIP-seq
MIRT1308684	hsa-miR-4284	CLIP-seq
MIRT1308697	hsa-miR-4713-5p	CLIP-seq
MIRT1308708	hsa-miR-532-3p	CLIP-seq
MIRT2091591	hsa-miR-224	CLIP-seq
MIRT2316173	hsa-miR-3157-3p	CLIP-seq
MIRT1308676	hsa-miR-340	CLIP-seq
MIRT2316174	hsa-miR-3675-5p	CLIP-seq
MIRT2316175	hsa-miR-4252	CLIP-seq
MIRT2316176	hsa-miR-4269	CLIP-seq
MIRT2316177	hsa-miR-4283	CLIP-seq
MIRT1308685	hsa-miR-4326	CLIP-seq
MIRT2316178	hsa-miR-4329	CLIP-seq
MIRT1308686	hsa-miR-4438	CLIP-seq
MIRT2316179	hsa-miR-4489	CLIP-seq
MIRT1308688	hsa-miR-4493	CLIP-seq
MIRT1308689	hsa-miR-4514	CLIP-seq
MIRT1308690	hsa-miR-451b	CLIP-seq
MIRT1308692	hsa-miR-4643	CLIP-seq
MIRT2316180	hsa-miR-4656	CLIP-seq
MIRT2316181	hsa-miR-4690-5p	CLIP-seq
MIRT1308695	hsa-miR-4692	CLIP-seq
MIRT1308696	hsa-miR-4696	CLIP-seq
MIRT2316182	hsa-miR-4717-3p	CLIP-seq
MIRT1308698	hsa-miR-4717-5p	CLIP-seq
MIRT1308700	hsa-miR-4753-5p	CLIP-seq
MIRT2316183	hsa-miR-4786-5p	CLIP-seq
MIRT1308706	hsa-miR-5095	CLIP-seq
MIRT2316184	hsa-miR-769-5p	CLIP-seq
MIRT2316185	hsa-miR-874	CLIP-seq
MIRT2612240	hsa-miR-103a	CLIP-seq
MIRT2612241	hsa-miR-107	CLIP-seq
MIRT2612242	hsa-miR-1284	CLIP-seq
MIRT2612243	hsa-miR-1285	CLIP-seq
MIRT2612244	hsa-miR-1291	CLIP-seq
MIRT2612245	hsa-miR-1295	CLIP-seq
MIRT2612246	hsa-miR-129-5p	CLIP-seq
MIRT2612247	hsa-miR-184	CLIP-seq
MIRT2612248	hsa-miR-219-1-3p	CLIP-seq
MIRT2091591	hsa-miR-224	CLIP-seq
MIRT2612249	hsa-miR-3160-3p	CLIP-seq
MIRT2612250	hsa-miR-3160-5p	CLIP-seq
MIRT2612251	hsa-miR-3180-5p	CLIP-seq
MIRT2612252	hsa-miR-3187-5p	CLIP-seq
MIRT2612253	hsa-miR-3654	CLIP-seq
MIRT2612254	hsa-miR-3942-3p	CLIP-seq
MIRT2612255	hsa-miR-4292	CLIP-seq
MIRT2612256	hsa-miR-4303	CLIP-seq
MIRT2612257	hsa-miR-4310	CLIP-seq
MIRT1308685	hsa-miR-4326	CLIP-seq
MIRT2612258	hsa-miR-4487	CLIP-seq
MIRT2612259	hsa-miR-4682	CLIP-seq
MIRT2612260	hsa-miR-4694-3p	CLIP-seq
MIRT2612261	hsa-miR-4698	CLIP-seq
MIRT1308698	hsa-miR-4717-5p	CLIP-seq
MIRT2316183	hsa-miR-4786-5p	CLIP-seq
MIRT2612262	hsa-miR-4793-5p	CLIP-seq
MIRT2612263	hsa-miR-4804-5p	CLIP-seq
MIRT2612264	hsa-miR-499a-5p	CLIP-seq
MIRT2612265	hsa-miR-505	CLIP-seq
MIRT2612266	hsa-miR-520a-5p	CLIP-seq
MIRT2612267	hsa-miR-522	CLIP-seq
MIRT2612268	hsa-miR-525-5p	CLIP-seq
MIRT2612269	hsa-miR-558	CLIP-seq
MIRT2612270	hsa-miR-571	CLIP-seq
MIRT2612271	hsa-miR-612	CLIP-seq
MIRT1308710	hsa-miR-649	CLIP-seq
MIRT2612272	hsa-miR-660	CLIP-seq
MIRT2316184	hsa-miR-769-5p	CLIP-seq
MIRT2612240	hsa-miR-103a	CLIP-seq
MIRT2612241	hsa-miR-107	CLIP-seq
MIRT2612243	hsa-miR-1285	CLIP-seq
MIRT2612244	hsa-miR-1291	CLIP-seq
MIRT2612246	hsa-miR-129-5p	CLIP-seq
MIRT2612247	hsa-miR-184	CLIP-seq
MIRT2612248	hsa-miR-219-1-3p	CLIP-seq
MIRT2091591	hsa-miR-224	CLIP-seq
MIRT2612249	hsa-miR-3160-3p	CLIP-seq
MIRT2612250	hsa-miR-3160-5p	CLIP-seq
MIRT2612251	hsa-miR-3180-5p	CLIP-seq
MIRT2612252	hsa-miR-3187-5p	CLIP-seq
MIRT2612253	hsa-miR-3654	CLIP-seq
MIRT2612254	hsa-miR-3942-3p	CLIP-seq
MIRT2612255	hsa-miR-4292	CLIP-seq
MIRT2612256	hsa-miR-4303	CLIP-seq
MIRT1308685	hsa-miR-4326	CLIP-seq
MIRT2612258	hsa-miR-4487	CLIP-seq
MIRT2612259	hsa-miR-4682	CLIP-seq
MIRT2612260	hsa-miR-4694-3p	CLIP-seq
MIRT2612261	hsa-miR-4698	CLIP-seq
MIRT2316183	hsa-miR-4786-5p	CLIP-seq
MIRT2612262	hsa-miR-4793-5p	CLIP-seq
MIRT2612263	hsa-miR-4804-5p	CLIP-seq
MIRT2612264	hsa-miR-499a-5p	CLIP-seq
MIRT2612265	hsa-miR-505	CLIP-seq
MIRT2612266	hsa-miR-520a-5p	CLIP-seq
MIRT2612267	hsa-miR-522	CLIP-seq
MIRT2612268	hsa-miR-525-5p	CLIP-seq
MIRT2612269	hsa-miR-558	CLIP-seq
MIRT2612270	hsa-miR-571	CLIP-seq
MIRT2612271	hsa-miR-612	CLIP-seq
MIRT1308710	hsa-miR-649	CLIP-seq
MIRT2612272	hsa-miR-660	CLIP-seq
MIRT2316184	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003676	Function	Nucleic acid binding	TAS	9799596
GO:0003723	Function	RNA binding	TAS	9799596
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	IBA
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	IDA	21700224
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	IEA
GO:0004540	Function	RNA nuclease activity	TAS	9799596
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006401	Process	RNA catabolic process	TAS	9799596
GO:0016787	Function	Hydrolase activity	IEA
GO:0043137	Process	DNA replication, removal of RNA primer	IBA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 604123
• HGNC: 18466
• e!Ensembl: ENSG00000171865

Protein

• UniProt ID: O60930
• Protein name: Ribonuclease H1 (RNase H1) (EC 3.1.26.4) (Ribonuclease H type II)
• Protein function: Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of
• PDB: 2QK9, 2QKB, 2QKK, 3BSU, 6VRD, 8SWB, 8SWC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01693	Cauli_VI	27 → 70	Caulimovirus viroplasmin	Family
  PF00075	RNase_H	138 → 282	RNase H	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MSWLLFLAHRVALAALPCRRGSRGFGMFYAVRRGRKTGVFLTWNECRAQVDRFPAARFKK
  FATEDEAWAFVRKSASPEVSEGHENQHGQESEAKASKRLREPLDGDGHESAEPYAKHMKP
  SVEPAPPVSRDTFSYMGDFVVVYTDGCCSSNGRRRPRAGIGVYWGPGHPLNVGIRLPGRQ
  TNQRAEIHAACKAIEQAKTQNINKLVLYTDSMFTINGITNWVQGWKKNGWKTSAGKEVIN
  KEDFVALERLTQGMDIQWMHVPGHSGFIGNEEADRLAREGAKQSED

• Sequence length: 286

Pathways

KEGG:

DNA replication

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	Likely pathogenic; Pathogenic	rs766294940, rs373442996, rs1057517675	RCV000412621 RCV000412498 RCV000412557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNASEH1-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	16817948		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16817948		★☆☆☆☆ Found in Text Mining only
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	External Ophthalmoplegia With Mitochondrial Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	28318881		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26070935		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21125316, 23703635, 24768914, 30896869		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37191094	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12771034, 18289367, 18588689, 27720940		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16817948		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21125316, 23703635, 24768914, 30896869		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16054657, 16690207, 18289367		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	12117772, 12433725, 15885892		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30279231		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	15157303		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29057481		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	19367286		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28603911, 7680734		★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28844410		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16817948, 18289367, 25257839, 30896869		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30896869	Associate	★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	7694575		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	28575672		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30919930		★☆☆☆☆ Found in Text Mining only
Developmental Coordination Disorder	Developmental dyspraxia	BEFREE	28983797		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29204916		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29975575		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	28318881, 28510122, 28816536, 29144811, 29954369, 30015659, 30260898, 30584304, 30657361, 31626129		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30279231		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28336942, 30308992		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	31452116		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	7680734		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	28585680, 4632689		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	29975575, 31094068		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28407806		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	37378420	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37773887	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28844410		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12771034, 18289367, 18588689, 27720940		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16054657, 16690207, 18289367		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23584480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	15885892		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	20171085, 28008561, 28318881, 28585680		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21125316, 23703635, 24768914, 30896869		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18588689, 24768914, 25874497, 27849386, 28731148, 30282811		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	15885892		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	27207700, 28318881, 30383218		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15592448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	24769129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	30919930		★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia Schmid type	Metaphyseal chondrodysplasia	BEFREE	14569119		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29302874		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27402764, 31178343		★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	26094573		★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	26094573	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21046104		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15778086, 17032310, 21125316, 22790962, 24768914, 24769129, 28428267, 29978374, 30654714		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29057481		★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia Chronic Progressive External	Progressive external ophthalmoplegia	Pubtator	26094573	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30613366		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26285789, 28534687, 30396219		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28364501		★☆☆☆☆ Found in Text Mining only
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	UNIPROT_DG	26094573		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31298961		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right Atrial Isomerism	Atrial Isomerism	BEFREE	29057481		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19034380		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory ataxic neuropathy dysarthria and ophthalmoparesis	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Pubtator	33396418	Associate	★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	27683195		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23584480		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	30075294		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	30654714		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	30075294		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	20171085, 28008561, 28318881, 28585680, 30668525		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	20171085, 27207700, 28008561, 28585680		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	28817605		★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	28585680		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37537337	Associate	★☆☆☆☆ Found in Text Mining only