POLR1A (RNA polymerase I subunit A)

Gene

• Entrez ID: 25885
• Gene name: RNA polymerase I subunit A
• Gene symbol: POLR1A
• Synonyms (NCBI Gene): A190, AFDCIN, HLD27, RPA1, RPA190, RPA194, RPO1-4, RPO14
• Chromosome: 2
• Chromosome location: 2p11.2
• Summary: The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cinc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs370722814	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs794729674	C>G	Pathogenic	Coding sequence variant, missense variant
rs875989814	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794956	CCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1064795108	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1377622831	G>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032207	hsa-let-7b-5p	Proteomics	18668040
MIRT040172	hsa-miR-615-3p	CLASH	23622248
MIRT650105	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT650104	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT650103	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT650102	hsa-miR-8063	HITS-CLIP	23824327
MIRT650101	hsa-miR-4698	HITS-CLIP	23824327
MIRT650100	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT650099	hsa-miR-5581-3p	HITS-CLIP	23824327
MIRT650098	hsa-miR-587	HITS-CLIP	23824327
MIRT439934	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439934	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT650105	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT650104	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT650103	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT650102	hsa-miR-8063	HITS-CLIP	23824327
MIRT650101	hsa-miR-4698	HITS-CLIP	23824327
MIRT650100	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT650099	hsa-miR-5581-3p	HITS-CLIP	23824327
MIRT650098	hsa-miR-587	HITS-CLIP	23824327
MIRT1248173	hsa-miR-103a	CLIP-seq
MIRT1248174	hsa-miR-107	CLIP-seq
MIRT1248175	hsa-miR-1184	CLIP-seq
MIRT1248176	hsa-miR-1225-3p	CLIP-seq
MIRT1248177	hsa-miR-1245b-5p	CLIP-seq
MIRT1248178	hsa-miR-1254	CLIP-seq
MIRT1248179	hsa-miR-1255a	CLIP-seq
MIRT1248180	hsa-miR-1255b	CLIP-seq
MIRT1248181	hsa-miR-125a-3p	CLIP-seq
MIRT1248182	hsa-miR-1262	CLIP-seq
MIRT1248183	hsa-miR-1293	CLIP-seq
MIRT1248184	hsa-miR-1321	CLIP-seq
MIRT1248185	hsa-miR-1913	CLIP-seq
MIRT1248186	hsa-miR-1915	CLIP-seq
MIRT1248187	hsa-miR-1976	CLIP-seq
MIRT1248188	hsa-miR-214	CLIP-seq
MIRT1248189	hsa-miR-3064-3p	CLIP-seq
MIRT1248190	hsa-miR-3074-5p	CLIP-seq
MIRT1248191	hsa-miR-3116	CLIP-seq
MIRT1248192	hsa-miR-3135b	CLIP-seq
MIRT1248193	hsa-miR-3138	CLIP-seq
MIRT1248194	hsa-miR-3142	CLIP-seq
MIRT1248195	hsa-miR-3144-5p	CLIP-seq
MIRT1248196	hsa-miR-3146	CLIP-seq
MIRT1248197	hsa-miR-3155	CLIP-seq
MIRT1248198	hsa-miR-3155b	CLIP-seq
MIRT1248199	hsa-miR-3161	CLIP-seq
MIRT1248200	hsa-miR-3184	CLIP-seq
MIRT1248201	hsa-miR-3189-3p	CLIP-seq
MIRT1248202	hsa-miR-3191	CLIP-seq
MIRT1248203	hsa-miR-324-3p	CLIP-seq
MIRT1248204	hsa-miR-361-3p	CLIP-seq
MIRT1248205	hsa-miR-3619-5p	CLIP-seq
MIRT1248206	hsa-miR-3652	CLIP-seq
MIRT1248207	hsa-miR-3664-5p	CLIP-seq
MIRT1248208	hsa-miR-3689d	CLIP-seq
MIRT1248209	hsa-miR-370	CLIP-seq
MIRT1248210	hsa-miR-3943	CLIP-seq
MIRT1248211	hsa-miR-423-5p	CLIP-seq
MIRT1248212	hsa-miR-4270	CLIP-seq
MIRT1248213	hsa-miR-4313	CLIP-seq
MIRT1248214	hsa-miR-4316	CLIP-seq
MIRT1248215	hsa-miR-4430	CLIP-seq
MIRT1248216	hsa-miR-4441	CLIP-seq
MIRT1248217	hsa-miR-4483	CLIP-seq
MIRT1248218	hsa-miR-4492	CLIP-seq
MIRT1248219	hsa-miR-4498	CLIP-seq
MIRT1248220	hsa-miR-4522	CLIP-seq
MIRT1248221	hsa-miR-4533	CLIP-seq
MIRT1248222	hsa-miR-4650-5p	CLIP-seq
MIRT1248223	hsa-miR-4652-5p	CLIP-seq
MIRT1248224	hsa-miR-4688	CLIP-seq
MIRT1248225	hsa-miR-4690-5p	CLIP-seq
MIRT1248226	hsa-miR-4701-3p	CLIP-seq
MIRT1248227	hsa-miR-4710	CLIP-seq
MIRT1248228	hsa-miR-4714-5p	CLIP-seq
MIRT1248229	hsa-miR-4728-5p	CLIP-seq
MIRT1248230	hsa-miR-4739	CLIP-seq
MIRT1248231	hsa-miR-4752	CLIP-seq
MIRT1248232	hsa-miR-4756-5p	CLIP-seq
MIRT1248233	hsa-miR-4759	CLIP-seq
MIRT1248234	hsa-miR-4800-5p	CLIP-seq
MIRT1248235	hsa-miR-484	CLIP-seq
MIRT1248236	hsa-miR-516b	CLIP-seq
MIRT1248237	hsa-miR-520a-5p	CLIP-seq
MIRT1248238	hsa-miR-525-5p	CLIP-seq
MIRT1248239	hsa-miR-548c-3p	CLIP-seq
MIRT1248240	hsa-miR-550a	CLIP-seq
MIRT1248241	hsa-miR-552	CLIP-seq
MIRT1248242	hsa-miR-615-5p	CLIP-seq
MIRT1248243	hsa-miR-635	CLIP-seq
MIRT1248244	hsa-miR-661	CLIP-seq
MIRT1248245	hsa-miR-761	CLIP-seq
MIRT1248246	hsa-miR-762	CLIP-seq
MIRT1248247	hsa-miR-765	CLIP-seq
MIRT1248248	hsa-miR-767-3p	CLIP-seq
MIRT2073242	hsa-miR-1197	CLIP-seq
MIRT1248181	hsa-miR-125a-3p	CLIP-seq
MIRT2073243	hsa-miR-1264	CLIP-seq
MIRT2073244	hsa-miR-1266	CLIP-seq
MIRT2073245	hsa-miR-128	CLIP-seq
MIRT2073246	hsa-miR-1285	CLIP-seq
MIRT2073247	hsa-miR-135a	CLIP-seq
MIRT2073248	hsa-miR-135b	CLIP-seq
MIRT2073249	hsa-miR-145	CLIP-seq
MIRT2073250	hsa-miR-146b-3p	CLIP-seq
MIRT2073251	hsa-miR-1587	CLIP-seq
MIRT2073252	hsa-miR-1910	CLIP-seq
MIRT1248187	hsa-miR-1976	CLIP-seq
MIRT2073253	hsa-miR-3127-3p	CLIP-seq
MIRT1248192	hsa-miR-3135b	CLIP-seq
MIRT2073254	hsa-miR-3141	CLIP-seq
MIRT2073255	hsa-miR-3154	CLIP-seq
MIRT2073256	hsa-miR-3173-5p	CLIP-seq
MIRT2073257	hsa-miR-3183	CLIP-seq
MIRT2073258	hsa-miR-3185	CLIP-seq
MIRT2073259	hsa-miR-3187-5p	CLIP-seq
MIRT1248201	hsa-miR-3189-3p	CLIP-seq
MIRT2073260	hsa-miR-326	CLIP-seq
MIRT2073261	hsa-miR-330-5p	CLIP-seq
MIRT2073262	hsa-miR-3612	CLIP-seq
MIRT2073263	hsa-miR-3614-5p	CLIP-seq
MIRT1248206	hsa-miR-3652	CLIP-seq
MIRT2073264	hsa-miR-3667-3p	CLIP-seq
MIRT2073265	hsa-miR-378g	CLIP-seq
MIRT2073266	hsa-miR-3909	CLIP-seq
MIRT2073267	hsa-miR-4260	CLIP-seq
MIRT2073268	hsa-miR-4264	CLIP-seq
MIRT1248212	hsa-miR-4270	CLIP-seq
MIRT2073269	hsa-miR-4276	CLIP-seq
MIRT2073270	hsa-miR-4283	CLIP-seq
MIRT2073271	hsa-miR-4308	CLIP-seq
MIRT2073272	hsa-miR-4320	CLIP-seq
MIRT2073273	hsa-miR-4326	CLIP-seq
MIRT1248215	hsa-miR-4430	CLIP-seq
MIRT1248216	hsa-miR-4441	CLIP-seq
MIRT2073274	hsa-miR-4443	CLIP-seq
MIRT2073275	hsa-miR-4486	CLIP-seq
MIRT2073276	hsa-miR-4489	CLIP-seq
MIRT1248218	hsa-miR-4492	CLIP-seq
MIRT1248219	hsa-miR-4498	CLIP-seq
MIRT2073277	hsa-miR-4518	CLIP-seq
MIRT2073278	hsa-miR-4656	CLIP-seq
MIRT2073279	hsa-miR-4675	CLIP-seq
MIRT1248227	hsa-miR-4710	CLIP-seq
MIRT2073280	hsa-miR-4723-3p	CLIP-seq
MIRT2073281	hsa-miR-4741	CLIP-seq
MIRT2073282	hsa-miR-4797-3p	CLIP-seq
MIRT2073283	hsa-miR-510	CLIP-seq
MIRT2073284	hsa-miR-601	CLIP-seq
MIRT2073285	hsa-miR-612	CLIP-seq
MIRT2073286	hsa-miR-650	CLIP-seq
MIRT2073287	hsa-miR-668	CLIP-seq
MIRT1248246	hsa-miR-762	CLIP-seq
MIRT2073288	hsa-miR-874	CLIP-seq
MIRT2073289	hsa-miR-890	CLIP-seq
MIRT2073290	hsa-miR-942	CLIP-seq
MIRT1248173	hsa-miR-103a	CLIP-seq
MIRT1248174	hsa-miR-107	CLIP-seq
MIRT1248175	hsa-miR-1184	CLIP-seq
MIRT1248179	hsa-miR-1255a	CLIP-seq
MIRT1248180	hsa-miR-1255b	CLIP-seq
MIRT1248181	hsa-miR-125a-3p	CLIP-seq
MIRT1248184	hsa-miR-1321	CLIP-seq
MIRT2073249	hsa-miR-145	CLIP-seq
MIRT2073250	hsa-miR-146b-3p	CLIP-seq
MIRT2073252	hsa-miR-1910	CLIP-seq
MIRT1248187	hsa-miR-1976	CLIP-seq
MIRT2300380	hsa-miR-2277-3p	CLIP-seq
MIRT1248192	hsa-miR-3135b	CLIP-seq
MIRT2073256	hsa-miR-3173-5p	CLIP-seq
MIRT2073257	hsa-miR-3183	CLIP-seq
MIRT1248200	hsa-miR-3184	CLIP-seq
MIRT1248201	hsa-miR-3189-3p	CLIP-seq
MIRT2073262	hsa-miR-3612	CLIP-seq
MIRT2073263	hsa-miR-3614-5p	CLIP-seq
MIRT1248206	hsa-miR-3652	CLIP-seq
MIRT2073266	hsa-miR-3909	CLIP-seq
MIRT2300381	hsa-miR-3919	CLIP-seq
MIRT1248211	hsa-miR-423-5p	CLIP-seq
MIRT2073267	hsa-miR-4260	CLIP-seq
MIRT1248212	hsa-miR-4270	CLIP-seq
MIRT2073270	hsa-miR-4283	CLIP-seq
MIRT2073271	hsa-miR-4308	CLIP-seq
MIRT2073272	hsa-miR-4320	CLIP-seq
MIRT1248215	hsa-miR-4430	CLIP-seq
MIRT1248216	hsa-miR-4441	CLIP-seq
MIRT2073274	hsa-miR-4443	CLIP-seq
MIRT2073276	hsa-miR-4489	CLIP-seq
MIRT1248218	hsa-miR-4492	CLIP-seq
MIRT1248219	hsa-miR-4498	CLIP-seq
MIRT2300382	hsa-miR-4645-5p	CLIP-seq
MIRT2073278	hsa-miR-4656	CLIP-seq
MIRT2300383	hsa-miR-4673	CLIP-seq
MIRT1248224	hsa-miR-4688	CLIP-seq
MIRT2073280	hsa-miR-4723-3p	CLIP-seq
MIRT1248229	hsa-miR-4728-5p	CLIP-seq
MIRT1248230	hsa-miR-4739	CLIP-seq
MIRT2300384	hsa-miR-4742-5p	CLIP-seq
MIRT2300385	hsa-miR-4755-3p	CLIP-seq
MIRT1248232	hsa-miR-4756-5p	CLIP-seq
MIRT1248237	hsa-miR-520a-5p	CLIP-seq
MIRT1248238	hsa-miR-525-5p	CLIP-seq
MIRT1248239	hsa-miR-548c-3p	CLIP-seq
MIRT1248241	hsa-miR-552	CLIP-seq
MIRT2300386	hsa-miR-649	CLIP-seq
MIRT2073286	hsa-miR-650	CLIP-seq
MIRT2073287	hsa-miR-668	CLIP-seq
MIRT1248246	hsa-miR-762	CLIP-seq
MIRT2073288	hsa-miR-874	CLIP-seq
MIRT2073289	hsa-miR-890	CLIP-seq
MIRT2300387	hsa-miR-922	CLIP-seq
MIRT1248173	hsa-miR-103a	CLIP-seq
MIRT1248174	hsa-miR-107	CLIP-seq
MIRT1248175	hsa-miR-1184	CLIP-seq
MIRT1248181	hsa-miR-125a-3p	CLIP-seq
MIRT2597109	hsa-miR-1291	CLIP-seq
MIRT2073249	hsa-miR-145	CLIP-seq
MIRT2073250	hsa-miR-146b-3p	CLIP-seq
MIRT2597110	hsa-miR-147	CLIP-seq
MIRT1248187	hsa-miR-1976	CLIP-seq
MIRT2300380	hsa-miR-2277-3p	CLIP-seq
MIRT2597111	hsa-miR-298	CLIP-seq
MIRT2073256	hsa-miR-3173-5p	CLIP-seq
MIRT2073257	hsa-miR-3183	CLIP-seq
MIRT2597112	hsa-miR-3545-3p	CLIP-seq
MIRT2073263	hsa-miR-3614-5p	CLIP-seq
MIRT2597113	hsa-miR-3661	CLIP-seq
MIRT2597114	hsa-miR-3714	CLIP-seq
MIRT2073266	hsa-miR-3909	CLIP-seq
MIRT2597115	hsa-miR-3911	CLIP-seq
MIRT2300381	hsa-miR-3919	CLIP-seq
MIRT2597116	hsa-miR-4254	CLIP-seq
MIRT2073271	hsa-miR-4308	CLIP-seq
MIRT2073272	hsa-miR-4320	CLIP-seq
MIRT2597117	hsa-miR-4505	CLIP-seq
MIRT2597118	hsa-miR-4519	CLIP-seq
MIRT2597119	hsa-miR-4530	CLIP-seq
MIRT2300382	hsa-miR-4645-5p	CLIP-seq
MIRT2597120	hsa-miR-4648	CLIP-seq
MIRT2597121	hsa-miR-4654	CLIP-seq
MIRT2300383	hsa-miR-4673	CLIP-seq
MIRT1248227	hsa-miR-4710	CLIP-seq
MIRT2073280	hsa-miR-4723-3p	CLIP-seq
MIRT2300384	hsa-miR-4742-5p	CLIP-seq
MIRT2300385	hsa-miR-4755-3p	CLIP-seq
MIRT2597122	hsa-miR-4769-5p	CLIP-seq
MIRT1248241	hsa-miR-552	CLIP-seq
MIRT2597123	hsa-miR-631	CLIP-seq
MIRT2597124	hsa-miR-644	CLIP-seq
MIRT2300386	hsa-miR-649	CLIP-seq
MIRT2073287	hsa-miR-668	CLIP-seq
MIRT2073288	hsa-miR-874	CLIP-seq
MIRT2073289	hsa-miR-890	CLIP-seq
MIRT2300387	hsa-miR-922	CLIP-seq
MIRT2073250	hsa-miR-146b-3p	CLIP-seq
MIRT2597110	hsa-miR-147	CLIP-seq
MIRT2300380	hsa-miR-2277-3p	CLIP-seq
MIRT2073256	hsa-miR-3173-5p	CLIP-seq
MIRT2597112	hsa-miR-3545-3p	CLIP-seq
MIRT2073263	hsa-miR-3614-5p	CLIP-seq
MIRT2597113	hsa-miR-3661	CLIP-seq
MIRT2597115	hsa-miR-3911	CLIP-seq
MIRT2300381	hsa-miR-3919	CLIP-seq
MIRT2073271	hsa-miR-4308	CLIP-seq
MIRT2073272	hsa-miR-4320	CLIP-seq
MIRT2597118	hsa-miR-4519	CLIP-seq
MIRT2597119	hsa-miR-4530	CLIP-seq
MIRT2300382	hsa-miR-4645-5p	CLIP-seq
MIRT2597120	hsa-miR-4648	CLIP-seq
MIRT2597121	hsa-miR-4654	CLIP-seq
MIRT2300383	hsa-miR-4673	CLIP-seq
MIRT2300384	hsa-miR-4742-5p	CLIP-seq
MIRT2300385	hsa-miR-4755-3p	CLIP-seq
MIRT2597122	hsa-miR-4769-5p	CLIP-seq
MIRT2597123	hsa-miR-631	CLIP-seq
MIRT2597124	hsa-miR-644	CLIP-seq
MIRT2300386	hsa-miR-649	CLIP-seq
MIRT2073287	hsa-miR-668	CLIP-seq
MIRT2073288	hsa-miR-874	CLIP-seq
MIRT2073289	hsa-miR-890	CLIP-seq
MIRT2300387	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	34887565
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0000785	Component	Chromatin	IMP	23782956
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	26089203
GO:0003899	Function	DNA-directed RNA polymerase activity	IDA	34671025, 36271492
GO:0003899	Function	DNA-directed RNA polymerase activity	IEA
GO:0003899	Function	DNA-directed RNA polymerase activity	IMP	23782956
GO:0005515	Function	Protein binding	IPI	16514417, 19214185, 21555369, 25416956, 26089203, 26496610, 32296183, 35271311, 36271492
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0005730	Component	Nucleolus	IEA
GO:0005736	Component	RNA polymerase I complex	IBA
GO:0005736	Component	RNA polymerase I complex	IDA	34671025, 36271492
GO:0005736	Component	RNA polymerase I complex	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006360	Process	Transcription by RNA polymerase I	IMP	23782956
GO:0008270	Function	Zinc ion binding	IDA	34671025, 34887565
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0034062	Function	5'-3' RNA polymerase activity	IEA
GO:0042790	Process	Nucleolar large rRNA transcription by RNA polymerase I	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0071667	Function	DNA/RNA hybrid binding	IDA	34671025
GO:1904750	Process	Negative regulation of protein localization to nucleolus	IMP	23782956

Other IDs

• MIM: 616404
• HGNC: 17264
• e!Ensembl: ENSG00000068654

Protein

• UniProt ID: O95602
• Protein name: DNA-directed RNA polymerase I subunit RPA1 (RNA polymerase I subunit A1) (EC 2.7.7.6) (A190) (DNA-directed RNA polymerase I largest subunit) (DNA-directed RNA polymerase I subunit A) (RNA polymerase I 194 kDa subunit) (RPA194)
• Protein function: Catalytic core component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Transcribes 47S pre-rRNAs from multicopy rRNA gene cluster
• PDB: 7OB9, 7OBA, 7OBB, 7VBA, 7VBB, 7VBC, 8A43
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04997	RNA_pol_Rpb1_1	9 → 357	RNA polymerase Rpb1, domain 1	Domain
  PF00623	RNA_pol_Rpb1_2	434 → 614	RNA polymerase Rpb1, domain 2	Domain
  PF04983	RNA_pol_Rpb1_3	617 → 802	RNA polymerase Rpb1, domain 3	Domain
  PF05000	RNA_pol_Rpb1_4	837 → 951	RNA polymerase Rpb1, domain 4	Domain
  PF04998	RNA_pol_Rpb1_5	958 → 1670	RNA polymerase Rpb1, domain 5	Domain

• Sequence:

  MLISKNMPWRRLQGISFGMYSAEELKKLSVKSITNPRYLDSLGNPSANGLYDLALGPADS
  KEVCSTCVQDFSNCSGHLGHIELPLTVYNPLLFDKLYLLLRGSCLNCHMLTCPRAVIHLL
  LCQLRVLEVGALQAVYELERILNRFLEENPDPSASEIREELEQYTTEIVQNNLLGSQGAH
  VKNVCESKSKLIALFWKAHMNAKRCPHCKTGRSVVRKEHNSKLTITFPAMVHRTAGQKDS
  EPLGIEEAQIGKRGYLTPTSAREHLSALWKNEGFFLNYLFSGMDDDGMESRFNPSVFFLD
  FLVVPPSRYRPVSRLGDQMFTNGQTVNLQAVMKDVVLIRKLLALMAQEQKLPEEVATPTT
  DEEKDSLIAIDRSFLSTLPGQSLIDKLYNIWIRLQSHVNIVFDSEMDKLMMDKYPGIRQI
  LEKKEGLFRKHMMGKRVDYAARSVICPDMYINTNEIGIPMVFATKLTYPQPVTPWNVQEL
  RQAVINGPNVHPGASMVINEDGSRTALSAVDMTQREAVAKQLLTPATGAPKPQGTKIVCR
  HVKNGDILLLNRQPTLHRPSIQAHRARILPEEKVLRLHYANCKAYNADFDGDEMNAHFPQ
  SELGRAEAYVLACTDQQYLVPKDGQPLAGLIQDHMVSGASMTTRGCFFTREHYMELVYRG
  LTDKVGRVKLLSPSILKPFPLWTGKQVVSTLLINIIPEDHIPLNLSGKAKITGKAWVKET
  PRSVPGFNPDSMCESQVIIREGELLCGVLDKAHYGSSAYGLVHCCYEIYGGETSGKVLTC
  LARLFTAYLQLYRGFTLGVEDILVKPKADVKRQRIIEESTHCGPQAVRAALNLPEAASYD
  EVRGKWQDAHLGKDQRDFNMIDLKFKEEVNHYSNEINKACMPFGLHRQFPENSLQMMVQS
  GAKGSTVNTMQISCLLGQIELEGRRPPLMASGKSLPCFEPYEFTPRAGGFVTGRFLTGIK
  PPEFFFHCMAGREGLVDTAVKTSRSGYLQRCIIKHLEGLVVQYDLTVRDSDGSVVQFLYG
  EDGLDIPKTQFLQPKQFPFLASNYEVIMKSQHLHEVLSRADPKKALHHFRAIKKWQSKHP
  NTLLRRGAFLSYSQKIQEAVKALKLESENRNGRSPGTQEMLRMWYELDEESRRKYQKKAA
  ACPDPSLSVWRPDIYFASVSETFETKVDDYSQEWAAQTEKSYEKSELSLDRLRTLLQLKW
  QRSLCEPGEAVGLLAAQSIGEPSTQMTLNTFHFAGRGEMNVTLGIPRLREILMVASANIK
  TPMMSVPVLNTKKALKRVKSLKKQLTRVCLGEVLQKIDVQESFCMEEKQNKFQVYQLRFQ
  FLPHAYYQQEKCLRPEDILRFMETRFFKLLMESIKKKNNKASAFRNVNTRRATQRDLDNA
  GELGRSRGEQEGDEEEEGHIVDAEAEEGDADASDAKRKEKQEEEVDYESEEEEEREGEEN
  DDEDMQEERNPHREGARKTQEQDEEVGLGTEEDPSLPALLTQPRKPTHSQEPQGPEAMER
  RVQAVREIHPFIDDYQYDTEESLWCQVTVKLPLMKINFDMSSLVVSLAHGAVIYATKGIT
  RCLLNETTNNKNEKELVLNTEGINLPELFKYAEVLDLRRLYSNDIHAIANTYGIEAALRV
  IEKEIKDVFAVYGIAVDPRHLSLVADYMCFEGVYKPLNRFGIRSNSSPLQQMTFETSFQF
  LKQATMLGSHDELRSPSACLVVGKVVRGGTGLFELKQPLR

• Sequence length: 1720

Pathways

KEGG:

RNA polymerase

Reactome:

B-WICH complex positively regulates rRNA expression
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Transcription Termination

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
Acrofacial dysostosis Cincinnati type	Pathogenic; Likely pathogenic	rs794729674, rs875989814, rs2466502156, rs1064795108, rs1377622831	RCV000185618 RCV000185619 RCV003225708 RCV003482260 RCV000768447	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURN-MCKEOWN SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, HYPOMYELINATING	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, hypomyelinating, 27	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLR1A-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrofacial Dysostosis	Acrofacial Dysostosis	GENOMICS_ENGLAND_DG	25434003		★☆☆☆☆ Found in Text Mining only
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE	Acrofacial Dysostosis	GENOMICS_ENGLAND_DG	25434003, 25913037		★☆☆☆☆ Found in Text Mining only
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE	Acrofacial Dysostosis	UNIPROT_DG	25913037		★☆☆☆☆ Found in Text Mining only
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE	Acrofacial Dysostosis	BEFREE	29750247		★☆☆☆☆ Found in Text Mining only
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE	Acrofacial Dysostosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE	Acrofacial Dysostosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	17959650	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29474873	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	28924235	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	22948311, 23897887, 8246944, 8986766	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	7761458	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	22106380	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	26366868	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	34767620	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27921323, 28940489, 30420728		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21666281, 30420728	Associate	★☆☆☆☆ Found in Text Mining only
Burn-Mckeown syndrome	Burn-Mckeown Syndrome	ORPHANET_DG	25913037		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burn-McKeown syndrome	Burn-Mckeown Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	30144445		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29477843		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	11895905	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24214091		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24706380		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	10733572	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30923916		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17361204, 32396863	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	31297992	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of external ear	Anotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11063722		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	11063722		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11063722		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	27062014		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24789547, 26824734, 29477843		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24789547		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	27398742, 34404366, 35506981	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP J	Fanconi Anemia	BEFREE	17596542		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	30888702		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	30888702	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21617879		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21617879		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	27182645	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20103649, 28186269	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	17109495	Associate	★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	37378431	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	20532800	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	28051070		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	28051070, 36917474	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29477843, 29601890		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21846830, 36277983	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27921323		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17361204	Associate	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27921323, 28940489, 30420728		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24789547		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	29601890		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29477843		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24214091		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	30144445		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10419555, 27921323, 30366191, 30888702		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11895905		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	28051070		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial dysostosis	Pubtator	28051070	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	GENOMICS_ENGLAND_DG	25434003		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	26366868		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26366868		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26366868	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27921323		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	34767620	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30144445		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	37858134	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23589362, 29477843, 30144445, 31297925		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27921323		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28051070, 36917474	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28051070		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28186269, 28638454		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26782416	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31000419		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21846830	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32300177	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	27921323		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	34767620	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27921323		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	30888702		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	30888702	Associate	★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	19602484		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	20947490		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	24179173		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32862594, 35036435	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30888702		★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	34767620	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	28924235	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30467380		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34404366	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19389243, 23010595	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	10733572	Stimulate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group E	Xeroderma pigmentosum	Pubtator	9584159	Associate	★☆☆☆☆ Found in Text Mining only