HNRNPR (heterogeneous nuclear ribonucleoprotein R)

Gene

• Entrez ID: 10236
• Gene name: Heterogeneous nuclear ribonucleoprotein R
• Gene symbol: HNRNPR
• Synonyms (NCBI Gene): HNRPR, NEDDFSB, hnRNP-R
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple trans

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553153365	G>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031331	hsa-miR-18a-5p	Sequencing	20371350
MIRT040144	hsa-miR-615-3p	CLASH	23622248
MIRT038314	hsa-miR-130b-5p	CLASH	23622248
MIRT036632	hsa-miR-940	CLASH	23622248
MIRT657328	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT657327	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT657326	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT657325	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT657324	hsa-miR-5096	HITS-CLIP	23824327
MIRT547936	hsa-miR-409-3p	PAR-CLIP	21572407
MIRT547935	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT547934	hsa-miR-1197	PAR-CLIP	21572407
MIRT547933	hsa-miR-33a-3p	PAR-CLIP	21572407
MIRT547932	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT547931	hsa-miR-4307	PAR-CLIP	21572407
MIRT547930	hsa-miR-2052	PAR-CLIP	21572407
MIRT547929	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT547928	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT547927	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT547926	hsa-miR-183-3p	PAR-CLIP	21572407
MIRT547925	hsa-miR-4452	PAR-CLIP	21572407
MIRT547924	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT506994	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT506993	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT506992	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT506991	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT506990	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT506989	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT506988	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT506987	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT506986	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT506985	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT506984	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT506983	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT506982	hsa-miR-302e	PAR-CLIP	23446348
MIRT506981	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT506980	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT506979	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT506978	hsa-miR-520b	PAR-CLIP	23446348
MIRT506977	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT506976	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT506975	hsa-miR-520e	PAR-CLIP	23446348
MIRT506974	hsa-miR-6505-5p	PAR-CLIP	23446348
MIRT498227	hsa-miR-32-3p	PAR-CLIP	22291592
MIRT498226	hsa-miR-4735-5p	PAR-CLIP	22291592
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT440489	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT440489	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT657328	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT657327	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT657326	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT657325	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT657324	hsa-miR-5096	HITS-CLIP	23824327
MIRT547936	hsa-miR-409-3p	PAR-CLIP	21572407
MIRT547935	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT547934	hsa-miR-1197	PAR-CLIP	21572407
MIRT547933	hsa-miR-33a-3p	PAR-CLIP	21572407
MIRT547932	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT547931	hsa-miR-4307	PAR-CLIP	21572407
MIRT547930	hsa-miR-2052	PAR-CLIP	21572407
MIRT547929	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT547928	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT547927	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT547926	hsa-miR-183-3p	PAR-CLIP	21572407
MIRT547925	hsa-miR-4452	PAR-CLIP	21572407
MIRT547924	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT506994	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT506993	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT506992	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT506991	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT506990	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT506989	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT506988	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT506987	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT506986	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT506985	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT506984	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT506983	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT506982	hsa-miR-302e	PAR-CLIP	23446348
MIRT506981	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT506980	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT506979	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT506978	hsa-miR-520b	PAR-CLIP	23446348
MIRT506977	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT506976	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT506975	hsa-miR-520e	PAR-CLIP	23446348
MIRT506974	hsa-miR-6505-5p	PAR-CLIP	23446348
MIRT498227	hsa-miR-32-3p	PAR-CLIP	22291592
MIRT498226	hsa-miR-4735-5p	PAR-CLIP	22291592
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT441481	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT1051883	hsa-miR-203	CLIP-seq
MIRT1051884	hsa-miR-3120-3p	CLIP-seq
MIRT1051885	hsa-miR-3133	CLIP-seq
MIRT1051886	hsa-miR-3145-5p	CLIP-seq
MIRT1051887	hsa-miR-380	CLIP-seq
MIRT1051888	hsa-miR-3978	CLIP-seq
MIRT1051889	hsa-miR-4453	CLIP-seq
MIRT1051890	hsa-miR-4495	CLIP-seq
MIRT1051891	hsa-miR-4538	CLIP-seq
MIRT1051892	hsa-miR-4661-5p	CLIP-seq
MIRT1051893	hsa-miR-4666-3p	CLIP-seq
MIRT1051894	hsa-miR-4666-5p	CLIP-seq
MIRT1051895	hsa-miR-4699-3p	CLIP-seq
MIRT1051896	hsa-miR-4705	CLIP-seq
MIRT1051897	hsa-miR-4733-5p	CLIP-seq
MIRT1051898	hsa-miR-494	CLIP-seq
MIRT1051899	hsa-miR-508-5p	CLIP-seq
MIRT1051900	hsa-miR-600	CLIP-seq
MIRT1051901	hsa-miR-643	CLIP-seq
MIRT1051902	hsa-miR-1245	CLIP-seq
MIRT1051903	hsa-miR-3157-5p	CLIP-seq
MIRT1051904	hsa-miR-4659a-3p	CLIP-seq
MIRT1051905	hsa-miR-4659b-3p	CLIP-seq
MIRT1051906	hsa-miR-4690-3p	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT1051908	hsa-miR-3119	CLIP-seq
MIRT1051909	hsa-miR-3125	CLIP-seq
MIRT1051910	hsa-miR-3140-3p	CLIP-seq
MIRT1051911	hsa-miR-3148	CLIP-seq
MIRT1051912	hsa-miR-335	CLIP-seq
MIRT1051913	hsa-miR-3611	CLIP-seq
MIRT1051914	hsa-miR-3613-3p	CLIP-seq
MIRT1051915	hsa-miR-3674	CLIP-seq
MIRT1051916	hsa-miR-3916	CLIP-seq
MIRT1051917	hsa-miR-4436b-3p	CLIP-seq
MIRT1051918	hsa-miR-4471	CLIP-seq
MIRT1051919	hsa-miR-4503	CLIP-seq
MIRT1051920	hsa-miR-4670-3p	CLIP-seq
MIRT1051921	hsa-miR-4680-5p	CLIP-seq
MIRT1051922	hsa-miR-4729	CLIP-seq
MIRT1051923	hsa-miR-4761-3p	CLIP-seq
MIRT1051924	hsa-miR-4772-3p	CLIP-seq
MIRT1051925	hsa-miR-548ac	CLIP-seq
MIRT1051926	hsa-miR-548ae	CLIP-seq
MIRT1051927	hsa-miR-548aj	CLIP-seq
MIRT1051928	hsa-miR-548am	CLIP-seq
MIRT1051929	hsa-miR-548d-3p	CLIP-seq
MIRT1051930	hsa-miR-548x	CLIP-seq
MIRT1051931	hsa-miR-548z	CLIP-seq
MIRT1051932	hsa-miR-583	CLIP-seq
MIRT1051933	hsa-miR-607	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT1051885	hsa-miR-3133	CLIP-seq
MIRT1051912	hsa-miR-335	CLIP-seq
MIRT1051914	hsa-miR-3613-3p	CLIP-seq
MIRT1051915	hsa-miR-3674	CLIP-seq
MIRT2011789	hsa-miR-3935	CLIP-seq
MIRT1051917	hsa-miR-4436b-3p	CLIP-seq
MIRT1051918	hsa-miR-4471	CLIP-seq
MIRT2011790	hsa-miR-4475	CLIP-seq
MIRT1051893	hsa-miR-4666-3p	CLIP-seq
MIRT1051921	hsa-miR-4680-5p	CLIP-seq
MIRT1051896	hsa-miR-4705	CLIP-seq
MIRT1051922	hsa-miR-4729	CLIP-seq
MIRT2011791	hsa-miR-4738-3p	CLIP-seq
MIRT1051923	hsa-miR-4761-3p	CLIP-seq
MIRT1051924	hsa-miR-4772-3p	CLIP-seq
MIRT2011792	hsa-miR-548aa	CLIP-seq
MIRT2011793	hsa-miR-548g	CLIP-seq
MIRT1051933	hsa-miR-607	CLIP-seq
MIRT2244064	hsa-miR-1202	CLIP-seq
MIRT2244065	hsa-miR-127-5p	CLIP-seq
MIRT2244066	hsa-miR-129-5p	CLIP-seq
MIRT2244067	hsa-miR-1305	CLIP-seq
MIRT2244068	hsa-miR-132	CLIP-seq
MIRT1051883	hsa-miR-203	CLIP-seq
MIRT2244069	hsa-miR-212	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT1051908	hsa-miR-3119	CLIP-seq
MIRT1051885	hsa-miR-3133	CLIP-seq
MIRT1051910	hsa-miR-3140-3p	CLIP-seq
MIRT2244070	hsa-miR-3185	CLIP-seq
MIRT2244071	hsa-miR-3662	CLIP-seq
MIRT2244072	hsa-miR-3668	CLIP-seq
MIRT2011789	hsa-miR-3935	CLIP-seq
MIRT2244073	hsa-miR-3972	CLIP-seq
MIRT1051888	hsa-miR-3978	CLIP-seq
MIRT2244074	hsa-miR-4302	CLIP-seq
MIRT2244075	hsa-miR-433	CLIP-seq
MIRT1051893	hsa-miR-4666-3p	CLIP-seq
MIRT1051896	hsa-miR-4705	CLIP-seq
MIRT2244076	hsa-miR-4709-3p	CLIP-seq
MIRT2244077	hsa-miR-4731-3p	CLIP-seq
MIRT1051924	hsa-miR-4772-3p	CLIP-seq
MIRT2244078	hsa-miR-4789-5p	CLIP-seq
MIRT2244079	hsa-miR-4801	CLIP-seq
MIRT2244080	hsa-miR-496	CLIP-seq
MIRT2244081	hsa-miR-498	CLIP-seq
MIRT2244082	hsa-miR-548u	CLIP-seq
MIRT2244083	hsa-miR-648	CLIP-seq
MIRT2244064	hsa-miR-1202	CLIP-seq
MIRT1051902	hsa-miR-1245	CLIP-seq
MIRT2244065	hsa-miR-127-5p	CLIP-seq
MIRT2547109	hsa-miR-129-3p	CLIP-seq
MIRT2244066	hsa-miR-129-5p	CLIP-seq
MIRT2244067	hsa-miR-1305	CLIP-seq
MIRT2244068	hsa-miR-132	CLIP-seq
MIRT2547110	hsa-miR-2054	CLIP-seq
MIRT2244069	hsa-miR-212	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT2547111	hsa-miR-2355-5p	CLIP-seq
MIRT1051908	hsa-miR-3119	CLIP-seq
MIRT1051884	hsa-miR-3120-3p	CLIP-seq
MIRT1051909	hsa-miR-3125	CLIP-seq
MIRT1051910	hsa-miR-3140-3p	CLIP-seq
MIRT1051886	hsa-miR-3145-5p	CLIP-seq
MIRT1051911	hsa-miR-3148	CLIP-seq
MIRT2244070	hsa-miR-3185	CLIP-seq
MIRT2547112	hsa-miR-330-3p	CLIP-seq
MIRT1051912	hsa-miR-335	CLIP-seq
MIRT1051914	hsa-miR-3613-3p	CLIP-seq
MIRT2547113	hsa-miR-3617	CLIP-seq
MIRT2547114	hsa-miR-3646	CLIP-seq
MIRT2244071	hsa-miR-3662	CLIP-seq
MIRT2244072	hsa-miR-3668	CLIP-seq
MIRT1051915	hsa-miR-3674	CLIP-seq
MIRT1051887	hsa-miR-380	CLIP-seq
MIRT1051916	hsa-miR-3916	CLIP-seq
MIRT2011789	hsa-miR-3935	CLIP-seq
MIRT2244073	hsa-miR-3972	CLIP-seq
MIRT2244074	hsa-miR-4302	CLIP-seq
MIRT2244075	hsa-miR-433	CLIP-seq
MIRT2547115	hsa-miR-4422	CLIP-seq
MIRT1051917	hsa-miR-4436b-3p	CLIP-seq
MIRT1051889	hsa-miR-4453	CLIP-seq
MIRT1051918	hsa-miR-4471	CLIP-seq
MIRT2011790	hsa-miR-4475	CLIP-seq
MIRT1051890	hsa-miR-4495	CLIP-seq
MIRT1051919	hsa-miR-4503	CLIP-seq
MIRT1051891	hsa-miR-4538	CLIP-seq
MIRT1051892	hsa-miR-4661-5p	CLIP-seq
MIRT1051921	hsa-miR-4680-5p	CLIP-seq
MIRT1051895	hsa-miR-4699-3p	CLIP-seq
MIRT2244076	hsa-miR-4709-3p	CLIP-seq
MIRT1051922	hsa-miR-4729	CLIP-seq
MIRT2244077	hsa-miR-4731-3p	CLIP-seq
MIRT1051897	hsa-miR-4733-5p	CLIP-seq
MIRT2011791	hsa-miR-4738-3p	CLIP-seq
MIRT1051923	hsa-miR-4761-3p	CLIP-seq
MIRT1051924	hsa-miR-4772-3p	CLIP-seq
MIRT2547116	hsa-miR-4786-3p	CLIP-seq
MIRT2244078	hsa-miR-4789-5p	CLIP-seq
MIRT2244079	hsa-miR-4801	CLIP-seq
MIRT1051898	hsa-miR-494	CLIP-seq
MIRT2244080	hsa-miR-496	CLIP-seq
MIRT2244081	hsa-miR-498	CLIP-seq
MIRT1051899	hsa-miR-508-5p	CLIP-seq
MIRT2547117	hsa-miR-518d-5p	CLIP-seq
MIRT2547118	hsa-miR-519b-5p	CLIP-seq
MIRT2547119	hsa-miR-519c-5p	CLIP-seq
MIRT2547120	hsa-miR-520c-5p	CLIP-seq
MIRT2547121	hsa-miR-526a	CLIP-seq
MIRT2547122	hsa-miR-544	CLIP-seq
MIRT2011792	hsa-miR-548aa	CLIP-seq
MIRT2011793	hsa-miR-548g	CLIP-seq
MIRT2244082	hsa-miR-548u	CLIP-seq
MIRT1051932	hsa-miR-583	CLIP-seq
MIRT1051933	hsa-miR-607	CLIP-seq
MIRT2547123	hsa-miR-641	CLIP-seq
MIRT1051901	hsa-miR-643	CLIP-seq
MIRT2244083	hsa-miR-648	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT2244065	hsa-miR-127-5p	CLIP-seq
MIRT2244066	hsa-miR-129-5p	CLIP-seq
MIRT2244068	hsa-miR-132	CLIP-seq
MIRT2547110	hsa-miR-2054	CLIP-seq
MIRT2244069	hsa-miR-212	CLIP-seq
MIRT1051907	hsa-miR-2276	CLIP-seq
MIRT2547111	hsa-miR-2355-5p	CLIP-seq
MIRT1051908	hsa-miR-3119	CLIP-seq
MIRT1051884	hsa-miR-3120-3p	CLIP-seq
MIRT1051909	hsa-miR-3125	CLIP-seq
MIRT1051910	hsa-miR-3140-3p	CLIP-seq
MIRT1051886	hsa-miR-3145-5p	CLIP-seq
MIRT1051911	hsa-miR-3148	CLIP-seq
MIRT2244070	hsa-miR-3185	CLIP-seq
MIRT2547112	hsa-miR-330-3p	CLIP-seq
MIRT1051912	hsa-miR-335	CLIP-seq
MIRT1051914	hsa-miR-3613-3p	CLIP-seq
MIRT2547113	hsa-miR-3617	CLIP-seq
MIRT1051915	hsa-miR-3674	CLIP-seq
MIRT1051916	hsa-miR-3916	CLIP-seq
MIRT2244074	hsa-miR-4302	CLIP-seq
MIRT2244075	hsa-miR-433	CLIP-seq
MIRT2547115	hsa-miR-4422	CLIP-seq
MIRT1051917	hsa-miR-4436b-3p	CLIP-seq
MIRT1051889	hsa-miR-4453	CLIP-seq
MIRT1051918	hsa-miR-4471	CLIP-seq
MIRT2011790	hsa-miR-4475	CLIP-seq
MIRT1051919	hsa-miR-4503	CLIP-seq
MIRT1051891	hsa-miR-4538	CLIP-seq
MIRT1051892	hsa-miR-4661-5p	CLIP-seq
MIRT1051921	hsa-miR-4680-5p	CLIP-seq
MIRT1051895	hsa-miR-4699-3p	CLIP-seq
MIRT2244076	hsa-miR-4709-3p	CLIP-seq
MIRT1051922	hsa-miR-4729	CLIP-seq
MIRT2011791	hsa-miR-4738-3p	CLIP-seq
MIRT1051923	hsa-miR-4761-3p	CLIP-seq
MIRT1051924	hsa-miR-4772-3p	CLIP-seq
MIRT1051898	hsa-miR-494	CLIP-seq
MIRT1051899	hsa-miR-508-5p	CLIP-seq
MIRT2547122	hsa-miR-544	CLIP-seq
MIRT2011792	hsa-miR-548aa	CLIP-seq
MIRT2011793	hsa-miR-548g	CLIP-seq
MIRT2244082	hsa-miR-548u	CLIP-seq
MIRT1051932	hsa-miR-583	CLIP-seq
MIRT1051933	hsa-miR-607	CLIP-seq
MIRT2547123	hsa-miR-641	CLIP-seq
MIRT1051901	hsa-miR-643	CLIP-seq
MIRT2244083	hsa-miR-648	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	NAS	9421497
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	16169070, 17474147, 25416956, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	31079900
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	9421497
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	NAS	9421497
GO:0005730	Component	Nucleolus	IDA	9421497
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	NAS	9421497
GO:0008380	Process	RNA splicing	IEA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0071013	Component	Catalytic step 2 spliceosome	IEA
GO:1990904	Component	Ribonucleoprotein complex	IBA
GO:1990904	Component	Ribonucleoprotein complex	IDA	17289661
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 607201
• HGNC: 5047
• e!Ensembl: ENSG00000125944

Protein

• UniProt ID: O43390
• Protein name: Heterogeneous nuclear ribonucleoprotein R (hnRNP R)
• Protein function: Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus.
• PDB: 2DK2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18360	hnRNP_Q_AcD	37 → 106	Heterogeneous nuclear ribonucleoprotein Q acidic domain	Domain
  PF00076	RRM_1	167 → 235	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	248 → 315	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	343 → 405	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

• Sequence:

  MANQVNGNAVQLKEEEEPMDTSSVTHTEHYKTLIEAGLPQKVAERLDEIFQTGLVAYVDL
  DERAIDALREFNEEGALSVLQQFKESDLSHVQNKSAFLCGVMKTYRQREKQGSKVQESTK
  GPDEAKIKALLERTGYTLDVTTGQRKYGGPPPDSVYSGVQPGIGTEVFVGKIPRDLYEDE
  LVPLFEKAGPIWDLRLMMDPLSGQNRGYAFITFCGKEAAQEAVKLCDSYEIRPGKHLGVC
  ISVANNRLFVGSIPKNKTKENILEEFSKVTEGLVDVILYHQPDDKKKNRGFCFLEYEDHK
  SAAQARRRLMSGKVKVWGNVVTVEWADPVEEPDPEVMAKVKVLFVRNLATTVTEEILEKS
  FSEFGKLERVKKLKDYAFVHFEDRGAAVKAMDEMNGKEIEGEEIEIVLAKPPDKKRKERQ
  AARQASRSTAYEDYYYHPPPRMPPPIRGRGRGGGRGGYGYPPDYYGYEDYYDDYYGYDYH
  DYRGGYEDPYYGYDDGYAVRGRGGGRGGRGAPPPPRGRGAPPPRGRAGYSQRGAPLGPPR
  GSRGGRGGPAQQQRGRGSRGSRGNRGGNVGGKRKADGYNQPDSKRRQTNNQQNWGSQPIA
  QQPLQQGGDYSGNYGYNNDNQEFYQDTYGQQWK

• Sequence length: 633

Pathways

Reactome:

mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA

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
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	Pathogenic; Likely pathogenic	rs35459559, rs2523616146, rs2523611526, rs1553153365	RCV002291257 RCV002291258 RCV002291259 RCV002291282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HNRNPR-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER-BRAIN MALFORMATION-FACIAL DYSMORPHISM-BRACHYDACTYLY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	Pubtator	31079900	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	36195940	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	9421497	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	31079900		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	31079900	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21466612		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34258925	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	31079900	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31079900		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31079900	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	31079900	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36195940	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30755280		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	30755280		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	36195940	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29687002	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	26795593		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	26795593		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21466612		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31527303		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31527303		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21466612		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21466612		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21466612		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40	Mental retardation	GENOMICS_ENGLAND_DG	31079900		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11773003, 14623865, 15822126, 15858414, 16757948, 17603806, 19015982, 20167579, 20382278, 20584894, 20795951, 22366783, 22498899, 23734093, 23756437, 23934111, 25338097, 9421497		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31527303		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30214903		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34258925, 38331110	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31079900	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31079900	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	11773003		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31527303		★☆☆☆☆ Found in Text Mining only