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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23020
Gene name	Small nuclear ribonucleoprotein U5 subunit 200
Gene symbol	SNRNP200
Synonyms (NCBI Gene)	ASCC3L1BRR2HELIC2RP33U5-200KD
Chromosome	2
Chromosome location	2q11.2
Summary	Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together

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SNP ID	Visualize variation	Clinical significance	Consequence
rs144934076	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs267607077	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs373701482	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs375734152	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs397514574	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514575	G>C	Pathogenic	Coding sequence variant, missense variant
rs527236113	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs527236114	C>A	Pathogenic	Coding sequence variant, missense variant
rs527236115	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs786205529	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs933842186	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs959069360	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1470798497	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1477839027	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant

196

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miRTarBase ID	miRNA	Experiments	Reference
MIRT048637	hsa-miR-99a-5p	CLASH	23622248
MIRT046154	hsa-miR-30b-5p	CLASH	23622248
MIRT045437	hsa-miR-149-5p	CLASH	23622248
MIRT041550	hsa-miR-193b-3p	CLASH	23622248
MIRT040511	hsa-miR-548b-3p	CLASH	23622248
MIRT039338	hsa-miR-425-5p	CLASH	23622248
MIRT038194	hsa-miR-151a-5p	CLASH	23622248
MIRT037150	hsa-miR-877-3p	CLASH	23622248
MIRT1375832	hsa-let-7a	CLIP-seq
MIRT1375833	hsa-let-7b	CLIP-seq
MIRT1375834	hsa-let-7c	CLIP-seq
MIRT1375835	hsa-let-7d	CLIP-seq
MIRT1375836	hsa-let-7e	CLIP-seq
MIRT1375837	hsa-let-7f	CLIP-seq
MIRT1375838	hsa-let-7g	CLIP-seq
MIRT1375839	hsa-let-7i	CLIP-seq
MIRT1375840	hsa-miR-1243	CLIP-seq
MIRT1375841	hsa-miR-1908	CLIP-seq
MIRT1375842	hsa-miR-1915	CLIP-seq
MIRT1375843	hsa-miR-3065-3p	CLIP-seq
MIRT1375844	hsa-miR-3133	CLIP-seq
MIRT1375845	hsa-miR-3166	CLIP-seq
MIRT1375846	hsa-miR-3647-3p	CLIP-seq
MIRT1375847	hsa-miR-3689d	CLIP-seq
MIRT1375848	hsa-miR-370	CLIP-seq
MIRT1375849	hsa-miR-371b-5p	CLIP-seq
MIRT1375850	hsa-miR-4458	CLIP-seq
MIRT1375851	hsa-miR-4468	CLIP-seq
MIRT1375852	hsa-miR-4494	CLIP-seq
MIRT1375853	hsa-miR-4500	CLIP-seq
MIRT1375854	hsa-miR-4511	CLIP-seq
MIRT1375855	hsa-miR-4706	CLIP-seq
MIRT1375856	hsa-miR-4726-3p	CLIP-seq
MIRT1375857	hsa-miR-4749-5p	CLIP-seq
MIRT1375858	hsa-miR-4795-5p	CLIP-seq
MIRT1375859	hsa-miR-491-3p	CLIP-seq
MIRT1375860	hsa-miR-499a-5p	CLIP-seq
MIRT1375861	hsa-miR-520a-5p	CLIP-seq
MIRT1375862	hsa-miR-525-5p	CLIP-seq
MIRT1375863	hsa-miR-626	CLIP-seq
MIRT1375864	hsa-miR-663	CLIP-seq
MIRT1375865	hsa-miR-665	CLIP-seq
MIRT1375866	hsa-miR-668	CLIP-seq
MIRT1375867	hsa-miR-759	CLIP-seq
MIRT1375868	hsa-miR-873	CLIP-seq
MIRT1375869	hsa-miR-888	CLIP-seq
MIRT1375870	hsa-miR-98	CLIP-seq
MIRT2111756	hsa-miR-3064-5p	CLIP-seq
MIRT1375844	hsa-miR-3133	CLIP-seq
MIRT1375846	hsa-miR-3647-3p	CLIP-seq
MIRT2111757	hsa-miR-3652	CLIP-seq
MIRT2111758	hsa-miR-3685	CLIP-seq
MIRT1375849	hsa-miR-371b-5p	CLIP-seq
MIRT2111759	hsa-miR-4286	CLIP-seq
MIRT2111760	hsa-miR-4430	CLIP-seq
MIRT2111761	hsa-miR-4435	CLIP-seq
MIRT1375852	hsa-miR-4494	CLIP-seq
MIRT2111762	hsa-miR-4505	CLIP-seq
MIRT1375854	hsa-miR-4511	CLIP-seq
MIRT2111763	hsa-miR-4643	CLIP-seq
MIRT2111764	hsa-miR-4649-3p	CLIP-seq
MIRT2111765	hsa-miR-466	CLIP-seq
MIRT2111766	hsa-miR-4760-3p	CLIP-seq
MIRT2111767	hsa-miR-4789-3p	CLIP-seq
MIRT1375860	hsa-miR-499a-5p	CLIP-seq
MIRT2111768	hsa-miR-544b	CLIP-seq
MIRT1375868	hsa-miR-873	CLIP-seq
MIRT1375869	hsa-miR-888	CLIP-seq
MIRT2335042	hsa-miR-3155	CLIP-seq
MIRT2335043	hsa-miR-3155b	CLIP-seq
MIRT1375846	hsa-miR-3647-3p	CLIP-seq
MIRT2111758	hsa-miR-3685	CLIP-seq
MIRT1375854	hsa-miR-4511	CLIP-seq
MIRT2111763	hsa-miR-4643	CLIP-seq
MIRT2111765	hsa-miR-466	CLIP-seq
MIRT2111766	hsa-miR-4760-3p	CLIP-seq
MIRT2111767	hsa-miR-4789-3p	CLIP-seq
MIRT1375858	hsa-miR-4795-5p	CLIP-seq
MIRT2335044	hsa-miR-484	CLIP-seq
MIRT1375868	hsa-miR-873	CLIP-seq
MIRT2111763	hsa-miR-4643	CLIP-seq
MIRT2111765	hsa-miR-466	CLIP-seq
MIRT2111766	hsa-miR-4760-3p	CLIP-seq
MIRT2111767	hsa-miR-4789-3p	CLIP-seq
MIRT1375846	hsa-miR-3647-3p	CLIP-seq
MIRT1375840	hsa-miR-1243	CLIP-seq
MIRT2440622	hsa-miR-3153	CLIP-seq
MIRT1375861	hsa-miR-520a-5p	CLIP-seq
MIRT1375862	hsa-miR-525-5p	CLIP-seq
MIRT1375866	hsa-miR-668	CLIP-seq
MIRT1375867	hsa-miR-759	CLIP-seq
MIRT1375832	hsa-let-7a	CLIP-seq
MIRT1375833	hsa-let-7b	CLIP-seq
MIRT1375834	hsa-let-7c	CLIP-seq
MIRT1375835	hsa-let-7d	CLIP-seq
MIRT1375836	hsa-let-7e	CLIP-seq
MIRT1375837	hsa-let-7f	CLIP-seq
MIRT1375838	hsa-let-7g	CLIP-seq
MIRT1375839	hsa-let-7i	CLIP-seq
MIRT2629044	hsa-miR-1226	CLIP-seq
MIRT2629045	hsa-miR-1228	CLIP-seq
MIRT1375840	hsa-miR-1243	CLIP-seq
MIRT1375841	hsa-miR-1908	CLIP-seq
MIRT2629046	hsa-miR-29a	CLIP-seq
MIRT2629047	hsa-miR-29b	CLIP-seq
MIRT2629048	hsa-miR-29c	CLIP-seq
MIRT2111756	hsa-miR-3064-5p	CLIP-seq
MIRT1375843	hsa-miR-3065-3p	CLIP-seq
MIRT2440622	hsa-miR-3153	CLIP-seq
MIRT2335042	hsa-miR-3155	CLIP-seq
MIRT2335043	hsa-miR-3155b	CLIP-seq
MIRT2111757	hsa-miR-3652	CLIP-seq
MIRT2629049	hsa-miR-3661	CLIP-seq
MIRT2111758	hsa-miR-3685	CLIP-seq
MIRT1375847	hsa-miR-3689d	CLIP-seq
MIRT1375848	hsa-miR-370	CLIP-seq
MIRT2629050	hsa-miR-3909	CLIP-seq
MIRT2629051	hsa-miR-3975	CLIP-seq
MIRT2629052	hsa-miR-4281	CLIP-seq
MIRT2111759	hsa-miR-4286	CLIP-seq
MIRT2111760	hsa-miR-4430	CLIP-seq
MIRT2111761	hsa-miR-4435	CLIP-seq
MIRT1375850	hsa-miR-4458	CLIP-seq
MIRT1375851	hsa-miR-4468	CLIP-seq
MIRT1375853	hsa-miR-4500	CLIP-seq
MIRT2111762	hsa-miR-4505	CLIP-seq
MIRT2111763	hsa-miR-4643	CLIP-seq
MIRT2111764	hsa-miR-4649-3p	CLIP-seq
MIRT2111765	hsa-miR-466	CLIP-seq
MIRT2629053	hsa-miR-4691-5p	CLIP-seq
MIRT1375855	hsa-miR-4706	CLIP-seq
MIRT1375857	hsa-miR-4749-5p	CLIP-seq
MIRT2111766	hsa-miR-4760-3p	CLIP-seq
MIRT2111767	hsa-miR-4789-3p	CLIP-seq
MIRT1375858	hsa-miR-4795-5p	CLIP-seq
MIRT2629054	hsa-miR-4798-3p	CLIP-seq
MIRT2335044	hsa-miR-484	CLIP-seq
MIRT1375861	hsa-miR-520a-5p	CLIP-seq
MIRT1375862	hsa-miR-525-5p	CLIP-seq
MIRT2111768	hsa-miR-544b	CLIP-seq
MIRT2629055	hsa-miR-548v	CLIP-seq
MIRT1375863	hsa-miR-626	CLIP-seq
MIRT2629056	hsa-miR-631	CLIP-seq
MIRT1375864	hsa-miR-663	CLIP-seq
MIRT1375866	hsa-miR-668	CLIP-seq
MIRT1375867	hsa-miR-759	CLIP-seq
MIRT1375870	hsa-miR-98	CLIP-seq
MIRT1375832	hsa-let-7a	CLIP-seq
MIRT1375833	hsa-let-7b	CLIP-seq
MIRT1375834	hsa-let-7c	CLIP-seq
MIRT1375835	hsa-let-7d	CLIP-seq
MIRT1375836	hsa-let-7e	CLIP-seq
MIRT1375837	hsa-let-7f	CLIP-seq
MIRT1375838	hsa-let-7g	CLIP-seq
MIRT1375839	hsa-let-7i	CLIP-seq
MIRT2629044	hsa-miR-1226	CLIP-seq
MIRT1375840	hsa-miR-1243	CLIP-seq
MIRT1375841	hsa-miR-1908	CLIP-seq
MIRT2629046	hsa-miR-29a	CLIP-seq
MIRT2629047	hsa-miR-29b	CLIP-seq
MIRT2629048	hsa-miR-29c	CLIP-seq
MIRT2111756	hsa-miR-3064-5p	CLIP-seq
MIRT1375843	hsa-miR-3065-3p	CLIP-seq
MIRT2440622	hsa-miR-3153	CLIP-seq
MIRT2335042	hsa-miR-3155	CLIP-seq
MIRT2335043	hsa-miR-3155b	CLIP-seq
MIRT2111757	hsa-miR-3652	CLIP-seq
MIRT2629049	hsa-miR-3661	CLIP-seq
MIRT2111758	hsa-miR-3685	CLIP-seq
MIRT1375847	hsa-miR-3689d	CLIP-seq
MIRT1375848	hsa-miR-370	CLIP-seq
MIRT2629052	hsa-miR-4281	CLIP-seq
MIRT2111759	hsa-miR-4286	CLIP-seq
MIRT2111760	hsa-miR-4430	CLIP-seq
MIRT2111761	hsa-miR-4435	CLIP-seq
MIRT1375850	hsa-miR-4458	CLIP-seq
MIRT1375853	hsa-miR-4500	CLIP-seq
MIRT2111762	hsa-miR-4505	CLIP-seq
MIRT2111763	hsa-miR-4643	CLIP-seq
MIRT2111764	hsa-miR-4649-3p	CLIP-seq
MIRT2111765	hsa-miR-466	CLIP-seq
MIRT1375855	hsa-miR-4706	CLIP-seq
MIRT1375857	hsa-miR-4749-5p	CLIP-seq
MIRT2111766	hsa-miR-4760-3p	CLIP-seq
MIRT2111767	hsa-miR-4789-3p	CLIP-seq
MIRT1375858	hsa-miR-4795-5p	CLIP-seq
MIRT2335044	hsa-miR-484	CLIP-seq
MIRT1375861	hsa-miR-520a-5p	CLIP-seq
MIRT1375862	hsa-miR-525-5p	CLIP-seq
MIRT2111768	hsa-miR-544b	CLIP-seq
MIRT1375863	hsa-miR-626	CLIP-seq
MIRT2629056	hsa-miR-631	CLIP-seq
MIRT1375864	hsa-miR-663	CLIP-seq
MIRT1375866	hsa-miR-668	CLIP-seq
MIRT1375867	hsa-miR-759	CLIP-seq
MIRT1375870	hsa-miR-98	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000354	Process	Cis assembly of pre-catalytic spliceosome	IC	9539711
GO:0000388	Process	Spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	IBA
GO:0000388	Process	Spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	IDA	35241646
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	8670905, 29301961
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	30975767
GO:0000398	Process	MRNA splicing, via spliceosome	TAS
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IDA	23045696, 35241646
GO:0003724	Function	RNA helicase activity	IEA
GO:0003724	Function	RNA helicase activity	TAS
GO:0004386	Function	Helicase activity	IDA	9539711
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	9774689, 16723661, 16730941, 17332742, 18951082, 22365833, 22720776, 23704370, 23793891, 27173435, 28514442, 28838205, 32296183, 33961781, 34790668, 35241646, 35271311, 39251607
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	22720776, 29301961
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	30975767
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IBA
GO:0005681	Component	Spliceosomal complex	IDA	8670905
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767
GO:0005682	Component	U5 snRNP	IDA	9539711
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016020	Component	Membrane	HDA	16210410
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030532	Component	Small nuclear ribonucleoprotein complex	IEA
GO:0042802	Function	Identical protein binding	IPI	22365833
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	23793891
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29361316
GO:0071006	Component	U2-type catalytic step 1 spliceosome	IDA	29301961
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
601664	30859	ENSG00000144028

O75643

Protein name

U5 small nuclear ribonucleoprotein 200 kDa helicase (EC 3.6.4.13) (Activating signal cointegrator 1 complex subunit 3-like 1) (BRR2 homolog) (U5 snRNP-specific 200 kDa protein) (U5-200KD)

Protein function

Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome (PubMed:35241646). Plays a role in pre-mRNA splicing as a core component of precatalytic, catalytic and postcata

PDB

2Q0Z , 3JCR , 4F91 , 4F92 , 4F93 , 4KIT , 5O9Z , 5URJ , 5URK , 5URM , 5XJC , 5YZG , 5Z56 , 5Z57 , 5Z58 , 6AH0 , 6AHD , 6FF7 , 6ICZ , 6QDV , 6QW6 , 6QX9 , 6S8O , 6S8Q , 6S9I , 7A5P , 7ABG , 7ABI , 7BDI , 7BDJ , 7BDK , 7BDL , 7DVQ , 7OS1 , 7OS2 , 7PX3 , 7W5B , 8BC8 , 8BC9 , 8BCA , 8BCB , 8BCC , 8BCD , 8BCE , 8BCF , 8BCG , 8BCH , 8C6J , 8CH6 , 8H6E , 8H6J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18149	Helicase_PWI	254 → 363	N-terminal helicase PWI domain	Domain
PF00270	DEAD	482 → 663	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	703 → 860	Helicase conserved C-terminal domain	Family
PF02889	Sec63	981 → 1285	Sec63 Brl domain	Family
PF00270	DEAD	1329 → 1514	DEAD/DEAH box helicase	Domain
PF02889	Sec63	1812 → 2123	Sec63 Brl domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:19878916}.

Sequence

MADVTARSLQYEYKANSNLVLQADRSLIDRTRRDEPTGEVLSLVGKLEGTRMGDKAQRTK
PQMQEERRAKRRKRDEDRHDINKMKGYTLLSEGIDEMVGIIYKPKTKETRETYEVLLSFI
QAALGDQPRDILCGAADEVLAVLKNEKLRDKERRKEIDLLLGQTDDTRYHVLVNLGKKIT
DYGGDKEIQNMDDNIDETYGVNVQFESDEEEGDEDVYGEVREEASDDDMEGDEAVVRCTL
SANLVASGELMSSKKKDLHPRDIDAFWLQRQLSRFYDDAIVSQKKADEVLEILKTASDDR
ECENQLVLLLGFNTFDFIKVLRQHRMMILYCTLLASAQSEAEKERIMGKMEADPELSKFL
YQLHETEKEDLIREERSRRERVRQSRMDTDLETMDLDQGGEALAPRQVLDLEDLVFTQGS
HFMANKRCQLPDGSFRRQRKGYEEVHVPALKPKPFGSEEQLLPVEKLPKYAQAGFEGFKT
LNRIQSKLYRAALETDENLLLCAPTGAGKTNVALMCMLREIGKHINMDGTINVDDFKIIY
IAPMRSLVQEMVGSFGKRLATYGITVAELTGDHQLCKEEISATQIIVCTPEKWDIITRKG
GERTYTQLVRLIILDEIHLLHDDRGPVLEALVARAIRNIEMTQEDVRLIGLSATLPNYED
VATFLRVDPAKGLFYFDNSFRPVPLEQTYVGITEKKAIKRFQIMNEIVYEKIMEHAGKNQ
VLVFVHSRKETGKTARAIRDMCLEKDTLGLFLREGSASTEVLRTEAEQCKNLELKDLLPY
GFAIHHAGMTRVDRTLVEDLFADKHIQVLVSTATLAWGVNLPAHTVIIKGTQVYSPEKGR
WTELGALDILQMLGRAGRPQYDTKGEGILITSHGELQYYLSLLNQQLPIESQMVSKLPDM
LNAEIVLGNVQNAKDAVNWLGYAYLYIRMLRSPTLYGISHDDLKGDPLLDQRRLDLVHTA
ALMLDKNNLVKYDKKTGNFQVTELGRIASHYYITNDTVQTYNQLLKPTLSEIELFRVFSL
SSEFKNITVREEEKLELQKLLERVPIPVKESIEEPSAKINVLLQAFISQLKLEGFALMAD
MVYVTQSAGRLMRAIFEIVLNRGWAQLTDKTLNLCKMIDKRMWQSMCPLRQFRKLPEEVV
KKIEKKNFPFERLYDLNHNEIGELIRMPKMGKTIHKYVHLFPKLELSVHLQPITRSTLKV
ELTITPDFQWDEKVHGSSEAFWILVEDVDSEVILHHEYFLLKAKYAQDEHLITFFVPVFE
PLPPQYFIRVVSDRWLSCETQLPVSFRHLILPEKYPPPTELLDLQPLPVSALRNSAFESL
YQDKFPFFNPIQTQVFNTVYNSDDNVFVGAPTGSGKTICAEFAILRMLLQSSEGRCVYIT
PMEALAEQVYMDWYEKFQDRLNKKVVLLTGETSTDLKLLGKGNIIISTPEKWDILSRRWK
QRKNVQNINLFVVDEVHLIGGENGPVLEVICSRMRYISSQIERPIRIVALSSSLSNAKDV
AHWLGCSATSTFNFHPNVRPVPLELHIQGFNISHTQTRLLSMAKPVYHAITKHSPKKPVI
VFVPSRKQTRLTAIDILTTCAADIQRQRFLHCTEKDLIPYLEKLSDSTLKETLLNGVGYL
HEGLSPMERRLVEQLFSSGAIQVVVASRSLCWGMNVAAHLVIIMDTQYYNGKIHAYVDYP
IYDVLQMVGHANRPLQDDEGRCVIMCQGSKKDFFKKFLYEPLPVESHLDHCMHDHFNAEI
VTKTIENKQDAVDYLTWTFLYRRMTQNPNYYNLQGISHRHLSDHLSELVEQTLSDLEQSK
CISIEDEMDVAPLNLGMIAAYYYINYTTIELFSMSLNAKTKVRGLIEIISNAAEYENIPI
RHHEDNLLRQLAQKVPHKLNNPKFNDPHVKTNLLLQAHLSRMQLSAELQSDTEEILSKAI
RLIQACVDVLSSNGWLSPALAAMELAQMVTQAMWSKDSYLKQLPHFTSEHIKRCTDKGVE
SVFDIMEMEDEERNALLQLTDSQIADVARFCNRYPNIELSYEVVDKDSIRSGGPVVVLVQ
LEREEEVTGPVIAPLFPQKREEGWWVVIGDAKSNSLISIKRLTLQQKAKVKLDFVAPATG
AHNYTLYFMSDAYMGCDQEYKFSVDVKEAETDSDSD

Sequence length

2136

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway

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

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinal dystrophy	Likely pathogenic; Pathogenic	rs527236113, rs267607077, rs2467315273, rs149616320, rs2467349956, rs959069360, rs2063883437, rs556400279, rs2063893838, rs2063918440	RCV001073690 RCV001075824 RCV003890718 RCV003890721 RCV003890731 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs2104355428, rs527236113, rs527236114, rs267607077, rs959069360	RCV001724828 RCV000132669 RCV000132670 RCV000505052 RCV000787717 RCV001003225 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 33	Likely pathogenic; Pathogenic	rs527236113, rs267607077, rs397514574, rs397514575, rs959069360, rs1470798497, rs2063883437	RCV001376490 RCV000008390 RCV000032962 RCV000032963 RCV001002103 RCV001005002 RCV003127619 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant retinitis pigmentosa	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal recessive retinitis pigmentosa	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-cone dystrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SNRNP200-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SNRNP200-related retinal disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stargardt disease	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33939924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29061569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	30315277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31902674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24643059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	33429167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	16612614, 17317632, 21618346, 23045696, 23887765, 24302620, 26968627, 27072132, 27735924, 31260034, 31486839		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	17934474, 19710410, 19878916, 23029027, 23045696, 23887765, 24319334, 24940031, 26720483, 26968627, 27072132, 27735924, 28045043, 31260034, 35138024	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	19878916		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 33	Retinitis pigmentosa	Pubtator	27454487	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 33 (disorder)	Retinitis Pigmentosa	UNIPROT_DG	16723661, 19710410, 19878916, 21618346, 23029027, 23045696, 23887765, 24319334		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 33 (disorder)	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 33 (disorder)	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 33 (disorder)	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200)