PRPF31

Summary

PRPF31 (pre-mRNA processing factor 31, HGNC:15446) is a protein-coding gene on chromosome 19q13.42, encoding U4/U6 small nuclear ribonucleoprotein Prp31 (Q8WWY3). Involved in pre-mRNA splicing as component of the spliceosome. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.

Source: NCBI Gene 26121 — RefSeq curated summary.

At a glance

• Gene–disease (curated): PRPF31-related retinopathy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 30
• Clinical variants (ClinVar): 834 total — 188 pathogenic, 83 likely-pathogenic
• Phenotypes (HPO): 39
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_015629

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15446
Approved symbol	PRPF31
Name	pre-mRNA processing factor 31
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	NY-BR-99, PRP31, hPrp31, SNRNP61
Ensembl gene	ENSG00000105618
Ensembl biotype	protein_coding
OMIM	606419
Entrez	26121

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 15 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000321030, ENST00000391755, ENST00000419967, ENST00000445124, ENST00000445811, ENST00000447810, ENST00000466404, ENST00000467851, ENST00000498612, ENST00000861421, ENST00000861422, ENST00000861423, ENST00000861424, ENST00000861425, ENST00000929488, ENST00000929489, ENST00000929490, ENST00000951323

RefSeq mRNA: 1 — MANE Select: NM_015629 NM_015629

CCDS: CCDS12879

Canonical transcript exons

ENST00000321030 — 14 exons

Exon	Start	End
ENSE00000856128	54118271	54118455
ENSE00000954006	54128305	54128377
ENSE00001281305	54129057	54129185
ENSE00001281426	54128073	54128200
ENSE00001598781	54115754	54115797
ENSE00003460364	54124499	54124656
ENSE00003462687	54118573	54118633
ENSE00003481197	54126528	54126617
ENSE00003581923	54123749	54123918
ENSE00003608753	54122497	54122594
ENSE00003658725	54123454	54123560
ENSE00003674247	54121860	54121943
ENSE00003680540	54129272	54129370
ENSE00003841831	54131307	54131713

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 94.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.6206 / max 302.5516, expressed in 1817 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177467	31.6206	1817

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	94.81	gold quality
granulocyte	CL:0000094	93.99	gold quality
ventricular zone	UBERON:0003053	93.70	gold quality
ganglionic eminence	UBERON:0004023	93.56	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.42	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.40	gold quality
lower esophagus	UBERON:0013473	93.39	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.36	gold quality
placenta	UBERON:0001987	93.31	gold quality
body of uterus	UBERON:0009853	93.30	gold quality
apex of heart	UBERON:0002098	93.13	gold quality
right ovary	UBERON:0002118	93.11	gold quality
popliteal artery	UBERON:0002250	93.06	gold quality
tibial artery	UBERON:0007610	93.06	gold quality
endocervix	UBERON:0000458	93.03	gold quality
fundus of stomach	UBERON:0001160	93.03	gold quality
left adrenal gland cortex	UBERON:0035825	92.93	gold quality
right adrenal gland	UBERON:0001233	92.92	gold quality
left adrenal gland	UBERON:0001234	92.89	gold quality
left ovary	UBERON:0002119	92.86	gold quality
monocyte	CL:0000576	92.76	gold quality
skin of leg	UBERON:0001511	92.76	gold quality
right adrenal gland cortex	UBERON:0035827	92.76	gold quality
ovary	UBERON:0000992	92.75	gold quality
leukocyte	CL:0000738	92.73	gold quality
right lobe of thyroid gland	UBERON:0001119	92.70	gold quality
body of stomach	UBERON:0001161	92.69	gold quality
ectocervix	UBERON:0012249	92.68	gold quality
right uterine tube	UBERON:0001302	92.65	gold quality
gastrocnemius	UBERON:0001388	92.65	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.19
E-MTAB-7606	no	957.32
E-MTAB-6911	no	618.26

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CNOT3

miRNA regulators (miRDB)

8 targeting PRPF31, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-4669	97.94	62.71	224
HSA-MIR-6762-5P	96.55	64.62	972
HSA-MIR-6845-5P	96.55	64.65	969
HSA-MIR-4264	96.35	64.76	1480
HSA-MIR-3657	96.33	66.29	608

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. (PMID:11867543)
• Two missense mutations in PRPF31 (A194E and A216P) linked to autosomal dominant retinitis pigmentosa substantially hinder translocation of PRPF31 into the nucleus. (PMID:12444105)
• Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population. (PMID:12714658)
• Deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa (PMID:12923864)
• Partial penetrance in RP11 could be due to the coinheritance of a PRPF31 gene defect and a low-expressed wild-type allele (PMID:14507862)
• A novel splicing mutation (IVS5-1G>A) in the pre-mRNA splicing-factor gene PRPF31 causes retinitis pigmentosa in a large Chinese family. The mutation results in a truncated protein of PRPF31. (PMID:15162096)
• in the absence of either hPrp31 or hPrp6, U4/U6 di-snRNPs as well as p110 accumulate in Cajal bodies (PMID:15257298)
• Our results demonstrate that mutations in PRPF31 gene affect rhodopsin (RHO) pre-mRNA splicing and reveal a link between PRPF31 and RHO, two major genes in autosomal dominant retinitis pigmentosa. (PMID:15659613)
• A novel splice site mutation in the PRPF31 gene caused retinitis pigmentosa (RP) in the four-generation Chinese RP family. (PMID:15924690)
• The 1142delG and 1155-1159delGGACG/insAGGGATT mutations in the PRPF31 gene cause RP. (PMID:16139010)
• Data demonstrate that His-tagged PRPF31 interacts with importin beta1 for translocation to the nucleus, with no requirement for importin alpha1. (PMID:16427773)
• This mutation provides evidence that haploinsufficiency rather than aberrant function of mutated proteins is cause of disease in these adRP patients with mutations in PRPF31 gene. (PMID:16636657)
• We describe a novel PRPF31 mutation and present the first case of a homozygous mutation in the RPGR gene in a female individual. (PMID:16917484)
• MLPA (multiplex ligation-dependent probe amplification) was used to identify genomic rearrangements in PRPF31 in five families, suggesting a frequency of approximately 2.5%. (PMID:17003455)
• Although the frequency of mutations in the PRPF31 gene is about 2.5% in Japanese families with adRP, it is possible that c.1142delG is a common mutation among Japanese patients with adRP associated with mutations in the PRPF31 gene. (PMID:17295140)
• Mutations in PRPF31 causing adRP (autosomal dominant retinitis pigmentosa) were present in nearly 5% of a mixed U.K. population. (PMID:17325180)
• structural and biochemical analyses of hPrp31-15.5K-U4 snRNA complexes show how the conserved Nop domain in hPrp31 maintains high RNP binding selectivity despite relaxed RNA sequence requirements (PMID:17412961)
• a new mutation in the PRPF31 gene is described, together with the clinical phenotype of dominant retinitis pigmentosa (PMID:17895420)
• Our studies identify a novel splicing mutation in PRPF31 associated with adRP and suggest that the penetrance of RP11 mutations may be correlated with the expression level of the PRPF31 mRNA. (PMID:18177735)
• pathogenic effect of PRPF31 mutations is likely due to haploinsufficiency rather than to gain of function (PMID:18317597)
• The RP11 missense mutations exert their pathology mainly via a mechanism based on protein insufficiency due to protein insolubility, but there is also a minor direct negative effect on function. (PMID:18431455)
• RHO, PRPF31, RP1, and IMPDH1 were screened and causative mutations were identifiedin 4% of isolated and 2% of autosomal dominant forms of retinitis pigmentosa patients from India. (PMID:18552984)
• PRPF31 mRNA expression and consequently the penetrance of PRPF31 mutations is managed by diffusible compounds encoded by at least two modifiers, acting in a co-regulatory system on both PRPF31 alleles during transcription. (PMID:18640990)
• The aim of this study was to use lymphoblast cell lines derived from retinitis pigmentosa patients to determine whether mutations in two of these splicing factors, PRPF8 and PRPF31, cause measurable deficiencies in pre-mRNA splicing. (PMID:19096719)
• Ala216Pro mutation destabilizes the hPrp31 protein structure and reduces its interaction with snRNP binding. (PMID:19293337)
• Our results show that the retina-restricted phenotype caused by PRPF31 mutations cannot be explained by the presence of tissue-specific isoforms, or by differential expression of PRPF31 in the retina. (PMID:19373678)
• Mutations in PRPF31, RHO, and PRPH2 were found in low frequencies (1 of 9 autosomal dominant RP families) in Chinese patients, and the PRPF31 and PRPH2 truncating mutations were novel. (PMID:19506198)
• The results imply that Prpf31 is necessary for survival, and there is no compensation mechanism in mouse for the lack of this splicing factor (PMID:19578015)
• The authors provide evidence that PRP6 and PRP31 are directly phosphorylated by human PRP4 kinase (PRP4K) concomitant with their incorporation into B complexes. (PMID:20118938)
• extended the mutation spectrum of PRPF31 and as previously reported in other populations, it is a major cause of autosomal dominant rod-cone dystrophy in France. (PMID:20939871)
• RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. In cells with PRPF31 mutations there was no lymphoblasts with PRPF31 mutations correctly assembled tri-snRNPs, but in a less efficient manner compared with controls. (PMID:21378395)
• CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31 (PMID:21385873)
• This study describes two large deletions, one in a previously reported family and one in a new family: the latter represents the largest deletion yet described on chromosome 19 and the first report of the involvement of VSTM-1. (PMID:21715351)
• Characterization of the core promoters controlling the expression of PRPF31 and TFPT, a bi-directional gene-pair. (PMID:22723017)
• The present study describes mapping of a locus for non-syndromic adRP at 19q13.42 (RP11 locus) in a family of Indian origin and identifies a novel deletion, c.59_65del7, in PRPF31 within the mapped interval. (PMID:23041261)
• In asymptomatic carriers CNOT3 is expressed at low levels, allowing higher amounts of wild-type PRPF31 transcripts to be produced and preventing manifestation of retinal degeneration. (PMID:23144630)
• Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients occur at a relatively high frequency. (PMID:23288994)
• The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene. (PMID:23343310)
• A PRPF31 mutation was identified to be responsible for adRP in a large Chinese family. Our findings expand the mutation spectrum of RP in the Chinese population. (PMID:23834559)
• A mutation in PRPF31 is hypostatic to a trait acting on CNOT3, with the RP11 phenotype only being observed when there is homozygous (recessive) inheritance of the higher expressivity CNOT3 (“symptomatic” or risk) allele. (PMID:24116917)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	prpf31	ENSDARG00000095904
mus_musculus	Prpf31	ENSMUSG00000008373
rattus_norvegicus	Prpf31	ENSRNOG00000061039
drosophila_melanogaster	Prp31	FBGN0036487
caenorhabditis_elegans	prp-31	WBGENE00022458

Protein

Protein identifiers

U4/U6 small nuclear ribonucleoprotein Prp31 — Q8WWY3 (reviewed: Q8WWY3)

Alternative names: Pre-mRNA-processing factor 31, Serologically defined breast cancer antigen NY-BR-99, U4/U6 snRNP 61 kDa protein

All UniProt accessions (5): Q8WWY3, E7EN72, E7ESX0, E7EU94, E7EVX8

UniProt curated annotations — full annotation on UniProt →

Function. Involved in pre-mRNA splicing as component of the spliceosome. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.

Subunit / interactions. Identified in the spliceosome B complex. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Interacts with a complex formed by SNU13 and U4 snRNA, but not with SNU13 or U4 snRNA alone. The complex formed by SNU13 and PRPF31 also binds U4atac snRNA, a characteristic component of specific, less abundant spliceosomal complexes. Interacts with PRPF6/U5 snRNP-associated 102 kDa protein. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BACC1, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts (via its NLS) with CTNNBL1. Interacts with USH1G.

Subcellular location. Nucleus. Nucleus speckle. Cajal body.

Tissue specificity. Ubiquitously expressed.

Post-translational modifications. Phosphorylated by PRP4K during spliceosome assembly.

Disease relevance. Retinitis pigmentosa 11 (RP11) [MIM:600138] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Interacts with the snRNP via the Nop domain. The coiled coil domain is formed by two non-contiguous helices.

Similarity. Belongs to the PRP31 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8WWY3-1	1	yes
Q8WWY3-2	2
Q8WWY3-3	3
Q8WWY3-4	4

RefSeq proteins (1): NP_056444* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002687	Nop_dom	Domain
IPR012976	NOSIC	Domain
IPR019175	Prp31_C	Domain
IPR027105	Prp31	Family
IPR036070	Nop_dom_sf	Homologous_superfamily
IPR042239	Nop_C	Homologous_superfamily

Pfam: PF01798, PF09785

UniProt features (65 total): helix 20, modified residue 8, site 5, splice variant 5, strand 5, turn 4, sequence variant 3, sequence conflict 3, region of interest 2, cross-link 2, mutagenesis site 2, coiled-coil region 2, chain 1, domain 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

30 structures.

PDB	Method	Resolution (Å)
2OZB	X-RAY DIFFRACTION	2.6
8H6L	ELECTRON MICROSCOPY	2.6
3SIU	X-RAY DIFFRACTION	2.63
8H6K	ELECTRON MICROSCOPY	2.7
6QW6	ELECTRON MICROSCOPY	2.92
8Q7N	ELECTRON MICROSCOPY	3.1
8QOZ	ELECTRON MICROSCOPY	3.1
8QPE	ELECTRON MICROSCOPY	3.1
8H6E	ELECTRON MICROSCOPY	3.2
8H6J	ELECTRON MICROSCOPY	3.25
6QX9	ELECTRON MICROSCOPY	3.28
3SIV	X-RAY DIFFRACTION	3.3
8Y6O	ELECTRON MICROSCOPY	3.38
8QP8	ELECTRON MICROSCOPY	3.5
8QPA	ELECTRON MICROSCOPY	3.7
8QPB	ELECTRON MICROSCOPY	3.7
6AHD	ELECTRON MICROSCOPY	3.8
8QP9	ELECTRON MICROSCOPY	4.1
8QZS	ELECTRON MICROSCOPY	4.1
8QPK	ELECTRON MICROSCOPY	4.2
8R09	ELECTRON MICROSCOPY	4.3
8R0B	ELECTRON MICROSCOPY	4.4
5O9Z	ELECTRON MICROSCOPY	4.5
8QO9	ELECTRON MICROSCOPY	5.29
6AH0	ELECTRON MICROSCOPY	5.7
8R0A	ELECTRON MICROSCOPY	5.8
8R08	ELECTRON MICROSCOPY	6.1
8RM5	ELECTRON MICROSCOPY	6.9
3JCR	ELECTRON MICROSCOPY	7
8QXD	ELECTRON MICROSCOPY	9.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WWY3-F1	77.69	0.32

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (5): 289 (interaction with u4atac snrna); 293 (interaction with u4 snrna and u4atac snrna); 298 (interaction with u4 snrna and u4atac snrna); 247 (interaction with u4 snrna); 270 (interaction with u4 snrna and u4atac snrna)

Post-translational modifications (10): 379, 395, 432, 438, 439, 440, 450, 455, 471, 478

Mutagenesis-validated functional residues (2):

Position	Phenotype
270	reduces binding to the complex formed by u4 snrna and snu13.
351–364	abolishes nuclear localization.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway

MSigDB gene sets: 275 (showing top): RRAGTTGT_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MORF_HDAC2, GOBP_SPLICEOSOMAL_TRI_SNRNP_COMPLEX_ASSEMBLY, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, CHEN_HOXA5_TARGETS_6HR_DN, MORF_BUB3, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, MORF_PRKDC, LIAO_METASTASIS, REACTOME_MRNA_SPLICING, AACTTT_UNKNOWN, CREB_Q3

GO Biological Process (5): spliceosomal tri-snRNP complex assembly (GO:0000244), mRNA splicing, via spliceosome (GO:0000398), ribonucleoprotein complex localization (GO:0071166), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (8): RNA binding (GO:0003723), U4 snRNA binding (GO:0030621), U4atac snRNA binding (GO:0030622), protein-macromolecule adaptor activity (GO:0030674), identical protein binding (GO:0042802), ribonucleoprotein complex binding (GO:0043021), snRNP binding (GO:0070990), protein binding (GO:0005515)

GO Cellular Component (14): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U2-type spliceosomal complex (GO:0005684), U4 snRNP (GO:0005687), U4atac snRNP (GO:0005690), Cajal body (GO:0015030), nuclear speck (GO:0016607), U4/U6 x U5 tri-snRNP complex (GO:0046540), U2-type precatalytic spliceosome (GO:0071005), precatalytic spliceosome (GO:0071011), MLL1 complex (GO:0071339), spliceosomal tri-snRNP complex (GO:0097526), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
mRNA Splicing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
spliceosomal snRNP complex	3
RNA processing	2
snRNA binding	2
protein binding	2
spliceosomal complex	2
nuclear ribonucleoprotein granule	2
spliceosomal snRNP assembly	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
cellular localization	1
mRNA metabolic process	1
nucleic acid binding	1
molecular adaptor activity	1
protein-containing complex binding	1
ribonucleoprotein complex binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
U5 snRNP	1
U4/U6 snRNP	1
spliceosomal tri-snRNP complex	1
U2-type spliceosomal complex	1
U1 snRNP	1
U2 snRNP	1
U4/U6 x U5 tri-snRNP complex	1
precatalytic spliceosome	1
MLL1/2 complex	1
protein-containing complex	1

Protein interactions and networks

STRING

2040 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRPF31	PRPF6	O94906	996
PRPF31	PRPF3	O43395	993
PRPF31	SNU13	P55769	993
PRPF31	PRPF8	Q6P2Q9	982
PRPF31	SNRNP200	O75643	955
PRPF31	PRPF4	O43172	947
PRPF31	RP9	Q8TA86	897
PRPF31	EFTUD2	Q15029	844
PRPF31	EYS	Q5T1H1	841
PRPF31	TFPT	P0C1Z6	839
PRPF31	FSCN2	O14926	838
PRPF31	RPGR	Q92834	824
PRPF31	IMPDH1	P20839	806
PRPF31	PRPH2	P23942	800
PRPF31	TOPORS	Q9NS56	800

IntAct

775 interactions, top by confidence:

A	B	Type	Score
TFIP11	PRPF31	psi-mi:“MI:0915”(physical association)	0.890
PRPF31	TFIP11	psi-mi:“MI:0915”(physical association)	0.890
PRPF31	GOLGA2	psi-mi:“MI:0915”(physical association)	0.860
MKRN3	PRPF31	psi-mi:“MI:0915”(physical association)	0.860
PNMA1	PRPF31	psi-mi:“MI:0915”(physical association)	0.860
GOLGA2	PRPF31	psi-mi:“MI:0915”(physical association)	0.860
PRPF31	MKRN3	psi-mi:“MI:0915”(physical association)	0.860
PRPF31	PNMA1	psi-mi:“MI:0915”(physical association)	0.860
LDOC1	PRPF31	psi-mi:“MI:0915”(physical association)	0.850
PRPF31	KCTD6	psi-mi:“MI:0915”(physical association)	0.850
KCTD6	PRPF31	psi-mi:“MI:0915”(physical association)	0.850
PRPF31	LDOC1	psi-mi:“MI:0915”(physical association)	0.850
PSTPIP1	PRPF31	psi-mi:“MI:0915”(physical association)	0.810
PRPF31	KRT15	psi-mi:“MI:0915”(physical association)	0.810
PRPF31	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.810
PRPF31	RBMY1F	psi-mi:“MI:0915”(physical association)	0.810

BioGRID (612): PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid), PRPF31 (Two-hybrid)

ESM2 similar proteins: A0A1D8PEY9, A5ELN1, A8WQ43, A8XJ93, G0SHQ2, O01692, O42984, O44081, O60870, O80929, P02407, P0C0W9, P13732, P14127, P16168, P17704, P27770, P42520, P42922, P46222, P49205, P49215, Q08DS5, Q19162, Q3E757, Q4MYY1, Q5BLF0, Q5RC82, Q5U5C5, Q6CSP9, Q6FTK4, Q6GNS3, Q6NVP6, Q6P2Z6, Q758S7, Q7SXM7, Q8CCF0, Q8K339, Q8WWY3, Q94300

Diamond homologs: A5DHW0, O42904, P49704, Q5U5C5, Q6NVP6, Q7SXM7, Q8CCF0, Q8RXN6, Q8WWY3, A1CL70, A1D688, A2QE38, A3LUT0, A5E4V9, A6QYH8, A6RMY5, A6ZPE5, A7F2R6, A7TIF5, O00567, O04656, O04658, O94514, P0CP26, P0CP27, Q0CQH1, Q12460, Q12499, Q1E1Q5, Q21276, Q2UC04, Q3SZ63, Q4PBF2, Q4R779, Q4WYK9, Q54MT2, Q55FI4, Q58105, Q59S06, Q5B8G3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PRPF31	“form complex”	“U4/U6.U5 snRNP complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 83 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Metabolism of non-coding RNA	5	66.1×	6e-07
SARS-CoV-2 modulates host translation machinery	6	28.0×	3e-06
mRNA Splicing - Minor Pathway	5	23.3×	7e-05
snRNP Assembly	5	22.0×	8e-05
mRNA Splicing	9	20.6×	3e-08
Processing of Capped Intron-Containing Pre-mRNA	10	17.1×	3e-08
SARS-CoV-2-host interactions	6	14.9×	8e-05
mRNA Splicing - Major Pathway	12	13.7×	1e-08

GO biological processes:

GO term	Partners	Fold	FDR
U2-type prespliceosome assembly	5	46.6×	6e-06
spliceosomal snRNP assembly	5	43.4×	7e-06
mRNA splicing, via spliceosome	12	16.4×	3e-09
RNA splicing	9	11.8×	6e-06
cilium assembly	7	7.7×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

834 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	188
Likely pathogenic	83
Uncertain significance	252
Likely benign	199
Benign	32

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1076118	NM_015629.4(PRPF31):c.797C>A (p.Ser266Ter)	Pathogenic
1172723	NM_015629.4(PRPF31):c.176del (p.Met59fs)	Pathogenic
1209971	NM_015629.4(PRPF31):c.178-1G>A	Pathogenic
1275773	NM_015629.4(PRPF31):c.358_359del (p.Lys120fs)	Pathogenic
1351673	NM_015629.4(PRPF31):c.23T>G (p.Leu8Ter)	Pathogenic
1355432	NM_015629.4(PRPF31):c.866_879del (p.Arg289fs)	Pathogenic
1356686	NM_015629.4(PRPF31):c.856-2A>G	Pathogenic
1363574	NM_015629.4(PRPF31):c.421-1G>A	Pathogenic
1363584	NM_015629.4(PRPF31):c.323-2A>G	Pathogenic
1364976	NM_015629.4(PRPF31):c.343del (p.Arg115fs)	Pathogenic
1368983	NM_015629.4(PRPF31):c.549_553del (p.Leu184fs)	Pathogenic
1370649	NC_000019.9:g.(?54621004)(54625231_?)del	Pathogenic
1380400	NM_015629.4(PRPF31):c.152_158del (p.Ile51fs)	Pathogenic
1380627	NM_015629.4(PRPF31):c.256_268del (p.Ala86fs)	Pathogenic
1388203	NM_015629.4(PRPF31):c.1193del (p.His398fs)	Pathogenic
1389075	NM_015629.4(PRPF31):c.639del (p.Phe214fs)	Pathogenic
1391980	NC_000019.9:g.(?54621659)(54632765_?)del	Pathogenic
1392037	NM_015629.4(PRPF31):c.349A>T (p.Lys117Ter)	Pathogenic
1399844	NM_015629.4(PRPF31):c.1118_1143del (p.Lys373fs)	Pathogenic
1405853	NM_015629.4(PRPF31):c.528-1G>A	Pathogenic
1409373	NM_015629.4(PRPF31):c.1121_1137del (p.Gln374fs)	Pathogenic
1410545	NM_015629.4(PRPF31):c.455del (p.Asn152fs)	Pathogenic
1416170	NM_015629.4(PRPF31):c.177+1del	Pathogenic
1416219	NM_015629.4(PRPF31):c.616G>T (p.Glu206Ter)	Pathogenic
1416229	NM_015629.4(PRPF31):c.828_829del (p.His276fs)	Pathogenic
1423706	NM_015629.4(PRPF31):c.415del (p.Val139fs)	Pathogenic
1424542	NM_015629.4(PRPF31):c.1067del (p.Gly356fs)	Pathogenic
1427987	NM_015629.4(PRPF31):c.1212del (p.Ser404fs)	Pathogenic
143149	NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter)	Pathogenic
1436589	NM_015629.4(PRPF31):c.1153G>T (p.Glu385Ter)	Pathogenic

SpliceAI

2257 predictions. Top by Δscore:

Variant	Effect	Δscore
19:54115795:GAG:G	donor_gain	1.0000
19:54115799:T:A	donor_loss	1.0000
19:54118438:C:G	donor_gain	1.0000
19:54118448:G:GG	donor_gain	1.0000
19:54118452:GATG:G	donor_gain	1.0000
19:54118456:G:GG	donor_gain	1.0000
19:54118456:GTAAG:G	donor_loss	1.0000
19:54118457:T:A	donor_loss	1.0000
19:54118568:TACA:T	acceptor_loss	1.0000
19:54118569:ACAG:A	acceptor_loss	1.0000
19:54118570:CAGT:C	acceptor_loss	1.0000
19:54118571:A:AG	acceptor_gain	1.0000
19:54118571:A:C	acceptor_loss	1.0000
19:54118571:AGTTT:A	acceptor_gain	1.0000
19:54118572:G:GT	acceptor_gain	1.0000
19:54118572:GT:G	acceptor_gain	1.0000
19:54118572:GTT:G	acceptor_gain	1.0000
19:54118572:GTTT:G	acceptor_gain	1.0000
19:54118572:GTTTG:G	acceptor_gain	1.0000
19:54118629:AGAAG:A	donor_loss	1.0000
19:54118630:GAAG:G	donor_gain	1.0000
19:54118630:GAAGG:G	donor_loss	1.0000
19:54118631:AAGG:A	donor_loss	1.0000
19:54118632:AGG:A	donor_loss	1.0000
19:54118633:GG:G	donor_loss	1.0000
19:54118635:T:G	donor_loss	1.0000
19:54121855:CACA:C	acceptor_loss	1.0000
19:54121856:ACAGT:A	acceptor_gain	1.0000
19:54121857:C:G	acceptor_gain	1.0000
19:54121857:CAG:C	acceptor_loss	1.0000

AlphaMissense

3258 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:54118298:T:C	L7P	1.000
19:54118303:G:C	A9P	1.000
19:54121889:T:C	Y90H	1.000
19:54121890:A:G	Y90C	1.000
19:54121899:T:A	I93N	1.000
19:54121907:G:C	A96P	1.000
19:54121908:C:A	A96D	1.000
19:54121912:C:A	N97K	1.000
19:54121912:C:G	N97K	1.000
19:54121917:T:C	L99P	1.000
19:54122518:G:C	R115P	1.000
19:54122537:A:C	R121S	1.000
19:54122537:A:T	R121S	1.000
19:54122538:T:C	F122L	1.000
19:54122538:T:G	F122V	1.000
19:54122539:T:C	F122S	1.000
19:54122539:T:G	F122C	1.000
19:54122540:C:A	F122L	1.000
19:54122540:C:G	F122L	1.000
19:54122548:T:A	L125Q	1.000
19:54122548:T:C	L125P	1.000
19:54122557:T:G	L128W	1.000
19:54122560:T:A	V129D	1.000
19:54122590:T:A	V139D	1.000
19:54123458:T:C	L142P	1.000
19:54123509:T:A	L159H	1.000
19:54123509:T:C	L159P	1.000
19:54123518:C:A	A162D	1.000
19:54123527:T:A	M165K	1.000
19:54123527:T:C	M165T	1.000

dbSNP variants (sampled 300 via entrez): RS1000143142 (19:54117637 A>T), RS1000244327 (19:54122662 C>G), RS1000396676 (19:54127088 C>G), RS1000854552 (19:54130224 A>G), RS1001655181 (19:54118127 C>A,G), RS1001790869 (19:54122941 G>A), RS1002127843 (19:54121985 C>T), RS1002309673 (19:54126278 G>A), RS1002644433 (19:54126435 G>A,C,T), RS1003066262 (19:54119343 C>T), RS1003206797 (19:54131968 C>T), RS1003306674 (19:54128504 C>A,T), RS1003716893 (19:54127223 G>A), RS1003853352 (19:54114362 G>A,T), RS1004026391 (19:54120115 T>C)

Disease associations

OMIM: gene MIM:606419 | disease phenotypes: MIM:600138, MIM:268000, MIM:120970, MIM:204000

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 11	Definitive	Autosomal dominant
retinitis pigmentosa	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
PRPF31-related retinopathy	Definitive	AD

Mondo (6): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa 11 (MONDO:0010828), retinitis pigmentosa (MONDO:0019200), cone-rod dystrophy (MONDO:0015993), Leber congenital amaurosis (MONDO:0018998), retinal disorder (MONDO:0005283)

Orphanet (4): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791), Cone rod dystrophy (Orphanet:1872), Leber congenital amaurosis (Orphanet:65)

HPO phenotypes

39 total (30 of 39 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000608	Macular degeneration
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
HP:0003829	Typified by incomplete penetrance
HP:0007401	Macular atrophy
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007703	Abnormal retinal pigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0007787	Posterior subcapsular cataract
HP:0007843	Attenuation of retinal blood vessels
HP:0007994	Peripheral visual field loss

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST005753_1	Change in HbA1c levels in response to metformin treatment in type 2 diabetes	4.000000e-07
GCST011379_3	Cutaneous mastocytosis (childhood)	7.000000e-14
GCST011381_5	Cutaneous mastocytosis	5.000000e-17
GCST011382_8	Systemic mastocytosis	2.000000e-08
GCST011383_2	Mastocytosis	9.000000e-24
GCST011656_2	Lung cancer	5.000000e-07
GCST012354_10	Anxiety	2.000000e-18
GCST012354_11	Anxiety	8.000000e-11
GCST012354_13	Anxiety	2.000000e-07
GCST012354_29	Anxiety	1.000000e-13
GCST012354_35	Anxiety	1.000000e-09
GCST012354_39	Anxiety	2.000000e-14
GCST012354_52	Anxiety	5.000000e-12
GCST012354_53	Anxiety	1.000000e-11
GCST012354_54	Anxiety	1.000000e-06
GCST012355_14	Depression	4.000000e-10
GCST012355_20	Depression	5.000000e-13
GCST012355_31	Depression	1.000000e-45
GCST012355_38	Depression	8.000000e-14
GCST012355_42	Depression	7.000000e-09
GCST012355_46	Depression	4.000000e-14
GCST90006890_3	Chlamydia trachomatis PorB antibody levels	3.000000e-08
GCST90006915_1	Helicobacter pylori UREA antibody levels	3.000000e-08
GCST90006927_2	Toxoplasma gondii sag1 antibody levels	9.000000e-10
GCST90006929_4	Varicella zoster virus glycoproteins E and I antibody levels	6.000000e-14
GCST90012857_1	Falling risk	4.000000e-08
GCST90093325_12	Language functional connectivity	6.000000e-16
GCST90093325_13	Language functional connectivity	1.000000e-08
GCST90093325_15	Language functional connectivity	1.000000e-31
GCST90093325_19	Language functional connectivity	6.000000e-14

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004541	HbA1c measurement
EFO:0009863	anxiety measurement
EFO:0009352	Anti-Helicobacter pylori IgG measurement
EFO:0009353	Anti-Toxoplasma gondii IgG measurement
EFO:0009351	Anti-varicella zoster virus IgG measurement
EFO:0007797	language measurement

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C563991	Retinitis Pigmentosa 11 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725165 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs254271	Efficacy	3	metformin	Diabetes Mellitus;Type 2

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs254271	PRPF31	3	0.00	1	metformin

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.92	IC50	120	nM	MOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 6 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178703: Inhibition of PRPF31 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.1200	uM

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
coumarin	decreases phosphorylation	1
yessotoxin	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
ICG 001	decreases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
PP242	increases expression	1
bisphenol AF	increases expression	1
Arsenic	affects methylation	1
Vehicle Emissions	affects expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Caffeine	decreases phosphorylation	1
Ethyl Methanesulfonate	decreases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Phthalic Acids	increases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases methylation	1
Particulate Matter	affects expression, increases abundance	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697433	Binding	Inhibition of PRPF31 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Cellosaurus cell lines

11 cell lines: 10 induced pluripotent stem cell, 1 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_9S37	UNEWi001-A	Induced pluripotent stem cell	Female
CVCL_9S38	UNEWi002-A	Induced pluripotent stem cell	Female
CVCL_9S39	UNEWi004-A	Induced pluripotent stem cell	Male
CVCL_9S40	UNEWi005-A	Induced pluripotent stem cell	Male
CVCL_C7LK	GM27987	Finite cell line	Male
CVCL_E3V2	ESi132-A	Induced pluripotent stem cell	Female
CVCL_IU00	UNEWi027-A	Induced pluripotent stem cell	Female
CVCL_QY74	IDVi002-A	Induced pluripotent stem cell	Male
CVCL_UJ71	ESi077-A	Induced pluripotent stem cell	Female
CVCL_UK23	LEIi008-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

259 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
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