Retinitis pigmentosa 60

disease

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Also known as PRPF6 retinitis pigmentosaretinitis pigmentosa caused by mutation in PRPF6retinitis pigmentosa type 60RP60

Summary

Retinitis pigmentosa 60 (MONDO:0013516) is a disease caused by PRPF6 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: PRPF6 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 60
Mondo ID	MONDO:0013516
OMIM	613983
DOID	DOID:0110411
UMLS	C3151434
MedGen	462784
GARD	0015738
Is cancer (heuristic)	no

Also known as: PRPF6 retinitis pigmentosa · retinitis pigmentosa 60 · retinitis pigmentosa caused by mutation in PRPF6 · retinitis pigmentosa type 60 · RP60

Data availability: 9 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › retinitis pigmentosa › retinitis pigmentosa 60

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

9 retrieved; paginated sample, class counts are floors:

8 uncertain significance, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
930523	NM_012469.4(PRPF6):c.1582G>A (p.Ala528Thr)	LOC126863090	Uncertain significance	criteria provided, single submitter
1065749	NM_012469.4(PRPF6):c.2752G>A (p.Asp918Asn)	PRPF6	Uncertain significance	criteria provided, single submitter
31089	NM_012469.4(PRPF6):c.2185C>T (p.Arg729Trp)	PRPF6	Uncertain significance	criteria provided, single submitter
803627	NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr)	PRPF6	Uncertain significance	criteria provided, multiple submitters, no conflicts
930421	NM_012469.4(PRPF6):c.2755A>G (p.Ile919Val)	PRPF6	Uncertain significance	criteria provided, multiple submitters, no conflicts
930600	NM_012469.4(PRPF6):c.1186+13C>G	PRPF6	Uncertain significance	criteria provided, single submitter
931584	NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala)	PRPF6	Uncertain significance	criteria provided, single submitter
975939	NM_012469.4(PRPF6):c.576G>C (p.Gln192His)	PRPF6	Uncertain significance	criteria provided, single submitter
339464	NM_012469.4(PRPF6):c.120A>G (p.Ala40=)	PRPF6	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
PRPF6	Strong	Autosomal dominant	retinitis pigmentosa 60	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PRPF6	Orphanet:791	Retinitis pigmentosa

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PRPF6	HGNC:15860	ENSG00000101161	O94906	Pre-mRNA-processing factor 6	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PRPF6	Pre-mRNA-processing factor 6	Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PRPF6	Other/Unknown	no		HAT, PRP1_N, TPR-like_helical_dom_sf

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cortical plate	1
paraflocculus	1
tendon of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PRPF6	289	ubiquitous	marker	tendon of biceps brachii, cortical plate, paraflocculus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PRPF6	3,188

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PRPF6	O94906	33

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
mRNA Splicing - Minor Pathway	1	223.9×	0.013	PRPF6
mRNA Splicing - Major Pathway	1	54.6×	0.022	PRPF6
Dengue Virus-Host Interactions	1	45.7×	0.022	PRPF6

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
RNA localization	1	8426.0×	8e-04	PRPF6
spliceosomal tri-snRNP complex assembly	1	1123.5×	0.003	PRPF6
RNA splicing, via transesterification reactions	1	624.1×	0.003	PRPF6
spliceosomal complex assembly	1	601.9×	0.003	PRPF6
mRNA splicing, via spliceosome	1	91.6×	0.013	PRPF6
RNA splicing	1	88.2×	0.013	PRPF6
positive regulation of transcription by RNA polymerase II	1	14.9×	0.067	PRPF6

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PRPF6	1	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOLIBRESIB	2	PRPF6

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PRPF6	8	Binding:8

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

1 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
MOLIBRESIB	2	PRPF6

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	PRPF6
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: PRPF6