Hypotrichosis 11

Summary

Hypotrichosis 11 (MONDO:0014027) is a disease caused by SNRPE (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: SNRPE (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hypotrichosis 11
Mondo ID	MONDO:0014027
OMIM	615059
DOID	DOID:0110708
UMLS	C3554409
MedGen	767323
GARD	0015900
Is cancer (heuristic)	no

Also known as: hypotrichosis 11 · hypotrichosis caused by mutation in SNRPE · hypotrichosis type 11 · HYPT11 · hypt11 · SNRPE hypotrichosis

Data availability: 5 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › disorder of pilosebaceous unit › hypotrichosis › hypotrichosis 11

Related subtypes (18): hypotrichosis of eyelid, hypotrichosis 2, hypotrichosis 8, congenital hypotrichosis with juvenile macular dystrophy, hypotrichosis 7, hypotrichosis 1, hypotrichosis 6, hypotrichosis 3, hypotrichosis 9, hypotrichosis 10, hypotrichosis 12, hypotrichosis 13, Marie Unna hereditary hypotrichosis, Basaran Yilmaz syndrome, congenital hypotrichosis milia, hypotrichosis 14, hypotrichosis 15, hypotrichosis 16

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

5 retrieved; paginated sample, class counts are floors:

3 pathogenic, 1 uncertain significance, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
3066047	NM_003094.4(SNRPE):c.54+2T>A	LOC112577531	Pathogenic	no assertion criteria provided
3066048	NM_003094.4(SNRPE):c.221T>C (p.Leu74Pro)	SNRPE	Pathogenic	no assertion criteria provided
39506	NM_003094.4(SNRPE):c.133G>A (p.Gly45Ser)	SNRPE	Pathogenic	no assertion criteria provided
39505	NM_003094.4(SNRPE):c.1A>G (p.Met1Val)	LOC112577531	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3038971	NM_003094.4(SNRPE):c.54+219C>T	SNRPE	Uncertain significance	criteria provided, single submitter

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
SNRPE	Strong	Autosomal dominant	hypotrichosis 11	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SNRPE	Orphanet:55654	Hypotrichosis simplex

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
SNRPE	HGNC:11161	ENSG00000182004	P62304	Small nuclear ribonucleoprotein E	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SNRPE	Small nuclear ribonucleoprotein E	Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), 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)
SNRPE	Other/Unknown	no		Sm_dom_euk/arc, LSM_dom_sf, snRNP-E

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
ganglionic eminence	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SNRPE	175	ubiquitous	marker	ganglionic eminence, ventricular zone, cortical plate

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SNRPE	719

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SNRPE	P62304	84

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 23. 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
SLBP independent Processing of Histone Pre-mRNAs	1	1142.0×	0.007	SNRPE
Processing of Capped Intronless Pre-mRNA	1	1038.2×	0.007	SNRPE
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs	1	1038.2×	0.007	SNRPE
Metabolism of non-coding RNA	1	634.4×	0.009	SNRPE
mRNA Splicing - Minor Pathway	1	223.9×	0.014	SNRPE
SARS-CoV-2 modulates host translation machinery	1	223.9×	0.014	SNRPE
RNA Polymerase II Transcription Termination	1	219.6×	0.014	SNRPE
snRNP Assembly	1	211.5×	0.014	SNRPE
SARS-CoV-2-host interactions	1	119.0×	0.019	SNRPE
mRNA Splicing	1	109.8×	0.019	SNRPE
CHD1 and CHD2 subfamily	1	108.8×	0.019	SNRPE
mRNA Polyadenylation	1	87.8×	0.020	SNRPE
Processing of Capped Intron-Containing Pre-mRNA	1	82.2×	0.020	SNRPE
SARS-CoV-2 Infection	1	80.4×	0.020	SNRPE
SARS-CoV Infections	1	55.4×	0.026	SNRPE
mRNA Splicing - Major Pathway	1	54.6×	0.026	SNRPE
Dengue Virus-Host Interactions	1	45.7×	0.030	SNRPE
Metabolism of RNA	1	41.7×	0.031	SNRPE
Viral Infection Pathways	1	30.8×	0.039	SNRPE
Infectious disease	1	24.8×	0.046	SNRPE
RNA Polymerase II Transcription	1	22.5×	0.049	SNRPE
Gene expression (Transcription)	1	17.8×	0.059	SNRPE
Disease	1	13.1×	0.076	SNRPE

GO biological processes 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.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
7-methylguanosine cap hypermethylation	1	2106.5×	0.002	SNRPE
U2-type prespliceosome assembly	1	624.1×	0.002	SNRPE
spliceosomal complex assembly	1	601.9×	0.002	SNRPE
spliceosomal snRNP assembly	1	581.1×	0.002	SNRPE
mRNA splicing, via spliceosome	1	91.6×	0.011	SNRPE

Therapeutics

Drug target analysis

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

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
SNRPE	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
SNRPE	7	Binding:7

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

0 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.

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	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	SNRPE

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
SNRPE	7	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.