Encephalitis, acute, infection (viral)-induced, susceptibility to, 11

disease

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Also known as IIAE11

Summary

Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 (MONDO:0030334) is a disease caused by DBR1 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: DBR1 (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	encephalitis, acute, infection (viral)-induced, susceptibility to, 11
Mondo ID	MONDO:0030334
OMIM	619441
UMLS	C5561941
MedGen	1794151
Is cancer (heuristic)	no

Also known as: encephalitis, acute, infection (viral)-induced, susceptibility to, 11 · IIAE11

Data availability: 9 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › encephalitis, acute, infection-induced, susceptibility to › encephalitis, acute, infection (viral)-induced, susceptibility to, 11

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:

5 uncertain significance, 2 risk factor, 1 pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
3254746	NM_016216.4(DBR1):c.589dup (p.Arg197fs)	DBR1	Pathogenic	criteria provided, single submitter
1184276	NM_016216.4(DBR1):c.37_38delinsGG (p.Leu13Gly)	DBR1	risk factor	no assertion criteria provided
1184275	NM_016216.4(DBR1):c.49T>C (p.Tyr17His)	LOC129937648	risk factor	no assertion criteria provided
3254747	NM_016216.4(DBR1):c.233C>T (p.Thr78Met)	DBR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1184274	NM_016216.4(DBR1):c.359T>C (p.Ile120Thr)	DBR1	Uncertain significance	criteria provided, single submitter
1184277	NM_016216.4(DBR1):c.589C>T (p.Arg197Ter)	DBR1	Uncertain significance	criteria provided, single submitter
2171087	NM_016216.4(DBR1):c.489+5G>A	DBR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2579701	NM_016216.4(DBR1):c.200A>G (p.Tyr67Cys)	DBR1	Uncertain significance	criteria provided, single submitter
4796010	NM_016216.4(DBR1):c.461G>A (p.Arg154Lys)	DBR1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 0 · 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
DBR1	Strong	Autosomal recessive	encephalitis, acute, infection (viral)-induced, susceptibility to, 11	4

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
DBR1	HGNC:15594	ENSG00000138231	Q9UK59	Lariat debranching enzyme	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DBR1	Lariat debranching enzyme	Cleaves the 2’-5’ phosphodiester linkage at the branch point of excised lariat intron RNA and converts them into linear molecules that can be subsequently degraded, thereby facilitating ribonucleotide turnover.

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)
DBR1	Other/Unknown	no		Calcineurin-like_PHP, DBR1_C, Metallo-depent_PP-like

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
buccal mucosa cell	1
calcaneal tendon	1
tendon of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DBR1	258	ubiquitous	marker	buccal mucosa cell, calcaneal tendon, tendon of biceps brachii

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DBR1	1,580

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
DBR1	Q9UK59	79.04

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
RNA fragment catabolic process	1	16852.0×	2e-04	DBR1
RNA splicing, via transesterification reactions	1	624.1×	0.003	DBR1
mRNA splicing, via spliceosome	1	91.6×	0.015	DBR1
protein stabilization	1	66.9×	0.015	DBR1

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
DBR1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	DBR1

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)
DBR1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: DBR1