xeroderma pigmentosum, complementation group J

disease

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Summary

xeroderma pigmentosum, complementation group J (MONDO:0980987) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	xeroderma pigmentosum, complementation group J
Mondo ID	MONDO:0980987
OMIM	621435
Is cancer (heuristic)	no

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary skin disorder › hereditary photodermatosis › xeroderma pigmentosum › xeroderma pigmentosum, complementation group J

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

2 retrieved; paginated sample, class counts are floors:

2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4533342	GTF2H4, IVS2, G-A, -1	GTF2H4	Pathogenic	no assertion criteria provided
4533343	GTF2H4, 2-BP DEL/3-BP INS, NT 1203	GTF2H4	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

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

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
GTF2H4	HGNC:4658	ENSG00000213780	Q92759	General transcription factor IIH subunit 4	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GTF2H4	General transcription factor IIH subunit 4	Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription…

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)
GTF2H4	Other/Unknown	no		TFIIH_p52/Tfb2, Tfb2_C

Expression context

Cohort genes with no expression data: 0.

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
metanephros cortex	1
pituitary gland	1
right lobe of liver	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GTF2H4	139	ubiquitous	yes	right lobe of liver, pituitary gland, metanephros cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GTF2H4	1,871

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
GTF2H4	Q92759	51

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 48. 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
Global Genome Nucleotide Excision Repair (GG-NER)	1	456.8×	0.009	GTF2H4
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	1	407.9×	0.009	GTF2H4
RNA Pol II CTD phosphorylation and interaction with CE	1	407.9×	0.009	GTF2H4
mRNA Capping	1	380.7×	0.009	GTF2H4
Formation of the Early Elongation Complex	1	335.9×	0.009	GTF2H4
Formation of the HIV-1 Early Elongation Complex	1	335.9×	0.009	GTF2H4
HIV Transcription Elongation	1	335.9×	0.009	GTF2H4
RNA Polymerase I Transcription Termination	1	326.3×	0.009	GTF2H4
RNA Polymerase I Promoter Clearance	1	292.8×	0.009	GTF2H4
Nucleotide Excision Repair	1	285.5×	0.009	GTF2H4
RNA Polymerase I Transcription	1	285.5×	0.009	GTF2H4
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	1	265.6×	0.009	GTF2H4
Formation of HIV-1 elongation complex containing HIV-1 Tat	1	259.6×	0.009	GTF2H4
Tat-mediated elongation of the HIV-1 transcript	1	259.6×	0.009	GTF2H4
Negative epigenetic regulation of rRNA expression	1	259.6×	0.009	GTF2H4
Dual Incision in GG-NER	1	259.6×	0.009	GTF2H4
Formation of Incision Complex in GG-NER	1	253.8×	0.009	GTF2H4
Formation of HIV elongation complex in the absence of HIV Tat	1	248.3×	0.009	GTF2H4
HIV Transcription Initiation	1	233.1×	0.009	GTF2H4
RNA Polymerase II HIV Promoter Escape	1	233.1×	0.009	GTF2H4
RNA Polymerase II Promoter Escape	1	233.1×	0.009	GTF2H4
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	1	233.1×	0.009	GTF2H4
RNA Polymerase II Transcription Initiation	1	233.1×	0.009	GTF2H4
RNA Polymerase II Transcription Initiation And Promoter Clearance	1	233.1×	0.009	GTF2H4
RNA Polymerase I Transcription Initiation	1	223.9×	0.009	GTF2H4
Formation of TC-NER Pre-Incision Complex	1	211.5×	0.009	GTF2H4
Formation of RNA Pol II elongation complex	1	193.6×	0.009	GTF2H4
RNA Polymerase II Transcription Elongation	1	193.6×	0.009	GTF2H4
TP53 Regulates Transcription of DNA Repair Genes	1	181.3×	0.009	GTF2H4
Gap-filling DNA repair synthesis and ligation in TC-NER	1	178.4×	0.009	GTF2H4

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
nucleotide-excision repair	1	383.0×	0.008	GTF2H4
transcription by RNA polymerase II	1	70.5×	0.016	GTF2H4
DNA repair	1	63.8×	0.016	GTF2H4

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
GTF2H4	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	GTF2H4

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)
GTF2H4	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: GTF2H4