Dyskeratosis congenita, autosomal dominant 1

Summary

Dyskeratosis congenita, autosomal dominant 1 (MONDO:0007485) is a disease caused by TERC (GenCC Definitive), with 9 cohort genes. The dominant Reactome pathway is Telomere Extension By Telomerase (3 cohort genes).

At a glance

• Causal gene: TERC (GenCC Definitive)
• Cohort genes: 9
• ClinVar variants: 469

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	dyskeratosis congenita, autosomal dominant 1
Mondo ID	MONDO:0007485
MeSH	C565079
OMIM	127550
DOID	DOID:0070014
NCIT	C176921
SNOMED CT	707273001
UMLS	C4551974
MedGen	1645250
GARD	0006299
Is cancer (heuristic)	no

Also known as: autosomal dominant dyskeratosis congenita · DKCA · DKCA1 · dyskeratosis congenita autosomal dominant · dyskeratosis congenita Scoggins type · dyskeratosis congenita, autosomal dominant 1 · dyskeratosis congenita, autosomal dominant type 1 · dyskeratosis congenita, Scoggins type

Data availability: 469 ClinVar variants · 6 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neoplastic syndrome › dyskeratosis congenita › dyskeratosis congenita, autosomal dominant 1

Related subtypes (15): dyskeratosis congenita, autosomal recessive 1, Revesz syndrome, dyskeratosis congenita, autosomal recessive 2, dyskeratosis congenita, autosomal recessive 3, dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, autosomal dominant 3, dyskeratosis congenita, autosomal recessive 6, dyskeratosis congenita, autosomal dominant 6, autosomal recessive dyskeratosis congenita 4, dyskeratosis congenita, digenic, DKC1-related disorder, dyskeratosis congenita, autosomal dominant 4, dyskeratosis congenita, autosomal recessive 7, dyskeratosis congenita and related telomere biology disorder, dyskeratosis congenita, autosomal recessive 8

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

469 retrieved; paginated sample, class counts are floors:

356 uncertain significance, 25 pathogenic, 22 conflicting classifications of pathogenicity, 22 likely benign, 15 likely pathogenic, 11 benign/likely benign, 10 not provided, 4 pathogenic/likely pathogenic, 4 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
40977	NC_000003.12:g.169764745_169767720del	ACTRT3	Pathogenic	no assertion criteria provided
30265	NR_001566.3(TERC):n.52_55delCTAA	LOC110806306	Pathogenic	criteria provided, multiple submitters, no conflicts
39279	NC_000003.12:g.169765299AG[1]	LOC110806306	Pathogenic	no assertion criteria provided
39280	NR_001566.3(TERC):n.100T>A	LOC110806306	Pathogenic	no assertion criteria provided
39282	NR_001566.3(TERC):n.143G>A	LOC110806306	Pathogenic	no assertion criteria provided
39285	NR_001566.3(TERC):n.211_224delCCTGCGGCGGGTCG	LOC110806306	Pathogenic	no assertion criteria provided
39288	NR_001566.3(TERC):n.2G>C	LOC110806306	Pathogenic	no assertion criteria provided
39297	NR_001566.3(TERC):n.48A>G	LOC110806306	Pathogenic	no assertion criteria provided
39299	NR_001566.3(TERC):n.52_86del35	LOC110806306	Pathogenic	no assertion criteria provided
39300	NR_001566.3(TERC):n.79delC	LOC110806306	Pathogenic	no assertion criteria provided
39301	NR_001566.3(TERC):n.96_97delCT	LOC110806306	Pathogenic	no assertion criteria provided
7321	NR_001566.3(TERC):n.107_108delGCinsAG	LOC110806306	Pathogenic	no assertion criteria provided
7322	NR_001566.3(TERC):n.204C>G	LOC110806306	Pathogenic	no assertion criteria provided
7325	NR_001566.3(TERC):n.108_111delCTGA	LOC110806306	Pathogenic	criteria provided, single submitter
950972	NC_000003.12:g.169764994del	LOC110806306	Pathogenic	criteria provided, single submitter
7319	NC_000003.12:g.169763867_169764687del	LOC129937871	Pathogenic	criteria provided, single submitter
446379	NC_000003.12:g.169764653_169764654delinsTT	TERC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
7320	NR_001566.3(TERC):n.408C>G	TERC	Pathogenic	no assertion criteria provided
12735	NM_198253.3(TERT):c.2706G>C (p.Lys902Asn)	TERT	Pathogenic	no assertion criteria provided
39103	TERT:c.1710G>Y (p.Lys570Asn)	TERT	Pathogenic	no assertion criteria provided
39108	NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)	TERT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
410651	NM_198253.3(TERT):c.336dup (p.Glu113fs)	TERT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
38920	NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)	TINF2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
38922	NM_001099274.3(TINF2):c.849dup (p.Thr284fs)	TINF2	Pathogenic	criteria provided, single submitter
4845227	NM_001099274.3(TINF2):c.850A>C (p.Thr284Pro)	TINF2	Pathogenic	no assertion criteria provided
5624	NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)	TINF2	Pathogenic	criteria provided, single submitter
5625	NM_001099274.3(TINF2):c.845G>A (p.Arg282His)	TINF2	Pathogenic	criteria provided, multiple submitters, no conflicts
5626	NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)	TINF2	Pathogenic	criteria provided, single submitter
5627	NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)	TINF2	Pathogenic	criteria provided, multiple submitters, no conflicts
623236	NM_001134225.2(INPP4A):c.36C>T (p.Ala12=)	INPP4A	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 25 · 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
TERC	Definitive	Autosomal dominant	dyskeratosis congenita, autosomal dominant 1	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TERC	Orphanet:1775	Dyskeratosis congenita
TERC	Orphanet:2032	Idiopathic pulmonary fibrosis
TERC	Orphanet:88	Idiopathic aplastic anemia
TERT	Orphanet:146	Differentiated thyroid carcinoma
TERT	Orphanet:1501	Adrenocortical carcinoma
TERT	Orphanet:1775	Dyskeratosis congenita
TERT	Orphanet:2032	Idiopathic pulmonary fibrosis
TERT	Orphanet:2495	Meningioma
TERT	Orphanet:3322	Hoyeraal-Hreidarsson syndrome
TERT	Orphanet:457246	Clear cell sarcoma of kidney
TERT	Orphanet:618	Familial melanoma
TERT	Orphanet:88	Idiopathic aplastic anemia
TGM1	Orphanet:100976	Bathing suit ichthyosis
TGM1	Orphanet:281122	Self-improving collodion baby
TGM1	Orphanet:281127	Acral self-healing collodion baby
TGM1	Orphanet:313	Lamellar ichthyosis
TGM1	Orphanet:79394	Congenital ichthyosiform erythroderma
TINF2	Orphanet:1775	Dyskeratosis congenita
TINF2	Orphanet:3088	Revesz syndrome
TINF2	Orphanet:3322	Hoyeraal-Hreidarsson syndrome
RTEL1	Orphanet:1775	Dyskeratosis congenita
RTEL1	Orphanet:2032	Idiopathic pulmonary fibrosis
RTEL1	Orphanet:3322	Hoyeraal-Hreidarsson syndrome
MECOM	Orphanet:402020	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
MECOM	Orphanet:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

Cohort genes → proteins

9 cohort genes, 7 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	9

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TERC	HGNC:11727	ENSG00000270141		telomerase RNA component	gencc,clinvar
TERT	HGNC:11730	ENSG00000164362	O14746	Telomerase reverse transcriptase	clinvar
TGM1	HGNC:11777	ENSG00000092295	P22735	Protein-glutamine gamma-glutamyltransferase K	clinvar
TINF2	HGNC:11824	ENSG00000092330	Q9BSI4	TERF1-interacting nuclear factor 2	clinvar
RTEL1	HGNC:15888	ENSG00000258366	Q9NZ71	Regulator of telomere elongation helicase 1	clinvar
ACTRT3	HGNC:24022	ENSG00000184378	Q9BYD9	Actin-related protein T3	clinvar
MECOM	HGNC:3498	ENSG00000085276	Q03112	Histone-lysine N-methyltransferase MECOM	clinvar
RTEL1-TNFRSF6B	HGNC:44095	ENSG00000026036		RTEL1-TNFRSF6B readthrough (NMD candidate)	clinvar
INPP4A	HGNC:6074	ENSG00000040933	Q96PE3	Inositol polyphosphate-4-phosphatase type I A	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TERT	Telomerase reverse transcriptase	Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes.
TGM1	Protein-glutamine gamma-glutamyltransferase K	Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
TINF2	TERF1-interacting nuclear factor 2	Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection.
RTEL1	Regulator of telomere elongation helicase 1	A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability.
MECOM	Histone-lysine N-methyltransferase MECOM	Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression.
INPP4A	Inositol polyphosphate-4-phosphatase type I A	Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2).

Protein-family classification

Druggable: 2 · Difficult: 1 · Unknown: 6 · Druggable fraction: 0.22

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
Antibody/Immunoglobulin	1	3.2×	0.687
Enzyme (other)	1	1.3×	0.687
Other/Unknown	6	1.2×	0.687
Transcription factor	1	0.9×	0.687

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TERC	Other/Unknown	no
TERT	Other/Unknown	no		RT_dom, Telomerase_RT, Telomerase_RBD
TGM1	Antibody/Immunoglobulin	yes	2.3.2.13	Transglutaminase_N, Transglutaminase-like, Transglutaminase_C
TINF2	Other/Unknown	no		TINF2_N, TINF2
RTEL1	Other/Unknown	no		Helicase-like_DEXD_c2, ATP-dep_Helicase_C, RAD3-like_helicase_DEAD
ACTRT3	Other/Unknown	no		Actin, Actin/actin-like_CS, ATPase_NBD
MECOM	Transcription factor	no		SET_dom, Znf_C2H2_type, Znf_C2H2_sf
RTEL1-TNFRSF6B	Other/Unknown	no
INPP4A	Enzyme (other)	yes	3.1.3.66	C2_dom, C2_domain_sf, INPP4

Expression context

Cohort genes with no expression data: 0.

5 cohort genes 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)	9
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cerebellar hemisphere	2
right hemisphere of cerebellum	2
bone marrow cell	1
colonic epithelium	1
male germ line stem cell (sensu Vertebrata) in testis	1
olfactory bulb	1
stromal cell of endometrium	1
type B pancreatic cell	1
esophagus mucosa	1
lower esophagus mucosa	1
skin of leg	1
granulocyte	1
right adrenal gland	1
right adrenal gland cortex	1
sural nerve	1
left testis	1
right testis	1
sperm	1
cardia of stomach	1
pylorus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TERC	113	ubiquitous	yes	bone marrow cell, colonic epithelium, male germ line stem cell (sensu Vertebrata) in testis
TERT	105	broad	yes	stromal cell of endometrium, type B pancreatic cell, olfactory bulb
TGM1	135	broad	marker	lower esophagus mucosa, esophagus mucosa, skin of leg
TINF2	144	ubiquitous	marker	granulocyte, right adrenal gland, right adrenal gland cortex
RTEL1	134	ubiquitous	yes	sural nerve, right hemisphere of cerebellum, cerebellar hemisphere
ACTRT3	162	broad	yes	sperm, left testis, right testis
MECOM	276	ubiquitous	marker	cardia of stomach, renal medulla, pylorus
RTEL1-TNFRSF6B	135		marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellum
INPP4A	279	ubiquitous	marker	Brodmann (1909) area 23, endothelial cell, tibia

Protein interactions among cohort

Intra-cohort edges: 3.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TERT	5,717
MECOM	2,442
RTEL1	2,324
ACTRT3	2,105
TGM1	1,978
TINF2	1,769
INPP4A	801
TERC	0
RTEL1-TNFRSF6B	0

Intra-cohort edges

A	B	Sources
RTEL1	TERT	string_interaction
RTEL1	TINF2	string_interaction
TERT	TINF2	string_interaction

Structural data

PDB: 5 · AlphaFold-only: 2 · No structure: 2

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TERT	O14746	23
TINF2	Q9BSI4	3
RTEL1	Q9NZ71	3
TGM1	P22735	1
MECOM	Q03112	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ACTRT3	Q9BYD9	94.47
INPP4A	Q96PE3	80.39

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 53. Enrichment computed across 9 evidence-associated genes (6 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 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Telomere Extension By Telomerase	3	228.4×	1e-05	TERT, TINF2, RTEL1
Extension of Telomeres	2	200.3×	0.001	TERT, RTEL1
Telomere Maintenance	2	122.8×	0.002	TERT, RTEL1
Chromosome Maintenance	2	70.5×	0.004	TERT, RTEL1
Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence	1	271.9×	0.031	TERT
Telomere C-strand synthesis initiation	1	135.9×	0.031	TINF2
Kidney development	1	135.9×	0.031	MECOM
Processive synthesis on the C-strand of the telomere	1	126.9×	0.031	TINF2
Telomere C-strand (Lagging Strand) Synthesis	1	126.9×	0.031	TINF2
Synthesis of IP2, IP, and Ins in the cytosol	1	126.9×	0.031	INPP4A
Cytosolic iron-sulfur cluster assembly	1	126.9×	0.031	RTEL1
Synthesis of PIPs at the early endosome membrane	1	119.0×	0.031	INPP4A
Removal of the Flap Intermediate from the C-strand	1	105.7×	0.031	TINF2
Resolution of D-Loop Structures	1	105.7×	0.031	RTEL1
Formation of the nephric duct	1	105.7×	0.031	MECOM
Developmental Biology	3	7.2×	0.031	TERT, TGM1, MECOM
Cell Cycle	2	12.0×	0.033	TERT, RTEL1
Inositol phosphate metabolism	1	79.3×	0.037	INPP4A
Polymerase switching on the C-strand of the telomere	1	70.5×	0.039	TINF2
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)	1	65.6×	0.040	RTEL1
PI Metabolism	1	59.5×	0.042	INPP4A
Homology Directed Repair	1	51.4×	0.044	RTEL1
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	1	51.4×	0.044	RTEL1
DNA Double-Strand Break Repair	1	41.4×	0.050	RTEL1
PTEN Regulation	1	38.1×	0.050	MECOM
Packaging Of Telomere Ends	1	36.6×	0.050	TINF2
Synthesis of PIPs at the plasma membrane	1	35.2×	0.050	INPP4A
Recognition and association of DNA glycosylase with site containing an affected purine	1	34.0×	0.050	TINF2
Cleavage of the damaged purine	1	34.0×	0.050	TINF2
Phospholipid metabolism	1	33.4×	0.050	INPP4A

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
DNA strand displacement	1	2808.7×	0.003	RTEL1
RNA-templated transcription	1	2808.7×	0.003	TERT
DNA strand elongation	1	2808.7×	0.003	TERT
siRNA transcription	1	2808.7×	0.003	TERT
positive regulation of transdifferentiation	1	2808.7×	0.003	TERT
regulation of telomere maintenance via telomere lengthening	1	2808.7×	0.003	TINF2
negative regulation of telomere maintenance in response to DNA damage	1	2808.7×	0.003	RTEL1
positive regulation of telomeric loop disassembly	1	2808.7×	0.003	RTEL1
positive regulation of telomere maintenance	2	170.2×	0.003	TINF2, RTEL1
telomere maintenance	2	89.2×	0.003	TERT, RTEL1
RNA-templated DNA biosynthetic process	1	1404.3×	0.004	TERT
positive regulation of hair cycle	1	1404.3×	0.004	TERT
telomeric loop disassembly	1	1404.3×	0.004	RTEL1
cell envelope organization	1	936.2×	0.005	TGM1
mitotic telomere maintenance via semi-conservative replication	1	936.2×	0.005	RTEL1
negative regulation of t-circle formation	1	936.2×	0.005	RTEL1
telomere assembly	1	702.2×	0.006	TINF2
positive regulation of telomere capping	1	561.7×	0.007	RTEL1
positive regulation of telomere maintenance via telomere lengthening	1	468.1×	0.008	RTEL1
positive regulation of protein localization to nucleolus	1	468.1×	0.008	TERT
establishment of protein localization to telomere	1	351.1×	0.010	TERT
siRNA processing	1	312.1×	0.010	TERT
telomere maintenance in response to DNA damage	1	312.1×	0.010	RTEL1
telomere maintenance via recombination	1	255.3×	0.011	TERT
protein localization to chromosome, telomeric region	1	255.3×	0.011	TINF2
telomere capping	1	216.1×	0.012	TINF2
heterochromatin organization	1	216.1×	0.012	MECOM
negative regulation of DNA recombination	1	187.2×	0.013	RTEL1
cornification	1	175.5×	0.013	TGM1
regulation of double-strand break repair via homologous recombination	1	165.2×	0.013	RTEL1

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 8

Druggability breadth: 3 of 9 evidence-associated genes (33%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
TERT	BERBERINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TERT	10	4
TERC	0	0
TGM1	0	0
TINF2	0	0
RTEL1	0	0
ACTRT3	0	0
MECOM	0	0
RTEL1-TNFRSF6B	0	0
INPP4A	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
BERBERINE	4	TERT
DOXORUBICIN	4	TERT
RESVERATROL	3	TERT
EPIGALOCATECHIN GALLATE	3	TERT
PERIFOSINE	3	TERT
ISOMETAMIDIUM	2	TERT
HOMIDIUM BROMIDE	2	TERT
ALLICIN	2	TERT
OLEIC ACID	2	TERT
ETHACRIDINE	2	TERT

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

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

Symbol	Assays	Type breakdown
TERT	391	Binding:389, Functional:2
TGM1	11	Binding:11
MECOM	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TGM1	2.3.2.13	protein-glutamine gamma-glutamyltransferase
INPP4A	3.1.3.66	phosphatidylinositol-3,4-bisphosphate 4-phosphatase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
TERT	391

Pharmacogenomics

Cohort genes with a PharmGKB record: 8; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

10 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)
BERBERINE	4	TERT
DOXORUBICIN	4	TERT
RESVERATROL	3	TERT
EPIGALOCATECHIN GALLATE	3	TERT
PERIFOSINE	3	TERT
ISOMETAMIDIUM	2	TERT
HOMIDIUM BROMIDE	2	TERT
ALLICIN	2	TERT
OLEIC ACID	2	TERT
ETHACRIDINE	2	TERT

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	TERT
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	TGM1
D	Druggable family + AlphaFold only, no drug	1	INPP4A
E	Difficult family or no structure, no drug	6	TERC, TINF2, RTEL1, ACTRT3, MECOM, RTEL1-TNFRSF6B

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
TERC	0	—
TGM1	11	—
TINF2	0	—
RTEL1	0	—
ACTRT3	0	—
MECOM	1	—
RTEL1-TNFRSF6B	0	—
INPP4A	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.