ASTE1

Summary

ASTE1 (asteroid structure-specific endonuclease 1, HGNC:25021) is a protein-coding gene on chromosome 3q22.1, encoding Single-strand DNA endonuclease ASTE1 (Q2TB18). Structure-specific DNA endonuclease that specifically cleaves single-stranded DNA and 3’ overhang DNA.

Enables 3’ overhang single-stranded DNA endonuclease activity. Involved in double-strand break repair via homologous recombination and double-strand break repair via nonhomologous end joining. Implicated in Lynch syndrome and mismatch repair cancer syndrome.

Source: NCBI Gene 28990 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Gene–disease (curated): palmar fibromatosis (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 111 total
• GTEx eGene: eQTL in 38 tissues, sQTL in 10 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.29 (unconstrained)
• MANE Select transcript: NM_014065
• Notable: 111 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25021
Approved symbol	ASTE1
Name	asteroid structure-specific endonuclease 1
Location	3q22.1
Locus type	gene with protein product
Status	Approved
Aliases	HT001
Ensembl gene	ENSG00000034533
Ensembl biotype	protein_coding
OMIM	620693
Entrez	28990

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 19 protein_coding, 9 nonsense_mediated_decay

MANE Select: ENST00000264992

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1, TSL 3: 2, TSL 4: 3

ENST00000264992, ENST00000504725, ENST00000504964, ENST00000505290, ENST00000505545, ENST00000507978, ENST00000509060, ENST00000514044, ENST00000874886, ENST00000874887, ENST00000874888, ENST00000874889, ENST00000928636, ENST00000928637, ENST00000928638, ENST00000928639, ENST00000972329, ENST00000972330, ENST00000997186, ENST00000997187, ENST00000997188, ENST00001010605, ENST00001010606, ENST00001010607, ENST00001010608, ENST00001075718, ENST00001075719, ENST00001140143

RefSeq mRNA: 2 — MANE Select: NM_014065 NM_001288950, NM_014065

CCDS: CCDS3068, CCDS75007

Canonical transcript exons

ENST00000264992 — 6 exons

Exon	Start	End
ENSE00000328922	131018506	131018716
ENSE00001018068	131013875	131014387
ENSE00001164451	131024005	131025331
ENSE00001283678	131025474	131025594
ENSE00001283683	131026507	131026825
ENSE00003560577	131016144	131016339

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 88.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7543 / max 77.0003, expressed in 1703 samples.

Highest expression (Bgee): sperm, male germ cell, male germ line stem cell (sensu Vertebrata) in testis, granulocyte, calcaneal tendon.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ASTE1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 38 tissues and its splicing (sQTL) in 10 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 48 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Nerve Tibial	eqtl	9.8e-45	-0.59	3:131015217:C:T
Artery Tibial	eqtl	3.7e-28	-0.43	3:131015217:C:T
Adipose Subcutaneous	eqtl	1.9e-23	-0.38	3:131015217:C:T
Thyroid	eqtl	3.3e-17	-0.28	3:131015497:A:G
Muscle Skeletal	eqtl	9.6e-15	-0.34	3:131015217:C:T
Breast Mammary Tissue	eqtl	7.3e-14	-0.36	3:130973772:A:G
Brain Spinal cord cervical c-1	eqtl	1.0e-13	-0.56	3:131015217:C:T
Nerve Tibial	sqtl	6.1e-13	+0.63	3:131015217:C:T
Adipose Visceral Omentum	eqtl	2.7e-10	-0.26	3:131037703:A:G
Adipose Subcutaneous	sqtl	3.5e-10	+0.50	3:131011673:C:T
Pancreas	eqtl	8.9e-10	-0.53	3:131012662:G:A
Brain Cortex	eqtl	4.4e-09	-0.55	3:130973772:A:G
Colon Transverse	eqtl	9.3e-09	-0.17	3:131088294:C:A
Brain Frontal Cortex BA9	eqtl	5.6e-08	-0.48	3:131052878:C:T
Cells EBV-transformed lymphocytes	eqtl	9.8e-08	-0.37	3:131088294:C:A
Skin Sun Exposed Lower leg	eqtl	1.1e-07	-0.25	3:131015217:C:T
Brain Hypothalamus	eqtl	1.8e-07	-0.50	3:130973772:A:G
Artery Coronary	eqtl	2.5e-07	-0.36	3:130990504:T:A
Lung	eqtl	3.0e-07	-0.17	3:130982706:A:G
Brain Substantia nigra	eqtl	4.8e-07	-0.54	3:130962551:T:C

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
44585	6.5564	1700
44584	0.1954	78
44586	0.0026	1

Top tissues by expression

showing 100 of 278 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	88.93	gold quality
male germ cell	CL:0000015	87.12	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.33	gold quality
granulocyte	CL:0000094	81.49	gold quality
calcaneal tendon	UBERON:0003701	80.41	gold quality
cortical plate	UBERON:0005343	79.23	gold quality
rectum	UBERON:0001052	79.00	gold quality
mucosa of transverse colon	UBERON:0004991	78.83	gold quality
blood	UBERON:0000178	78.26	gold quality
jejunal mucosa	UBERON:0000399	77.89	gold quality
ventricular zone	UBERON:0003053	77.88	gold quality
bone marrow cell	CL:0002092	77.36	gold quality
tendon	UBERON:0000043	77.33	gold quality
small intestine Peyer’s patch	UBERON:0003454	77.26	gold quality
amniotic fluid	UBERON:0000173	77.20	gold quality
colonic mucosa	UBERON:0000317	77.20	gold quality
lymph node	UBERON:0000029	77.10	gold quality
leukocyte	CL:0000738	76.86	gold quality
transverse colon	UBERON:0001157	76.86	gold quality
bone marrow	UBERON:0002371	76.80	gold quality
ganglionic eminence	UBERON:0004023	76.75	gold quality
small intestine	UBERON:0002108	76.47	gold quality
monocyte	CL:0000576	76.37	gold quality
mononuclear cell	CL:0000842	76.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.06	gold quality
secondary oocyte	CL:0000655	76.05	gold quality
duodenum	UBERON:0002114	75.95	gold quality
intestine	UBERON:0000160	75.92	gold quality
right lobe of liver	UBERON:0001114	75.86	gold quality
large intestine	UBERON:0000059	75.59	gold quality
colon	UBERON:0001155	75.55	gold quality
right adrenal gland	UBERON:0001233	75.51	gold quality
gall bladder	UBERON:0002110	75.26	gold quality
mucosa of sigmoid colon	UBERON:0004993	75.26	gold quality
right adrenal gland cortex	UBERON:0035827	75.26	gold quality
diaphragm	UBERON:0001103	75.17	gold quality
stromal cell of endometrium	CL:0002255	75.10	gold quality
right ovary	UBERON:0002118	75.10	gold quality
left adrenal gland	UBERON:0001234	75.05	gold quality
tibial nerve	UBERON:0001323	74.94	gold quality
right lobe of thyroid gland	UBERON:0001119	74.93	gold quality
hindlimb stylopod muscle	UBERON:0004252	74.91	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	74.91	gold quality
islet of Langerhans	UBERON:0000006	74.86	gold quality
endothelial cell	CL:0000115	74.83	silver quality
left testis	UBERON:0004533	74.70	gold quality
right testis	UBERON:0004534	74.70	gold quality
vermiform appendix	UBERON:0001154	74.62	gold quality
endocervix	UBERON:0000458	74.58	gold quality
parietal pleura	UBERON:0002400	74.58	gold quality
hair follicle	UBERON:0002073	74.56	silver quality
body of uterus	UBERON:0009853	74.49	gold quality
left adrenal gland cortex	UBERON:0035825	74.47	gold quality
descending thoracic aorta	UBERON:0002345	74.44	gold quality
testis	UBERON:0000473	74.41	gold quality
spleen	UBERON:0002106	74.41	gold quality
right coronary artery	UBERON:0001625	74.36	gold quality
left lobe of thyroid gland	UBERON:0001120	74.31	gold quality
apex of heart	UBERON:0002098	74.28	gold quality
thyroid gland	UBERON:0002046	74.27	gold quality
left ovary	UBERON:0002119	74.24	gold quality
adrenal gland	UBERON:0002369	74.23	gold quality
smooth muscle tissue	UBERON:0001135	74.14	gold quality
body of stomach	UBERON:0001161	74.10	gold quality
left coronary artery	UBERON:0001626	74.06	gold quality
muscle layer of sigmoid colon	UBERON:0035805	73.95	gold quality
pancreas	UBERON:0001264	73.93	gold quality
adrenal cortex	UBERON:0001235	73.89	gold quality
visceral pleura	UBERON:0002401	73.89	gold quality
pleura	UBERON:0000977	73.85	gold quality
body of pancreas	UBERON:0001150	73.83	gold quality
prefrontal cortex	UBERON:0000451	73.75	gold quality
ovary	UBERON:0000992	73.74	gold quality
middle temporal gyrus	UBERON:0002771	73.64	silver quality
spinal cord	UBERON:0002240	73.58	gold quality
coronary artery	UBERON:0001621	73.49	gold quality
cerebellar cortex	UBERON:0002129	73.45	gold quality
left uterine tube	UBERON:0001303	73.40	gold quality
cerebellar hemisphere	UBERON:0002245	73.38	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	73.37	gold quality
right hemisphere of cerebellum	UBERON:0014890	73.32	gold quality
mucosa of stomach	UBERON:0001199	73.28	gold quality
thoracic aorta	UBERON:0001515	73.22	gold quality
subcutaneous adipose tissue	UBERON:0002190	73.21	gold quality
stomach	UBERON:0000945	73.20	gold quality
trabecular bone tissue	UBERON:0002483	73.16	gold quality
metanephros	UBERON:0000081	73.06	gold quality
adrenal tissue	UBERON:0018303	73.01	gold quality
ascending aorta	UBERON:0001496	72.98	gold quality
caecum	UBERON:0001153	72.94	gold quality
embryo	UBERON:0000922	72.86	gold quality
lower esophagus	UBERON:0013473	72.84	gold quality
lower esophagus muscularis layer	UBERON:0035833	72.84	gold quality
aorta	UBERON:0000947	72.83	gold quality
primary visual cortex	UBERON:0002436	72.73	gold quality
palpebral conjunctiva	UBERON:0001812	72.70	gold quality
skin of abdomen	UBERON:0001416	72.69	gold quality
right uterine tube	UBERON:0001302	72.63	gold quality
popliteal artery	UBERON:0002250	72.63	gold quality
tibial artery	UBERON:0007610	72.63	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.76

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Postcentral gyrus	tissue	10.1
Choroid plexus	tissue	8.9
Nucleus accumbens	tissue	7.3
Hippocampus	tissue	7.0	not detected
Small intestine	tissue	6.7	not detected
Locus coeruleus	tissue	6.7
Thymus	tissue	6.7
Thyroid gland	tissue	6.6	not detected
Lymph node	tissue	6.5	low
Tonsil	tissue	6.4	high
Bone marrow	tissue	6.3	not detected
Testis	tissue	5.7	low
Liver	tissue	5.7	not detected
Cervix	tissue	5.6	high
Epididymis	tissue	5.6	medium
Duodenum	tissue	5.5	not detected
Rectum	tissue	5.4	not detected
Ovary	tissue	5.3	not detected
Breast	tissue	5.1	high
Colon	tissue	5.0	not detected
Parathyroid gland	tissue	4.7	not detected
Appendix	tissue	4.6	not detected
Stomach 1	tissue	4.4	high
Retina	tissue	4.3
Spleen	tissue	4.2	not detected
Fallopian tube	tissue	4.2	low
Seminal vesicle	tissue	3.9	high
Lung	tissue	3.9	medium
Skin 1	tissue	3.8	high
Urinary bladder	tissue	3.7	medium
Gallbladder	tissue	3.7	medium
Placenta	tissue	3.6	low
Esophagus	tissue	3.5	high
Endometrium 1	tissue	3.5	not detected
Kidney	tissue	3.5	low
Prostate	tissue	3.5	high
Adipose tissue	tissue	3.2	not detected
Smooth muscle	tissue	3.2	not detected
Pituitary gland	tissue	3.1
Spinal cord	tissue	3.0
Corpus callosum	tissue	3.0
Salivary gland	tissue	2.9	medium
Hypothalamus	tissue	2.9
Pancreas	tissue	2.8	not detected
Superior colliculi	tissue	2.8
Adrenal gland	tissue	2.8	not detected
Heart muscle	tissue	2.7	not detected
Vagina	tissue	2.7	high
Midbrain	tissue	2.7
Medulla oblongata	tissue	2.7
Periaqueductal gray	tissue	2.7
Pons	tissue	2.6
Tongue	tissue	2.6
Thalamus	tissue	2.6
Substantia nigra	tissue	2.6
Ventral forebrain	tissue	2.6
Olfactory bulb	tissue	2.6
Septum	tissue	2.6
Putamen	tissue	2.5
Amygdala	tissue	2.5

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Cerebellar cortex (14.5), Vermis (12.5), Flocculonodular lobe (12.0), Area striata (11.6), Somatomor cortex, precentral gyrus (white matter) (11.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ASTE1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

14 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-5100	99.11	67.52	1098
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-455-3P	98.94	67.68	878
HSA-MIR-541-5P	98.24	67.77	1181
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-3159	97.94	66.79	1098
HSA-MIR-890	97.47	68.67	982
HSA-MIR-1910-5P	97.42	66.36	844
HSA-MIR-1293	96.16	64.69	916
HSA-MIR-191-5P	95.88	67.82	171

Functional genomics

gnomAD constraint: pLI 1.86e-17, LOEUF 1.29, missense Z 1.68 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000264992 — one region, missense o/e 0.88.

Literature-anchored findings (GeneRIF, showing 4)

• The four most frequently mutated genes in colorectal cancers with microsatellite instability were ACVR2 (92%), TAF1B (84%), ASTE1/HT001 (80%) and TGFBR2 (77%). (PMID:19503063)
• Data suggest that calcium ATPase ATP2C1 gene expression is influenced by an overlapping protein asteroid homolog 1 ASTE1 gene. (PMID:23344038)
• ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating end resection. (PMID:34354233)
• ASTE1 frameshift mutation triggers the immune response in Epstein-Barr virus-associated gastric cancer. (PMID:34983924)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000062530
mus_musculus	Aste1	ENSMUSG00000032567
rattus_norvegicus	Aste1	ENSRNOG00000013059
drosophila_melanogaster	ast	FBGN0015905

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1913845) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased leukocyte cell number	1
abnormal behavior	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo abelii	Q5RCY5	99.7%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ATP2C1	protein-coding	27032
NEK11	protein-coding	79858
NUDT16	protein-coding	131870
NUDT16-DT	ncRNA	339874

Protein

Protein identifiers

Single-strand DNA endonuclease ASTE1 — Q2TB18 (reviewed: Q2TB18)

Alternative names: Protein asteroid homolog 1

All UniProt accessions (7): A0A1Y8EM16, D6R9W5, D6RG30, D6RGH3, D6RJF1, Q2TB18, H0Y982

UniProt curated annotations — full annotation on UniProt →

Function. Structure-specific DNA endonuclease that specifically cleaves single-stranded DNA and 3’ overhang DNA. Contributes to the control of DNA double-strand break repair choice by antagonizing BRCA1-dependent homologous recombination (HR) and promoting non-homologous end-joining (NHEJ). Recruited to the single-stranded DNA ends by SHLD2 and cleaves the 3’ exposed DNA ends, therefore inhibiting DNA end resection (necessary for HR) and promoting DNA end protection (necessary for NHEJ).

Subunit / interactions. Interacts with SHLD1, SHLD2, SHLD3, RIF1 and MAD2L2/REV7.

Similarity. Belongs to the asteroid family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q2TB18-1	1	yes
Q2TB18-2	2

RefSeq proteins (2): NP_001275879, NP_054784* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006085	XPG_DNA_repair_N	Domain
IPR026832	Asteroid	Family
IPR029060	PIN-like_dom_sf	Homologous_superfamily

Pfam: PF00752, PF27698

UniProt features (15 total): sequence conflict 8, region of interest 2, splice variant 2, chain 1, compositionally biased region 1, mutagenesis site 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2TB18-F1	85.40	0.69

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): endoplasmic reticulum

Antibody reliability (HPA): IH supported · IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (1)

Position	Phenotype
252	loss of single-strand dna endonuclease activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 89 (showing top): GOMF_ENDONUCLEASE_ACTIVITY, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOMF_NUCLEASE_ACTIVITY, GOBP_DNA_DAMAGE_RESPONSE, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, GOBP_RECOMBINATIONAL_REPAIR, chr3q22, GOMF_DNA_ENDONUCLEASE_ACTIVITY, GOBP_DNA_METABOLIC_PROCESS, GOBP_DNA_REPAIR, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOBP_DNA_RECOMBINATION, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_GREEN_DN, GOMF_SINGLE_STRANDED_DNA_ENDODEOXYRIBONUCLEASE_ACTIVITY, GOMF_CATALYTIC_ACTIVITY_ACTING_ON_DNA

GO Biological Process (3): double-strand break repair via homologous recombination (GO:0000724), double-strand break repair via nonhomologous end joining (GO:0006303), DNA recombination (GO:0006310)

GO Molecular Function (6): single-stranded DNA endonuclease activity (GO:0000014), 3’ overhang single-stranded DNA endonuclease activity (GO:1990599), nuclease activity (GO:0004518), DNA endonuclease activity (GO:0004520), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO top-level categories

11 GO namespaces:

Category	Terms
double-strand break repair	2
recombinational repair	1
DNA metabolic process	1
DNA endonuclease activity	1
hydrolase activity, acting on ester bonds	1
single-stranded DNA endonuclease activity	1
catalytic activity, acting on a nucleic acid	1
endonuclease activity	1
DNA nuclease activity	1
binding	1
catalytic activity	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 9 annotations. The rest are phylogenetic / computational / electronic (IEA).

4 experimentally-supported GO terms:

GO term	NS	Evidence
double-strand break repair via homologous recombination	BP	mutant phenotype
double-strand break repair via nonhomologous end joining	BP	mutant phenotype
3’ overhang single-stranded DNA endonuclease activity	MF	direct assay
single-stranded DNA endonuclease activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 812 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASTE1	TAF1B	Q53T94	807
ASTE1	MAD2L2	Q9UI95	505
ASTE1	SLC23A2	Q9UGH3	488
ASTE1	CTXN1	P60606	466
ASTE1	NEK11	Q8NG66	459
ASTE1	TMEM108	Q6UXF1	456
ASTE1	SHLD2	Q86V20	452
ASTE1	SHLD1	Q8IYI0	445
ASTE1	POC1B	Q8TC44	438
ASTE1	TUBGCP2	Q9BSJ2	438
ASTE1	USF3	Q68DE3	437
ASTE1	AIM2	O14862	429
ASTE1	RIF1	Q5UIP0	417
ASTE1	TP53BP1	Q12888	410
ASTE1	SLC23A1	Q9UHI7	404

IntAct

Human interaction partners of ASTE1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
XRCC4	physical association	0.560	3
USP47	association	0.530	2

BioGRID (23 interactions; top human partners by supporting records): EPS8L2 (Affinity Capture-MS; 2 records), USP47 (Affinity Capture-MS; 2 records), ZNF692 (Affinity Capture-MS; 2 records), CCDC85A (Affinity Capture-MS), CDC42 (Affinity Capture-MS), CDK2 (Affinity Capture-MS), GAR1 (Affinity Capture-MS), GOLT1B (Affinity Capture-MS), HECW2 (Affinity Capture-MS), JOSD2 (Affinity Capture-MS), KIF20B (Affinity Capture-MS), MYH11 (Affinity Capture-MS), NABP1 (Affinity Capture-MS), TMEM248 (Affinity Capture-MS), XRCC4 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for ASTE1: 111 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.

ClinVar

111 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	8
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 25 predictions of 601):

Position(s)	Effect	Δscore	Sites
3:131016142–131016143	donor_loss	1.0000	5
3:131014388–131014389	acceptor_loss	0.9900	4
3:131016340	acceptor_loss	0.9900
3:131018504–131018505	donor_loss	0.9900	6
3:131018575	donor_gain	0.9900
3:131024003–131024004	donor_loss	0.9900	3
3:131014389	acceptor_loss	0.9800	2
3:131014394	acceptor_gain	0.9700
3:131016142	donor_loss	0.9700
3:131019644	donor_gain	0.9700

AlphaMissense

838 missense substitutions predicted likely pathogenic (of 4,461 scored), across 268 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D162	8	0.971	0.986
D31	8	0.956	0.977
D160	8	0.951	0.984
D79	8	0.950	0.978
D142	8	0.927	0.961
D225	8	0.924	0.965
F163	8	0.894	0.983
F123	8	0.819	0.935
W545	7	0.948	0.995
R373	7	0.910	0.988
W180	7	0.895	0.984
S161	7	0.893	0.989
F198	7	0.884	0.966
N224	7	0.869	0.951
R407	7	0.866	0.984
E358	7	0.859	0.967
E140	7	0.846	0.930
F166	7	0.837	0.955
D344	7	0.834	0.876
N556	7	0.830	0.958

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	7.5e-05

Disease associations

OMIM: gene MIM:620693 | disease phenotypes:

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
palmar fibromatosis	Limited	Autosomal dominant

Mondo (1): palmar fibromatosis (MONDO:0006345)

GWAS associations

2 associations:

Study	Trait	p-value
GCST005042_7	Restless legs syndrome	4e-38
GCST008755_11	Phenylephrine infusion rate during anesthesia	9e-6

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D004387	Dupuytren Contracture	C04.557.450.565.590.340.173; C05.651.197.270; C17.300.270

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
urushiol	decreases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
CPG-oligonucleotide	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Acetaminophen	increases expression	1
Air Pollutants, Occupational	affects expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Testosterone	decreases expression	1
Tretinoin	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E1R3	HAP1 ASTE1 (-) 1	Cancer cell line	Male
CVCL_E1R4	HAP1 ASTE1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

30 trials:

NCT	Phase	Status	Title
NCT02647619	Phase 4	COMPLETED	Dupuytren´s Disease Study. Primary Disease, MCP Joint, Xiapex, PNF
NCT03000114	Phase 4	UNKNOWN	Collagenase Injection vs Percutaneous Needle Aponeurotomy for Dupuytren’s Disease
NCT03192020	Phase 4	ACTIVE_NOT_RECRUITING	Trial Comparing Treatment Strategies in Dupuytren’s Contracture
NCT04907812	Phase 4	UNKNOWN	The Role of Tranexamic Acid in Reducing Post Operative Hand Edema After Hand and Wrist Surgery
NCT05440240	Phase 4	RECRUITING	Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture
NCT06806410	Phase 4	ACTIVE_NOT_RECRUITING	The Efficacy of Liposomal Bupivacaine in Ultrasound Guided Supraclavicular Nerve Blocks for Hand and Wrist Surgery
NCT01776892	Phase 3	WITHDRAWN	Collagenase and Needle Aponeurotomy: Single Modality Versus Combination Treatment for Dupuytren’s Disease
NCT04874870	Phase 3	COMPLETED	Effectiveness of Splinting After Collagenase Injection
NCT01184586	Phase 2	UNKNOWN	Dupuytren’s Disease and Extracorporeal Shockwave Therapy (DupuyShock-2010)
NCT03111186	Phase 2	COMPLETED	Ibuprofen Plus Acetaminophen Versus Oxycodone Alone After Hand Surgery
NCT07227649	Phase 2	NOT_YET_RECRUITING	NAC-REPAIR for Post-surgical Pain
NCT07640425	Phase 1/2	RECRUITING	Safety and Efficacy Study of Collagenase CNT201 Injection for Treatment of Dupuytren’s Contracture
NCT01876498	Not specified	COMPLETED	Registry of Patient With M. Dupuytren and Validation of the Brief MHQ
NCT01923103	Not specified	COMPLETED	Natural Disease Progress of Dupuytren Disease
NCT02983162	Not specified	COMPLETED	Is wGRS Associated With DD Recurrence?
NCT03031080	Not specified	WITHDRAWN	BOND Study: the Benefit Of Night Splinting in Dupuytrens'
NCT03155854	Not specified	RECRUITING	The Effects of Prophylactic Limited Palmar Fasciectomy on Surgical Outcomes and Scarring
NCT03331926	Not specified	COMPLETED	Collagenase is a Common Treatment of MCP and PIP Joint Contractures in Dupuytrens Disease
NCT03407820	Not specified	COMPLETED	Nylon Versus Chromic Gut Sutures for Minor Hand Surgery
NCT03573765	Not specified	COMPLETED	Epidemiology and Outcomes of Upper Limb Surgery: Analysis of Routine Data
NCT03741764	Not specified	UNKNOWN	Treatment of Dupuytren’s Disease With Minimal Invasive Surgery and VIVOSORB® Resorbable Implant Device
NCT03868449	Not specified	COMPLETED	Question Prompt List for Common Hand Conditions
NCT03982719	Not specified	UNKNOWN	Comparing the Effectiveness of Two Post-fasciectomy Rehabilitation Protocols in Patients With Dupuytren’s Disease
NCT04122313	Not specified	RECRUITING	Post-contracture Release Radiation for Dupuytren’s Disease
NCT05300893	Not specified	RECRUITING	Effectiveness of Night Splinting After Percutaneous Needle Fasciotomy in Dupuytren’s Contracture
NCT06248866	Not specified	COMPLETED	Effect Of Extracorporeal Shock Wave Therapy On Ultrasonography Changes In Patients With Palmar Fibromatosis: A Randomized Controlled Trial
NCT06330545	Not specified	RECRUITING	Radiation Therapy for Dupuytren’s Contracture Following Non-Surgical Release
NCT06788847	Not specified	RECRUITING	Evaluating Ultrasound-Guided Needle Knife for Dupuytren’s Contracture
NCT07158892	Not specified	NOT_YET_RECRUITING	Understanding Patient Preferences When Deciding on a Voluntary Musculoskeletal Test
NCT07443371	Not specified	NOT_YET_RECRUITING	Effect of Transfer Energy Capacitive and Resistive Therapy on Palmar Fibromatosis