ATOSA

Summary

ATOSA (atos homolog A, HGNC:25609) is a protein-coding gene on chromosome 15q21.2-q21.3, encoding Atos homolog protein A (Q32MH5). Transcription regulator that syncronizes transcriptional and translational programs to promote macrophage invasion of tissues.

Predicted to be located in nucleus.

Source: NCBI Gene 56204 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 162 total
• Regional missense constraint (gnomAD): 1 of 7 regions constrained (≈2% of expected missense variation)
• GTEx eGene: eQTL in 38 tissues, sQTL in 43 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.63 (unconstrained)
• MANE Select transcript: NM_001385016
• Notable: 162 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25609
Approved symbol	ATOSA
Name	atos homolog A
Location	15q21.2-q21.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10980
Ensembl gene	ENSG00000047346
Ensembl biotype	protein_coding
OMIM	620168
Entrez	56204

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 24 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

MANE Select: ENST00000619572

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 4, TSL 2: 4, TSL 3: 3, TSL 4: 2, TSL 5: 3

ENST00000619572, ENST00000261844, ENST00000399202, ENST00000534964, ENST00000546305, ENST00000561490, ENST00000561543, ENST00000562135, ENST00000562351, ENST00000566768, ENST00000566948, ENST00000568637, ENST00000568668, ENST00000568863, ENST00000568871, ENST00000570204, ENST00000899912, ENST00000922188, ENST00000922189, ENST00000946907, ENST00000946908, ENST00000981033, ENST00000981034, ENST00000981035, ENST00000981036, ENST00001055293, ENST00001055294, ENST00001055295, ENST00001132692

RefSeq mRNA: 13 — MANE Select: NM_001385016 NM_001286495, NM_001385013, NM_001385014, NM_001385015, NM_001385016, NM_001385017, NM_001385018, NM_001385019, NM_001385020, NM_001385021, NM_001385022, NM_001385023, NM_019600

CCDS: CCDS45263, CCDS66773

Canonical transcript exons

ENST00000619572 — 13 exons

Exon	Start	End
ENSE00000689425	52608568	52610383
ENSE00000689447	52613673	52613857
ENSE00000884779	52611130	52611255
ENSE00003478816	52611575	52611777
ENSE00003616420	52581321	52582307
ENSE00003632574	52587151	52587219
ENSE00003642010	52593578	52593736
ENSE00003663842	52605133	52605246
ENSE00003673201	52678006	52678122
ENSE00003678050	52601086	52601165
ENSE00003680360	52600127	52600235
ENSE00003681673	52584745	52584944
ENSE00003920690	52678828	52679388

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 97.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.5111 / max 188.9568, expressed in 1683 samples.

Highest expression (Bgee): upper arm skin, nasal cavity epithelium, body of pancreas, tibialis anterior, cardiac muscle of right atrium.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ATOSA is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 38 tissues and its splicing (sQTL) in 43 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 81 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	sqtl	2.0e-44	+0.74	15:52658572:T:TA
Adipose Subcutaneous	sqtl	1.1e-41	+0.84	15:52658572:T:TA
Adipose Visceral Omentum	sqtl	1.2e-39	+0.86	15:52658572:T:TA
Thyroid	sqtl	7.2e-37	+0.83	15:52658572:T:TA
Skin Sun Exposed Lower leg	sqtl	4.7e-31	+0.73	15:52658572:T:TA
Nerve Tibial	sqtl	4.2e-30	+0.79	15:52658572:T:TA
Esophagus Muscularis	sqtl	6.5e-28	+0.83	15:52658572:T:TA
Artery Tibial	sqtl	1.5e-24	+0.67	15:52658572:T:TA
Breast Mammary Tissue	sqtl	1.8e-24	+0.79	15:52658572:T:TA
Colon Transverse	sqtl	3.0e-24	-0.85	15:52658572:T:TA
Colon Sigmoid	sqtl	1.3e-22	+0.91	15:52658572:T:TA
Esophagus Mucosa	sqtl	6.6e-18	+0.52	15:52658572:T:TA
Skin Not Sun Exposed Suprapubic	sqtl	1.0e-17	+0.61	15:52658572:T:TA
Artery Aorta	sqtl	1.3e-17	+0.68	15:52658572:T:TA
Cells Cultured fibroblasts	sqtl	2.9e-17	+0.60	15:52658572:T:TA
Brain Frontal Cortex BA9	eqtl	9.8e-17	+0.45	15:52658572:T:TA
Lung	sqtl	2.1e-16	-0.66	15:52658572:T:TA
Brain Spinal cord cervical c-1	eqtl	2.2e-16	+0.50	15:52658572:T:TA
Brain Cortex	eqtl	4.9e-16	+0.47	15:52658572:T:TA
Brain Caudate basal ganglia	sqtl	3.1e-15	+0.83	15:52658572:T:TA

FANTOM5 promoters

8 alternative TSS:

Promoter ID	TPM avg	Samples expressed
150037	6.6803	1560
150036	1.9539	835
150034	0.5770	215
150041	0.3632	95
150035	0.3240	126
150039	0.2866	122
150029	0.2108	85
150038	0.1152	53

Top tissues by expression

showing 100 of 263 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	97.62	gold quality
nasal cavity epithelium	UBERON:0005384	96.86	gold quality
body of pancreas	UBERON:0001150	96.49	gold quality
tibialis anterior	UBERON:0001385	96.40	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.30	gold quality
deltoid	UBERON:0001476	96.22	gold quality
mucosa of stomach	UBERON:0001199	96.17	gold quality
oral cavity	UBERON:0000167	95.97	gold quality
right uterine tube	UBERON:0001302	95.97	gold quality
lower esophagus mucosa	UBERON:0035834	95.90	gold quality
gastrocnemius	UBERON:0001388	95.89	gold quality
esophagus squamous epithelium	UBERON:0006920	95.68	gold quality
secondary oocyte	CL:0000655	95.52	gold quality
right lung	UBERON:0002167	95.45	gold quality
epithelium of nasopharynx	UBERON:0001951	95.40	gold quality
tonsil	UBERON:0002372	95.40	gold quality
subcutaneous adipose tissue	UBERON:0002190	95.34	gold quality
muscle of leg	UBERON:0001383	95.31	gold quality
bone marrow cell	CL:0002092	95.22	gold quality
cerebellar hemisphere	UBERON:0002245	95.06	gold quality
minor salivary gland	UBERON:0001830	95.04	gold quality
skeletal muscle organ	UBERON:0014892	95.03	gold quality
cerebellar cortex	UBERON:0002129	95.01	gold quality
left lobe of thyroid gland	UBERON:0001120	94.83	gold quality
cerebellum	UBERON:0002037	94.71	gold quality
pituitary gland	UBERON:0000007	94.67	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.60	gold quality
vastus lateralis	UBERON:0001379	94.55	gold quality
adipose tissue	UBERON:0001013	94.53	gold quality
upper leg skin	UBERON:0004262	94.53	gold quality
thyroid gland	UBERON:0002046	94.51	gold quality
lymph node	UBERON:0000029	94.48	gold quality
adenohypophysis	UBERON:0002196	94.44	gold quality
skin of hip	UBERON:0001554	94.35	gold quality
saliva-secreting gland	UBERON:0001044	94.34	gold quality
right lobe of thyroid gland	UBERON:0001119	94.33	gold quality
right adrenal gland cortex	UBERON:0035827	94.24	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.16	gold quality
esophagus mucosa	UBERON:0002469	94.12	gold quality
mouth mucosa	UBERON:0003729	94.11	gold quality
sural nerve	UBERON:0015488	94.09	gold quality
skeletal muscle tissue	UBERON:0001134	94.03	gold quality
pharyngeal mucosa	UBERON:0000355	94.02	gold quality
quadriceps femoris	UBERON:0001377	93.90	gold quality
body of tongue	UBERON:0011876	93.90	gold quality
endometrium	UBERON:0001295	93.83	gold quality
muscle tissue	UBERON:0002385	93.80	gold quality
adipose tissue of abdominal region	UBERON:0007808	93.80	gold quality
nasal cavity mucosa	UBERON:0001826	93.79	gold quality
nerve	UBERON:0001021	93.77	gold quality
tibial nerve	UBERON:0001323	93.77	gold quality
rectum	UBERON:0001052	93.75	gold quality
right adrenal gland	UBERON:0001233	93.73	gold quality
omental fat pad	UBERON:0010414	93.73	gold quality
peritoneum	UBERON:0002358	93.72	gold quality
jejunal mucosa	UBERON:0000399	93.60	gold quality
palpebral conjunctiva	UBERON:0001812	93.59	gold quality
superficial temporal artery	UBERON:0001614	93.56	gold quality
biceps brachii	UBERON:0001507	93.55	gold quality
colonic epithelium	UBERON:0000397	93.53	gold quality
ileal mucosa	UBERON:0000331	93.41	gold quality
pancreas	UBERON:0001264	93.40	gold quality
endothelial cell	CL:0000115	93.39	gold quality
left adrenal gland	UBERON:0001234	93.39	gold quality
skin of abdomen	UBERON:0001416	93.38	gold quality
small intestine	UBERON:0002108	93.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.33	gold quality
fundus of stomach	UBERON:0001160	93.29	gold quality
seminal vesicle	UBERON:0000998	93.28	gold quality
spleen	UBERON:0002106	93.27	gold quality
esophagus	UBERON:0001043	93.26	gold quality
skin of leg	UBERON:0001511	93.25	gold quality
right lobe of liver	UBERON:0001114	93.17	gold quality
bronchial epithelial cell	CL:0002328	93.12	gold quality
tongue	UBERON:0001723	93.11	gold quality
left ovary	UBERON:0002119	93.08	gold quality
bronchus	UBERON:0002185	93.08	gold quality
body of uterus	UBERON:0009853	93.08	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.01	gold quality
left adrenal gland cortex	UBERON:0035825	93.00	gold quality
zone of skin	UBERON:0000014	92.98	gold quality
eye	UBERON:0000970	92.93	gold quality
adrenal cortex	UBERON:0001235	92.93	gold quality
calcaneal tendon	UBERON:0003701	92.93	gold quality
left ventricle myocardium	UBERON:0006566	92.93	gold quality
cardia of stomach	UBERON:0001162	92.79	gold quality
adrenal gland	UBERON:0002369	92.78	gold quality
body of stomach	UBERON:0001161	92.71	gold quality
superior surface of tongue	UBERON:0007371	92.66	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.65	gold quality
urinary bladder	UBERON:0001255	92.58	gold quality
endocervix	UBERON:0000458	92.56	gold quality
uterine cervix	UBERON:0000002	92.55	gold quality
jejunum	UBERON:0002115	92.50	gold quality
stomach	UBERON:0000945	92.48	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.44	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.44	gold quality
uterus	UBERON:0000995	92.38	gold quality
transverse colon	UBERON:0001157	92.35	gold quality
right ovary	UBERON:0002118	92.28	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6075	no	421.01
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	102.5
Cerebellum	tissue	54.9	high
Parathyroid gland	tissue	38.4	low
Liver	tissue	35.4	low
Nucleus accumbens	tissue	34.1
Olfactory bulb	tissue	32.4
Adipose tissue	tissue	29.6	not detected
Locus coeruleus	tissue	27.6
Tonsil	tissue	27.6	not detected
Superior colliculi	tissue	27.0
Thalamus	tissue	26.3
Hippocampus	tissue	26.3	low
Midbrain	tissue	26.0
Esophagus	tissue	25.7	not detected
Breast	tissue	25.6	low
Postcentral gyrus	tissue	25.4
Periaqueductal gray	tissue	24.1
Pons	tissue	23.7
Tongue	tissue	23.7
Corpus callosum	tissue	23.6
Substantia nigra	tissue	23.5
Thyroid gland	tissue	23.3	low
Hypothalamus	tissue	23.1
Medulla oblongata	tissue	23.0
Septum	tissue	22.9
Hippocampal formation	tissue	22.4
Lymph node	tissue	21.9	not detected
Putamen	tissue	21.5
Spinal cord	tissue	20.9
Ventral forebrain	tissue	20.7
Amygdala	tissue	20.5
Caudate putamen	tissue	20.3
Bone marrow	tissue	20.2	not detected
Cerebral cortex	tissue	20.0	high
Occipital cortex	tissue	20.0
Somatosensory cortex	tissue	19.7
Pancreas	tissue	19.2	low
Motor cortex	tissue	19.0
Entorhinal cortex	tissue	18.8
Temporal cortex	tissue	18.8
Retrosplenial and cingulate cortex	tissue	18.4
Prefrontal cortex	tissue	18.1
Basal ganglia	tissue	18.1	medium
Retrosplenial cortex	tissue	18.1
Skeletal muscle	tissue	18.0	medium
Testis	tissue	17.8	low
Adrenal gland	tissue	17.4	medium
Insular cortex	tissue	17.0
Thymus	tissue	16.1
Retina	tissue	16.0
Rectum	tissue	15.5	medium
Endometrium 1	tissue	15.0	not detected
Fallopian tube	tissue	14.8	not detected
Salivary gland	tissue	14.6	not detected
Seminal vesicle	tissue	14.4	not detected
Stomach 1	tissue	14.2	medium
Heart muscle	tissue	13.6	medium
Colon	tissue	13.6	low
Spleen	tissue	12.9	not detected
Prostate	tissue	12.7	not detected

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Flocculonodular lobe (66.9), Cerebellar cortex (65.9), Vermis (64.9), Parieto-temporal junction (white matter) (43.4), Area striata (white matter) (43.2).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

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

showing 30 of 93 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1305	99.91	71.43	3443

Functional genomics

gnomAD constraint: pLI 4.8e-06, LOEUF 0.634, missense Z 0.941 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000619572 splits into 7 regions with different missense tolerance; 1 is missense-constrained (≈2% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
15:52,582,157–52,593,592	114 / 177.7	0.64	no
15:52,593,593–52,610,231	876 / 813.1	1.08	no
15:52,610,232–52,611,168	56 / 73.8	0.76	no
15:52,611,169–52,611,231	5 / 24.6	0.20	yes (p 7.8e-05)
15:52,611,232–52,613,725	108 / 114.3	0.94	no
15:52,613,726–52,613,806	12 / 32.7	0.37	no
15:52,613,807–52,678,021	27 / 24.5	1.10	no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	atosa	ENSDARG00000040452
mus_musculus	Atosa	ENSMUSG00000034858
rattus_norvegicus	Atosa	ENSRNOG00000058522

Paralogs (1): ATOSB (ENSG00000005238)

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	Q5RBA3	99.3%	Diamond
Macaca fascicularis	Q4R676	98.9%	Diamond
Bos taurus	Q5BIM2	92.9%	Diamond
Gallus gallus	Q5ZI58	66.5%	Diamond
Xenopus tropicalis	Q5FW46	57.9%	Diamond
Drosophila melanogaster	Q7JXG9	42.1%	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
ARPP19	protein-coding	10776
ONECUT1	protein-coding	3175
MYO5A	protein-coding	4644
MYO5C	protein-coding	55930
MIR1266	ncRNA	100302202

Protein

Protein identifiers

Atos homolog protein A — Q32MH5 (reviewed: Q32MH5)

All UniProt accessions (10): A0A087WV94, H0Y3Q9, H3BNT9, H3BQ29, H3BSJ2, H3BTD0, H3BU00, H3BUJ2, H3BVB3, Q32MH5

UniProt curated annotations — full annotation on UniProt →

Function. Transcription regulator that syncronizes transcriptional and translational programs to promote macrophage invasion of tissues.

Subcellular location. Nucleus.

Domain organisation. The protein contains 2 transactivation domains (TAD). Each of these domains may be required for transcriptional activation of a subset of target genes.

Similarity. Belongs to the ATOS family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q32MH5-1	1	yes
Q32MH5-2	2
Q32MH5-3	3

RefSeq proteins (13): NP_001273424, NP_001371942, NP_001371943, NP_001371944, NP_001371945, NP_001371946, NP_001371947, NP_001371948, NP_001371949, NP_001371950, NP_001371951, NP_001371952, NP_062546 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025261	Atos-like_cons_dom	Domain
IPR033473	Atos-like_C	Domain
IPR051506	ATOS	Family

Pfam: PF13889, PF13915

UniProt features (19 total): sequence conflict 7, region of interest 5, splice variant 3, sequence variant 2, chain 1, compositionally biased region 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q32MH5-F1	55.15	0.20

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH approved · IF approved

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: 180 (showing top): AAACCAC_MIR140, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, BASAKI_YBX1_TARGETS_DN, VECCHI_GASTRIC_CANCER_EARLY_DN, ACEVEDO_LIVER_CANCER_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, ATGTAGC_MIR221_MIR222, HAMAI_APOPTOSIS_VIA_TRAIL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

2 GO namespaces:

Category	Terms
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

showing 15 of 436 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATOSA	RSL24D1	Q9UHA3	506
ATOSA	LMBRD2	Q68DH5	500
ATOSA	MBLAC1	A4D2B0	484
ATOSA	ONECUT1	Q9UBC0	464
ATOSA	ZFAND2B	Q8WV99	450
ATOSA	PIGO	Q8TEQ8	448
ATOSA	AP4E1	Q9UPM8	434
ATOSA	ARPP19	P56211	430
ATOSA	BTBD2	Q9BX70	424
ATOSA	ZC3H6	P61129	424
ATOSA	ISG20L2	Q9H9L3	409
ATOSA	KBTBD4	Q9NVX7	407
ATOSA	ZDHHC19	Q8WVZ1	385
ATOSA	IFTAP	Q86VG3	380
ATOSA	WDR72	Q3MJ13	370

IntAct

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

8 partners by confidence:

Partner	Interaction type	MIscore	Records
GOLGA2	physical association	0.560	3
KRT40	physical association	0.560	3
MAGEA6	physical association	0.560	3
MID2	physical association	0.560	3
SSX2IP	physical association	0.560	3
TRIM27	physical association	0.560	3
APC	physical association	0.000	1
CASS4	physical association	0.000	1

Disease & clinical

Genetic variants

Variant evidence for ATOSA: 162 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	139
Likely benign	7
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 1,747):

Position(s)	Effect	Δscore	Sites
15:52582308–52582309	acceptor_loss	1.0000	4
15:52584743	donor_loss	1.0000
15:52584945–52584946	acceptor_loss	1.0000	5
15:52593737–52593738	acceptor_loss	1.0000	6
15:52611185	donor_gain	1.0000
15:52611779	acceptor_gain	1.0000
15:52613671–52613672	donor_loss	1.0000	5
15:52613707	donor_gain	1.0000
15:52613858–52613859	acceptor_loss	1.0000	4
15:52613861	acceptor_gain	1.0000

AlphaMissense

1,459 missense substitutions predicted likely pathogenic (of 7,123 scored), across 366 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
M971	9	0.946	0.996
F1045	8	0.982	0.999
F972	8	0.975	0.998
D1053	8	0.972	0.991
F900	8	0.971	0.999
F198	8	0.960	0.995
F988	8	0.959	0.997
H1024	8	0.957	0.994
F1027	8	0.955	0.999
F962	8	0.951	0.993
F923	8	0.947	0.997
F882	8	0.932	0.988
F910	8	0.921	0.994
F156	8	0.912	0.985
F994	8	0.902	0.990
H914	8	0.890	0.969
D1040	8	0.860	0.955
W127	7	0.980	0.998
E883	7	0.978	0.994
C68	7	0.971	0.991

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	1.66e-06
Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (TCGA)	unfavorable	0.000242

Disease associations

OMIM: gene MIM:620168 | disease phenotypes:

GWAS associations

2 associations:

Study	Trait	p-value
GCST010242_134	HDL cholesterol levels	3e-8
GCST002594_21	Neurofibrillary tangles	5e-6

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:0006797	neurofibrillary tangles measurement
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

54 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases response to substance, increases expression	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance	2
Aflatoxin B1	increases expression	2
GSK-J4	increases expression	1
afuresertib	increases expression	1
chloroacetaldehyde	decreases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
trichostatin A	affects expression	1
methylparaben	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
abrine	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
(+)-JQ1 compound	increases expression	1
1-(4-((2-(2-aminopyrimidin-5-yl)-7-methyl-4-morpholinothieno(3,2-d)pyrimidin-6-yl)methyl)piperazin-1-yl)-2-hydroxypropan-1-one	increases expression	1
Rosiglitazone	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Zoledronic Acid	increases expression	1
Cidofovir	decreases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Cadmium	increases abundance, increases expression	1
Cisplatin	decreases expression	1

Clinical trials (associated diseases)

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