ATOSB

Summary

ATOSB (atos homolog B, HGNC:25666) is a protein-coding gene on chromosome 9p13.3, encoding Atos homolog protein B (Q7L5A3). Transcription regulator that may syncronize transcriptional and translational programs.

Located in nucleus.

Source: NCBI Gene 80256 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 83 total
• GTEx eGene: eQTL in 19 tissues, sQTL in 6 (q < 0.05)
• Constraint (gnomAD): pLI 0.49 (intermediate), LOEUF 0.60 (unconstrained)
• MANE Select transcript: NM_025182
• Notable: 83 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25666
Approved symbol	ATOSB
Name	atos homolog B
Location	9p13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11560, bA182N22.6
Ensembl gene	ENSG00000005238
Ensembl biotype	protein_coding
OMIM	620169
Entrez	80256

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 29 protein_coding, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000322813

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

ENST00000322813, ENST00000378557, ENST00000378561, ENST00000378566, ENST00000488109, ENST00000605104, ENST00000605244, ENST00000605392, ENST00000903792, ENST00000903793, ENST00000903794, ENST00000903795, ENST00000903796, ENST00000903797, ENST00000903798, ENST00000903799, ENST00000903800, ENST00000903801, ENST00000903802, ENST00000919194, ENST00000919195, ENST00000919196, ENST00000919197, ENST00000971394, ENST00000971395, ENST00000971396, ENST00000971397, ENST00000971398, ENST00001017081, ENST00001101143, ENST00001135108

RefSeq mRNA: 1 — MANE Select: NM_025182 NM_025182

CCDS: CCDS6578

Canonical transcript exons

ENST00000322813 — 9 exons

Exon	Start	End
ENSE00001091889	35106538	35106643
ENSE00001091897	35108594	35108737
ENSE00001422512	35107381	35108349
ENSE00003228447	35105682	35105857
ENSE00003296377	35106252	35106410
ENSE00003424246	35105941	35106009
ENSE00003507714	35115805	35115862
ENSE00003685988	35106833	35106891
ENSE00003903780	35104117	35105374

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 93.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.2365 / max 392.7626, expressed in 1789 samples.

Highest expression (Bgee): granulocyte, monocyte, mononuclear cell, leukocyte, blood.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ATOSB is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 19 tissues and its splicing (sQTL) in 6 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 25 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Esophagus Mucosa	eqtl	1.1e-25	+0.29	9:35114397:A:G
Artery Tibial	sqtl	2.3e-12	+0.52	9:35112489:C:T
Artery Tibial	eqtl	6.7e-11	+0.19	9:35112489:C:T
Artery Aorta	eqtl	1.0e-10	+0.27	9:35112489:C:T
Nerve Tibial	eqtl	1.2e-10	-0.20	9:35114397:A:G
Artery Aorta	sqtl	8.2e-10	+0.59	9:35112489:C:T
Skin Sun Exposed Lower leg	eqtl	6.3e-09	+0.21	9:35114397:A:G
Cells Cultured fibroblasts	eqtl	1.1e-08	+0.18	9:35112489:C:T
Testis	eqtl	1.4e-07	+0.33	9:35479261:C:G
Esophagus Muscularis	eqtl	4.7e-07	+0.19	9:35112489:C:T
Adipose Subcutaneous	sqtl	4.8e-06	+0.32	9:35112489:C:T
Adipose Subcutaneous	eqtl	6.2e-06	+0.17	9:35112489:C:T
Esophagus Gastroesophageal Junction	eqtl	2.0e-05	+0.20	9:35112489:C:T
Esophagus Mucosa	sqtl	2.2e-05	+0.40	9:35114397:A:G
Adipose Visceral Omentum	eqtl	2.1e-04	+0.15	9:35112489:C:T
Adrenal Gland	eqtl	2.3e-04	+0.33	9:35149996:G:A
Skin Not Sun Exposed Suprapubic	eqtl	8.8e-04	+0.16	9:35114397:A:G
Muscle Skeletal	eqtl	9.6e-04	-0.08	9:35110493:C:CT
Testis	sqtl	1.5e-02	+1.46	9:36100718:C:T
Colon Sigmoid	eqtl	2.0e-02	+0.58	9:34883915:C:T

FANTOM5 promoters

8 alternative TSS:

Promoter ID	TPM avg	Samples expressed
100575	11.6110	1736
100569	3.2065	1152
100574	1.1280	449
100576	1.0291	661
100570	0.6370	315
100571	0.4238	170
100572	0.1074	44
100573	0.0937	41

Top tissues by expression

showing 100 of 292 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	93.52	gold quality
monocyte	CL:0000576	92.84	gold quality
mononuclear cell	CL:0000842	92.77	gold quality
leukocyte	CL:0000738	92.62	gold quality
blood	UBERON:0000178	91.78	gold quality
lower esophagus mucosa	UBERON:0035834	91.23	gold quality
diaphragm	UBERON:0001103	91.01	gold quality
inferior vagus X ganglion	UBERON:0005363	90.21	gold quality
subthalamic nucleus	UBERON:0001906	90.12	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.94	gold quality
spinal cord	UBERON:0002240	89.79	gold quality
right coronary artery	UBERON:0001625	89.67	gold quality
type B pancreatic cell	CL:0000169	89.45	gold quality
ascending aorta	UBERON:0001496	89.21	gold quality
thoracic aorta	UBERON:0001515	89.15	gold quality
dorsal plus ventral thalamus	UBERON:0001897	89.05	gold quality
left ventricle myocardium	UBERON:0006566	89.01	silver quality
right lung	UBERON:0002167	89.00	gold quality
ileal mucosa	UBERON:0000331	88.85	gold quality
descending thoracic aorta	UBERON:0002345	88.76	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.46	gold quality
apex of heart	UBERON:0002098	88.36	gold quality
esophagus mucosa	UBERON:0002469	88.29	gold quality
stromal cell of endometrium	CL:0002255	88.21	gold quality
aorta	UBERON:0000947	88.10	gold quality
spleen	UBERON:0002106	87.78	gold quality
pharyngeal mucosa	UBERON:0000355	87.70	gold quality
CA1 field of hippocampus	UBERON:0003881	87.59	gold quality
coronary artery	UBERON:0001621	87.54	gold quality
vena cava	UBERON:0004087	87.50	gold quality
pancreatic ductal cell	CL:0002079	87.37	silver quality
popliteal artery	UBERON:0002250	87.36	gold quality
tibial artery	UBERON:0007610	87.36	gold quality
left coronary artery	UBERON:0001626	87.34	gold quality
midbrain	UBERON:0001891	87.30	gold quality
substantia nigra	UBERON:0002038	87.29	gold quality
ventral tegmental area	UBERON:0002691	87.24	gold quality
lateral nuclear group of thalamus	UBERON:0002736	87.20	gold quality
olfactory bulb	UBERON:0002264	87.13	gold quality
bone marrow	UBERON:0002371	87.07	gold quality
medulla oblongata	UBERON:0001896	87.02	gold quality
cardiac muscle of right atrium	UBERON:0003379	86.85	silver quality
hypothalamus	UBERON:0001898	86.83	gold quality
cortical plate	UBERON:0005343	86.74	gold quality
amygdala	UBERON:0001876	86.67	gold quality
myocardium	UBERON:0002349	86.58	silver quality
mucosa of stomach	UBERON:0001199	86.38	gold quality
cingulate cortex	UBERON:0003027	86.38	gold quality
esophagus	UBERON:0001043	86.37	gold quality
mucosa of transverse colon	UBERON:0004991	86.29	gold quality
putamen	UBERON:0001874	86.27	gold quality
anterior cingulate cortex	UBERON:0009835	86.24	gold quality
substantia nigra pars reticulata	UBERON:0001966	86.22	gold quality
right frontal lobe	UBERON:0002810	86.14	gold quality
upper lobe of left lung	UBERON:0008952	86.13	gold quality
prefrontal cortex	UBERON:0000451	86.07	gold quality
superior vestibular nucleus	UBERON:0007227	86.05	gold quality
heart left ventricle	UBERON:0002084	86.01	gold quality
dorsal root ganglion	UBERON:0000044	86.00	gold quality
cardiac ventricle	UBERON:0002082	85.90	gold quality
cardiac atrium	UBERON:0002081	85.78	gold quality
upper lobe of lung	UBERON:0008948	85.67	gold quality
right atrium auricular region	UBERON:0006631	85.65	gold quality
inferior olivary complex	UBERON:0002127	85.64	gold quality
nucleus accumbens	UBERON:0001882	85.63	gold quality
bone marrow cell	CL:0002092	85.54	gold quality
heart	UBERON:0000948	85.41	gold quality
lateral globus pallidus	UBERON:0002476	85.30	gold quality
Brodmann (1909) area 9	UBERON:0013540	85.30	gold quality
caudate nucleus	UBERON:0001873	85.26	gold quality
tongue squamous epithelium	UBERON:0006919	85.07	silver quality
trachea	UBERON:0003126	85.05	silver quality
right adrenal gland	UBERON:0001233	85.02	gold quality
cardia of stomach	UBERON:0001162	84.99	gold quality
substantia nigra pars compacta	UBERON:0001965	84.99	gold quality
transverse colon	UBERON:0001157	84.93	gold quality
right adrenal gland cortex	UBERON:0035827	84.92	gold quality
pons	UBERON:0000988	84.68	gold quality
endometrium epithelium	UBERON:0004811	84.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.66	gold quality
adenohypophysis	UBERON:0002196	84.64	gold quality
pericardium	UBERON:0002407	84.63	silver quality
neocortex	UBERON:0001950	84.61	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	84.60	gold quality
frontal cortex	UBERON:0001870	84.55	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.45	gold quality
lower esophagus	UBERON:0013473	84.41	gold quality
forebrain	UBERON:0001890	84.39	gold quality
lower esophagus muscularis layer	UBERON:0035833	84.38	gold quality
adrenal cortex	UBERON:0001235	84.36	gold quality
gingival epithelium	UBERON:0001949	84.34	gold quality
central nervous system	UBERON:0001017	84.32	gold quality
Brodmann (1909) area 10	UBERON:0013541	84.29	gold quality
pituitary gland	UBERON:0000007	84.25	gold quality
telencephalon	UBERON:0001893	84.20	gold quality
nipple	UBERON:0002030	84.19	gold quality
brain	UBERON:0000955	84.15	gold quality
left adrenal gland cortex	UBERON:0035825	84.09	gold quality
saphenous vein	UBERON:0007318	84.05	gold quality
metanephros cortex	UBERON:0010533	84.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.05

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Bone marrow	tissue	36.6	high
Locus coeruleus	tissue	34.0
Hippocampus	tissue	25.8	high
Spinal cord	tissue	23.9
Postcentral gyrus	tissue	21.4
Thalamus	tissue	20.9
Medulla oblongata	tissue	19.9
Nucleus accumbens	tissue	19.8
Midbrain	tissue	19.8
Substantia nigra	tissue	19.3
Hippocampal formation	tissue	19.2
Pons	tissue	18.3
Prefrontal cortex	tissue	18.1
Cerebral cortex	tissue	18.1	high
Frontal cortex	tissue	17.6
Corpus callosum	tissue	17.5
Insular cortex	tissue	17.5
Superior colliculi	tissue	17.4
Septum	tissue	17.4
Amygdala	tissue	17.3
Hypothalamus	tissue	17.2
Motor cortex	tissue	16.8
Entorhinal cortex	tissue	16.6
Temporal cortex	tissue	16.5
Ventral forebrain	tissue	16.2
Periaqueductal gray	tissue	16.1
Somatosensory cortex	tissue	16.0
Putamen	tissue	15.8
Retrosplenial and cingulate cortex	tissue	15.6
Pituitary gland	tissue	15.4
Basal ganglia	tissue	15.2	medium
Retrosplenial cortex	tissue	15.2
Heart muscle	tissue	15.1	medium
Choroid plexus	tissue	14.9
Occipital cortex	tissue	14.9
Esophagus	tissue	14.5	medium
Vagina	tissue	14.3	low
Spleen	tissue	14.0	medium
Olfactory bulb	tissue	11.7
Adipose tissue	tissue	11.5	medium
Appendix	tissue	11.5	low
Lung	tissue	11.1	medium
Gallbladder	tissue	11.0	medium
Tongue	tissue	10.9
Colon	tissue	10.7	low
Urinary bladder	tissue	10.6	medium
Cerebellum	tissue	10.6	low
Parathyroid gland	tissue	10.5	medium
Smooth muscle	tissue	10.3	not detected
Skin 1	tissue	9.8	not detected
Rectum	tissue	9.8	medium
Small intestine	tissue	9.7	low
Stomach 1	tissue	9.6	medium
Duodenum	tissue	9.6	medium
Placenta	tissue	9.3	high
Seminal vesicle	tissue	9.1	medium
Caudate putamen	tissue	8.8
Adrenal gland	tissue	7.9	medium
Skeletal muscle	tissue	7.8	medium
Thyroid gland	tissue	7.8	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Anterior thalamic nucleus, ventral (37.3), Nucleus raphe pallidus (37.1), Area postrema (36.5), Ventral posteromedial thalamic nucleus (35.6), Ventral thalamic nuclei (35.3).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

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

showing 30 of 73 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4534	99.99	66.58	1907
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-11181-3P	99.75	66.38	2205

Functional genomics

gnomAD constraint: pLI 0.491, LOEUF 0.605, missense Z 0.601 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000322813 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
9:35,105,224–35,106,572	182 / 262.2	0.69	no
9:35,106,573–35,108,274	442 / 440.8	1.00	no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	atosb	ENSDARG00000068650
mus_musculus	Atosb	ENSMUSG00000036002
rattus_norvegicus	Atosb	ENSRNOG00000009323

Paralogs (1): ATOSA (ENSG00000047346)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2441854) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 5 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased erythrocyte cell number	1
thrombocytopenia	1
increased mean corpuscular hemoglobin	1
increased mean corpuscular hemoglobin concentration	1
decreased prepulse inhibition	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	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
PIGO-AS1	ncRNA	121847984
STOML2	protein-coding	30968
PIGO	protein-coding	84720
FANCG	protein-coding	2189
VCP	protein-coding	7415
UNC13B	protein-coding	10497

Protein

Protein identifiers

Atos homolog protein B — Q7L5A3 (reviewed: Q7L5A3)

All UniProt accessions (1): Q7L5A3

UniProt curated annotations — full annotation on UniProt →

Function. Transcription regulator that may syncronize transcriptional and translational programs.

Subcellular location. Nucleus.

Domain organisation. The protein contains a transactivation domain (TAD) which may be required for transcriptional activation of a subset of target genes.

Similarity. Belongs to the ATOS family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q7L5A3-1	1	yes
Q7L5A3-2	2
Q7L5A3-3	3

RefSeq proteins (1): NP_079458* (*=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 (12 total): region of interest 4, splice variant 2, compositionally biased region 2, modified residue 2, chain 1, sequence conflict 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L5A3-F1	56.25	0.23

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoli fibrillar center; nucleoplasm

Antibody reliability (HPA): IH approved · 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.

Post-translational modifications (2)

Type	Positions
Phosphoserine	254, 255

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: 175 (showing top): RNGTGGGC_UNKNOWN, SP3_Q3, MODULE_45, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_16, GGGTGGRR_PAX4_03, USF_C, MODULE_66, MODULE_118, BROWNE_HCMV_INFECTION_48HR_DN, MODULE_379, GROSS_HYPOXIA_VIA_ELK3_UP, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, chr9p13, HIF1_Q3

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

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 2 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
nucleus	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 288 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATOSB	RHNO1	Q9BSD3	512
ATOSB	OBI1	Q5W0B1	496
ATOSB	ZNHIT1	O43257	484
ATOSB	TAF13	Q15543	479
ATOSB	USP6NL	Q92738	462
ATOSB	CEBPZOS	A8MTT3	458
ATOSB	CENPT	Q96BT3	458
ATOSB	ATP11C	Q8NB49	456
ATOSB	DGKA	P23743	450
ATOSB	SPATA6	Q9NWH7	447
ATOSB	SCAPER	Q9BY12	442
ATOSB	RAPH1	Q70E73	441
ATOSB	TENT5A	Q96IP4	440
ATOSB	TMEM87B	Q96K49	439
ATOSB	HYCC2	Q8IXS8	429

IntAct

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

showing 30 of 63 partners by confidence:

Partner	Interaction type	MIscore	Records
IKZF1	physical association	0.800	9
TRIM27	physical association	0.780	7
CEP70	physical association	0.740	5
FHL5	physical association	0.740	5
TRAF4	physical association	0.740	5
KIF20A	physical association	0.670	4
MDFI	physical association	0.670	4
BAG4	physical association	0.560	5
DNAJA3	physical association	0.560	5
ABI2	physical association	0.560	3
AKAP8L	physical association	0.560	3
CALCOCO2	physical association	0.560	3
CCDC125	physical association	0.560	3
CDC5	physical association	0.560	3
CYSRT1	physical association	0.560	3
DIP2A	physical association	0.560	3
EFHC2	physical association	0.560	3
EYA2	physical association	0.560	3
FHL2	physical association	0.560	3
GOLGA2	physical association	0.560	3
GPRASP3	physical association	0.560	3
HSF2BP	physical association	0.560	3
HSPB8	physical association	0.560	3
KPNA3	physical association	0.560	3
KPNA5	physical association	0.560	3
KRT34	physical association	0.560	3
KRTAP19-5	physical association	0.560	3
KRTAP19-6	physical association	0.560	3
KRTAP6-2	physical association	0.560	3
KRTAP6-3	physical association	0.560	3

Disease & clinical

Genetic variants

Variant evidence for ATOSB: 83 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	4
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 28 predictions of 716):

Position(s)	Effect	Δscore	Sites
9:35105799	acceptor_gain	1.0000
9:35105858–35105859	acceptor_loss	1.0000	2
9:35106010–35106011	acceptor_loss	1.0000	4
9:35106832	donor_loss	1.0000
9:35106892–35106893	acceptor_loss	1.0000	6
9:35106904	acceptor_gain	1.0000
9:35108738–35108739	acceptor_loss	1.0000	3
9:35105375–35105376	acceptor_loss	0.9900	2
9:35105680–35105681	donor_loss	0.9900	5
9:35105858–35105859	acceptor_loss	0.9900	3

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
Thyroid Carcinoma (TCGA)	unfavorable	5.85e-05

Disease associations

OMIM: gene MIM:620169 | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST006295_11	Response to quetiapine in schizophrenia	9e-6

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects cotreatment, decreases expression	5
trichostatin A	affects cotreatment, decreases expression	2
sodium arsenite	decreases expression, increases expression	2
entinostat	decreases expression, affects cotreatment	2
Air Pollutants	increases abundance, affects expression, affects cotreatment, decreases expression	2
Estradiol	decreases expression, affects cotreatment, increases expression	2
Ozone	affects cotreatment, decreases expression, increases abundance, affects expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	decreases expression	1
methacrylaldehyde	increases abundance, affects cotreatment, decreases expression	1
15-acetyldeoxynivalenol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Vehicle Emissions	increases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Calcitriol	increases expression, affects cotreatment	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1

Clinical trials (associated diseases)

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