CIART

Summary

CIART (circadian associated repressor of transcription, HGNC:25200) is a protein-coding gene on chromosome 1q21.2, encoding Circadian-associated transcriptional repressor (Q8N365). Transcriptional repressor which forms a negative regulatory component of the circadian clock and acts independently of the circadian transcriptional repressors: CRY1, CRY2 and BHLHE41.

Predicted to enable E-box binding activity. Predicted to be involved in circadian regulation of gene expression; locomotor rhythm; and negative regulation of DNA-templated transcription. Predicted to be located in PML body. Predicted to be active in nucleus.

Source: NCBI Gene 148523 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 57 total
• GTEx eGene: eQTL in 5 tissues, sQTL in 4 (q < 0.05)
• Constraint (gnomAD): pLI 0.82 (intermediate), LOEUF 0.61 (unconstrained)
• MANE Select transcript: NM_144697
• Notable: 57 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25200
Approved symbol	CIART
Name	circadian associated repressor of transcription
Location	1q21.2
Locus type	gene with protein product
Status	Approved
Aliases	BC017397, CHRONO
Ensembl gene	ENSG00000159208
Ensembl biotype	protein_coding
OMIM	615782
Entrez	148523

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000290363

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

ENST00000290363, ENST00000369094, ENST00000369095, ENST00000417398, ENST00000447007, ENST00000469255, ENST00000497211, ENST00001145747

RefSeq mRNA: 5 — MANE Select: NM_144697 NM_001300838, NM_001300839, NM_001300840, NM_001300841, NM_144697

CCDS: CCDS72906, CCDS949

Canonical transcript exons

ENST00000290363 — 5 exons

Exon	Start	End
ENSE00001044201	150283805	150283880
ENSE00001187300	150282554	150283633
ENSE00001418861	150286430	150287093
ENSE00003578505	150284597	150284708
ENSE00003648991	150284426	150284504

Expression profiles

Bgee: expression breadth ubiquitous, 216 present calls, max score 94.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1330 / max 98.7829, expressed in 1183 samples.

Highest expression (Bgee): oocyte, mucosa of stomach, skin of abdomen, secondary oocyte, skin of leg.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CIART is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 5 tissues and its splicing (sQTL) in 4 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

9 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Spleen	sqtl	4.1e-03	+1.31	1:150649599:A:G
Whole Blood	eqtl	1.3e-02	+0.23	1:149747336:G:A
Muscle Skeletal	eqtl	2.4e-02	+0.30	1:150376722:G:A
Cells Cultured fibroblasts	eqtl	2.4e-02	-0.19	1:150301549:A:G
Artery Aorta	sqtl	2.5e-02	+1.06	1:150157249:C:T
Cells EBV-transformed lymphocytes	eqtl	2.9e-02	-0.58	1:151179486:C:G
Skin Sun Exposed Lower leg	sqtl	3.8e-02	+0.66	1:150474398:CT:C
Nerve Tibial	eqtl	3.8e-02	+0.20	1:149843969:T:C
Lung	sqtl	4.2e-02	+0.81	1:150162697:G:A

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
5088	6.1330	1183

Top tissues by expression

showing 100 of 247 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	94.95	gold quality
mucosa of stomach	UBERON:0001199	93.94	gold quality
skin of abdomen	UBERON:0001416	90.92	gold quality
secondary oocyte	CL:0000655	90.76	gold quality
skin of leg	UBERON:0001511	90.35	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.30	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.44	gold quality
muscle of leg	UBERON:0001383	89.36	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.28	gold quality
caudate nucleus	UBERON:0001873	89.24	gold quality
lower esophagus	UBERON:0013473	89.19	gold quality
gastrocnemius	UBERON:0001388	89.12	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.56	gold quality
cerebellar hemisphere	UBERON:0002245	88.46	gold quality
cerebellar cortex	UBERON:0002129	88.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.28	gold quality
zone of skin	UBERON:0000014	88.26	gold quality
putamen	UBERON:0001874	87.82	gold quality
adenohypophysis	UBERON:0002196	87.56	gold quality
apex of heart	UBERON:0002098	87.16	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.95	gold quality
cerebellum	UBERON:0002037	86.94	gold quality
nucleus accumbens	UBERON:0001882	86.59	gold quality
tibial artery	UBERON:0007610	86.27	gold quality
popliteal artery	UBERON:0002250	86.20	gold quality
quadriceps femoris	UBERON:0001377	86.11	gold quality
vastus lateralis	UBERON:0001379	85.25	gold quality
right adrenal gland cortex	UBERON:0035827	84.91	gold quality
deltoid	UBERON:0001476	84.59	silver quality
right frontal lobe	UBERON:0002810	84.21	gold quality
right adrenal gland	UBERON:0001233	84.05	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.98	gold quality
left uterine tube	UBERON:0001303	83.96	gold quality
tibialis anterior	UBERON:0001385	83.93	silver quality
left adrenal gland cortex	UBERON:0035825	83.79	gold quality
pituitary gland	UBERON:0000007	83.57	gold quality
ventricular zone	UBERON:0003053	83.51	gold quality
body of stomach	UBERON:0001161	83.48	gold quality
upper arm skin	UBERON:0004263	83.21	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	82.99	gold quality
left adrenal gland	UBERON:0001234	82.88	gold quality
anterior cingulate cortex	UBERON:0009835	82.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.49	gold quality
aorta	UBERON:0000947	82.48	gold quality
calcaneal tendon	UBERON:0003701	82.44	gold quality
skeletal muscle tissue	UBERON:0001134	82.36	gold quality
esophagus	UBERON:0001043	82.26	gold quality
adrenal cortex	UBERON:0001235	82.03	gold quality
hypothalamus	UBERON:0001898	81.74	gold quality
right coronary artery	UBERON:0001625	81.34	gold quality
prefrontal cortex	UBERON:0000451	81.24	gold quality
buccal mucosa cell	CL:0002336	81.13	silver quality
smooth muscle tissue	UBERON:0001135	80.97	gold quality
skin of hip	UBERON:0001554	80.94	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.90	gold quality
right lung	UBERON:0002167	80.89	gold quality
adrenal gland	UBERON:0002369	80.60	gold quality
amygdala	UBERON:0001876	80.47	gold quality
right lobe of liver	UBERON:0001114	80.42	gold quality
seminal vesicle	UBERON:0000998	80.10	gold quality
muscle tissue	UBERON:0002385	80.09	gold quality
right atrium auricular region	UBERON:0006631	80.07	gold quality
forebrain	UBERON:0001890	80.02	gold quality
brain	UBERON:0000955	79.98	gold quality
neocortex	UBERON:0001950	79.85	gold quality
heart left ventricle	UBERON:0002084	79.82	gold quality
descending thoracic aorta	UBERON:0002345	79.80	gold quality
left ovary	UBERON:0002119	79.73	gold quality
amniotic fluid	UBERON:0000173	79.48	gold quality
frontal cortex	UBERON:0001870	79.28	gold quality
cardiac ventricle	UBERON:0002082	79.25	gold quality
stomach	UBERON:0000945	79.22	gold quality
islet of Langerhans	UBERON:0000006	79.21	gold quality
upper leg skin	UBERON:0004262	79.15	gold quality
ectocervix	UBERON:0012249	78.95	gold quality
tibial nerve	UBERON:0001323	78.61	gold quality
cardiac atrium	UBERON:0002081	78.52	gold quality
fundus of stomach	UBERON:0001160	78.46	gold quality
stromal cell of endometrium	CL:0002255	78.45	gold quality
body of uterus	UBERON:0009853	78.42	gold quality
heart	UBERON:0000948	78.41	gold quality
right ovary	UBERON:0002118	78.41	gold quality
cortical plate	UBERON:0005343	78.33	gold quality
middle temporal gyrus	UBERON:0002771	78.09	silver quality
cerebral cortex	UBERON:0000956	78.02	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	77.97	silver quality
thoracic aorta	UBERON:0001515	77.87	gold quality
left coronary artery	UBERON:0001626	77.87	gold quality
ascending aorta	UBERON:0001496	77.86	gold quality
left testis	UBERON:0004533	77.80	gold quality
primary visual cortex	UBERON:0002436	77.60	gold quality
left lobe of thyroid gland	UBERON:0001120	77.59	gold quality
right uterine tube	UBERON:0001302	77.44	gold quality
ovary	UBERON:0000992	77.26	gold quality
cerebellar vermis	UBERON:0004720	77.25	silver quality
coronary artery	UBERON:0001621	76.79	gold quality
testis	UBERON:0000473	76.72	gold quality
lower esophagus mucosa	UBERON:0035834	76.63	gold quality
esophagus mucosa	UBERON:0002469	76.47	gold quality
right testis	UBERON:0004534	76.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-8060	yes	368.62
E-ANND-3	yes	3.01

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 77 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Skeletal muscle	tissue	50.7	not detected
Tongue	tissue	43.3
Caudate putamen	tissue	39.5
Frontal cortex	tissue	34.6
Parathyroid gland	tissue	30.1	medium
Heart muscle	tissue	27.5	medium
Seminal vesicle	tissue	22.5	medium
Basal ganglia	tissue	22.1	low
Spinal cord	tissue	22.1
Nucleus accumbens	tissue	21.9
Retina	tissue	20.6
Choroid plexus	tissue	19.7
Putamen	tissue	19.5
Postcentral gyrus	tissue	18.4
Cerebral cortex	tissue	18.2	low
Occipital cortex	tissue	18.2
Thyroid gland	tissue	17.8	medium
Cerebellum	tissue	17.4	not detected
Pituitary gland	tissue	17.0
Olfactory bulb	tissue	16.8
Salivary gland	tissue	16.7	low
Somatosensory cortex	tissue	16.5
Ventral forebrain	tissue	16.4
Superior colliculi	tissue	16.3
Medulla oblongata	tissue	15.8
Pons	tissue	15.5
Thalamus	tissue	15.2
Hippocampal formation	tissue	15.1
Entorhinal cortex	tissue	15.1
Prefrontal cortex	tissue	14.7
Midbrain	tissue	14.2
Retrosplenial and cingulate cortex	tissue	13.7
Septum	tissue	13.5
Motor cortex	tissue	13.1
Periaqueductal gray	tissue	13.0
Insular cortex	tissue	13.0
Retrosplenial cortex	tissue	12.9
Hypothalamus	tissue	12.8
Liver	tissue	12.8	low
Temporal cortex	tissue	12.3
Substantia nigra	tissue	11.9
Adrenal gland	tissue	10.7	medium
Ovary	tissue	10.6	high
Hippocampus	tissue	9.9	not detected
Kidney	tissue	9.5	medium
Epididymis	tissue	8.8	medium
Locus coeruleus	tissue	8.8
Corpus callosum	tissue	8.5
Smooth muscle	tissue	8.4	not detected
Amygdala	tissue	8.2
Endometrium 1	tissue	7.8	low
Esophagus	tissue	7.7	medium
Skin 1	tissue	7.5	low
Vagina	tissue	7.5	not detected
Prostate	tissue	7.4	medium
Testis	tissue	7.3	medium
Breast	tissue	7.1	low
Fallopian tube	tissue	6.6	medium
Stomach 1	tissue	6.5	medium
Adipose tissue	tissue	5.6	not detected

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Caudate nucleus (28.3), Vermis (23.5), Cerebellar cortex (22.9), Flocculonodular lobe (22.8), Ventral spinal cord (22.1).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BMAL1, CLOCK, FOXC1

miRNA regulators (miRDB)

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

15 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-4731-3P	98.56	68.60	1860
HSA-MIR-633	98.35	69.45	1167
HSA-MIR-331-5P	96.59	67.94	705

Functional genomics

gnomAD constraint: pLI 0.824, LOEUF 0.606, missense Z 0.857 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000290363 — one region, missense o/e 0.92.

Literature-anchored findings (GeneRIF, showing 2)

• Study shows that:1- Chrono is a circadian clock gene whose transcription exhibits a robust circadian oscillation. 2- Is is a repressor of circadian transcriptional/translational feedback loops. 3- It may function to link epigenetic control mechanisms to stress responses. [review] (PMID:28010116)
• A multi-organoid platform identifies CIART as a key factor for SARS-CoV-2 infection. (PMID:36918693)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ciarta	ENSDARG00000058094
mus_musculus	Ciart	ENSMUSG00000038550
rattus_norvegicus	Ciart	ENSRNOG00000042717

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2684975) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.

Mouse phenotype (MP)	Records
prolonged circadian behavior period	2
increased circulating corticosterone level	1
abnormal homeostasis	1

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
MRPS21	protein-coding	54460
C1orf54	protein-coding	79630
PRPF3	protein-coding	9129
SNORD13C	snoRNA	109616989
CA14	protein-coding	23632
APH1A	protein-coding	51107
RPRD2	protein-coding	23248

Protein

Protein identifiers

Circadian-associated transcriptional repressor — Q8N365 (reviewed: Q8N365)

Alternative names: ChIP-derived repressor of network oscillator, Computationally highlighted repressor of the network oscillator

All UniProt accessions (4): A0A1B0GX20, Q8N365, Q5TB12, Q5TB13

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor which forms a negative regulatory component of the circadian clock and acts independently of the circadian transcriptional repressors: CRY1, CRY2 and BHLHE41. In a histone deacetylase-dependent manner represses the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Abrogates the interaction of BMAL1 with the transcriptional coactivator CREBBP and can repress the histone acetyl-transferase activity of the CLOCK-BMAL1 heterodimer, reducing histone acetylation of its target genes. Rhythmically binds the E-box elements (5’-CACGTG-3’) on circadian gene promoters and its occupancy shows circadian oscillation antiphasic to BMAL1. Interacts with the glucocorticoid receptor (NR3C1) and contributes to the repressive function in the glucocorticoid response.

Subunit / interactions. Interacts with PER2, CRY2, BHLHE41, HDAC1 and NR3C1. Interacts with BMAL1.

Subcellular location. Nucleus. PML body.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N365-1	1	yes
Q8N365-2	2

RefSeq proteins (5): NP_001287767, NP_001287768, NP_001287769, NP_001287770, NP_653298* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031373	Ciart	Family

Pfam: PF15673

UniProt features (10 total): region of interest 3, compositionally biased region 3, splice variant 2, chain 1, sequence conflict 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N365-F1	55.07	0.09

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH enhanced · 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: 75 (showing top): GOBP_CIRCADIAN_RHYTHM, BENPORATH_ES_WITH_H3K27ME3, WWTAAGGC_UNKNOWN, GOBP_BEHAVIOR, TGACCTY_ERR1_Q2, GOBP_CIRCADIAN_REGULATION_OF_GENE_EXPRESSION, GGGTGGRR_PAX4_03, USF_C, LYF1_01, GOBP_RHYTHMIC_BEHAVIOR, CREBP1_01, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, AR_01, chr1q21, GOCC_NUCLEAR_BODY

GO Biological Process (5): DNA-templated transcription (GO:0006351), circadian regulation of gene expression (GO:0032922), locomotor rhythm (GO:0045475), negative regulation of DNA-templated transcription (GO:0045892), rhythmic process (GO:0048511)

GO Molecular Function (4): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), E-box binding (GO:0070888), transcription cis-regulatory region binding (GO:0000976), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), PML body (GO:0016605)

GO top-level categories

18 GO namespaces:

Category	Terms
gene expression	1
RNA biosynthetic process	1
circadian rhythm	1
regulation of gene expression	1
locomotory behavior	1
circadian behavior	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
biological_process	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
RNA polymerase II cis-regulatory region sequence-specific DNA binding	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear body	1

Protein interactions and networks

STRING

showing 15 of 518 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CIART	CRY2	Q49AN0	691
CIART	PER3	P56645	660
CIART	NR1D2	Q14995	646
CIART	NPAS2	Q99743	638
CIART	PER2	O15055	622
CIART	BHLHE41	Q9C0J9	611
CIART	BMAL1	O00327	605
CIART	CRY1	Q16526	601
CIART	NR1D1	P20393	592
CIART	CLOCK	O15516	549
CIART	TEF	Q10587	534
CIART	NFIL3	Q16649	519
CIART	CIPC	Q9C0C6	516
CIART	BHLHE40	O14503	508
CIART	NPAS4	Q8IUM7	490

IntAct

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

8 partners by confidence:

Partner	Interaction type	MIscore	Records
CASP6	physical association	0.560	3
DAB1	physical association	0.560	3
LAMP2	physical association	0.560	3
NFYC	physical association	0.560	3
IGHA2	association	0.530	1
CLOCK	association	0.350	1
OGT	association	0.350	1
UQCRQ	association	0.350	1

BioGRID (20 interactions; top human partners by supporting records): IGHA2 (Affinity Capture-MS; 3 records), TPM2 (Affinity Capture-MS; 2 records), ZG16B (Affinity Capture-MS; 2 records), APP (Reconstituted Complex), BLVRA (Affinity Capture-MS), DAB1 (Two-hybrid), FBXL13 (Affinity Capture-MS), HIBCH (Affinity Capture-MS), NFYC (Two-hybrid), OGT (Affinity Capture-MS), PARP1 (Proximity Label-MS), PARP2 (Proximity Label-MS), PNPT1 (Affinity Capture-MS), RNF8 (Proximity Label-MS), SPRYD4 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for CIART: 57 ClinVar records (0 pathogenic / likely pathogenic); 16 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	4
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 32 predictions of 393):

Position(s)	Effect	Δscore	Sites
1:150282619	donor_loss	1.0000	2
1:150283803–150283804	acceptor_loss	1.0000	4
1:150283881–150283882	donor_loss	1.0000	5
1:150284424–150284425	acceptor_loss	1.0000	6
1:150284505–150284506	donor_loss	1.0000	4
1:150286428–150286429	acceptor_loss	1.0000	6
1:150282620	donor_loss	0.9900	2
1:150283802	acceptor_gain	0.9900
1:150283803	acceptor_loss	0.9900
1:150284417	acceptor_gain	0.9900

AlphaMissense

428 missense substitutions predicted likely pathogenic (of 2,494 scored), across 93 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
M187	9	0.897	0.995
F119	8	0.984	0.998
D159	8	0.982	0.993
F192	8	0.964	0.997
F152	8	0.963	0.995
D116	8	0.881	0.948
M158	8	0.783	0.839
H262	8	0.750	0.873
W191	7	0.987	0.998
R160	7	0.982	0.996
F145	7	0.981	0.992
F129	7	0.978	0.996
C123	7	0.974	0.989
E185	7	0.936	0.987
K122	7	0.922	0.995
Q153	7	0.911	0.994
S150	7	0.888	0.993
I164	7	0.885	0.994
W260	7	0.866	0.967
M173	7	0.856	0.908

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 Papillary Cell Carcinoma (TCGA)	favorable	6.31e-05
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000982

Disease associations

OMIM: gene MIM:615782 | disease phenotypes:

GWAS associations

16 associations:

Study	Trait	p-value
GCST010700_28	Cortical thickness (MOSTest)	8e-38
GCST010696_2	Cortical thickness (min-P)	2e-23
GCST90002404_224	Red cell distribution width	2e-13
GCST90000582_5	Spontaneous coronary artery dissection	2e-12
GCST010701_57	Cortical surface area (MOSTest)	9e-12
GCST010703_294	Brain morphology (MOSTest)	9e-12
GCST90000583_1	Spontaneous coronary artery dissection	1e-11
GCST002539_13	Schizophrenia	4e-10
GCST010702_101	Subcortical volume (MOSTest)	4e-9
GCST003184_16	Atopic dermatitis	5e-9
GCST010697_28	Cortical surface area (min-P)	9e-9
GCST010698_54	Subcortical volume (min-P)	2e-8
GCST010204_96	Low density lipoprotein cholesterol levels	3e-8
GCST010699_28	Brain morphology (min-P)	3e-8
GCST008103_8	Bipolar disorder	5e-8
GCST003184_26	Atopic dermatitis	1e-7

EFO canonical traits (from GWAS)

4 canonical traits:

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation	7
arsenite	increases methylation, affects binding, increases reaction	2
Benzo(a)pyrene	increases expression, affects methylation	2
sotorasib	affects cotreatment, decreases expression	1
bisphenol A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
zinc chromate	increases abundance, increases expression	1
manganese chloride	increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
ferrous chloride	increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases expression	1
trametinib	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Acetaminophen	increases expression	1
Cadmium	decreases expression	1
Carbamazepine	affects expression	1
Doxorubicin	decreases expression	1
Lead	decreases expression	1
Manganese	increases abundance, increases expression	1
Oxygen	increases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	increases expression	1

Clinical trials (associated diseases)

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