SWT1

Summary

SWT1 (SWT1 RNA endoribonuclease homolog, HGNC:16785) is a protein-coding gene on chromosome 1q25.3, encoding Transcriptional protein SWT1 (Q5T5J6).

Predicted to be active in nucleus.

Source: NCBI Gene 54823 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 134 total
• Regional missense constraint (gnomAD): 2 of 6 regions constrained (≈4% of expected missense variation)
• GTEx eGene: eQTL in 15 tissues, sQTL in 2 (q < 0.05)
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.45 (moderately constrained)
• MANE Select transcript: NM_017673
• Notable: 134 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16785
Approved symbol	SWT1
Name	SWT1 RNA endoribonuclease homolog
Location	1q25.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20121, HsSwt1
Ensembl gene	ENSG00000116668
Ensembl biotype	protein_coding
OMIM	619513
Entrez	54823

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 30 protein_coding

MANE Select: ENST00000367500

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

ENST00000367500, ENST00000367501, ENST00000450350, ENST00000860004, ENST00000860005, ENST00000860006, ENST00000860007, ENST00000860008, ENST00000860009, ENST00000860010, ENST00000860011, ENST00000932220, ENST00000932221, ENST00000932222, ENST00000932223, ENST00000932224, ENST00000952356, ENST00000952357, ENST00000952358, ENST00000952359, ENST00001107733, ENST00001107734, ENST00001107735, ENST00001116018, ENST00001117185, ENST00001117186, ENST00001117187, ENST00001117188, ENST00001122920, ENST00001145222

RefSeq mRNA: 2 — MANE Select: NM_017673 NM_001105518, NM_017673

CCDS: CCDS1367

Canonical transcript exons

ENST00000367500 — 19 exons

Exon	Start	End
ENSE00000790763	185276604	185276668
ENSE00000822942	185206625	185206763
ENSE00000822943	185214507	185214655
ENSE00000822944	185221849	185222036
ENSE00000822948	185231577	185231708
ENSE00000822949	185271323	185271389
ENSE00000922205	185181946	185182057
ENSE00000959346	185180391	185180450
ENSE00000959347	185184243	185184344
ENSE00000959348	185184743	185184931
ENSE00000959349	185190549	185190642
ENSE00000959350	185202654	185202799
ENSE00000959351	185204700	185204863
ENSE00001127877	185174372	185175113
ENSE00001127885	185168340	185168398
ENSE00001127892	185166572	185166652
ENSE00001353785	185157167	185157314
ENSE00001444775	185290674	185291781
ENSE00001444785	185160833	185160925

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 93.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1124 / max 108.5483, expressed in 1666 samples.

Highest expression (Bgee): sperm, secondary oocyte, calcaneal tendon, oocyte, primordial germ cell in gonad.

Genetic regulation across tissues (GTEx eQTL / sQTL)

SWT1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 15 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

17 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	sqtl	3.0e-53	+1.16	1:185267380:G:A
Nerve Tibial	eqtl	1.8e-17	+0.28	1:185209800:A:C
Pancreas	eqtl	3.3e-10	-0.95	1:185157866:T:C
Brain Nucleus accumbens basal ganglia	eqtl	2.2e-03	+0.26	1:185150717:T:C
Adrenal Gland	eqtl	9.9e-03	+0.20	1:185407633:A:G
Spleen	eqtl	1.1e-02	+0.79	1:184972064:C:A
Cells Cultured fibroblasts	eqtl	1.6e-02	+0.08	1:185284658:T:G
Thyroid	eqtl	1.7e-02	+0.30	1:184499328:A:T
Thyroid	sqtl	1.8e-02	-0.61	1:184672951:T:C
Muscle Skeletal	eqtl	2.0e-02	+0.13	1:185183318:G:A
Adipose Visceral Omentum	eqtl	2.7e-02	+0.23	1:185915963:G:A
Skin Sun Exposed Lower leg	eqtl	2.7e-02	-0.21	1:184991666:G:A
Artery Tibial	eqtl	3.9e-02	+0.16	1:185272661:A:G
Brain Putamen basal ganglia	eqtl	3.9e-02	+0.94	1:185800751:T:C
Brain Hypothalamus	eqtl	4.7e-02	+0.98	1:184567837:C:T
Brain Substantia nigra	eqtl	4.8e-02	+0.86	1:184664343:TCTC:T
Minor Salivary Gland	eqtl	4.9e-02	+0.34	1:185956670:T:A

FANTOM5 promoters

8 alternative TSS:

Promoter ID	TPM avg	Samples expressed
7248	2.0886	965
7249	1.7462	950
7247	1.4458	731
7246	0.4075	192
7245	0.2396	70
7250	0.1252	40
7244	0.0530	9
7243	0.0063	3

Top tissues by expression

showing 100 of 238 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	93.51	gold quality
secondary oocyte	CL:0000655	92.80	gold quality
calcaneal tendon	UBERON:0003701	88.18	gold quality
oocyte	CL:0000023	87.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.03	gold quality
left testis	UBERON:0004533	85.02	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.01	gold quality
right testis	UBERON:0004534	84.70	gold quality
testis	UBERON:0000473	84.43	gold quality
sural nerve	UBERON:0015488	82.00	gold quality
cortical plate	UBERON:0005343	81.60	gold quality
body of pancreas	UBERON:0001150	80.78	gold quality
tibialis anterior	UBERON:0001385	80.21	silver quality
ganglionic eminence	UBERON:0004023	80.05	gold quality
left ventricle myocardium	UBERON:0006566	79.68	gold quality
pancreas	UBERON:0001264	78.21	gold quality
ileal mucosa	UBERON:0000331	77.86	gold quality
bone marrow cell	CL:0002092	77.80	gold quality
ventricular zone	UBERON:0003053	77.37	gold quality
monocyte	CL:0000576	77.14	gold quality
deltoid	UBERON:0001476	77.12	silver quality
leukocyte	CL:0000738	76.96	gold quality
bone marrow	UBERON:0002371	76.80	gold quality
corpus callosum	UBERON:0002336	76.32	gold quality
islet of Langerhans	UBERON:0000006	75.41	gold quality
trabecular bone tissue	UBERON:0002483	74.96	gold quality
adrenal tissue	UBERON:0018303	74.50	gold quality
smooth muscle tissue	UBERON:0001135	74.38	gold quality
adult organism	UBERON:0007023	74.29	gold quality
colonic epithelium	UBERON:0000397	74.04	gold quality
placenta	UBERON:0001987	73.89	gold quality
muscle of leg	UBERON:0001383	73.73	gold quality
gastrocnemius	UBERON:0001388	73.44	gold quality
stromal cell of endometrium	CL:0002255	73.43	gold quality
body of stomach	UBERON:0001161	73.42	gold quality
upper arm skin	UBERON:0004263	73.34	gold quality
rectum	UBERON:0001052	72.98	gold quality
gall bladder	UBERON:0002110	72.97	gold quality
stomach	UBERON:0000945	72.86	gold quality
blood	UBERON:0000178	72.84	gold quality
hindlimb stylopod muscle	UBERON:0004252	72.83	gold quality
left ovary	UBERON:0002119	72.49	gold quality
right adrenal gland	UBERON:0001233	72.26	gold quality
cartilage tissue	UBERON:0002418	72.19	gold quality
right coronary artery	UBERON:0001625	72.16	gold quality
right adrenal gland cortex	UBERON:0035827	72.14	gold quality
popliteal artery	UBERON:0002250	72.12	gold quality
tibial artery	UBERON:0007610	72.10	gold quality
omental fat pad	UBERON:0010414	72.05	gold quality
peritoneum	UBERON:0002358	72.02	gold quality
muscle tissue	UBERON:0002385	72.02	gold quality
tibial nerve	UBERON:0001323	71.96	gold quality
granulocyte	CL:0000094	71.94	gold quality
descending thoracic aorta	UBERON:0002345	71.89	gold quality
ovary	UBERON:0000992	71.86	gold quality
mucosa of stomach	UBERON:0001199	71.83	gold quality
tonsil	UBERON:0002372	71.82	gold quality
right ovary	UBERON:0002118	71.76	gold quality
left adrenal gland	UBERON:0001234	71.64	gold quality
adipose tissue of abdominal region	UBERON:0007808	71.51	gold quality
adrenal gland	UBERON:0002369	71.49	gold quality
left coronary artery	UBERON:0001626	71.46	gold quality
aorta	UBERON:0000947	71.45	gold quality
left adrenal gland cortex	UBERON:0035825	71.18	gold quality
tendon	UBERON:0000043	71.16	gold quality
jejunal mucosa	UBERON:0000399	71.13	gold quality
body of uterus	UBERON:0009853	71.13	gold quality
saliva-secreting gland	UBERON:0001044	71.03	gold quality
subcutaneous adipose tissue	UBERON:0002190	70.98	gold quality
endocervix	UBERON:0000458	70.96	gold quality
coronary artery	UBERON:0001621	70.95	gold quality
skeletal muscle tissue	UBERON:0001134	70.93	gold quality
minor salivary gland	UBERON:0001830	70.93	gold quality
ectocervix	UBERON:0012249	70.80	gold quality
thoracic aorta	UBERON:0001515	70.70	gold quality
epithelial cell of pancreas	CL:0000083	70.67	gold quality
adrenal cortex	UBERON:0001235	70.67	gold quality
heart	UBERON:0000948	70.62	gold quality
adult mammalian kidney	UBERON:0000082	70.59	gold quality
metanephros	UBERON:0000081	70.55	gold quality
ascending aorta	UBERON:0001496	70.55	gold quality
muscle layer of sigmoid colon	UBERON:0035805	70.51	gold quality
vermiform appendix	UBERON:0001154	70.42	gold quality
metanephros cortex	UBERON:0010533	70.42	gold quality
heart left ventricle	UBERON:0002084	70.40	gold quality
cardiac ventricle	UBERON:0002082	70.15	gold quality
fundus of stomach	UBERON:0001160	70.13	gold quality
female reproductive system	UBERON:0000474	70.12	gold quality
uterine cervix	UBERON:0000002	69.98	gold quality
large intestine	UBERON:0000059	69.95	gold quality
cardiac atrium	UBERON:0002081	69.95	gold quality
urinary bladder	UBERON:0001255	69.94	gold quality
intestine	UBERON:0000160	69.92	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	69.92	gold quality
colon	UBERON:0001155	69.88	gold quality
anatomical system	UBERON:0000467	69.85	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	69.80	gold quality
transverse colon	UBERON:0001157	69.79	gold quality
endometrium	UBERON:0001295	69.77	gold quality
material anatomical entity	UBERON:0000465	69.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.89

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Testis	tissue	35.8	medium
Putamen	tissue	17.0
Corpus callosum	tissue	17.0
Spinal cord	tissue	16.5
Pons	tissue	15.4
Substantia nigra	tissue	15.1
Ventral forebrain	tissue	14.1
Medulla oblongata	tissue	14.0
Thalamus	tissue	13.8
Septum	tissue	13.8
Periaqueductal gray	tissue	13.7
Midbrain	tissue	13.5
Hypothalamus	tissue	13.4
Basal ganglia	tissue	13.2	medium
Cerebellum	tissue	13.1	medium
Cerebral cortex	tissue	13.0	medium
Motor cortex	tissue	13.0
Occipital cortex	tissue	12.8
Hippocampal formation	tissue	12.6
Entorhinal cortex	tissue	12.6
Superior colliculi	tissue	12.5
Insular cortex	tissue	12.5
Locus coeruleus	tissue	12.4
Temporal cortex	tissue	12.3
Amygdala	tissue	12.2
Prefrontal cortex	tissue	12.1
Somatosensory cortex	tissue	12.1
Retrosplenial and cingulate cortex	tissue	12.0
Retrosplenial cortex	tissue	11.8
Olfactory bulb	tissue	11.7
Choroid plexus	tissue	10.4
Nucleus accumbens	tissue	10.0
Hippocampus	tissue	8.8	low
Pancreas	tissue	8.7	medium
Bone marrow	tissue	8.5	medium
Postcentral gyrus	tissue	8.1
Salivary gland	tissue	6.1	medium
Ovary	tissue	5.7	medium
Placenta	tissue	5.2	high
Retina	tissue	5.0
Thyroid gland	tissue	4.8	medium
Stomach 1	tissue	4.6	medium
Duodenum	tissue	4.6	medium
Thymus	tissue	4.6
Kidney	tissue	4.4	medium
Caudate putamen	tissue	4.4
Prostate	tissue	4.3	medium
Tongue	tissue	4.2
Parathyroid gland	tissue	4.1	medium
Epididymis	tissue	4.1	medium
Endometrium 1	tissue	4.0	medium
Breast	tissue	3.9	medium
Cervix	tissue	3.6	medium
Frontal cortex	tissue	3.5
Small intestine	tissue	3.5	medium
Gallbladder	tissue	3.5	medium
Heart muscle	tissue	3.4	medium
Colon	tissue	3.2	medium
Lung	tissue	3.2	medium
Adipose tissue	tissue	3.1	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Corpus callosum, genu (white matter) (17.2), White matter (17.0), Ventral spinal cord (16.5), Parieto-temporal junction (white matter) (15.9), Cerebellar white matter (15.6).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting SWT1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 64 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-609	99.82	64.26	505
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-494-3P	99.70	71.45	2795

Functional genomics

gnomAD constraint: pLI 0.998, LOEUF 0.448, missense Z 1.03 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000367500 splits into 6 regions with different missense tolerance; 2 are missense-constrained (≈4% 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
1:185,160,842–185,180,397	382 / 362.4	1.05	no
1:185,180,398–185,184,763	94 / 114.5	0.82	no
1:185,184,764–185,184,822	5 / 25.3	0.20	yes (p 5.4e-05)
1:185,184,823–185,190,560	34 / 50.2	0.68	no
1:185,190,561–185,190,602	1 / 16.5	0.06	yes (p 1.4e-04)
1:185,190,603–185,290,800	382 / 460.0	0.83	no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	swt1	ENSDARG00000094010
mus_musculus	Swt1	ENSMUSG00000052748
rattus_norvegicus	Swt1	ENSRNOG00000032258
drosophila_melanogaster	Swt1	FBGN0030892
caenorhabditis_elegans		WBGENE00022883

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1914125) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased lean body mass	1
impaired glucose tolerance	1
increased total body fat amount	1
decreased bone mineral content	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
Schizosaccharomyces pombe 972h-	Q9P7J1	36.5%	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
RNF2	protein-coding	6045
TRMT1L	protein-coding	81627
IVNS1ABP	protein-coding	10625
CBSLR	ncRNA	124904470
LINC01633	ncRNA	101929069
NIBAN1	protein-coding	116496

Protein

Protein identifiers

Transcriptional protein SWT1 — Q5T5J6 (reviewed: Q5T5J6)

All UniProt accessions (2): Q5T5J6, Q5TC96

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Expressed weakly in testis.

Similarity. Belongs to the SWT1 family.

RefSeq proteins (2): NP_001098988, NP_060143* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002716	PIN_dom	Domain
IPR029060	PIN-like_dom_sf	Homologous_superfamily
IPR052626	SWT1_Regulator	Family

Pfam: PF13638

UniProt features (12 total): sequence variant 4, compositionally biased region 3, sequence conflict 2, chain 1, domain 1, region of interest 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T5J6-F1	60.89	0.25

Human Protein Atlas

Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol

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: 70 (showing top): TGCGCANK_UNKNOWN, RACCACAR_AML_Q6, CHANDRAN_METASTASIS_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, AML1_01, RGAGGAARY_PU1_Q6, YAMAZAKI_TCEB3_TARGETS_DN, OSF2_Q6, chr1q25, PURBEY_TARGETS_OF_CTBP1_AND_SATB1_DN, CIITA_TARGET_GENES, HES4_TARGET_GENES, HHEX_TARGET_GENES, SUPT16H_TARGET_GENES, ZIM3_TARGET_GENES

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

GO top-level categories

1 GO namespaces:

Category	Terms
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

showing 15 of 536 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SWT1	IVNS1ABP	Q9Y6Y0	596
SWT1	TRMT1L	Q7Z2T5	498
SWT1	FMR1NB	Q8N0W7	482
SWT1	SMG5	Q9UPR3	474
SWT1	PHTF1	Q9UMS5	474
SWT1	RRP15	Q9Y3B9	470
SWT1	TRIML2	Q8N7C3	464
SWT1	PSMC3IP	Q9P2W1	454
SWT1	COQ3	Q9NZJ6	447
SWT1	AGTRAP	Q6RW13	442
SWT1	SLC2A13	Q96QE2	433
SWT1	COG6	Q9Y2V7	425
SWT1	MAGEB17	A8MXT2	389
SWT1	SPATA22	Q8NHS9	384
SWT1	ZRANB2	O95218	380

IntAct

BioGRID (9 interactions; top human partners by supporting records): AURKA (Reconstituted Complex), BTF3 (Cross-Linking-MS (XL-MS)), CSK (Synthetic Lethality), DDX39A (Affinity Capture-RNA), EGFR (Affinity Capture-MS), GATAD2B (Cross-Linking-MS (XL-MS)), HSP90AB1 (Cross-Linking-MS (XL-MS)), RNF10 (Protein-RNA), TNKS (Proximity Label-MS)

Disease & clinical

Genetic variants

Variant evidence for SWT1: 134 ClinVar records (0 pathogenic / likely pathogenic); 3 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	16
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 2,007):

Position(s)	Effect	Δscore	Sites
1:185166561	acceptor_gain	1.0000
1:185166565	acceptor_gain	1.0000
1:185166570–185166571	acceptor_loss	1.0000	3
1:185166653–185166654	donor_loss	1.0000	5
1:185168338–185168339	acceptor_loss	1.0000	5
1:185168399–185168400	donor_loss	1.0000	5
1:185184741–185184742	acceptor_loss	1.0000	5
1:185184773	acceptor_gain	1.0000
1:185231709–185231710	donor_loss	1.0000	5
1:185290672–185290673	acceptor_loss	1.0000	6

AlphaMissense

955 missense substitutions predicted likely pathogenic (of 5,984 scored), across 267 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
D393	8	0.988	0.997
D485	8	0.984	0.994
D510	8	0.971	0.993
D486	8	0.957	0.985
H631	8	0.954	0.984
F636	8	0.947	0.993
D431	8	0.917	0.951
F681	8	0.858	0.970
N512	8	0.843	0.974
D824	8	0.753	0.850
E429	7	0.980	0.989
W619	7	0.979	0.997
W424	7	0.974	0.997
M601	7	0.963	0.989
F605	7	0.963	0.994
F452	7	0.961	0.989
E600	7	0.958	0.981
W609	7	0.958	0.994
W632	7	0.949	0.984
K516	7	0.944	0.997

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

4 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	8e-08
Ovary Serous Cystadenocarcinoma (validation)	unfavorable	0.000353
Kidney Renal Clear Cell Carcinoma (validation)	favorable	0.000518
Breast Invasive Carcinoma (TCGA)	unfavorable	0.000622

Disease associations

OMIM: gene MIM:619513 | disease phenotypes:

GWAS associations

3 associations:

Study	Trait	p-value
GCST011122_6	Walking pace	1e-8
GCST002935_15	Lead levels	5e-6
GCST009543_3	Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect)	9e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0003959	cleft lip
EFO:0005939	parental genotype effect measurement
EFO:0009116	vitamin supplement exposure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Cyclosporine	increases expression	3
Cadmium Chloride	increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	decreases methylation	1
trichostatin A	affects expression	1
sulforaphane	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	increases expression, increases abundance, affects cotreatment	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
3-deazaneplanocin	decreases expression	1
phenethyl isothiocyanate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
tacedinaline	increases expression	1
(+)-JQ1 compound	increases expression	1
Decitabine	affects expression	1
Acrolein	increases abundance, affects cotreatment, increases expression	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Antimycin A	decreases expression	1
Arsenic	affects methylation	1
Cisplatin	affects expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Ozone	affects cotreatment, increases expression, increases abundance	1
Dihydrotestosterone	increases expression	1
Urethane	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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

2 trials:

NCT	Phase	Status	Title
NCT04340856	Not specified	COMPLETED	Retrospective, Uncontrolled Cohort Study on the Therapy of Chronic Megalon
NCT07470892	Not specified	NOT_YET_RECRUITING	Preoperative Fish Oil PN and Prognosis After Constipation Surgery