CFAP210

Summary

CFAP210 (cilia and flagella associated protein 210, HGNC:25064) is a protein-coding gene on chromosome 2q31.1, encoding Cilia- and flagella- associated protein 210 (Q0VFZ6). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule.

Source: NCBI Gene 129881 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Clinical variants (ClinVar): 80 total — 1 pathogenic
• GTEx eGene: eQTL in 40 tissues, sQTL in 2 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.34 (unconstrained)
• MANE Select transcript: NM_001085447
• Notable: 80 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25064
Approved symbol	CFAP210
Name	cilia and flagella associated protein 210
Location	2q31.1
Locus type	gene with protein product
Status	Approved
Aliases	LOC129881
Ensembl gene	ENSG00000154479
Ensembl biotype	protein_coding
Entrez	129881

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 nonsense_mediated_decay

MANE Select: ENST00000447353

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

ENST00000447353, ENST00000419478, ENST00000421028, ENST00001093673, ENST00001127360, ENST00001127716, ENST00001137929

RefSeq mRNA: 1 — MANE Select: NM_001085447 NM_001085447

CCDS: CCDS46445

Canonical transcript exons

ENST00000447353 — 9 exons

Exon	Start	End
ENSE00001016144	169649182	169649346
ENSE00001146957	169650329	169650521
ENSE00001225835	169645425	169646182
ENSE00001404590	169654075	169654214
ENSE00001527650	169662280	169662436
ENSE00001527651	169674576	169674769
ENSE00001527655	169681007	169681233
ENSE00001631329	169694261	169694405
ENSE00003498153	169674867	169675040

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 96.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9814 / max 105.4672, expressed in 990 samples.

Highest expression (Bgee): sperm, bronchial epithelial cell, testis, bronchus, uterine tube.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CFAP210 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 40 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 42 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Thyroid	eqtl	3.8e-35	-0.81	2:169586241:T:C
Testis	sqtl	3.2e-33	+1.32	2:169662859:C:T
Nerve Tibial	eqtl	1.5e-20	-0.73	2:169720801:C:T
Testis	eqtl	3.4e-19	-0.37	2:169662859:C:T
Pituitary	eqtl	1.5e-18	-0.95	2:169713812:TTTTG:T
Brain Cortex	eqtl	8.9e-13	-0.83	2:169586241:T:C
Spleen	eqtl	4.4e-12	-0.60	2:169660518:T:G
Brain Hippocampus	eqtl	1.1e-10	-0.57	2:169652721:C:T
Brain Nucleus accumbens basal ganglia	eqtl	1.4e-10	-0.64	2:169586241:T:C
Brain Caudate basal ganglia	eqtl	4.5e-10	-0.46	2:169582581:G:C
Brain Anterior cingulate cortex BA24	eqtl	4.1e-09	-0.77	2:169662859:C:T
Artery Aorta	eqtl	5.3e-09	-0.49	2:169723973:A:G
Lung	eqtl	6.0e-09	-0.27	2:169713812:TTTTG:T
Esophagus Muscularis	eqtl	6.5e-09	-0.60	2:169713812:TTTTG:T
Artery Tibial	eqtl	9.0e-09	-0.30	2:169646989:G:A
Brain Frontal Cortex BA9	eqtl	3.6e-08	-0.70	2:169645833:A:T
Colon Sigmoid	eqtl	2.1e-07	-0.65	2:169671499:G:A
Brain Putamen basal ganglia	eqtl	3.5e-07	-0.65	2:169671647:T:C
Brain Hypothalamus	eqtl	1.3e-06	-0.46	2:169586241:T:C
Ovary	eqtl	2.2e-06	-0.69	2:169671647:T:C

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
31739	2.1781	808
31738	1.8033	518

Top tissues by expression

showing 100 of 246 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	96.87	gold quality
bronchial epithelial cell	CL:0002328	95.64	gold quality
left testis	UBERON:0004533	94.56	gold quality
bronchus	UBERON:0002185	94.18	gold quality
right testis	UBERON:0004534	94.09	gold quality
testis	UBERON:0000473	92.33	gold quality
right uterine tube	UBERON:0001302	90.61	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.16	gold quality
oviduct epithelium	UBERON:0004804	85.50	gold quality
adult organism	UBERON:0007023	78.52	gold quality
fallopian tube	UBERON:0003889	78.07	gold quality
secondary oocyte	CL:0000655	77.70	gold quality
epithelium of nasopharynx	UBERON:0001951	76.44	gold quality
corpus callosum	UBERON:0002336	73.13	gold quality
pancreatic ductal cell	CL:0002079	72.66	silver quality
ventricular zone	UBERON:0003053	71.50	gold quality
adenohypophysis	UBERON:0002196	69.96	gold quality
caput epididymis	UBERON:0004358	69.44	gold quality
nasal cavity mucosa	UBERON:0001826	68.41	gold quality
caudate nucleus	UBERON:0001873	67.80	gold quality
pituitary gland	UBERON:0000007	67.62	gold quality
hypothalamus	UBERON:0001898	67.57	gold quality
amygdala	UBERON:0001876	66.09	gold quality
sural nerve	UBERON:0015488	65.98	gold quality
right lung	UBERON:0002167	65.60	gold quality
nucleus accumbens	UBERON:0001882	65.12	gold quality
primary visual cortex	UBERON:0002436	62.88	gold quality
epithelial cell of pancreas	CL:0000083	62.74	gold quality
thyroid gland	UBERON:0002046	62.68	gold quality
putamen	UBERON:0001874	62.55	gold quality
left lobe of thyroid gland	UBERON:0001120	62.37	gold quality
anterior cingulate cortex	UBERON:0009835	61.91	gold quality
Ammon’s horn	UBERON:0001954	61.85	gold quality
islet of Langerhans	UBERON:0000006	61.59	gold quality
right lobe of thyroid gland	UBERON:0001119	61.55	gold quality
endocervix	UBERON:0000458	61.41	gold quality
left uterine tube	UBERON:0001303	61.29	gold quality
forebrain	UBERON:0001890	61.16	gold quality
cerebellar vermis	UBERON:0004720	60.97	gold quality
Brodmann (1909) area 9	UBERON:0013540	60.88	gold quality
occipital lobe	UBERON:0002021	60.83	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	60.51	gold quality
spinal cord	UBERON:0002240	60.21	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	59.55	gold quality
brain	UBERON:0000955	59.40	gold quality
lung	UBERON:0002048	59.35	gold quality
upper lobe of left lung	UBERON:0008952	59.12	gold quality
prefrontal cortex	UBERON:0000451	58.80	gold quality
temporal lobe	UBERON:0001871	58.58	gold quality
upper lobe of lung	UBERON:0008948	58.46	gold quality
pancreas	UBERON:0001264	58.39	gold quality
endometrium	UBERON:0001295	58.31	gold quality
cortex of kidney	UBERON:0001225	58.14	gold quality
cerebral cortex	UBERON:0000956	58.13	gold quality
right frontal lobe	UBERON:0002810	58.05	gold quality
neocortex	UBERON:0001950	57.91	gold quality
body of pancreas	UBERON:0001150	57.64	gold quality
metanephros cortex	UBERON:0010533	57.19	gold quality
calcaneal tendon	UBERON:0003701	56.79	gold quality
ganglionic eminence	UBERON:0004023	56.77	gold quality
substantia nigra	UBERON:0002038	56.64	gold quality
endothelial cell	CL:0000115	56.63	gold quality
gall bladder	UBERON:0002110	56.59	gold quality
frontal cortex	UBERON:0001870	56.54	gold quality
superficial temporal artery	UBERON:0001614	56.49	gold quality
midbrain	UBERON:0001891	56.45	gold quality
Brodmann (1909) area 23	UBERON:0013554	56.41	gold quality
lateral globus pallidus	UBERON:0002476	56.33	gold quality
seminal vesicle	UBERON:0000998	56.21	gold quality
lower esophagus mucosa	UBERON:0035834	55.87	gold quality
saphenous vein	UBERON:0007318	55.21	gold quality
metanephros	UBERON:0000081	54.85	gold quality
vermiform appendix	UBERON:0001154	54.49	gold quality
uterine cervix	UBERON:0000002	54.47	gold quality
substantia nigra pars reticulata	UBERON:0001966	54.46	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
uterus	UBERON:0000995	54.29	gold quality
monocyte	CL:0000576	54.28	gold quality
right ovary	UBERON:0002118	54.24	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
synovial joint	UBERON:0002217	54.17	gold quality
cortical plate	UBERON:0005343	53.99	gold quality
ovary	UBERON:0000992	53.95	gold quality
caecum	UBERON:0001153	53.95	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
adult mammalian kidney	UBERON:0000082	53.89	gold quality
inferior vagus X ganglion	UBERON:0005363	53.89	gold quality
tibialis anterior	UBERON:0001385	53.82	silver quality
tibia	UBERON:0000979	53.81	gold quality
thymus	UBERON:0002370	53.76	gold quality
left ovary	UBERON:0002119	53.70	gold quality
pericardium	UBERON:0002407	53.70	gold quality
globus pallidus	UBERON:0001875	53.59	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
urethra	UBERON:0000057	53.43	gold quality
kidney	UBERON:0002113	53.34	gold quality
medial globus pallidus	UBERON:0002477	53.20	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	915.49
E-GEOD-130148	yes	12.37
E-ANND-3	yes	9.17

HPA expression

RNA tissue specificity: Group enriched

showing 60 of 75 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Testis	tissue	74.9	high
Choroid plexus	tissue	42.9
Fallopian tube	tissue	14.0	medium
Hippocampus	tissue	12.2	not detected
Nucleus accumbens	tissue	11.6
Periaqueductal gray	tissue	9.8
Basal ganglia	tissue	8.0	not detected
Olfactory bulb	tissue	7.7
Postcentral gyrus	tissue	7.3
Septum	tissue	7.3
Hypothalamus	tissue	6.9
Amygdala	tissue	6.5
Cerebral cortex	tissue	6.4	not detected
Ventral forebrain	tissue	6.4
Retrosplenial and cingulate cortex	tissue	6.4
Retrosplenial cortex	tissue	6.4
Hippocampal formation	tissue	6.3
Occipital cortex	tissue	6.3
Retina	tissue	6.2
Entorhinal cortex	tissue	6.2
Prefrontal cortex	tissue	6.1
Putamen	tissue	6.1
Cerebellum	tissue	6.1	not detected
Corpus callosum	tissue	6.1
Insular cortex	tissue	6.1
Temporal cortex	tissue	5.8
Somatosensory cortex	tissue	5.6
Locus coeruleus	tissue	5.5
Motor cortex	tissue	5.4
Midbrain	tissue	4.8
Medulla oblongata	tissue	4.7
Substantia nigra	tissue	4.7
Spinal cord	tissue	4.6
Pons	tissue	4.5
Thalamus	tissue	4.0
Superior colliculi	tissue	3.8
Bone marrow	tissue	3.4	not detected
Thyroid gland	tissue	3.2	not detected
Pituitary gland	tissue	2.4
Lung	tissue	2.3	not detected
Parathyroid gland	tissue	1.5	not detected
Pancreas	tissue	1.3	not detected
Breast	tissue	1.2	not detected
Endometrium 1	tissue	1.1	not detected
Epididymis	tissue	1.1	not detected
Frontal cortex	tissue	1.1
Cervix	tissue	0.9	not detected
Kidney	tissue	0.9	not detected
Caudate putamen	tissue	0.9
Seminal vesicle	tissue	0.7	not detected
Appendix	tissue	0.7	not detected
Ovary	tissue	0.6	not detected
Smooth muscle	tissue	0.6	not detected
Duodenum	tissue	0.6	not detected
Gallbladder	tissue	0.5	not detected
Stomach 1	tissue	0.4	not detected
Rectum	tissue	0.4	not detected
Liver	tissue	0.4	not detected
Small intestine	tissue	0.4	not detected
Prostate	tissue	0.4	not detected

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Periaquaductal grey, dorsal (31.5), Periaquaductal grey, lateral (29.1), Nucleus tractus solitarii (27.1), Cervical spinal cord, central gray (20.6), Superior vestibular nucleus (16.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CFAP210 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 32 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-4506	99.34	67.47	526
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-223-5P	99.24	68.82	1206
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-140-3P	99.04	67.69	1324
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-3928-5P	98.50	67.48	980
HSA-MIR-6806-3P	98.50	67.31	980
HSA-MIR-581	98.39	67.42	835
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-3130-5P	98.14	66.00	711
HSA-MIR-193B-5P	97.91	65.88	837
HSA-MIR-127-5P	97.78	67.64	869
HSA-MIR-4482-5P	97.53	65.68	598
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-3118	97.11	66.58	984
HSA-MIR-134-5P	97.11	66.52	976

Functional genomics

gnomAD constraint: pLI 1.88e-26, LOEUF 1.34, missense Z 0.361 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000447353 — one region, missense o/e 0.95.

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cfap210	ENSMUSG00000070883
rattus_norvegicus	Cfap210	ENSRNOG00000052954

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
Bos taurus	E1BJL9	84.8%	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
PHOSPHO2-KLHL23	protein-coding	100526832
PHOSPHO2	protein-coding	493911
FASTKD1	protein-coding	79675
PPIG	protein-coding	9360
KLHL23	protein-coding	151230
KLHL41	protein-coding	10324
BBS5	protein-coding	129880

Protein

Protein identifiers

Cilia- and flagella- associated protein 210 — Q0VFZ6 (reviewed: Q0VFZ6)

Alternative names: Coiled-coil domain-containing protein 173

All UniProt accessions (4): Q0VFZ6, B4DX81, C9J9F8, C9JQ25

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme.

Tissue specificity. Expressed in airway epithelial cells.

RefSeq proteins (1): NP_001078916* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039986	CFAP210	Family
IPR043597	TPH_dom	Domain

Pfam: PF13868

UniProt features (7 total): coiled-coil region 4, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

2 structures by resolution:

PDB	Title	Method	Resolution (Å)
7UNG	48-nm repeat of the human respiratory doublet microtubule	ELECTRON MICROSCOPY	3.6
8J07	96nm repeat of human respiratory doublet microtubule and associated axonemal complexes	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0VFZ6-F1	81.20	0.38

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH 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): SHEPARD_BMYB_MORPHOLINO_UP, FOSTER_TOLERANT_MACROPHAGE_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM, DODD_NASOPHARYNGEAL_CARCINOMA_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, GOCC_AXONEMAL_MICROTUBULE, GOCC_9PLUS2_MOTILE_CILIUM, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER

GO Biological Process (1): flagellated sperm motility (GO:0030317)

GO Cellular Component (6): axonemal microtubule (GO:0005879), axoneme (GO:0005930), sperm flagellum (GO:0036126), axonemal B tubule inner sheath (GO:0160112), cilium (GO:0005929), polymeric cytoskeletal fiber (GO:0099513)

GO top-level categories

16 GO namespaces:

Category	Terms
cytoskeleton	2
cellular anatomical structure	2
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
cytoplasmic microtubule	1
axoneme	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
supramolecular fiber	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 7 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
axonemal microtubule	CC	direct assay
axoneme	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 895 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP210	CCDC190	Q86UF4	543
CFAP210	CCDC160	A6NGH7	526
CFAP210	CCDC60	Q8IWA6	489
CFAP210	CFAP77	Q6ZQR2	470
CFAP210	CCDC13	Q8IYE1	457
CFAP210	CCDC17	Q96LX7	443
CFAP210	PHOSPHO2	Q8TCD6	435
CFAP210	ODR4	Q5SWX8	419
CFAP210	ZNF169	Q14929	419
CFAP210	SPACA9	Q96E40	408
CFAP210	CCDC68	Q9H2F9	391
CFAP210	AK9	Q5TCS8	388
CFAP210	KLHL23	Q8NBE8	386
CFAP210	DRC2	Q8IXS2	368
CFAP210	ERICH3	Q5RHP9	357

IntAct

Human interaction partners of CFAP210 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
DUSP14	association	0.530	2

Disease & clinical

Genetic variants

Variant evidence for CFAP210: 80 ClinVar records (1 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	74
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore CFAP210’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 27 predictions of 885):

Position(s)	Effect	Δscore	Sites
2:169649180–169649181	donor_loss	1.0000	5
2:169649348	acceptor_loss	1.0000
2:169649351–169649355	acceptor_gain	1.0000	4
2:169654216	acceptor_gain	1.0000
2:169674859	donor_gain	1.0000
2:169674886	donor_gain	1.0000
2:169674939	donor_gain	1.0000
2:169675041–169675042	acceptor_loss	1.0000	6
2:169694269	donor_gain	1.0000
2:169646183–169646184	acceptor_loss	0.9900	6

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Uterine Corpus Endometrial Carcinoma)

Disease associations

OMIM: gene `` | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol S	decreases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
methylmercuric chloride	decreases expression	1
bisphenol A	decreases methylation	1
trichostatin A	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, affects response to substance, increases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Clozapine	affects cotreatment, increases expression	1
Cuprizone	affects cotreatment, increases expression	1
Folic Acid	increases expression	1
Lipopolysaccharides	increases expression, affects cotreatment, affects response to substance	1
Methyl Methanesulfonate	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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