CFAP161

Summary

CFAP161 (cilia and flagella associated protein 161, HGNC:26782) is a protein-coding gene on chromosome 15q25.1, encoding Cilia- and flagella-associated protein 161 (Q6P656). 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 cilium assembly and flagellated sperm motility. Predicted to act upstream of or within gene expression; mRNA stabilization; and motile cilium assembly. Located in axonemal microtubule.

Source: NCBI Gene 161502 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 54 total
• GTEx eGene: eQTL in 12 tissues, sQTL in 3 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.03 (unconstrained)
• MANE Select transcript: NM_173528
• Notable: 54 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26782
Approved symbol	CFAP161
Name	cilia and flagella associated protein 161
Location	15q25.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38615
Ensembl gene	ENSG00000156206
Ensembl biotype	protein_coding
Entrez	161502

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

MANE Select: ENST00000286732

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

ENST00000286732, ENST00000560091, ENST00000561216

RefSeq mRNA: 2 — MANE Select: NM_173528 NM_001353365, NM_173528

CCDS: CCDS42068

Canonical transcript exons

ENST00000286732 — 7 exons

Exon	Start	End
ENSE00001253114	81143662	81143820
ENSE00001253121	81138051	81138135
ENSE00002434177	81148338	81149179
ENSE00002530819	81147858	81147931
ENSE00002561855	81134270	81134398
ENSE00003663949	81135270	81135359
ENSE00003788617	81136516	81136748

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 87.95.

FANTOM5 (CAGE): breadth broad, TPM avg 1.2839 / max 144.8573, expressed in 252 samples.

Highest expression (Bgee): uterine tube, monocyte, leukocyte, bronchial epithelial cell, male germ line stem cell (sensu Vertebrata) in testis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CFAP161 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 12 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

15 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	1.1e-14	+0.88	15:81134296:G:A
Whole Blood	eqtl	5.7e-11	-0.31	15:81135816:G:A
Heart Atrial Appendage	eqtl	1.0e-09	-0.45	15:81105706:A:T
Lung	eqtl	1.8e-08	-0.22	15:81116176:C:T
Heart Left Ventricle	eqtl	2.8e-07	-0.35	15:81114074:T:C
Thyroid	eqtl	3.0e-07	-0.33	15:81129669:G:A
Testis	sqtl	2.0e-06	-0.74	15:81147297:C:A
Pituitary	eqtl	4.5e-04	+0.82	15:81134296:G:A
Pituitary	sqtl	1.1e-03	-0.72	15:81147297:C:A
Brain Cortex	eqtl	1.0e-02	+1.54	15:81134296:G:A
Lung	sqtl	2.1e-02	+0.27	15:81116176:C:T
Esophagus Muscularis	eqtl	3.3e-02	+0.38	15:80594143:G:A
Adipose Visceral Omentum	eqtl	3.6e-02	-0.20	15:81116176:C:T
Skin Not Sun Exposed Suprapubic	eqtl	4.5e-02	-0.22	15:81113282:G:A
Brain Caudate basal ganglia	eqtl	4.7e-02	-0.20	15:80392626:C:T

FANTOM5 promoters

7 alternative TSS:

Promoter ID	TPM avg	Samples expressed
148061	0.6829	108
148062	0.1771	51
148060	0.1313	50
148057	0.1175	38
148059	0.0988	48
148063	0.0553	29
148056	0.0210	6

Top tissues by expression

showing 100 of 245 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	87.95	gold quality
monocyte	CL:0000576	87.55	gold quality
leukocyte	CL:0000738	86.04	gold quality
bronchial epithelial cell	CL:0002328	85.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.01	gold quality
bronchus	UBERON:0002185	83.86	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	82.96	gold quality
mucosa of paranasal sinus	UBERON:0005030	78.63	gold quality
fallopian tube	UBERON:0003889	69.43	gold quality
epithelium of nasopharynx	UBERON:0001951	69.25	gold quality
nasopharynx	UBERON:0001728	69.24	gold quality
left testis	UBERON:0004533	68.34	gold quality
right testis	UBERON:0004534	67.27	gold quality
oviduct epithelium	UBERON:0004804	67.24	gold quality
testis	UBERON:0000473	67.19	gold quality
right lung	UBERON:0002167	66.32	gold quality
sperm	CL:0000019	66.18	silver quality
granulocyte	CL:0000094	65.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.22	gold quality
upper lobe of left lung	UBERON:0008952	64.41	gold quality
upper lobe of lung	UBERON:0008948	64.03	gold quality
nasal cavity mucosa	UBERON:0001826	63.45	gold quality
adenohypophysis	UBERON:0002196	62.54	gold quality
lung	UBERON:0002048	61.49	gold quality
pituitary gland	UBERON:0000007	61.02	gold quality
calcaneal tendon	UBERON:0003701	60.04	gold quality
secondary oocyte	CL:0000655	59.00	gold quality
lower lobe of lung	UBERON:0008949	58.48	silver quality
hypothalamus	UBERON:0001898	58.07	gold quality
nasal cavity epithelium	UBERON:0005384	58.03	gold quality
blood	UBERON:0000178	57.66	gold quality
caput epididymis	UBERON:0004358	57.53	gold quality
apex of heart	UBERON:0002098	56.32	gold quality
corpus callosum	UBERON:0002336	55.37	gold quality
heart left ventricle	UBERON:0002084	55.03	gold quality
cardiac ventricle	UBERON:0002082	54.53	gold quality
mucosa of stomach	UBERON:0001199	54.38	gold quality
nucleus accumbens	UBERON:0001882	54.37	gold quality
caudate nucleus	UBERON:0001873	54.05	gold quality
left uterine tube	UBERON:0001303	53.48	gold quality
smooth muscle tissue	UBERON:0001135	53.21	gold quality
endocervix	UBERON:0000458	53.16	gold quality
heart	UBERON:0000948	52.76	gold quality
endometrium	UBERON:0001295	52.57	gold quality
tendon	UBERON:0000043	52.51	gold quality
prefrontal cortex	UBERON:0000451	51.28	gold quality
peritoneum	UBERON:0002358	51.13	gold quality
omental fat pad	UBERON:0010414	51.12	gold quality
right atrium auricular region	UBERON:0006631	51.07	gold quality
cardiac atrium	UBERON:0002081	50.79	gold quality
Ammon’s horn	UBERON:0001954	50.60	gold quality
adipose tissue of abdominal region	UBERON:0007808	50.58	gold quality
ventricular zone	UBERON:0003053	50.51	gold quality
anterior cingulate cortex	UBERON:0009835	50.51	gold quality
forebrain	UBERON:0001890	50.13	gold quality
right lobe of thyroid gland	UBERON:0001119	49.52	gold quality
Brodmann (1909) area 9	UBERON:0013540	49.51	gold quality
brain	UBERON:0000955	49.40	gold quality
amygdala	UBERON:0001876	49.12	gold quality
thyroid gland	UBERON:0002046	48.68	gold quality
adult organism	UBERON:0007023	48.54	silver quality
mucosa of transverse colon	UBERON:0004991	48.50	gold quality
right frontal lobe	UBERON:0002810	48.47	gold quality
neocortex	UBERON:0001950	48.42	gold quality
frontal cortex	UBERON:0001870	48.26	gold quality
uterus	UBERON:0000995	48.12	gold quality
left lobe of thyroid gland	UBERON:0001120	48.10	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	47.95	gold quality
cerebral cortex	UBERON:0000956	47.93	gold quality
cerebellar hemisphere	UBERON:0002245	47.88	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	47.79	gold quality
anatomical system	UBERON:0000467	47.62	gold quality
cerebellar cortex	UBERON:0002129	47.62	silver quality
material anatomical entity	UBERON:0000465	47.56	gold quality
multicellular organism	UBERON:0000468	47.55	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	47.42	gold quality
subcutaneous adipose tissue	UBERON:0002190	47.36	gold quality
left coronary artery	UBERON:0001626	47.22	gold quality
right lobe of liver	UBERON:0001114	47.14	gold quality
cerebellum	UBERON:0002037	47.10	silver quality
adipose tissue	UBERON:0001013	47.07	gold quality
spinal cord	UBERON:0002240	47.07	gold quality
substantia nigra	UBERON:0002038	46.80	gold quality
liver	UBERON:0002107	46.60	silver quality
body of pancreas	UBERON:0001150	46.57	gold quality
coronary artery	UBERON:0001621	46.56	gold quality
lower esophagus muscularis layer	UBERON:0035833	46.46	gold quality
spleen	UBERON:0002106	46.41	gold quality
lower esophagus	UBERON:0013473	46.33	gold quality
pancreas	UBERON:0001264	46.26	gold quality
placenta	UBERON:0001987	46.11	gold quality
right hemisphere of cerebellum	UBERON:0014890	46.07	silver quality
midbrain	UBERON:0001891	46.03	gold quality
uterine cervix	UBERON:0000002	46.00	gold quality
hindlimb stylopod muscle	UBERON:0004252	45.86	silver quality
islet of Langerhans	UBERON:0000006	45.75	gold quality
right adrenal gland cortex	UBERON:0035827	45.48	gold quality
tibial artery	UBERON:0007610	45.45	gold quality
temporal lobe	UBERON:0001871	45.37	gold quality
tonsil	UBERON:0002372	45.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.77

HPA expression

RNA tissue specificity: Group enriched

showing 60 of 73 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	80.5	high
Periaqueductal gray	tissue	15.8
Fallopian tube	tissue	14.9	high
Hippocampal formation	tissue	8.8
Basal ganglia	tissue	8.4	not detected
Nucleus accumbens	tissue	6.4
Postcentral gyrus	tissue	6.2
Testis	tissue	6.0	low
Hypothalamus	tissue	4.4
Locus coeruleus	tissue	4.3
Amygdala	tissue	4.2
Septum	tissue	4.1
Putamen	tissue	3.9
Pons	tissue	3.7
Corpus callosum	tissue	3.7
Caudate putamen	tissue	3.7
Ventral forebrain	tissue	3.3
Thalamus	tissue	3.2
Prefrontal cortex	tissue	2.9
Cerebral cortex	tissue	2.9	low
Insular cortex	tissue	2.9
Temporal cortex	tissue	2.8
Retrosplenial and cingulate cortex	tissue	2.7
Lung	tissue	2.5	not detected
Motor cortex	tissue	2.4
Hippocampus	tissue	2.3	low
Entorhinal cortex	tissue	2.3
Retrosplenial cortex	tissue	2.2
Medulla oblongata	tissue	2.1
Cerebellum	tissue	1.8	not detected
Midbrain	tissue	1.7
Somatosensory cortex	tissue	1.7
Pituitary gland	tissue	1.6
Superior colliculi	tissue	1.6
Olfactory bulb	tissue	1.4
Occipital cortex	tissue	1.3
Retina	tissue	1.2	medium
Placenta	tissue	1.2	low
Spinal cord	tissue	1.0
Substantia nigra	tissue	0.8
Tongue	tissue	0.7
Heart muscle	tissue	0.6	low
Epididymis	tissue	0.6	not detected
Endometrium 1	tissue	0.5	not detected
Thyroid gland	tissue	0.5	not detected
Spleen	tissue	0.5	not detected
Bone marrow	tissue	0.5	not detected
Cervix	tissue	0.4	not detected
Skin 1	tissue	0.4	not detected
Adipose tissue	tissue	0.4	not detected
Parathyroid gland	tissue	0.3	not detected
Frontal cortex	tissue	0.3
Breast	tissue	0.2	not detected
Stomach 1	tissue	0.2	not detected
Seminal vesicle	tissue	0.2	not detected
Salivary gland	tissue	0.2	not detected
Skeletal muscle	tissue	0.2	not detected
Smooth muscle	tissue	0.2	not detected
Urinary bladder	tissue	0.2	not detected
Liver	tissue	0.2	not detected

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Vermis (13.0), Cerebellar cortex (11.7), Periaquaductal grey, lateral (11.6), Cervical spinal cord, central gray (10.8), Flocculonodular lobe (10.3).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CFAP161 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 41 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4650-3P	99.01	68.39	1062
HSA-MIR-154-5P	98.92	66.65	733
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-455-5P	98.74	67.31	795
HSA-MIR-12114	98.70	63.45	730

Functional genomics

gnomAD constraint: pLI 0.00035, LOEUF 1.03, missense Z 0.219 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000286732 — one region, missense o/e 0.99.

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap161	ENSDARG00000018281
mus_musculus	Cfap161	ENSMUSG00000011154
rattus_norvegicus	Cfap161	ENSRNOG00000012301
drosophila_melanogaster	CG15498	FBGN0038892
drosophila_melanogaster	CG34457	FBGN0085486

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1922806) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 7 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal mouth morphology	1
abnormal mammary gland morphology	1
abnormal thyroid gland morphology	1
abnormal spleen morphology	1
enlarged spleen	1
enlarged thyroid gland	1
decreased total body fat amount	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
Bos taurus	F6RJC2	81.6%	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
TMC3-AS1	ncRNA	101929655
TMC3	protein-coding	342125
IL16	protein-coding	3603
TLNRD1	protein-coding	59274
STARD5	protein-coding	80765
MIR4514	ncRNA	100616181
MESD	protein-coding	23184
CEMIP	protein-coding	57214

Protein

Protein identifiers

Cilia- and flagella-associated protein 161 — Q6P656 (reviewed: Q6P656)

All UniProt accessions (3): H0YM05, H0YNS7, Q6P656

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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P656-1	1	yes
Q6P656-2	2

RefSeq proteins (2): NP_001340294, NP_775799* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR055325	CF161	Family

Pfam: PF24569

UniProt features (6 total): splice variant 3, chain 1, region of interest 1, sequence variant 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-Q6P656-F1	87.29	0.63

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH supported

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: 78 (showing top): FREAC2_01, SP3_Q3, AAAYRNCTG_UNKNOWN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GATA6_01, GOBP_CILIUM_MOVEMENT, TCF11_01, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, HP1SITEFACTOR_Q6, GOBP_ORGANELLE_ASSEMBLY, NKX22_01, P300_01, GOBP_CELL_PROJECTION_ORGANIZATION, TGGAAA_NFAT_Q4_01

GO Biological Process (2): flagellated sperm motility (GO:0030317), cilium assembly (GO:0060271)

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

GO Cellular Component (5): axonemal microtubule (GO:0005879), motile cilium (GO:0031514), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), axoneme (GO:0005930)

GO top-level categories

22 GO namespaces:

Category	Terms
cellular anatomical structure	2
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
binding	1
cytoplasmic microtubule	1
axoneme	1
cilium	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
cytoskeleton	1
microtubule	1
ciliary plasm	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
axonemal microtubule	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 1,114 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP161	LRRC46	Q96FV0	620
CFAP161	TEKTIP1	A6NCJ1	590
CFAP161	CFAP53	Q96M91	550
CFAP161	CFAP20	Q9Y6A4	545
CFAP161	PEBP4	Q96S96	530
CFAP161	C20orf202	A1L168	530
CFAP161	EFHC1	Q5JVL4	530
CFAP161	SPAG8	Q99932	530
CFAP161	ODF2	Q5BJF6	527
CFAP161	RSPH14	Q9UHP6	523
CFAP161	LRRC23	Q53EV4	513
CFAP161	SPATA18	Q8TC71	504
CFAP161	CCDC146	Q8IYE0	490
CFAP161	EFHC2	Q5JST6	490
CFAP161	LRRC34	Q8IZ02	488

IntAct

Human interaction partners of CFAP161 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

13 partners by confidence:

Partner	Interaction type	MIscore	Records
DPYSL5	physical association	0.640	4
EFHC1	physical association	0.560	5
BCL6	physical association	0.560	3
CINP	physical association	0.560	3
NBN	association	0.350	1
AFG2A	physical association	0.000	1
AFG2B	physical association	0.000	1
BUB1	physical association	0.000	1
CCDC150	physical association	0.000	1
DCTPP1	physical association	0.000	1
EML5	physical association	0.000	1
MRE11	physical association	0.000	1
RAD50	physical association	0.000	1

Disease & clinical

Genetic variants

Variant evidence for CFAP161: 54 ClinVar records (0 pathogenic / likely pathogenic); 5 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	4
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 36 predictions of 587):

Position(s)	Effect	Δscore	Sites
15:81136554–81136555	acceptor_gain	1.0000	2
15:81134399–81134400	donor_loss	0.9900	4
15:81135268–81135269	acceptor_loss	0.9900	5
15:81135360–81135361	donor_loss	0.9900	6
15:81136514–81136515	acceptor_loss	0.9900	6
15:81136749–81136750	donor_loss	0.9900	5
15:81143821–81143822	donor_loss	0.9900	5
15:81134399	donor_loss	0.9800
15:81135269	acceptor_loss	0.9800
15:81136513	acceptor_loss	0.9800

AlphaMissense

397 missense substitutions predicted likely pathogenic (of 1,989 scored), across 136 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
H221	8	0.873	0.954
N262	8	0.849	0.969
W15	7	0.962	0.983
W193	7	0.961	0.983
W264	7	0.953	0.987
F29	7	0.893	0.978
F127	7	0.882	0.962
E17	7	0.816	0.908
E243	7	0.813	0.895
F240	7	0.805	0.936
E245	7	0.802	0.884
F147	6	0.891	0.967
N125	6	0.795	0.936
D253	6	0.793	0.874
E258	6	0.788	0.864
G36	6	0.747	0.882
S164	5	0.963	0.986
R124	5	0.892	0.949
S114	5	0.862	0.971
T224	5	0.847	0.964

HPA cancer prognostics

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

Disease associations

OMIM: gene `` | disease phenotypes:

GWAS associations

5 associations:

Study	Trait	p-value
GCST010866_34	Coronary artery disease	4e-10
GCST005951_20	Body mass index	2e-8
GCST010242_141	HDL cholesterol levels	3e-8
GCST011365_143	Myocardial infarction	7e-7
GCST010396_289	Gut microbiota (bacterial taxa, hurdle binary method)	6e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	2
Smoke	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
monobutyl phthalate	decreases methylation, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
monomethylpropion	affects expression	1
mono-benzyl phthalate	decreases methylation, increases abundance	1
abrine	increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Arbutin	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Coal	increases abundance, increases expression	1
Cuprizone	increases expression, affects cotreatment	1
Haloperidol	increases expression, affects cotreatment	1
Phthalic Acids	decreases methylation, increases abundance	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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