CEP192

Summary

CEP192 (centrosomal protein 192, HGNC:25515) is a protein-coding gene on chromosome 18p11.21, encoding Centrosomal protein of 192 kDa (Q8TEP8). Required for mitotic centrosome maturation and bipolar spindle assembly. It is a selective cancer dependency (DepMap: 84.9% of cell lines).

Enables phosphatase binding activity. Involved in centrosome-templated microtubule nucleation; mitotic spindle assembly; and protein localization to centrosome. Located in centriole; centrosome; and procentriole. Part of procentriole replication complex.

Source: NCBI Gene 55125 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 415 total
• Cancer dependency (DepMap): dependent in 84.9% of screened cell lines
• MANE Select transcript: NM_032142

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25515
Approved symbol	CEP192
Name	centrosomal protein 192
Location	18p11.21
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1569, FLJ10352, PPP1R62
Ensembl gene	ENSG00000101639
Ensembl biotype	protein_coding
OMIM	616426
Entrez	55125

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 11 protein_coding, 6 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

ENST00000325971, ENST00000506447, ENST00000507064, ENST00000507254, ENST00000508150, ENST00000508539, ENST00000510237, ENST00000511820, ENST00000513183, ENST00000513432, ENST00000540847, ENST00000585938, ENST00000589596, ENST00000589993, ENST00000898442, ENST00000912812, ENST00000912813, ENST00000912814, ENST00000912815, ENST00000912816, ENST00000965466

RefSeq mRNA: 1 — MANE Select: NM_032142 NM_032142

CCDS: CCDS32792

Canonical transcript exons

ENST00000506447 — 45 exons

Exon	Start	End
ENSE00002031458	12991362	12991437
ENSE00002050730	13037237	13037301
ENSE00002075287	13038370	13038579
ENSE00002835126	13059082	13059312
ENSE00002926565	13057585	13057733
ENSE00003470659	13100305	13100512
ENSE00003471909	13071039	13071212
ENSE00003474502	13015328	13015448
ENSE00003482555	13012973	13013025
ENSE00003487828	13092377	13092527
ENSE00003489507	13040830	13040956
ENSE00003495074	13114130	13114251
ENSE00003510499	13042204	13042334
ENSE00003515119	13069738	13069856
ENSE00003519547	13019082	13019206
ENSE00003532091	13049765	13049891
ENSE00003536411	13017188	13017336
ENSE00003544209	13069089	13069181
ENSE00003545868	13104984	13105079
ENSE00003549613	13073009	13073185
ENSE00003558393	13068852	13068991
ENSE00003561126	13029663	13030002
ENSE00003565875	13099476	13099581
ENSE00003567350	13096184	13096307
ENSE00003570470	13113586	13113705
ENSE00003577745	13117585	13117643
ENSE00003578714	13103509	13103588
ENSE00003583804	13087017	13087277
ENSE00003584459	13008456	13008631
ENSE00003584672	13067831	13067956
ENSE00003586476	13089456	13089565
ENSE00003619467	13068359	13068422
ENSE00003631095	13087531	13087646
ENSE00003632490	13052919	13053090
ENSE00003637105	13095503	13095681
ENSE00003641912	13001457	13001582
ENSE00003648209	13072755	13072845
ENSE00003655997	13116377	13116503
ENSE00003667499	13124632	13125036
ENSE00003672857	13018480	13018615
ENSE00003689077	13055780	13056698
ENSE00003691092	13048859	13049681
ENSE00003708242	12999421	12999588
ENSE00003745592	13030465	13030608
ENSE00003753514	13068094	13068237

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 92.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.7276 / max 182.1816, expressed in 1741 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169517	9.3047	1698
169518	1.4266	820
169516	0.6602	377
169515	0.3362	171

Top tissues by expression

281 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	92.67	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.62	gold quality
granulocyte	CL:0000094	90.23	gold quality
calcaneal tendon	UBERON:0003701	90.10	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.40	gold quality
right testis	UBERON:0004534	88.57	gold quality
left testis	UBERON:0004533	88.38	gold quality
secondary oocyte	CL:0000655	88.17	gold quality
mucosa of transverse colon	UBERON:0004991	87.96	gold quality
sperm	CL:0000019	87.90	gold quality
ganglionic eminence	UBERON:0004023	87.61	gold quality
colonic epithelium	UBERON:0000397	87.50	gold quality
testis	UBERON:0000473	87.39	gold quality
oocyte	CL:0000023	86.71	gold quality
sural nerve	UBERON:0015488	86.50	gold quality
left ovary	UBERON:0002119	86.39	gold quality
male germ cell	CL:0000015	86.31	gold quality
body of pancreas	UBERON:0001150	86.21	gold quality
bone marrow cell	CL:0002092	85.72	gold quality
tibial nerve	UBERON:0001323	85.70	gold quality
adrenal tissue	UBERON:0018303	85.51	gold quality
metanephros cortex	UBERON:0010533	85.26	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.16	gold quality
cerebellar hemisphere	UBERON:0002245	85.15	gold quality
right ovary	UBERON:0002118	85.10	gold quality
spleen	UBERON:0002106	85.07	gold quality
cerebellar cortex	UBERON:0002129	84.97	gold quality
ovary	UBERON:0000992	84.90	gold quality
gall bladder	UBERON:0002110	84.72	gold quality
right lobe of thyroid gland	UBERON:0001119	84.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	245.55
E-ANND-3	yes	6.04

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting CEP192, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-154-3P	99.50	70.05	831
HSA-MIR-487A-3P	99.50	69.95	840
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-7151-5P	99.37	67.82	613
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-140-3P	99.04	67.69	1324
HSA-MIR-6074	98.89	69.64	2187

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 84.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 18)

• Cep192 stimulates the formation of the scaffolding upon which gamma-tubulin ring complexes and other proteins involved in microtubule nucleation and spindle assembly become functional during mitosis. (PMID:17980596)
• major regulator of pericentriolar material recruitment, centrosome maturation, and centriole duplication in mammalian cells (PMID:18207742)
• Cep192-mediated mechanism maximizes AurA activity at centrosomes and appears essential for the function of these organelles as primary microtubule -organizing centers. (PMID:21097701)
• CEP192 promotes robust mitotic spindle assembly by regulating K63-polyubiquitin-mediated signaling through CYLD. (PMID:22895009)
• cooperation between Cep192 and Cep152 is crucial for centriole recruitment of Plk4 and centriole duplication during the cell cycle. (PMID:23641073)
• By modulating Cep192 levels, PHD1 thereby affects the processes of centriole duplication and centrosome maturation and contributes to the regulation of cell-cycle progression. (PMID:23932902)
• Loss of the Cep192- or Cep152-dependent interaction with Plk4 resulted in impaired centriole duplication that led to delayed cell proliferation. (PMID:24277814)
• Interphase cells depleted of Cep192 display significantly higher levels of centrosome-associated Pericentrin while overexpression of Cep192 reduces the levels of centrosomal Pericentrin. (PMID:24971877)
• Plk4 is intricately regulated in time and space through ordered interactions with two distinct scaffolds, Cep192 and Cep152, and a failure in this process may lead to human cancer. (PMID:24997597)
• Study identifies a Cep192-organized signaling cascade that underlies both centrosome maturation and bipolar spindle assembly. (PMID:25042804)
• Plk1 promotes centrosome-based bipolar spindle formation by forming two functionally nonredundant complexes with Cep192. (PMID:26012549)
• Study shows that the interaction between Cep295 and Cep192 seems to be crucial for the integrity of centriole structure and also for daughter-to-mother centriole conversion. (PMID:27562453)
• Here we demonstrate that CEP192 also recruits the type one protein phosphatase (PP1) via a highly conserved KHVTF docking motif. (PMID:28188792)
• induced FBXL13 expression downregulates centrosomal gamma-tubulin and disrupts centrosomal microtubule arrays. In addition, depletion of FBXL13 induces high levels of CEP192 and gamma-tubulin at the centrosomes with the consequence of defects in cell motility. (PMID:29348145)
• Identification of genes in hepatocellular carcinoma induced by non-alcoholic fatty liver disease. (PMID:32623384)
• Centriole and PCM cooperatively recruit CEP192 to spindle poles to promote bipolar spindle assembly. (PMID:33443571)
• CEP192 is a novel prognostic marker and correlates with the immune microenvironment in hepatocellular carcinoma. (PMID:36238304)
• Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192. (PMID:37981762)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cep192	ENSDARG00000104831
mus_musculus	Cep192	ENSMUSG00000024542
rattus_norvegicus	Seh1l	ENSRNOG00000042879

Protein

Protein identifiers

Centrosomal protein of 192 kDa — Q8TEP8 (reviewed: Q8TEP8)

All UniProt accessions (10): Q8TEP8, A0A0A0MR42, H0Y966, H0Y9P3, K7ELX0, K7ENP4, K7EPA2, K7EQZ8, K7ERF9, V9GYM2

UniProt curated annotations — full annotation on UniProt →

Function. Required for mitotic centrosome maturation and bipolar spindle assembly. Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication. Centrosome-specific activating scaffold for AURKA and PLK1.

Subunit / interactions. Interacts with SHBG. Interacts with PLK4; this interaction mediates the formation of a ternary complex composed by PLK4, TENT5C and CEP192. Interacts with CCDC66.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.

Post-translational modifications. Hydroxylation by PHD1/EGLN2 at Pro-2313 promotes ubiquitination. Ubiquitinated by a SCF(SKP2) complex following proline hydroxylation. Ubiquitinated in a FBXL13-dependent manner, leading to proteasomal degradation.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TEP8-3	3	yes
Q8TEP8-1	1
Q8TEP8-2	2

RefSeq proteins (1): NP_115518* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013783	Ig-like_fold	Homologous_superfamily
IPR039103	Spd-2/CEP192	Family
IPR054085	Cep192-like_D1	Domain
IPR054086	Cep192-like_D2	Domain
IPR054087	Cep192-like_D7	Domain
IPR054088	Cep192-like_D8	Domain
IPR054089	Cep192-like_D3	Domain
IPR054090	Cep192_Spd-2-like_dom	Domain
IPR054091	Cep192-like_D5	Domain
IPR054092	Cep192-like_D6	Domain
IPR057662	CEP192_Aurora-A_bind	Binding_site
IPR057665	CEP192_PLK4_bind	Binding_site

Pfam: PF22060, PF22064, PF22065, PF22066, PF22067, PF22073, PF22074, PF22076, PF25763, PF25765

UniProt features (91 total): strand 36, compositionally biased region 11, helix 11, sequence variant 10, region of interest 6, modified residue 5, sequence conflict 4, splice variant 3, turn 3, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
6FVI	X-RAY DIFFRACTION	1
7PTB	X-RAY DIFFRACTION	2.08
8GUW	X-RAY DIFFRACTION	2.7
8PR7	X-RAY DIFFRACTION	2.76
4N7Z	X-RAY DIFFRACTION	2.85
6W3J	X-RAY DIFFRACTION	4.38

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TEP8-F1	51.37	0.02

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 (5): 812, 1755, 2098, 2110, 2313

Mutagenesis-validated functional residues (1):

Position	Phenotype
2313	increased presence on interphasic centrosomes, and decreased presence on mitotic centrosomes; no ubiquitination and unch

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259	Loss of Nlp from mitotic centrosomes
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-8854518	AURKA Activation by TPX2
R-HSA-1640170	Cell Cycle
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-380287	Centrosome maturation
R-HSA-453274	Mitotic G2-G2/M phases
R-HSA-5617833	Cilium Assembly
R-HSA-68877	Mitotic Prometaphase
R-HSA-68886	M Phase
R-HSA-69275	G2/M Transition
R-HSA-69278	Cell Cycle, Mitotic

MSigDB gene sets: 159 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_MICROTUBULE_NUCLEATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, PATIL_LIVER_CANCER, GOBP_CENTRIOLE_ASSEMBLY, GOBP_MITOTIC_SPINDLE_ASSEMBLY, GOBP_ORGANELLE_FISSION, GOCC_CENTROSOME, GOBP_MITOTIC_NUCLEAR_DIVISION, ATTCTTT_MIR186, GOBP_ORGANELLE_ASSEMBLY, GOBP_MITOTIC_CELL_CYCLE, TTGGAGA_MIR5155P_MIR519E, DODD_NASOPHARYNGEAL_CARCINOMA_UP

GO Biological Process (7): centrosome cycle (GO:0007098), centriole replication (GO:0007099), response to bacterium (GO:0009617), protein localization to centrosome (GO:0071539), centrosome-templated microtubule nucleation (GO:0090222), mitotic spindle assembly (GO:0090307), centrosome duplication (GO:0051298)

GO Molecular Function (2): phosphatase binding (GO:0019902), protein binding (GO:0005515)

GO Cellular Component (8): pericentriolar material (GO:0000242), cytoplasm (GO:0005737), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), procentriole (GO:0120098), procentriole replication complex (GO:0120099), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
G2/M Transition	3
Centrosome maturation	2
Cell Cycle, Mitotic	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1
Organelle biogenesis and maintenance	1
M Phase	1
Mitotic G2-G2/M phases	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cell cycle process	3
cytoplasm	3
microtubule organizing center	2
intracellular membraneless organelle	2
microtubule organizing center organization	1
centrosome duplication	1
centriole assembly	1
response to other organism	1
protein localization to microtubule organizing center	1
microtubule nucleation by microtubule organizing center	1
mitotic sister chromatid segregation	1
mitotic spindle organization	1
spindle assembly	1
mitotic nuclear division	1
centrosome cycle	1
enzyme binding	1
binding	1
centrosome	1
intracellular anatomical structure	1
centriole	1
protein-containing complex	1

Protein interactions and networks

STRING

2841 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP192	PLK4	O00444	956
CEP192	PCNT	O95613	896
CEP192	CEP152	O94986	888
CEP192	CDK5RAP2	Q96SN8	847
CEP192	NEDD1	Q8NHV4	839
CEP192	CEP63	Q96MT8	834
CEP192	CEP135	Q66GS9	827
CEP192	SASS6	Q6UVJ0	791
CEP192	CPAP	Q9HC77	780
CEP192	STIL	Q15468	771
CEP192	CEP295	Q9C0D2	756
CEP192	AKAP9	Q99996	729
CEP192	NIN	Q8N4C6	717
CEP192	CEP120	Q8N960	648
CEP192	AURKA	O14965	643

IntAct

130 interactions, top by confidence:

A	B	Type	Score
POLD1	POLD2	psi-mi:“MI:0914”(association)	0.910
PLK4	CEP152	psi-mi:“MI:0914”(association)	0.850
GMNN	MCIDAS	psi-mi:“MI:0914”(association)	0.770
SIL1	HSPA5	psi-mi:“MI:0914”(association)	0.740
EZH2	EPOP	psi-mi:“MI:0914”(association)	0.730
MORF4L1	SIN3B	psi-mi:“MI:0914”(association)	0.730
SLMAP	STRN	psi-mi:“MI:2364”(proximity)	0.710
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
ABCD4	ABCD4	psi-mi:“MI:0914”(association)	0.640
DCTPP1	CEP192	psi-mi:“MI:0915”(physical association)	0.590
AURKB	SEC16A	psi-mi:“MI:2364”(proximity)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
CEP192	PLK4	psi-mi:“MI:0915”(physical association)	0.560
PPP1CA	CEP192	psi-mi:“MI:0915”(physical association)	0.540
PPP1CA	CEP192	psi-mi:“MI:0407”(direct interaction)	0.540
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
AURKA	WDR62	psi-mi:“MI:0914”(association)	0.530
AURKA	PPP6R3	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
CEP192	NUP50	psi-mi:“MI:0915”(physical association)	0.500
CEP192	USP20	psi-mi:“MI:0915”(physical association)	0.500
RPGRIP1L	CCP110	psi-mi:“MI:0914”(association)	0.420
AURKA	AURKA	psi-mi:“MI:0915”(physical association)	0.400
Cep192	AURKA	psi-mi:“MI:0915”(physical association)	0.400
APBA2	CEP192	psi-mi:“MI:0915”(physical association)	0.400
UBE2E3	CEP192	psi-mi:“MI:0915”(physical association)	0.370

ESM2 similar proteins: A0A087WXM9, A0A2K1JJ00, A0JM83, A4IGL8, E1BC15, E9Q5F9, O14513, O35923, O60673, O88491, P46013, P97929, Q14B71, Q28DZ0, Q29RT4, Q3MHH3, Q3TNU4, Q3ZBP0, Q4QY64, Q4V7J0, Q5DTT3, Q5E9A0, Q5F2C3, Q5RD08, Q5VWN6, Q5VYV7, Q61493, Q69YH5, Q6NS59, Q703I1, Q80U59, Q86XD8, Q8IXS0, Q8IYL3, Q8L7I1, Q8N7Z5, Q8NFU7, Q8TEP8, Q92628, Q96BU1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
PLK1	“up-regulates activity”	CEP192	phosphorylation
CEP192	“up-regulates activity”	AURKA	binding
AURKA	“up-regulates activity”	CEP192	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 157 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	6	42.7×	2e-07
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	37.7×	4e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	37.7×	4e-07
Activation of BH3-only proteins	6	27.8×	2e-06
RHO GTPases activate PKNs	7	20.8×	2e-06
Intrinsic Pathway for Apoptosis	7	19.2×	2e-06
AURKA Activation by TPX2	13	18.5×	5e-11
Loss of Nlp from mitotic centrosomes	12	17.8×	3e-10

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	9	46.4×	1e-10
regulation of cilium assembly	5	21.2×	6e-04
protein targeting	6	15.5×	5e-04
mitotic spindle organization	6	11.5×	1e-03
intracellular protein localization	13	9.6×	5e-07
cilium assembly	11	5.7×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	314
Likely benign	35
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

7980 predictions. Top by Δscore:

Variant	Effect	Δscore
18:12991500:GCC:G	donor_gain	1.0000
18:12999419:A:AG	acceptor_gain	1.0000
18:12999419:AGT:A	acceptor_gain	1.0000
18:12999420:G:GA	acceptor_gain	1.0000
18:12999420:GT:G	acceptor_gain	1.0000
18:12999420:GTG:G	acceptor_gain	1.0000
18:12999420:GTGA:G	acceptor_gain	1.0000
18:12999590:T:A	donor_loss	1.0000
18:13001455:A:G	acceptor_loss	1.0000
18:13001456:G:GC	acceptor_loss	1.0000
18:13001575:GATGA:G	donor_gain	1.0000
18:13001578:GATGA:G	donor_gain	1.0000
18:13001579:A:G	donor_gain	1.0000
18:13001580:TGAGT:T	donor_loss	1.0000
18:13001581:GA:G	donor_gain	1.0000
18:13001581:GAGT:G	donor_loss	1.0000
18:13001582:AGT:A	donor_loss	1.0000
18:13001583:G:C	donor_loss	1.0000
18:13001583:G:GG	donor_gain	1.0000
18:13001584:TAA:T	donor_loss	1.0000
18:13008446:A:AG	acceptor_gain	1.0000
18:13008455:GTTCT:G	acceptor_gain	1.0000
18:13008630:AGG:A	donor_loss	1.0000
18:13015436:G:GT	donor_gain	1.0000
18:13015457:GA:G	donor_gain	1.0000
18:13015459:G:GG	donor_gain	1.0000
18:13017180:A:AG	acceptor_gain	1.0000
18:13017186:A:AG	acceptor_gain	1.0000
18:13017187:G:GG	acceptor_gain	1.0000
18:13017304:GGTTT:G	donor_gain	1.0000

AlphaMissense

16652 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:13124664:T:C	F2503S	0.998
18:13073136:T:C	L1856P	0.997
18:13103553:T:A	W2306R	0.997
18:13103553:T:C	W2306R	0.997
18:13117592:T:C	F2475S	0.997
18:13117612:T:C	F2482L	0.997
18:13117614:C:A	F2482L	0.997
18:13117614:C:G	F2482L	0.997
18:13071184:T:A	W1774R	0.996
18:13071184:T:C	W1774R	0.996
18:13072811:T:C	L1802P	0.996
18:13072841:T:C	F1812S	0.996
18:13116430:T:C	F2448S	0.996
18:13116482:T:A	N2465K	0.996
18:13116482:T:G	N2465K	0.996
18:13117640:T:C	L2491S	0.996
18:13124658:T:A	V2501E	0.996
18:13124742:T:C	L2529P	0.996
18:13069141:T:C	L1672S	0.995
18:13096277:T:A	V2176D	0.995
18:13117586:T:C	L2473P	0.995
18:13117591:T:C	F2475L	0.995
18:13117593:T:A	F2475L	0.995
18:13117593:T:G	F2475L	0.995
18:13117613:T:C	F2482S	0.995
18:13057683:T:A	W1403R	0.994
18:13057683:T:C	W1403R	0.994
18:13072772:T:C	L1789S	0.994
18:13072840:T:C	F1812L	0.994
18:13072842:T:A	F1812L	0.994

dbSNP variants (sampled 300 via entrez): RS1000017530 (18:13016038 G>A), RS1000019073 (18:13038094 C>T), RS1000034216 (18:13101560 A>C), RS1000036454 (18:13025563 T>C), RS1000059025 (18:12996954 G>A), RS1000082903 (18:13068559 C>A,T), RS1000108119 (18:13025230 C>G), RS1000128165 (18:13085385 A>C), RS1000150886 (18:13111511 A>T), RS1000152426 (18:13074086 G>A), RS1000174690 (18:13053404 G>A), RS1000228539 (18:13032333 G>A,C), RS1000277881 (18:13045020 C>T), RS1000281453 (18:13062727 G>A), RS1000284611 (18:12991000 CAT>C)

Disease associations

OMIM: gene MIM:616426 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST006269_1196	General cognitive ability	4.000000e-08
GCST90000025_651	Appendicular lean mass	1.000000e-22
GCST90000026_45	Appendicular lean mass	5.000000e-13
GCST90000027_50	Appendicular lean mass	1.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	4
Benzo(a)pyrene	decreases expression	3
sodium arsenite	affects cotreatment, decreases expression, increases abundance	2
Arsenic	decreases expression, increases abundance, affects cotreatment	2
Cyclosporine	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
kojic acid	increases expression	1
arsenite	affects binding, decreases reaction	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
corosolic acid	increases expression	1
abrine	decreases expression	1
Irinotecan	decreases expression	1
Acetaminophen	increases expression	1
Azathioprine	decreases expression	1
Caffeine	decreases phosphorylation	1
Coumestrol	increases expression	1
Doxorubicin	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Tetrachlorodibenzodioxin	affects expression	1
Copper Sulfate	decreases expression	1
1-Butanol	affects cotreatment, decreases expression, increases abundance	1
tert-Butylhydroperoxide	decreases expression	1
Particulate Matter	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.