CEP68

Summary

CEP68 (centrosomal protein 68, HGNC:29076) is a protein-coding gene on chromosome 2p14, encoding Centrosomal protein of 68 kDa (Q76N32). Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting.

Enables protein domain specific binding activity and protein kinase binding activity. Involved in centriole-centriole cohesion and protein localization to organelle. Located in several cellular components, including cytosol; microtubule organizing center; and nucleoplasm.

Source: NCBI Gene 23177 — RefSeq curated summary.

At a glance

• GWAS associations: 30
• Clinical variants (ClinVar): 170 total
• MANE Select transcript: NM_015147

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29076
Approved symbol	CEP68
Name	centrosomal protein 68
Location	2p14
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000011523
Ensembl biotype	protein_coding
OMIM	616889
Entrez	23177

Gene structure

Transcript identifiers

Ensembl transcripts: 43 — 27 protein_coding, 7 nonsense_mediated_decay, 6 retained_intron, 2 protein_coding_CDS_not_defined, 1 non_stop_decay

ENST00000260569, ENST00000377990, ENST00000475851, ENST00000497039, ENST00000537589, ENST00000703915, ENST00000703921, ENST00000703983, ENST00000703985, ENST00000704387, ENST00000704388, ENST00000704418, ENST00000704419, ENST00000704447, ENST00000704448, ENST00000704449, ENST00000704450, ENST00000704454, ENST00000704456, ENST00000704479, ENST00000704480, ENST00000704481, ENST00000704482, ENST00000704483, ENST00000704484, ENST00000704486, ENST00000704487, ENST00000704570, ENST00000704642, ENST00000704643, ENST00000706268, ENST00000887743, ENST00000887744, ENST00000887745, ENST00000887746, ENST00000887747, ENST00000887748, ENST00000887749, ENST00000928054, ENST00000949587, ENST00000949588, ENST00000949589, ENST00000949590

RefSeq mRNA: 4 — MANE Select: NM_015147 NM_001319100, NM_001319101, NM_001410838, NM_015147

CCDS: CCDS1880, CCDS82457, CCDS92772

Canonical transcript exons

ENST00000377990 — 7 exons

Exon	Start	End
ENSE00001401336	65083639	65087004
ENSE00003990501	65071454	65072980
ENSE00003990503	65069399	65069801
ENSE00003990506	65077868	65077964
ENSE00003990513	65082536	65082709
ENSE00003990514	65074282	65074404
ENSE00003995337	65056416	65056528

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 95.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.5058 / max 151.2561, expressed in 1806 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
20613	15.0800	1805
20612	0.4258	211

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
biceps brachii	UBERON:0001507	95.99	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	95.86	gold quality
gluteal muscle	UBERON:0002000	95.41	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.83	gold quality
skin of hip	UBERON:0001554	94.42	gold quality
upper leg skin	UBERON:0004262	94.26	gold quality
superficial temporal artery	UBERON:0001614	94.21	gold quality
parietal pleura	UBERON:0002400	93.77	gold quality
urethra	UBERON:0000057	93.63	gold quality
nipple	UBERON:0002030	93.43	gold quality
synovial joint	UBERON:0002217	93.12	gold quality
seminal vesicle	UBERON:0000998	93.04	gold quality
mammary duct	UBERON:0001765	92.63	gold quality
pleura	UBERON:0000977	92.58	gold quality
vastus lateralis	UBERON:0001379	92.47	gold quality
epithelium of mammary gland	UBERON:0003244	92.02	gold quality
triceps brachii	UBERON:0001509	91.74	gold quality
visceral pleura	UBERON:0002401	91.45	gold quality
paraflocculus	UBERON:0005351	91.40	gold quality
heart right ventricle	UBERON:0002080	91.36	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.24	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.19	gold quality
quadriceps femoris	UBERON:0001377	91.17	gold quality
skeletal muscle tissue	UBERON:0001134	91.16	gold quality
lateral nuclear group of thalamus	UBERON:0002736	90.78	gold quality
endothelial cell	CL:0000115	90.67	gold quality
mammary gland	UBERON:0001911	90.62	gold quality
thoracic mammary gland	UBERON:0005200	90.60	gold quality
hair follicle	UBERON:0002073	90.41	gold quality
pericardium	UBERON:0002407	90.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

113 targeting CEP68, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4694-3P	99.79	69.53	2640

Literature-anchored findings (GeneRIF, showing 11)

• our study is the first to identify and validate Endofin, DCBLD2, and KIAA0582 as part of a complex EGF phosphotyrosine signaling network (PMID:17570516)
• data suggest that Cep68 cooperates with rootletin and C-Nap1 in centrosome cohesion. (PMID:18042621)
• Findings imply that CEP68 could be a susceptible gene for aspirin intolerance in asthmatics. (PMID:21072201)
• Centlein complexes with C-Nap1 and Cep68 at the proximal ends of centrioles during interphase. (PMID:24554434)
• CEP68 gene variants may play an important role in MNSAID-UA susceptibility and, despite the different regulatory mechanisms involved depending on the specific affected organ, in the development of hypersensitivity reactions to NSAIDs. (PMID:24618698)
• Cep68 degradation allows Cep215 removal from peripheral pericentriolar material (PCM) preventing centriole separation following disengagement, PCNT cleavage mediates Cep215 removal from core of the PCM to inhibit centriole disengagement and duplication (PMID:25503564)
• C-terminal 300-400 amino acids of Cep68 are necessary to localize Cep68 to interphase centrosomes while C-terminal 400-500 amino acids might regulate Cep68 dissociation from centrosomes at mitotic onset. (PMID:25704143)
• It has been proposed that the archetypal linker protein Rootletin maintains centrosome cohesion in part through inhibition of VHL-mediated Cep68 degradation. (PMID:28089774)
• The Cep68 protein level needs to be fine-tuned in order to ensure that its direct interactors, such as the microcephaly protein Cep215 and PCNT, function properly. (PMID:28578000)
• CEP68 is important in forming rootletin filaments that branch off centrioles and to modulate the thickness of rootletin fibers. (PMID:29463719)
• Two intronic variants (rs2241160 and rs2241161) were significantly associated with an increased risk of single-NSAID-induced urticaria/angioedema or anaphylaxis (SNIUAA), suggesting CEP68 to be a key player in both types of Non-steroidal anti-inflammatory drugs hypersensitivity. (PMID:30093714)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cep68	ENSDARG00000039411
mus_musculus	Cep68	ENSMUSG00000044066
rattus_norvegicus	Cep68	ENSRNOG00000027282

Paralogs (1): AKAP6 (ENSG00000151320)

Protein

Protein identifiers

Centrosomal protein of 68 kDa — Q76N32 (reviewed: Q76N32)

All UniProt accessions (16): Q76N32, A0A994J407, A0A994J4E5, A0A994J4F4, A0A994J4G3, A0A994J4N5, A0A994J4P0, A0A994J4R2, A0A994J525, A0A994J529, A0A994J534, A0A994J6P7, A0A994J719, A0A994J770, A0A994J7F1, A0A994J7G1

UniProt curated annotations — full annotation on UniProt →

Function. Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting. Required for localization of CDK5RAP2 to the centrosome during interphase. Contributes to CROCC/rootletin filament formation.

Subunit / interactions. Interacts with CNTLN; the interaction recruits CEP68 to the centrosome. Interacts with the SCF(FBXW11) complex which contains SKP1, CUL1 and FBXW11; the interaction is probably mediated by FBXW11 and the complex also contains CDK5RAP2 and PCNT. Also interacts with F-box protein BTRC. Interacts with serine/threonine-protein kinase PLK1; the interaction leads to phosphorylation of CEP68 and its subsequent degradation. Interacts with NEK2; the interaction leads to phosphorylation of CEP68.

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

Post-translational modifications. Phosphorylation by PLK1 is required for binding to BTRC in prometaphase. Phosphorylated directly or indirectly by NEK2. NEK2-mediated phosphorylation promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis. Ubiquitinated and targeted for proteasomal degradation in early mitosis by the SCF(BTRC) and/or SCF(FBXW11) E3 ubiquitin-protein ligase complexes. Degradation is complete by prometaphase and is required for removal of CDK5RAP2 from the peripheral pericentriolar material and subsequent centriole separation.

Isoforms (2)

UniProt ID	Names	Canonical?
Q76N32-1	1	yes
Q76N32-2	2

RefSeq proteins (4): NP_001306029, NP_001306030, NP_001397767, NP_055962* (*=MANE)

Domains & families (InterPro)

UniProt features (29 total): compositionally biased region 10, region of interest 6, sequence variant 5, modified residue 3, mutagenesis site 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q76N32-F1	49.36	0.06

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 (3): 332, 472, 478

Mutagenesis-validated functional residues (3):

Position	Phenotype
331–337	prevents binding to btrc and down-regulation of cep68 during mitosis.
332	prevents binding to btrc and down-regulation of cep68 during mitosis.
337	reduces cep68 binding to btrc.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 195 (showing top): KOBAYASHI_EGFR_SIGNALING_24HR_UP, BROWNE_HCMV_INFECTION_6HR_DN, chr2p14, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, MODULE_205, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOCC_CENTROSOME, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_UP, SCHLOSSER_SERUM_RESPONSE_DN, SCHLOSSER_MYC_TARGETS_AND_SERUM_RESPONSE_UP, CAIRO_HEPATOBLASTOMA_UP, PETROVA_ENDOTHELIUM_LYMPHATIC_VS_BLOOD_UP, BOYLAN_MULTIPLE_MYELOMA_C_D_UP

GO Biological Process (3): centrosome cycle (GO:0007098), centriole-centriole cohesion (GO:0010457), protein localization to organelle (GO:0033365)

GO Molecular Function (3): protein kinase binding (GO:0019901), protein domain specific binding (GO:0019904), protein binding (GO:0005515)

GO Cellular Component (8): nucleoplasm (GO:0005654), centrosome (GO:0005813), cytosol (GO:0005829), cell junction (GO:0030054), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cell cycle process	2
microtubule organizing center	2
microtubule organizing center organization	1
centrosome cycle	1
intracellular protein localization	1
kinase binding	1
protein binding	1
binding	1
nuclear lumen	1
centriole	1
cytoplasm	1
centrosome	1
cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

398 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP68	CROCC	Q5TZA2	497
CEP68	LRRC43	Q8N309	447
CEP68	CNTLN	Q9NXG0	436
CEP68	BRD3OS	A0A1B0GUI7	434
CEP68	LRRC45	Q96CN5	420
CEP68	LGALSL	Q3ZCW2	418
CEP68	DCBLD2	Q96PD2	400
CEP68	SLC1A4	P43007	376
CEP68	CNTROB	Q8N137	374
CEP68	FILIP1	Q7Z7B0	371
CEP68	SERTAD2	Q14140	371
CEP68	ZFYVE16	Q7Z3T8	369
CEP68	TMEM116	Q8NCL8	350
CEP68	NEURL4	Q96JN8	350
CEP68	CCP110	O43303	348

IntAct

32 interactions, top by confidence:

A	B	Type	Score
CEP68	CDK5RAP2	psi-mi:“MI:0914”(association)	0.680
CEP68	CDK5RAP2	psi-mi:“MI:0915”(physical association)	0.680
LPXN	PCNT	psi-mi:“MI:0914”(association)	0.640
CTBP1	CEP68	psi-mi:“MI:0915”(physical association)	0.560
CEP68	USHBP1	psi-mi:“MI:0915”(physical association)	0.560
CEP68	CTBP1	psi-mi:“MI:0915”(physical association)	0.560
PLK1	CEP68	psi-mi:“MI:0217”(phosphorylation reaction)	0.540
CEP68	PLK1	psi-mi:“MI:0915”(physical association)	0.540
rep	TBKBP1	psi-mi:“MI:0914”(association)	0.530
CEP68	PCNT	psi-mi:“MI:0914”(association)	0.500
CEP68	BTRC	psi-mi:“MI:0915”(physical association)	0.500
CEP68	PCNT	psi-mi:“MI:0915”(physical association)	0.500
CEP68		psi-mi:“MI:0915”(physical association)	0.370
Prkacb	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Prkar2a	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Uso1	SLC30A6	psi-mi:“MI:0914”(association)	0.350
PRKAR2B	SEC16A	psi-mi:“MI:0914”(association)	0.350
CDK5RAP2	PDHX	psi-mi:“MI:0914”(association)	0.350
CDK5RAP2	SPTBN2	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
POC5	PDHX	psi-mi:“MI:0914”(association)	0.350
CACNA1C	SYT5	psi-mi:“MI:0914”(association)	0.350

BioGRID (50): CEP68 (Two-hybrid), USHBP1 (Two-hybrid), BTRC (Affinity Capture-Western), CDK5RAP2 (Affinity Capture-Western), PCNT (Affinity Capture-Western), CEP68 (Affinity Capture-MS), CEP68 (Affinity Capture-MS), CEP68 (Affinity Capture-MS), CEP68 (Affinity Capture-MS), VHL (Affinity Capture-MS), CEP68 (Affinity Capture-Western), VHL (Affinity Capture-Western), CEP68 (Biochemical Activity), CEP68 (Affinity Capture-MS), MCM7 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: Q5RCQ2, Q76N32, Q8C0D9, Q13023

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
NEK2	“down-regulates quantity by destabilization”	CEP68	phosphorylation
PLK1	“down-regulates quantity by destabilization”	CEP68	phosphorylation
SCF-betaTRCP	“down-regulates quantity by destabilization”	CEP68	ubiquitination
CEP68	“up-regulates activity”	PCNT	relocalization
CEP68	“up-regulates activity”	CDK5RAP2	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 24 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
Loss of Nlp from mitotic centrosomes	5	66.1×	3e-07
Loss of proteins required for interphase microtubule organization from the centrosome	5	66.1×	3e-07
Regulation of PLK1 Activity at G2/M Transition	6	63.4×	3e-08
AURKA Activation by TPX2	5	63.4×	3e-07
Recruitment of mitotic centrosome proteins and complexes	5	56.6×	4e-07
Recruitment of NuMA to mitotic centrosomes	5	48.5×	7e-07
Anchoring of the basal body to the plasma membrane	5	47.1×	7e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	132
Likely benign	18
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

1402 predictions. Top by Δscore:

Variant	Effect	Δscore
2:65056520:GTGCG:G	donor_gain	1.0000
2:65056525:G:GG	donor_gain	1.0000
2:65074277:TGCA:T	acceptor_loss	1.0000
2:65074280:A:AG	acceptor_gain	1.0000
2:65074280:AGA:A	acceptor_loss	1.0000
2:65074281:G:A	acceptor_loss	1.0000
2:65074281:G:GC	acceptor_gain	1.0000
2:65074281:GA:G	acceptor_gain	1.0000
2:65074281:GAC:G	acceptor_gain	1.0000
2:65074281:GACA:G	acceptor_gain	1.0000
2:65074281:GACAT:G	acceptor_gain	1.0000
2:65074377:TCTC:T	donor_gain	1.0000
2:65077854:T:TA	acceptor_gain	1.0000
2:65077858:A:AG	acceptor_gain	1.0000
2:65077858:AC:A	acceptor_gain	1.0000
2:65077859:C:CA	acceptor_gain	1.0000
2:65077859:C:G	acceptor_gain	1.0000
2:65056522:GCG:G	donor_gain	0.9900
2:65056522:GCGGT:G	donor_loss	0.9900
2:65056524:GGTA:G	donor_loss	0.9900
2:65056525:GTAG:G	donor_loss	0.9900
2:65056526:T:G	donor_loss	0.9900
2:65069515:G:GT	donor_gain	0.9900
2:65069525:G:GT	donor_gain	0.9900
2:65069580:G:GT	donor_gain	0.9900
2:65069584:C:G	donor_gain	0.9900
2:65069589:G:GT	donor_gain	0.9900
2:65069590:G:T	donor_gain	0.9900
2:65074277:T:TA	acceptor_gain	0.9900
2:65074403:GG:G	donor_gain	0.9900

AlphaMissense

4873 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:65072001:T:C	L302P	0.997
2:65071991:T:C	Y299H	0.996
2:65071975:G:C	W293C	0.995
2:65071975:G:T	W293C	0.995
2:65071973:T:A	W293R	0.994
2:65071973:T:C	W293R	0.994
2:65071992:A:G	Y299C	0.993
2:65072004:T:C	L303P	0.993
2:65071918:G:C	W274C	0.992
2:65071918:G:T	W274C	0.992
2:65071992:A:C	Y299S	0.992
2:65072004:T:A	L303H	0.992
2:65074307:T:C	L637P	0.992
2:65077876:G:C	K672N	0.990
2:65077876:G:T	K672N	0.990
2:65072015:T:G	Y307D	0.989
2:65077925:G:T	G689W	0.989
2:65071958:C:A	R288S	0.988
2:65077914:T:A	V685D	0.988
2:65074285:T:C	F630L	0.987
2:65074287:T:A	F630L	0.987
2:65074287:T:G	F630L	0.987
2:65071916:T:A	W274R	0.986
2:65071916:T:C	W274R	0.986
2:65071991:T:G	Y299D	0.986
2:65074298:T:C	L634P	0.986
2:65074403:G:C	R669P	0.986
2:65077925:G:A	G689R	0.986
2:65077925:G:C	G689R	0.986
2:65074319:T:C	L641P	0.984

dbSNP variants (sampled 300 via entrez): RS1000215502 (2:65066101 G>A,C), RS1000421607 (2:65069310 A>G), RS1000535970 (2:65070175 G>A), RS1000639279 (2:65087299 A>G), RS1000710044 (2:65081311 C>G), RS1000814267 (2:65067718 G>A), RS1000876991 (2:65068960 A>G), RS1000884130 (2:65058705 C>T), RS1000906094 (2:65078627 T>C), RS1001220500 (2:65075851 A>G), RS1001377159 (2:65084093 A>AT), RS1001449767 (2:65058047 A>C,G), RS1001499323 (2:65064189 T>C), RS1001503429 (2:65058311 C>A,G,T), RS1001702307 (2:65069918 G>A)

Disease associations

OMIM: gene MIM:616889 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST002897_13	Triglycerides	7.000000e-09
GCST004278_16	Pulse pressure	1.000000e-12
GCST004295_1	Atrial fibrillation	3.000000e-10
GCST004297_3	Atrial fibrillation	2.000000e-10
GCST004373_6	Atrial fibrillation	3.000000e-17
GCST006061_165	Atrial fibrillation	8.000000e-25
GCST006061_168	Atrial fibrillation	8.000000e-20
GCST006414_114	Atrial fibrillation	3.000000e-22
GCST006613_9	Triglycerides	1.000000e-19
GCST006666_8	Lipid traits (pleiotropy) (HIPO component 1)	1.000000e-08
GCST006867_12	Type 2 diabetes	1.000000e-11
GCST007096_110	Pulse pressure	6.000000e-11
GCST007099_94	Systolic blood pressure	9.000000e-07
GCST007267_288	Systolic blood pressure	4.000000e-12
GCST007269_70	Pulse pressure	6.000000e-20
GCST007515_6	Type 2 diabetes	8.000000e-09
GCST007516_1	Type 2 diabetes (adjusted for BMI)	7.000000e-07
GCST007517_5	Type 2 diabetes	8.000000e-06
GCST007518_7	Type 2 diabetes (adjusted for BMI)	6.000000e-06
GCST007930_28	Medication use (agents acting on the renin-angiotensin system)	5.000000e-08
GCST009379_22	Type 2 diabetes	2.000000e-14
GCST009379_23	Type 2 diabetes	3.000000e-06
GCST009379_24	Type 2 diabetes	2.000000e-12
GCST009602_14	Metabolic syndrome	5.000000e-11
GCST010241_230	Apolipoprotein A1 levels	2.000000e-09
GCST010242_309	HDL cholesterol levels	3.000000e-14
GCST010244_265	Triglyceride levels	3.000000e-20
GCST011320_42	Type 2 diabetes or prostate cancer (pleiotropy)	8.000000e-09
GCST012460_3	Atrial fibrillation	5.000000e-14
GCST90002401_374	Platelet distribution width	1.000000e-15

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0005763	pulse pressure measurement
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0006335	systolic blood pressure
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0000195	metabolic syndrome
EFO:0004614	apolipoprotein A 1 measurement
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs7572857	Toxicity	3	aspirin	Asthma

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs7572857	CEP68	3	6.50	1	aspirin

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	7
trichostatin A	affects cotreatment, decreases expression, affects expression	4
Vorinostat	increases expression	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
Tretinoin	decreases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
glycidyl methacrylate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
tacedinaline	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
NSC 689534	affects binding, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Glyphosate	affects methylation	1
Arsenic	affects methylation	1
Aspirin	affects response to substance	1
Caffeine	decreases phosphorylation	1
Copper	affects binding, decreases expression	1
Diazinon	increases methylation	1
Drugs, Chinese Herbal	increases expression	1

Clinical trials (associated diseases)

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