CEP72

Summary

CEP72 (centrosomal protein 72, HGNC:25547) is a protein-coding gene on chromosome 5p15.33, encoding Centrosomal protein of 72 kDa (Q9P209). Involved in the recruitment of key centrosomal proteins to the centrosome.

The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells.

Source: NCBI Gene 55722 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 197 total
• MANE Select transcript: NM_018140

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25547
Approved symbol	CEP72
Name	centrosomal protein 72
Location	5p15.33
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1519, FLJ10565
Ensembl gene	ENSG00000112877
Ensembl biotype	protein_coding
OMIM	616475
Entrez	55722

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000264935, ENST00000499639, ENST00000512038, ENST00000514507, ENST00000856935, ENST00000919286, ENST00000919287, ENST00000919288, ENST00000919289, ENST00000919290

RefSeq mRNA: 1 — MANE Select: NM_018140 NM_018140

CCDS: CCDS34126

Canonical transcript exons

ENST00000264935 — 12 exons

Exon	Start	End
ENSE00000720617	620069	620261
ENSE00000720695	618990	619117
ENSE00000852201	624471	624579
ENSE00000852203	633769	633947
ENSE00001718632	652988	653553
ENSE00002082281	612340	612443
ENSE00003556071	640408	640604
ENSE00003596762	647805	647916
ENSE00003612730	644299	644425
ENSE00003629190	637517	637818
ENSE00003646765	635372	635584
ENSE00003677021	639089	639224

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 86.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6684 / max 67.5364, expressed in 1356 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
55496	6.2506	1342
55495	0.3807	223
55497	0.0371	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.17	gold quality
ventricular zone	UBERON:0003053	82.90	gold quality
cerebellar hemisphere	UBERON:0002245	81.05	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.82	gold quality
cerebellar cortex	UBERON:0002129	80.69	gold quality
left testis	UBERON:0004533	80.48	gold quality
right testis	UBERON:0004534	80.24	gold quality
testis	UBERON:0000473	78.81	gold quality
ganglionic eminence	UBERON:0004023	78.79	gold quality
sural nerve	UBERON:0015488	78.58	gold quality
right frontal lobe	UBERON:0002810	78.44	gold quality
lower esophagus mucosa	UBERON:0035834	78.17	gold quality
cerebellum	UBERON:0002037	77.83	gold quality
right uterine tube	UBERON:0001302	77.82	gold quality
granulocyte	CL:0000094	76.43	gold quality
skin of abdomen	UBERON:0001416	76.01	gold quality
cortical plate	UBERON:0005343	75.91	gold quality
palpebral conjunctiva	UBERON:0001812	75.80	gold quality
caudate nucleus	UBERON:0001873	75.78	gold quality
Brodmann (1909) area 9	UBERON:0013540	75.68	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	75.62	gold quality
skin of leg	UBERON:0001511	75.52	gold quality
nucleus accumbens	UBERON:0001882	75.36	gold quality
tibial artery	UBERON:0007610	75.20	gold quality
popliteal artery	UBERON:0002250	75.19	gold quality
anterior cingulate cortex	UBERON:0009835	74.96	gold quality
cingulate cortex	UBERON:0003027	74.88	gold quality
left ovary	UBERON:0002119	74.83	gold quality
prefrontal cortex	UBERON:0000451	74.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting CEP72, 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-4692	100.00	67.32	2066
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-154-3P	99.50	70.05	831
HSA-MIR-487A-3P	99.50	69.95	840
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-3166	98.24	66.63	1223
HSA-MIR-5585-5P	97.95	68.80	1024
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-4712-5P	97.24	67.79	775
HSA-MIR-770-5P	97.24	68.10	758
HSA-MIR-1243	97.07	65.44	719

Literature-anchored findings (GeneRIF, showing 13)

• Findings show that Cep72 is the key protein essential for maintaining microtubule-organizing activity and structural integrity of the centrosome. (PMID:19536135)
• In this study an inherited polymorphism in the promoter region of CEP72 was associated with increased risk and severity of vincristine-related peripheral neuropathy. (PMID:25710658)
• CEP72 represents a putative oncogene in colorectal cancer that might negatively regulate the mitotic function of BRCA1 to ensure chromosomal stability (PMID:26300001)
• aim of this study was to determine whether the CEP72 rs924607 TT genotype is a useful marker of vincristine neuropathy during induction therapy among Spanish children with B-ALL treated on the LAL-SHOP protocols (PMID:26618658)
• The CEP72 polymorphism can identify adults at increased risk of vincristine-induced peripheral neuropathy (PMID:27618250)
• CEP72-ROS1 is a novel ROS1 fusion variant in non-small cell lung cancer (NSCLC) discovered by next-generation sequencing and could be included in ROS1 detection assay, such as reverse transcription PCR. (PMID:29517860)
• Concerning CEP72, our results are in line with the findings from the St Jude cohort of children treated for ALL with higher vincristine doses during chronic treatment. Larger high-throughput genetic analyses may be warranted to evaluate variants in other candidate genes such as CYP3A5 and reveal new nonpreviously reported alleles that may be peculiar to this region of the world (PMID:30119132)
• overexpression of CEP72 was associated with a sizable increase in cAMP response element-binding protein binding at the SERPINE1 promoter, leading to increased SERPINE1 transcription. (PMID:30953603)
• Functional genetic variants in centrosome-related genes CEP72 and YWHAG confer susceptibility to gastric cancer. (PMID:32535685)
• Association of CEP72 rs924607 TT Genotype with Vincristine-induced Peripheral Neuropathy Measured by Motor Nerve Conduction Studies.", trans “Assoziation von CEP72 rs924607TTGenotyp mit Vincristin-induzierter peripherer Neuropathie, gemessen durch Untersuchungen der motorischen Nervenleitung. (PMID:32877958)
• Comprehensive assessments of germline deletion structural variants reveal the association between prognostic MUC4 and CEP72 deletions and immune response gene expression in colorectal cancer patients. (PMID:33431054)
• Association between CEP72 genotype and persistent neuropathy in survivors of childhood acute lymphoblastic leukemia. (PMID:34980876)
• Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients. (PMID:35150001)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cep72	ENSDARG00000105258
mus_musculus	Cep72	ENSMUSG00000021572
rattus_norvegicus	Cep72	ENSRNOG00000015465

Paralogs (1): LRRC36 (ENSG00000159708)

Protein

Protein identifiers

Centrosomal protein of 72 kDa — Q9P209 (reviewed: Q9P209)

All UniProt accessions (1): Q9P209

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the recruitment of key centrosomal proteins to the centrosome. Provides centrosomal microtubule-nucleation activity on the gamma-tubulin ring complexes (gamma-TuRCs) and has critical roles in forming a focused bipolar spindle, which is needed for proper tension generation between sister chromatids. Required for localization of KIZ, AKAP9 and gamma-tubulin ring complexes (gamma-TuRCs). Involved in centriole duplication. Required for CDK5RAP22, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2.

Subunit / interactions. Interacts with KIZ, PCM1 and CDK5RAP2.

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

Similarity. Belongs to the CEP72 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9P209-1	1	yes
Q9P209-2	2

RefSeq proteins (1): NP_060610* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR003603	U2A’_phosphoprotein32A_C	Domain
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR055320	CEP72-like	Family

Pfam: PF14580

UniProt features (22 total): compositionally biased region 4, repeat 3, modified residue 3, sequence variant 3, region of interest 3, splice variant 2, chain 1, sequence conflict 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P209-F1	65.74	0.33

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): 237, 382, 404

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: 111 (showing top): GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CENTRIOLE_ASSEMBLY, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, NIKOLSKY_BREAST_CANCER_5P15_AMPLICON, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, FISCHER_DREAM_TARGETS, GOBP_CENTROSOME_DUPLICATION, LEIN_CEREBELLUM_MARKERS, MARSON_BOUND_BY_E2F4_UNSTIMULATED, SANSOM_APC_TARGETS, GOBP_CELL_CYCLE_PROCESS, GOCC_CENTRIOLAR_SATELLITE

GO Biological Process (4): spindle organization (GO:0007051), centriole replication (GO:0007099), gamma-tubulin complex localization (GO:0033566), regulation of protein localization to centrosome (GO:1904779)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (6): centrosome (GO:0005813), cytosol (GO:0005829), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), 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	3
cell cycle process	2
microtubule organizing center	2
microtubule cytoskeleton organization	1
centrosome duplication	1
centriole assembly	1
protein-containing complex localization	1
regulation of protein localization	1
protein localization to centrosome	1
protein binding	1
binding	1
centriole	1
cytoplasm	1
centrosome	1
cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

870 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP72	CEP290	O15078	720
CEP72	CEP131	Q9UPN4	683
CEP72	AKAP9	Q99996	614
CEP72	PCM1	Q15154	597
CEP72	CNTLN	Q9NXG0	571
CEP72	CCDC66	A2RUB6	541
CEP72	KIZ	Q2M2Z5	541
CEP72	PIBF1	Q8WXW3	530
CEP72	BBS4	Q96RK4	528
CEP72	HAUS6	Q7Z4H7	514
CEP72	CCDC14	Q49A88	512
CEP72	NIN	Q8N4C6	485
CEP72	CEP192	Q8TEP8	485
CEP72	CEP170	Q5SW79	478
CEP72	CEP63	Q96MT8	478

IntAct

190 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
PCM1	CEP72	psi-mi:“MI:0915”(physical association)	0.850
CEP72	PCM1	psi-mi:“MI:0915”(physical association)	0.850
CSNK1E	PER1	psi-mi:“MI:0914”(association)	0.840
NME7	CEP72	psi-mi:“MI:0915”(physical association)	0.830
CEP72	NME7	psi-mi:“MI:0915”(physical association)	0.830
LNX1	CEP72	psi-mi:“MI:0915”(physical association)	0.800
CEP72	LNX1	psi-mi:“MI:0915”(physical association)	0.800
SPATA24	CEP72	psi-mi:“MI:0915”(physical association)	0.740
CEP72	SPATA24	psi-mi:“MI:0915”(physical association)	0.740
SEPTIN11	SEPTIN2	psi-mi:“MI:0914”(association)	0.740
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
STAMBPL1	CEP72	psi-mi:“MI:0915”(physical association)	0.720
CEP72	STAMBPL1	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (185): CEP72 (Two-hybrid), CEP72 (Two-hybrid), CEP72 (Two-hybrid), CEP72 (Two-hybrid), CEP72 (Two-hybrid), STAMBPL1 (Two-hybrid), SPATA24 (Two-hybrid), CATIP (Two-hybrid), CEP72 (Affinity Capture-MS), CEP72 (Affinity Capture-MS), CEP72 (Two-hybrid), CEP72 (Two-hybrid), CEP72 (Two-hybrid), LNX1 (Two-hybrid), ZNF417 (Two-hybrid)

ESM2 similar proteins: A0A571BF63, A0A8M9QN10, A2ARM1, A2CI97, A2CI98, A2CJ06, E9Q3C1, O15482, O54786, O70167, O70173, P0C6P5, P15304, P56645, P59729, P97433, P97499, Q0VG85, Q3V0F0, Q5BIW4, Q5BK24, Q5EB20, Q5PNP6, Q5PQS0, Q5RD34, Q5TKR9, Q5VUB5, Q61194, Q6ZUJ8, Q71M44, Q7TSI1, Q80TF6, Q80U38, Q8BV79, Q8BZ21, Q8K3F4, Q8N1W1, Q8N957, Q8ND61, Q8TB24

Diamond homologs: Q1X8D7, Q3V0M2, Q501X2, Q8CDN9, Q9BLB6, Q9D3R3, Q9P209, P34390, Q4P5F9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CEP72	“up-regulates activity”	CDK5RAP2	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 150 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	19	39.6×	3e-24
Loss of proteins required for interphase microtubule organization from the centrosome	19	39.6×	3e-24
AURKA Activation by TPX2	19	38.1×	6e-24
Recruitment of mitotic centrosome proteins and complexes	21	37.6×	7e-26
Regulation of PLK1 Activity at G2/M Transition	20	33.4×	6e-24
Centrosome maturation	10	33.4×	1e-11
Anchoring of the basal body to the plasma membrane	22	32.7×	7e-26
Recruitment of NuMA to mitotic centrosomes	21	32.2×	1e-24

GO biological processes:

GO term	Partners	Fold	FDR
microtubule nucleation	8	45.8×	4e-09
centriole replication	6	40.3×	2e-06
protein localization to centrosome	5	30.9×	8e-05
spindle assembly	6	24.4×	3e-05
centrosome cycle	6	18.6×	1e-04
non-motile cilium assembly	6	16.0×	2e-04
cytoplasmic microtubule organization	5	15.8×	1e-03
cilium assembly	12	8.1×	8e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	145
Likely benign	19
Benign	11

Top pathogenic / likely-pathogenic (0)

SpliceAI

3460 predictions. Top by Δscore:

Variant	Effect	Δscore
5:618988:A:AG	acceptor_gain	1.0000
5:618988:AGCT:A	acceptor_gain	1.0000
5:618989:G:GG	acceptor_gain	1.0000
5:618989:GC:G	acceptor_gain	1.0000
5:618989:GCT:G	acceptor_gain	1.0000
5:618989:GCTG:G	acceptor_gain	1.0000
5:618989:GCTGA:G	acceptor_gain	1.0000
5:619114:GGAG:G	donor_gain	1.0000
5:619115:GAGG:G	donor_gain	1.0000
5:619119:TAAGT:T	donor_loss	1.0000
5:620063:T:A	acceptor_gain	1.0000
5:620067:A:AG	acceptor_gain	1.0000
5:620067:AG:A	acceptor_gain	1.0000
5:620067:AGG:A	acceptor_gain	1.0000
5:620068:G:GT	acceptor_gain	1.0000
5:620068:GG:G	acceptor_gain	1.0000
5:620068:GGG:G	acceptor_gain	1.0000
5:620068:GGGC:G	acceptor_gain	1.0000
5:620068:GGGCA:G	acceptor_gain	1.0000
5:620257:GCTGG:G	donor_gain	1.0000
5:633916:GGGGC:G	donor_gain	1.0000
5:633917:GGGCG:G	donor_gain	1.0000
5:633918:G:T	donor_gain	1.0000
5:638065:G:T	donor_gain	1.0000
5:639087:A:AG	acceptor_gain	1.0000
5:639087:AGCC:A	acceptor_gain	1.0000
5:639088:G:GA	acceptor_gain	1.0000
5:639088:GC:G	acceptor_gain	1.0000
5:639088:GCC:G	acceptor_gain	1.0000
5:639088:GCCG:G	acceptor_gain	1.0000

AlphaMissense

4228 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:620116:C:A	N86K	0.995
5:620116:C:G	N86K	0.995
5:619099:C:A	N64K	0.993
5:619099:C:G	N64K	0.993
5:620191:C:A	N111K	0.993
5:620191:C:G	N111K	0.993
5:619098:A:T	N64I	0.991
5:619104:T:C	L66S	0.991
5:619089:T:C	L61P	0.990
5:619083:T:C	L59S	0.989
5:619089:T:A	L61H	0.989
5:620091:T:G	L78W	0.988
5:620229:T:A	V124D	0.988
5:620100:T:A	L81H	0.987
5:620115:A:T	N86I	0.986
5:620261:G:C	D135H	0.985
5:620100:T:C	L81P	0.984
5:619095:G:C	R63P	0.983
5:620106:T:A	L83H	0.983
5:620106:T:C	L83P	0.983
5:619017:G:A	G37E	0.982
5:619098:A:C	N64T	0.982
5:620189:A:G	N111D	0.982
5:653014:T:C	L602P	0.982
5:620069:G:C	G71R	0.981
5:620114:A:T	N86Y	0.981
5:624471:A:T	D135V	0.981
5:620091:T:C	L78S	0.980
5:620184:G:C	R109P	0.980
5:647901:T:C	L588P	0.980

dbSNP variants (sampled 300 via entrez): RS1000021842 (5:620988 A>G,T), RS1000023129 (5:637200 C>T), RS1000032079 (5:628480 G>C), RS1000084045 (5:628959 C>T), RS1000167492 (5:615955 T>C), RS1000215963 (5:653140 G>A,C,T), RS1000239258 (5:645547 T>C,G), RS1000248651 (5:653381 T>G), RS1000261831 (5:656493 G>C), RS1000266295 (5:670083 C>T), RS1000278923 (5:616275 C>G,T), RS1000304893 (5:677060 C>A,T), RS1000323680 (5:626056 G>A,C,T), RS1000436830 (5:641179 G>C), RS1000456376 (5:643554 G>A,C)

Disease associations

OMIM: gene MIM:616475 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST000624_20	Ulcerative colitis	1.000000e-09
GCST001762_518	Obesity-related traits	1.000000e-06
GCST002792_1	Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia	6.000000e-09
GCST003143_24	Lung disease severity in cystic fibrosis	8.000000e-10
GCST003143_25	Lung disease severity in cystic fibrosis	1.000000e-11
GCST003143_26	Lung disease severity in cystic fibrosis	9.000000e-07
GCST003143_27	Lung disease severity in cystic fibrosis	2.000000e-06
GCST003143_28	Lung disease severity in cystic fibrosis	4.000000e-09
GCST003143_29	Lung disease severity in cystic fibrosis	7.000000e-12
GCST003739_4	Esophageal adenocarcinoma	2.000000e-08
GCST003740_9	Barrett’s esophagus or Esophageal adenocarcinoma	3.000000e-09
GCST004133_71	Ulcerative colitis	2.000000e-07
GCST011461_10	Barrett’s esophagus or Esophageal adenocarcinoma	7.000000e-08
GCST011461_12	Barrett’s esophagus or Esophageal adenocarcinoma	1.000000e-06
GCST011461_9	Barrett’s esophagus or Esophageal adenocarcinoma	1.000000e-07
GCST011462_6	Barrett’s esophagus or esophageal adenocarcinoma x sex interaction (2df test)	4.000000e-09
GCST011462_7	Barrett’s esophagus or esophageal adenocarcinoma x sex interaction (2df test)	4.000000e-09
GCST011462_9	Barrett’s esophagus or esophageal adenocarcinoma x sex interaction (2df test)	2.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007744	lung disease severity measurement
EFO:0008343	sex interaction measurement

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
rs924607	Toxicity	3	vincristine	Peripheral Nervous System Diseases

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs924607	CEP72	3	5.25	1	vincristine
rs12522955	CEP72		0.00	0
rs71585289	CEP72		0.00	0

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects expression, affects methylation	2
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
kojic acid	increases expression	1
manganese chloride	increases expression, increases abundance	1
coumarin	increases phosphorylation	1
CGP 52608	increases reaction, affects binding	1
abrine	increases expression	1
jinfukang	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Allergens	increases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Manganese	increases abundance, increases expression	1
Oxygen	decreases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Testosterone	affects cotreatment, decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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