CCP110

Summary

CCP110 (centriolar coiled-coil protein 110, HGNC:24342) is a protein-coding gene on chromosome 16p12.3, encoding Centriolar coiled-coil protein of 110 kDa (O43303). Necessary for centrosome duplication at different stages of procentriole formation. It is a selective cancer dependency (DepMap: 15.8% of cell lines).

Involved in centriole replication; negative regulation of cilium assembly; and regulation of cytokinesis. Located in centriole and centrosome. Part of protein-containing complex.

Source: NCBI Gene 9738 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Limited, GenCC)
• Clinical variants (ClinVar): 150 total — 2 likely-pathogenic
• Cancer dependency (DepMap): dependent in 15.8% of screened cell lines
• MANE Select transcript: NM_001323572

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24342
Approved symbol	CCP110
Name	centriolar coiled-coil protein 110
Location	16p12.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0419, CP110
Ensembl gene	ENSG00000103540
Ensembl biotype	protein_coding
OMIM	609544
Entrez	9738

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 12 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000381396, ENST00000396208, ENST00000396212, ENST00000561888, ENST00000562083, ENST00000562616, ENST00000565376, ENST00000566523, ENST00000567451, ENST00000569190, ENST00000573412, ENST00000694978, ENST00000901540, ENST00000901541, ENST00000901542, ENST00000925924, ENST00000925925, ENST00000925926

RefSeq mRNA: 8 — MANE Select: NM_001323572 NM_001199022, NM_001323569, NM_001323570, NM_001323571, NM_001323572, NM_001323576, NM_001323577, NM_014711

CCDS: CCDS10579, CCDS55992

Canonical transcript exons

ENST00000694978 — 14 exons

Exon	Start	End
ENSE00000675973	19541887	19542064
ENSE00000675974	19542621	19542760
ENSE00000675975	19542878	19542994
ENSE00000675977	19544797	19544898
ENSE00000675980	19545094	19545210
ENSE00000675982	19545817	19545890
ENSE00000675985	19546412	19546474
ENSE00000675987	19547955	19548014
ENSE00000829398	19535940	19537587
ENSE00000829399	19532416	19532544
ENSE00001292632	19527867	19528022
ENSE00001608741	19551196	19553408
ENSE00002639072	19523942	19524088
ENSE00003567834	19540657	19540787

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 95.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2140 / max 430.6084, expressed in 1605 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153019	6.9330	1504
153018	2.2811	976

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cranial nerve II	UBERON:0000941	95.65	gold quality
corpus callosum	UBERON:0002336	95.31	gold quality
globus pallidus	UBERON:0001875	94.88	gold quality
medial globus pallidus	UBERON:0002477	94.67	gold quality
lateral globus pallidus	UBERON:0002476	94.55	gold quality
buccal mucosa cell	CL:0002336	94.23	gold quality
bronchial epithelial cell	CL:0002328	93.96	gold quality
cortical plate	UBERON:0005343	93.95	gold quality
epithelium of bronchus	UBERON:0002031	93.77	gold quality
inferior vagus X ganglion	UBERON:0005363	93.71	gold quality
substantia nigra pars reticulata	UBERON:0001966	93.42	gold quality
bronchus	UBERON:0002185	93.21	gold quality
subthalamic nucleus	UBERON:0001906	92.70	gold quality
CA1 field of hippocampus	UBERON:0003881	92.48	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	92.44	gold quality
choroid plexus epithelium	UBERON:0003911	92.30	gold quality
inferior olivary complex	UBERON:0002127	92.05	gold quality
ganglionic eminence	UBERON:0004023	92.01	gold quality
substantia nigra pars compacta	UBERON:0001965	91.97	gold quality
substantia nigra	UBERON:0002038	91.67	gold quality
midbrain	UBERON:0001891	91.57	gold quality
medulla oblongata	UBERON:0001896	90.78	gold quality
Ammon’s horn	UBERON:0001954	90.66	gold quality
superior vestibular nucleus	UBERON:0007227	90.63	gold quality
ventricular zone	UBERON:0003053	90.60	gold quality
oocyte	CL:0000023	90.47	gold quality
secondary oocyte	CL:0000655	90.36	gold quality
primary visual cortex	UBERON:0002436	90.11	gold quality
orbitofrontal cortex	UBERON:0004167	89.98	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.88	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

167 targeting CCP110, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
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-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-548A-5P	99.94	71.27	3482

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 27)

• CP110, a cell cycle-dependent CDK substrate, regulates centrosome duplication (CP110) (PMID:12361598)
• These data demonstrate a functional role for CaM binding to CP110 and suggest that CP110 cooperates with CaM and centrin to regulate progression through cytokinesis. (PMID:16760425)
• CP110 suppresses a cilia assembly program. (PMID:17719545)
• The transition from centrioles to basal bodies is negatively regulated by CP11 protein. (PMID:17765674)
• These results suggest that CEP290 cooperates with Rab8a to promote ciliogenesis and that this function is antagonized by CP110. (PMID:18694559)
• Results suggest that CPAP and CP110 play antagonistic roles in determining the extent of tubulin addition during centriole elongation, thereby controlling the length of newly formed centrioles. (PMID:19481458)
• SCF(Cyclin F)-mediated degradation of CP110 is required for the fidelity of mitosis and genome integrity (PMID:20596027)
• Study found that loss of Kif24 leads to the disappearance of CP110 from mother centrioles in cycling cells able to form cilia; thus, identifying a centriolar kinesin that specifically remodels a subset of microtubules, thereby regulating cilia assembly. (PMID:21620453)
• Cp110 expression in mucosa from patients with chronic rhinosinusitis might contribute to the poor ciliation observed in these patients (PMID:21982113)
• Neurl4 counteracts accumulation of CP110, thereby maintaining normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centres (PMID:22441691)
• miR-129-3p controls cilia assembly by regulating CP110 and actin dynamics. (PMID:22684256)
• using human cells, identification of a new mechanism for the regulation of centrosome duplication that requires USP33, a deubiquitinating enzyme that is able to regulate CP110 levels (PMID:23486064)
• Both protein and mRNA levels of ciliogenesis-associated markers CP110, Foxj1, TAp73 were significantly increased in patients with nasal polyps versus those seen in control subjects and were positively correlated with cilia length (PMID:25201258)
• Centrin2 regulates primary ciliogenesis through controlling CP110 levels. (PMID:25753040)
• CP110 plays a mechanistic role in response of lung cancer cells to CDK2 inhibition, especially in the presence of activated KRAS mutations. (PMID:25808870)
• Data show thata combining cyclin-dependent kinase 2 (CDK2) antagonism and ubiquitin thioesterase 33 (USP33) depletion augments anaphase catastrophe via changes in centrosomal protein of 110 kDa (CP110) protein expression. (PMID:26304236)
• We demonstrated that restoration of CP110 expression in MDA-MB-231 and MCF-7 cells by miR-129 overexpression rendered the cells sensitive to docetaxel. (PMID:26487539)
• In tissues of prostate cancer patients, low CP110 and high miR-129-3p expression levels correlated with metastasi (PMID:26918338)
• This brief communication reports on a patient with an exceedingly rare “8p11 (eight-p-eleven) myeloproliferative syndrome” (EMS) with CEP110-FGFR1 rearrangement who responded to treatment with the multi-tyrosine kinase inhibitor (TKI) dasatinib (PMID:28242791)
• PLK4 specifically phosphorylates CP110 at the S98 position and is an essential step for centriole assembly. (PMID:28562169)
• Primary cilia biogenesis and associated retinal ciliopathies. (PMID:32747192)
• Myeloid/lymphoid neoplasm with CEP110-FGFR1 fusion: An analysis of 16 cases show common features and poor prognosis. (PMID:33491601)
• CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels. (PMID:34259627)
• LUBAC regulates ciliogenesis by promoting CP110 removal from the mother centriole. (PMID:34813648)
• EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole. (PMID:37074924)
• CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis. (PMID:37226238)
• Emerging insights into CP110 removal during early steps of ciliogenesis. (PMID:38415788)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cp110	ENSDARG00000101309
mus_musculus	Ccp110	ENSMUSG00000033904
rattus_norvegicus	Ccp110	ENSRNOG00000027405
drosophila_melanogaster	Cp110	FBGN0031191

Protein

Protein identifiers

Centriolar coiled-coil protein of 110 kDa — O43303 (reviewed: O43303)

Alternative names: Centrosomal protein of 110 kDa

All UniProt accessions (4): O43303, H3BMS1, H3BVH3, I3L262

UniProt curated annotations — full annotation on UniProt →

Function. Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation. Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation. Required for correct spindle formation and has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CETN2.

Subunit / interactions. Interacts with CALM1, CETN2, CEP76, CEP104, CEP290 and TALPID3. Interacts with CEP97. Seems to associate with discrete CETN2, CEP97 and CEP290-containing complexes. Interacts with NEURL4 and CCNF; these interactions are not mutually exclusive and both lead to CCP110 ubiquitination and proteasome-dependent degradation. Via its interaction with NEURL4, may indirectly interact with HERC2. Interacts with KIF24, leading to its recruitment to centrioles. Interacts with USP20 and USP33. Interacts with MPHOSPH9. Interacts (via N-terminal region) with ENKD1 (via central region); ENKD1 competes with CEP97 for binding to CCP110, destabilizing the interaction between CP110 and CEP97 which promotes the removal of CCP110 and CEP97 from the mother centriole and allows the initiation of ciliogenesis. Interacts with MYCBPAP.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body.

Tissue specificity. Highly expressed in testis. Detected at intermediate levels in spleen, thymus, prostate, small intestine, colon and peripheral blood leukocytes.

Post-translational modifications. Phosphorylated by CDKs. Ubiquitinated by the SCF(CCNF) during G2 phase, leading to its degradation by the proteasome and preventing centrosome reduplication. Deubiquitinated by USP33 in S and G2/M phase, leading to stabilize CCP110 during the period which centrioles duplicate and elongate. Ubiquitinated by the EDVP complex, leading to its degradation.

Induction. Up-regulated during the transition from G1 to S phase of the cell cycle. The highest levels are observed in S phase, after which the levels decrease markedly.

Isoforms (2)

UniProt ID	Names	Canonical?
O43303-1	1	yes
O43303-2	2

RefSeq proteins (8): NP_001185951, NP_001310498, NP_001310499, NP_001310500, NP_001310501, NP_001310505, NP_001310506, NP_055526 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033207	CCP110	Family

Pfam: PF16025

UniProt features (29 total): region of interest 8, modified residue 6, sequence variant 5, mutagenesis site 3, coiled-coil region 2, compositionally biased region 2, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43303-F1	55.11	0.18

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 (6): 170, 194, 366, 372, 400, 551

Mutagenesis-validated functional residues (3):

Position	Phenotype
170	loss of centrosome clustering and protection from anaphase catastrophe upon cdk2 inhibition in lung cancer cells.
194	loss of centrosome clustering and protection from anaphase catastrophe upon cdk2 inhibition in lung cancer cells.
586–588	abolishes interaction with ccnf.

Function

Pathways and Gene Ontology

Reactome pathways

9 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-5689880	Ub-specific processing proteases
R-HSA-8854518	AURKA Activation by TPX2
R-HSA-9013424	RHOV GTPase cycle

MSigDB gene sets: 221 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_CENTRIOLE_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CYTOKINESIS, GOBP_CILIUM_ORGANIZATION, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME

GO Biological Process (7): centriole replication (GO:0007099), ciliary basal body organization (GO:0032053), regulation of cytokinesis (GO:0032465), positive regulation of cilium assembly (GO:0045724), centrosome duplication (GO:0051298), negative regulation of cilium assembly (GO:1902018), cell projection organization (GO:0030030)

GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)

GO Cellular Component (9): centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), protein-containing complex (GO:0032991), cytoplasm (GO:0005737), microtubule organizing center (GO:0005815), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
G2/M Transition	2
Centrosome maturation	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1
Deubiquitination	1
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cell cycle process	2
cilium assembly	2
regulation of cilium assembly	2
microtubule organizing center	2
intracellular membraneless organelle	2
centrosome duplication	1
centriole assembly	1
microtubule organizing center organization	1
cilium organization	1
cytokinesis	1
regulation of cell cycle process	1
regulation of cell division	1
positive regulation of plasma membrane bounded cell projection assembly	1
positive regulation of organelle assembly	1
centrosome cycle	1
negative regulation of plasma membrane bounded cell projection assembly	1
negative regulation of organelle assembly	1
cellular component organization	1
tubulin binding	1
binding	1
centriole	1
cytoplasm	1
cellular_component	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

2238 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCP110	CEP97	Q8IW35	996
CCP110	CEP290	O15078	986
CCP110	PLK4	O00444	962
CCP110	CPAP	Q9HC77	962
CCP110	CEP135	Q66GS9	954
CCP110	SASS6	Q6UVJ0	954
CCP110	RAB8A	P24407	944
CCP110	CCNF	P41002	928
CCP110	KIF24	Q5T7B8	886
CCP110	CNTLN	Q9NXG0	878
CCP110	CEP152	O94986	842
CCP110	CEP104	O60308	840
CCP110	CETN2	P41208	820
CCP110	KIAA0586	Q9BVV6	812
CCP110	CEP164	Q9UPV0	798

IntAct

230 interactions, top by confidence:

A	B	Type	Score
CEP97	CCP110	psi-mi:“MI:2364”(proximity)	0.950
CEP97	CCP110	psi-mi:“MI:0914”(association)	0.950
CCP110	CEP97	psi-mi:“MI:0915”(physical association)	0.950
CEP97	CCP110	psi-mi:“MI:0407”(direct interaction)	0.950
CEP97	CCP110	psi-mi:“MI:0915”(physical association)	0.950
CCP110	CALM1	psi-mi:“MI:0915”(physical association)	0.900
CCP110	CALM1	psi-mi:“MI:0914”(association)	0.900
CALM1	CCP110	psi-mi:“MI:0915”(physical association)	0.900
CALM1	CCP110	psi-mi:“MI:0403”(colocalization)	0.900
CALM1	CCP110	psi-mi:“MI:0407”(direct interaction)	0.900
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
CCP110	CEP290	psi-mi:“MI:0915”(physical association)	0.890
CEP290	CCP110	psi-mi:“MI:0915”(physical association)	0.890
CCP110	CEP290	psi-mi:“MI:0914”(association)	0.890

BioGRID (251): CCP110 (Affinity Capture-RNA), CCP110 (Affinity Capture-RNA), CCP110 (Affinity Capture-MS), CCP110 (Affinity Capture-MS), CCP110 (Affinity Capture-MS), CCP110 (Proximity Label-MS), CCP110 (Proximity Label-MS), CCP110 (Proximity Label-MS), CCP110 (Affinity Capture-Western), CCP110 (Affinity Capture-MS), CCP110 (Affinity Capture-MS), CCP110 (Proximity Label-MS), CALM2 (Proximity Label-MS), CEP76 (Proximity Label-MS), CEP97 (Proximity Label-MS)

ESM2 similar proteins: A0A0G3VTN5, A0A0P0X9Z7, A0A0P0XBU0, A0A2K1L2D9, A7TUE1, A9XMT3, A9XMT4, B3H5A8, B8YIE8, C7IW64, F4IN78, F4IYH6, F4IZM8, F4J2J6, F4J7T2, F4J7T3, F4JIF5, F4KE59, O43303, O64827, O65680, P0CB21, P59278, P92973, Q0DIQ5, Q2LAE1, Q53HY2, Q5XPJ6, Q5XPJ9, Q657B3, Q657D6, Q689G6, Q6AT25, Q6R0H1, Q75K81, Q766Z3, Q84JZ8, Q84TI3, Q8GUN5, Q8L548

Diamond homologs: O43303, Q7TSH4

SIGNOR signaling

16 interactions.

A	Effect	B	Mechanism
CCP110	down-regulates	Centrosome_separation
CCP110	“up-regulates activity”	CALM1	binding
CCP110	“up-regulates activity”	CETN1	binding
CCP110	“up-regulates activity”	CETN2	binding
CCP110	“up-regulates activity”	CETN3	binding
CCP110	“up-regulates activity”	CALM2	binding
CCP110	“up-regulates activity”	CALM3	binding
CCNF	“down-regulates quantity by destabilization”	CCP110	ubiquitination
CDK2	“down-regulates activity”	CCP110	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 149 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	44.8×	8e-08
Activation of BAD and translocation to mitochondria	5	42.3×	2e-06
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	37.3×	4e-06
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	5	30.2×	9e-06
Transport of connexons to the plasma membrane	5	30.2×	9e-06
Activation of BH3-only proteins	5	27.6×	1e-05
Gap junction trafficking and regulation	5	26.4×	2e-05
Gap junction trafficking	5	26.4×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	5	29.5×	2e-04
substantia nigra development	6	17.7×	2e-04
regulation of cytokinesis	5	17.0×	8e-04
microtubule cytoskeleton organization	10	9.8×	3e-05
mitotic cell cycle	8	8.6×	4e-04
intracellular protein localization	9	7.6×	4e-04
cilium assembly	11	6.5×	2e-04
cell division	16	6.0×	9e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	123
Likely benign	8
Benign	9

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2681148	NM_001323572.2(CCP110):c.1129C>T (p.Arg377Ter)	Likely pathogenic
2681727	NM_001323572.2(CCP110):c.856_857del (p.Val286fs)	Likely pathogenic

SpliceAI

2421 predictions. Top by Δscore:

Variant	Effect	Δscore
16:19527862:TGTA:T	acceptor_loss	1.0000
16:19527863:GTA:G	acceptor_loss	1.0000
16:19527864:TAG:T	acceptor_loss	1.0000
16:19527865:A:AG	acceptor_gain	1.0000
16:19527865:AGTGT:A	acceptor_gain	1.0000
16:19527866:G:GG	acceptor_gain	1.0000
16:19527866:GT:G	acceptor_gain	1.0000
16:19527866:GTGT:G	acceptor_gain	1.0000
16:19527866:GTGTG:G	acceptor_gain	1.0000
16:19527969:TCTGA:T	donor_gain	1.0000
16:19527973:A:T	donor_gain	1.0000
16:19527999:G:GT	donor_gain	1.0000
16:19532412:GCA:G	acceptor_loss	1.0000
16:19532414:A:AG	acceptor_gain	1.0000
16:19532414:A:AT	acceptor_loss	1.0000
16:19532415:G:GA	acceptor_gain	1.0000
16:19532415:GC:G	acceptor_gain	1.0000
16:19532415:GCT:G	acceptor_gain	1.0000
16:19532415:GCTT:G	acceptor_gain	1.0000
16:19532415:GCTTA:G	acceptor_gain	1.0000
16:19532496:G:GT	donor_gain	1.0000
16:19532540:TTCAG:T	donor_loss	1.0000
16:19532541:TCAG:T	donor_loss	1.0000
16:19532543:AGGTG:A	donor_loss	1.0000
16:19532544:GGTG:G	donor_loss	1.0000
16:19532545:GT:G	donor_loss	1.0000
16:19532546:T:A	donor_loss	1.0000
16:19540651:TTTCA:T	acceptor_loss	1.0000
16:19540652:TTCA:T	acceptor_loss	1.0000
16:19540654:CA:C	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000045866 (16:19527046 T>A), RS1000081970 (16:19534510 G>A,C), RS1000175799 (16:19534285 C>T), RS1000241897 (16:19541391 G>A,C), RS1000446236 (16:19527156 T>C), RS1000481197 (16:19527409 A>C), RS1000481724 (16:19547666 C>G,T), RS1000520740 (16:19522057 G>A,C,T), RS1000625158 (16:19539586 T>C), RS1000682585 (16:19546587 C>T), RS1000688634 (16:19541300 ATAT>A), RS1000818370 (16:19546211 C>T), RS1001011082 (16:19548593 T>C,G), RS1001090514 (16:19528607 A>C,G), RS1001178467 (16:19535582 A>G,T)

Disease associations

OMIM: gene MIM:609544 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliopathy	Limited	Autosomal recessive

Mondo (2): breast ductal adenocarcinoma (MONDO:0005590), ciliopathy (MONDO:0005308)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	affects expression, decreases methylation, increases expression, increases methylation	4
perfluorooctane sulfonic acid	decreases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
beta-methylcholine	affects expression	1
pyrachlostrobin	increases expression	1
jinfukang	decreases expression	1
picoxystrobin	increases expression	1
NSC 689534	affects binding, decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Cadmium	increases abundance, increases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Cisplatin	increases expression	1
Copper	affects binding, decreases expression	1
Coumestrol	affects cotreatment, increases expression	1
Estradiol	affects expression	1
Ethyl Methanesulfonate	increases expression	1
Folic Acid	decreases expression	1
Formaldehyde	increases expression	1
Gasoline	increases abundance, increases expression, affects cotreatment	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2TQ	Abcam HEK293T CCP110 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00068224	Not specified	COMPLETED	Clinical and Molecular Investigations Into Ciliopathies
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery