ANAPC16

Summary

ANAPC16 (anaphase promoting complex subunit 16, HGNC:26976) is a protein-coding gene on chromosome 10q22.1, encoding Anaphase-promoting complex subunit 16 (Q96DE5). Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle.

Involved in anaphase-promoting complex-dependent catabolic process and protein polyubiquitination. Located in cytosol and kinetochore. Part of anaphase-promoting complex.

Source: NCBI Gene 119504 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_173473

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26976
Approved symbol	ANAPC16
Name	anaphase promoting complex subunit 16
Location	10q22.1
Locus type	gene with protein product
Status	Approved
Aliases	bA570G20.3, FLJ33728, APC16, CENP-27
Ensembl gene	ENSG00000166295
Ensembl biotype	protein_coding
OMIM	613427
Entrez	119504

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 32 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000299381, ENST00000470481, ENST00000478193, ENST00000615507, ENST00000621663, ENST00000902432, ENST00000902433, ENST00000902434, ENST00000902435, ENST00000902436, ENST00000902437, ENST00000902438, ENST00000902439, ENST00000902440, ENST00000902441, ENST00000902442, ENST00000902443, ENST00000902444, ENST00000902445, ENST00000902446, ENST00000914295, ENST00000914296, ENST00000914297, ENST00000914298, ENST00000914299, ENST00000914300, ENST00000914301, ENST00000957431, ENST00000957432, ENST00000957433, ENST00000957434, ENST00000957435, ENST00000957436, ENST00000957437

RefSeq mRNA: 5 — MANE Select: NM_173473 NM_001242546, NM_001242547, NM_001242548, NM_001366791, NM_173473

CCDS: CCDS7314, CCDS73147

Canonical transcript exons

ENST00000299381 — 4 exons

Exon	Start	End
ENSE00001101852	72216012	72216138
ENSE00001101854	72223888	72224056
ENSE00001900401	72233001	72235860
ENSE00003660439	72230366	72230440

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 99.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 71.9935 / max 459.3157, expressed in 1824 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
105481	71.7498	1824
205896	0.2437	84

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	99.63	gold quality
buccal mucosa cell	CL:0002336	99.61	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.54	gold quality
left ventricle myocardium	UBERON:0006566	99.54	gold quality
epithelial cell of pancreas	CL:0000083	99.42	gold quality
kidney epithelium	UBERON:0004819	99.21	gold quality
myocardium	UBERON:0002349	99.04	gold quality
quadriceps femoris	UBERON:0001377	99.00	gold quality
deltoid	UBERON:0001476	99.00	gold quality
vastus lateralis	UBERON:0001379	98.98	gold quality
palpebral conjunctiva	UBERON:0001812	98.98	gold quality
ileal mucosa	UBERON:0000331	98.96	gold quality
thymus	UBERON:0002370	98.89	gold quality
pancreatic ductal cell	CL:0002079	98.86	gold quality
body of pancreas	UBERON:0001150	98.83	gold quality
tibialis anterior	UBERON:0001385	98.80	gold quality
oviduct epithelium	UBERON:0004804	98.80	gold quality
seminal vesicle	UBERON:0000998	98.79	gold quality
bronchial epithelial cell	CL:0002328	98.76	gold quality
superficial temporal artery	UBERON:0001614	98.76	gold quality
bronchus	UBERON:0002185	98.73	gold quality
visceral pleura	UBERON:0002401	98.69	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.67	gold quality
eye	UBERON:0000970	98.65	gold quality
heart right ventricle	UBERON:0002080	98.65	gold quality
germinal epithelium of ovary	UBERON:0001304	98.63	gold quality
endothelial cell	CL:0000115	98.61	gold quality
skeletal muscle tissue	UBERON:0001134	98.61	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.60	gold quality
muscle tissue	UBERON:0002385	98.58	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-10042	yes	6.01
E-CURD-112	yes	5.82
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

115 targeting ANAPC16, 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-3613-3P	100.00	76.36	7965
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-126-5P	100.00	72.71	3180
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-4782-3P	99.88	73.31	735

Literature-anchored findings (GeneRIF, showing 3)

• The predicted protein encoded by MSAG contains 110 amino acids and has a theoretical molecular weight of 11667.04 and an isoelectric point of 4.91 (MSAG). (PMID:19232044)
• The structures show how one APC16 binds asymmetrically to the symmetric APC3 dimer and, together with biochemistry and prior data, explain how APC16 recruits APC7 to APC3. (PMID:25490258)
• the contribution of the anaphase-promoting complex/cyclosome subunits APC7 and APC16 to APC/C composition and function in human cells. (PMID:30485802)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	anapc16	ENSDARG00000013822
mus_musculus	Anapc16	ENSMUSG00000020107
rattus_norvegicus	Anapc16	ENSRNOG00000000576

Protein

Protein identifiers

Anaphase-promoting complex subunit 16 — Q96DE5 (reviewed: Q96DE5)

Alternative names: Cyclosome subunit 16

All UniProt accessions (3): A0A087WUN5, C5H3H2, Q96DE5

UniProt curated annotations — full annotation on UniProt →

Function. Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of ‘Lys-11’-linked polyubiquitin chains and, to a lower extent, the formation of ‘Lys-48’- and ‘Lys-63’-linked polyubiquitin chains. The APC/C complex catalyzes assembly of branched ‘Lys-11’-/‘Lys-48’-linked branched ubiquitin chains on target proteins.

Subunit / interactions. The mammalian APC/C is composed at least of 14 distinct subunits ANAPC1, ANAPC2, CDC27/APC3, ANAPC4, ANAPC5, CDC16/APC6, ANAPC7, CDC23/APC8, ANAPC10, ANAPC11, CDC26/APC12, ANAPC13, ANAPC15 and ANAPC16 that assemble into a complex of at least 19 chains with a combined molecular mass of around 1.2 MDa; APC/C interacts with FZR1 and FBXO5. ANAPC16 associates with the rest of the complex independently of ANAPC2 and ANAPC11.

Subcellular location. Cytoplasm. Nucleus. Chromosome. Centromere. Kinetochore.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the APC16 family.

RefSeq proteins (5): NP_001229475, NP_001229476, NP_001229477, NP_001353720, NP_775744* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029641	APC16	Family

Pfam: PF17256

UniProt features (10 total): helix 5, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

22 structures.

PDB	Method	Resolution (Å)
9GAW	ELECTRON MICROSCOPY	2.9
6Q6G	ELECTRON MICROSCOPY	3.2
6Q6H	ELECTRON MICROSCOPY	3.2
8PKP	ELECTRON MICROSCOPY	3.2
4RG9	X-RAY DIFFRACTION	3.25
4RG6	X-RAY DIFFRACTION	3.3
5G05	ELECTRON MICROSCOPY	3.4
8TAU	ELECTRON MICROSCOPY	3.5
4UI9	ELECTRON MICROSCOPY	3.6
6TNT	ELECTRON MICROSCOPY	3.78
6TLJ	ELECTRON MICROSCOPY	3.8
5G04	ELECTRON MICROSCOPY	3.9
6TM5	ELECTRON MICROSCOPY	3.9
9N9R	ELECTRON MICROSCOPY	3.9
9N9S	ELECTRON MICROSCOPY	3.9
8TAR	ELECTRON MICROSCOPY	4
5LCW	ELECTRON MICROSCOPY	4.2
5A31	ELECTRON MICROSCOPY	4.3
5KHU	ELECTRON MICROSCOPY	4.8
5KHR	ELECTRON MICROSCOPY	6.1
5L9T	ELECTRON MICROSCOPY	6.4
5L9U	ELECTRON MICROSCOPY	6.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96DE5-F1	73.29	0.37

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 (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

43 pathways

ID	Pathway
R-HSA-141430	Inactivation of APC/C via direct inhibition of the APC/C complex
R-HSA-174048	APC/C:Cdc20 mediated degradation of Cyclin B
R-HSA-174084	Autodegradation of Cdh1 by Cdh1:APC/C
R-HSA-174154	APC/C:Cdc20 mediated degradation of Securin
R-HSA-174178	APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
R-HSA-174184	Cdc20:Phospho-APC/C mediated degradation of Cyclin A
R-HSA-176407	Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
R-HSA-176408	Regulation of APC/C activators between G1/S and early anaphase
R-HSA-176409	APC/C:Cdc20 mediated degradation of mitotic proteins
R-HSA-176412	Phosphorylation of the APC/C
R-HSA-179409	APC-Cdc20 mediated degradation of Nek2A
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2559582	Senescence-Associated Secretory Phenotype (SASP)
R-HSA-68867	Assembly of the pre-replicative complex
R-HSA-69017	CDK-mediated phosphorylation and removal of Cdc6
R-HSA-8853884	Transcriptional Regulation by VENTX
R-HSA-9687136	Aberrant regulation of mitotic exit in cancer due to RB1 defects
R-HSA-141405	Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components
R-HSA-1640170	Cell Cycle
R-HSA-1643685	Disease
R-HSA-174143	APC/C-mediated degradation of cell cycle proteins
R-HSA-176814	Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins
R-HSA-179419	APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint
R-HSA-212436	Generic Transcription Pathway
R-HSA-2262752	Cellular responses to stress
R-HSA-2555396	Mitotic Metaphase and Anaphase
R-HSA-2559583	Cellular Senescence
R-HSA-453276	Regulation of mitotic cell cycle
R-HSA-68882	Mitotic Anaphase
R-HSA-68886	M Phase

MSigDB gene sets: 222 (showing top): REACTOME_DNA_REPLICATION, REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1, REACTOME_APC_C_CDC20_MEDIATED_DEGRADATION_OF_CYCLIN_B, REACTOME_CONVERSION_FROM_APC_C_CDC20_TO_APC_C_CDH1_IN_LATE_ANAPHASE, REACTOME_PHOSPHORYLATION_OF_THE_APC_C, GOBP_ANAPHASE_PROMOTING_COMPLEX_DEPENDENT_CATABOLIC_PROCESS, REACTOME_APC_CDC20_MEDIATED_DEGRADATION_OF_NEK2A, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_MEIOTIC_CELL_CYCLE, GOBP_PROTEIN_K11_LINKED_UBIQUITINATION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_MITOTIC_CELL_CYCLE

GO Biological Process (8): regulation of mitotic cell cycle (GO:0007346), protein ubiquitination (GO:0016567), anaphase-promoting complex-dependent catabolic process (GO:0031145), cell division (GO:0051301), regulation of meiotic cell cycle (GO:0051445), protein K48-linked ubiquitination (GO:0070936), protein K11-linked ubiquitination (GO:0070979), protein branched polyubiquitination (GO:0141198)

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

GO Cellular Component (8): kinetochore (GO:0000776), nucleoplasm (GO:0005654), anaphase-promoting complex (GO:0005680), cytosol (GO:0005829), chromosome, centromeric region (GO:0000775), nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
APC/C-mediated degradation of cell cycle proteins	4
APC/C:Cdc20 mediated degradation of mitotic proteins	2
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint	2
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins	2
Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components	1
Mitotic Anaphase	1
Cellular Senescence	1
DNA Replication Pre-Initiation	1
Switching of origins to a post-replicative state	1
Generic Transcription Pathway	1
Aberrant regulation of mitotic cell cycle due to RB1 defects	1
Regulation of APC/C activators between G1/S and early anaphase	1
Mitotic Spindle Checkpoint	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein polyubiquitination	3
cellular anatomical structure	3
regulation of cell cycle	2
intracellular membraneless organelle	2
mitotic cell cycle	1
protein modification by small protein conjugation	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
cellular process	1
meiotic cell cycle	1
regulation of reproductive process	1
binding	1
condensed chromosome, centromeric region	1
supramolecular complex	1
nuclear lumen	1
nuclear ubiquitin ligase complex	1
cullin-RING ubiquitin ligase complex	1
cytoplasm	1
chromosomal region	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

914 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANAPC16	CDC16	Q13042	960
ANAPC16	ANAPC13	Q9BS18	944
ANAPC16	ANAPC15	P60006	910
ANAPC16	CDC26	Q8NHZ8	906
ANAPC16	CDC27	P30260	871
ANAPC16	ANAPC10	Q9UM13	865
ANAPC16	ANAPC5	Q9UJX4	850
ANAPC16	ANAPC11	Q9NYG5	842
ANAPC16	CDC23	Q9UJX2	805
ANAPC16	ANAPC7	Q9UJX3	670
ANAPC16	CDC20	Q12834	639
ANAPC16	CYB5D2	Q8WUJ1	561
ANAPC16	ANAPC1	Q9H1A4	522
ANAPC16	CCNB1	P14635	498
ANAPC16	MAPK1IP1L	Q8NDC0	477

IntAct

100 interactions, top by confidence:

A	B	Type	Score
CDC20	BUB1B	psi-mi:“MI:0914”(association)	0.980
ANAPC2	CDC27	psi-mi:“MI:0915”(physical association)	0.910
ANAPC4	CDC27	psi-mi:“MI:0914”(association)	0.860
CDC27	CDC16	psi-mi:“MI:0914”(association)	0.860
MED17	MED19	psi-mi:“MI:0914”(association)	0.840
GRAP2	STAMBP	psi-mi:“MI:0914”(association)	0.810
CDC16	BUB1B	psi-mi:“MI:0914”(association)	0.790
CDC23	BUB1B	psi-mi:“MI:0914”(association)	0.790
ANAPC16	CDC27	psi-mi:“MI:0914”(association)	0.760
CDC27	ANAPC16	psi-mi:“MI:0914”(association)	0.760
ANAPC16	BUB1B	psi-mi:“MI:0914”(association)	0.730
ANAPC2	BUB1B	psi-mi:“MI:0914”(association)	0.730
ANAPC10	CDC16	psi-mi:“MI:0915”(physical association)	0.710
C16orf87	CDC27	psi-mi:“MI:0914”(association)	0.640
ANAPC13	CDC27	psi-mi:“MI:0914”(association)	0.640
CDC26	BUB1B	psi-mi:“MI:0914”(association)	0.640
TTLL1	CDC27	psi-mi:“MI:0914”(association)	0.640

BioGRID (157): ANAPC16 (Affinity Capture-MS), ANAPC16 (Affinity Capture-MS), ANAPC16 (Affinity Capture-MS), ANAPC16 (Affinity Capture-MS), ANAPC16 (Affinity Capture-MS), ANAPC16 (Co-purification), ANAPC16 (Affinity Capture-Western), ANAPC16 (Affinity Capture-Western), ANAPC16 (Co-crystal Structure), ANAPC16 (Affinity Capture-Western), ANAPC7 (Affinity Capture-Western), CDC27 (Affinity Capture-Western), ANAPC16 (Co-purification), ANAPC16 (Co-fractionation), ANAPC16 (Co-fractionation)

ESM2 similar proteins: A1DL98, A1XIQ0, A2AVJ0, A4UHQ4, F1QGC8, O36381, O74982, O76616, O88738, P02890, P02891, P02892, P06435, P0CZ24, P16420, P32774, P35259, P49408, P68969, Q0GBX8, Q14BA6, Q1KN21, Q1T763, Q1X6Y6, Q1X709, Q1X711, Q20A00, Q2GKJ2, Q3E744, Q3TDK6, Q58DR0, Q5PQ44, Q5REH8, Q5VYS4, Q5XX03, Q5ZK14, Q66T64, Q6WB97, Q6X1D3, Q6X1D7

Diamond homologs: Q58DR0, Q5REH8, Q6DJQ9, Q6GQ63, Q96DE5, Q9CPV2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 76 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
Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components	14	177.6×	1e-28
Inactivation of APC/C via direct inhibition of the APC/C complex	14	145.3×	3e-27
APC-Cdc20 mediated degradation of Nek2A	15	126.9×	7e-28
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint	15	126.9×	7e-28
Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase	12	124.6×	2e-22
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins	15	122.4×	1e-27
Aberrant regulation of mitotic exit in cancer due to RB1 defects	11	114.2×	5e-20
Phosphorylation of the APC/C	10	108.8×	5e-18

GO biological processes:

GO term	Partners	Fold	FDR
regulation of meiotic cell cycle	13	166.0×	7e-25
protein branched polyubiquitination	11	154.5×	9e-21
anaphase-promoting complex-dependent catabolic process	13	152.1×	2e-24
protein K11-linked ubiquitination	12	78.4×	2e-18
mitotic spindle assembly checkpoint signaling	6	56.2×	4e-08
regulation of mitotic cell cycle	13	52.2×	1e-17
protein K48-linked ubiquitination	11	30.9×	3e-12
cell division	20	15.4×	4e-17

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

642 predictions. Top by Δscore:

Variant	Effect	Δscore
10:72215934:T:TA	donor_gain	1.0000
10:72215961:C:A	donor_gain	1.0000
10:72223886:A:AG	acceptor_gain	1.0000
10:72223887:G:GG	acceptor_gain	1.0000
10:72223887:GTGAA:G	acceptor_gain	1.0000
10:72230360:TTGTA:T	acceptor_loss	1.0000
10:72230361:TGTA:T	acceptor_loss	1.0000
10:72230362:GTA:G	acceptor_loss	1.0000
10:72230363:TA:T	acceptor_loss	1.0000
10:72230364:A:AC	acceptor_loss	1.0000
10:72230364:A:AG	acceptor_gain	1.0000
10:72230364:AGAT:A	acceptor_gain	1.0000
10:72230365:G:GG	acceptor_gain	1.0000
10:72230365:G:T	acceptor_loss	1.0000
10:72230365:GAT:G	acceptor_gain	1.0000
10:72230365:GATG:G	acceptor_gain	1.0000
10:72232999:A:AG	acceptor_gain	1.0000
10:72233000:G:GA	acceptor_gain	1.0000
10:72215960:C:CA	donor_gain	0.9900
10:72215964:T:TA	donor_gain	0.9900
10:72223887:GT:G	acceptor_gain	0.9900
10:72224011:A:T	donor_gain	0.9900
10:72230364:AGATG:A	acceptor_gain	0.9900
10:72230365:GATGG:G	acceptor_gain	0.9900
10:72230441:G:GG	donor_gain	0.9900
10:72230442:T:A	donor_loss	0.9900
10:72230443:AA:A	donor_loss	0.9900
10:72232988:T:TA	acceptor_gain	0.9900
10:72232996:TACA:T	acceptor_loss	0.9900
10:72232998:CA:C	acceptor_loss	0.9900

AlphaMissense

689 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:72233063:T:A	W94R	0.999
10:72233063:T:C	W94R	0.999
10:72233065:G:C	W94C	0.998
10:72233065:G:T	W94C	0.998
10:72230398:T:C	F59L	0.997
10:72230399:T:C	F59S	0.997
10:72230400:T:A	F59L	0.997
10:72230400:T:G	F59L	0.997
10:72233088:T:C	L102P	0.996
10:72233079:T:A	I99N	0.995
10:72230396:T:A	V58D	0.994
10:72230423:T:C	L67P	0.994
10:72233028:T:C	L82P	0.994
10:72233049:T:C	L89P	0.994
10:72230401:A:C	S60R	0.993
10:72230403:C:A	S60R	0.993
10:72230403:C:G	S60R	0.993
10:72233064:G:C	W94S	0.993
10:72230413:G:C	A64P	0.992
10:72233030:G:C	A83P	0.991
10:72233096:T:C	F105L	0.991
10:72233098:C:A	F105L	0.991
10:72233098:C:G	F105L	0.991
10:72230381:T:C	F53S	0.990
10:72230392:T:C	S57P	0.990
10:72233093:G:A	G104R	0.990
10:72233093:G:C	G104R	0.990
10:72233016:G:C	R78P	0.989
10:72233028:T:A	L82Q	0.989
10:72230380:T:C	F53L	0.988

dbSNP variants (sampled 300 via entrez): RS1000040012 (10:72214339 T>C), RS1000266167 (10:72220050 C>A,T), RS1000437428 (10:72225755 A>C), RS1000556282 (10:72225474 T>G), RS1000652744 (10:72231961 C>T), RS1000753386 (10:72216883 C>T), RS1001153819 (10:72215580 C>T), RS1001303822 (10:72222446 A>G), RS1001412502 (10:72223317 C>T), RS1001462255 (10:72228770 G>C), RS1001494323 (10:72215694 G>A), RS1001521739 (10:72234767 C>T), RS1001860275 (10:72233544 A>C), RS1001991121 (10:72232086 T>A), RS1002105748 (10:72232411 G>A,C)

Disease associations

OMIM: gene MIM:613427 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008839_155	Height	8.000000e-14
GCST010002_290	Refractive error	2.000000e-17

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	decreases expression, affects expression, affects cotreatment	7
dicrotophos	decreases expression	1
bisphenol A	decreases methylation, affects cotreatment, increases methylation	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Arsenic	increases methylation	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, increases expression	1
Doxorubicin	decreases expression	1
Drugs, Chinese Herbal	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	decreases expression	1
Formaldehyde	increases expression	1
Naphthoquinones	increases expression	1
Tunicamycin	increases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	increases expression, increases abundance	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1QD	HAP1 ANAPC16 (-) 2	Cancer cell line	Male
CVCL_XL32	HAP1 ANAPC16 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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