ANAPC15

Summary

ANAPC15 (anaphase promoting complex subunit 15, HGNC:24531) is a protein-coding gene on chromosome 11q13.4, encoding Anaphase-promoting complex subunit 15 (P60006). 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. It is a selective cancer dependency (DepMap: 55.4% of cell lines).

Involved in anaphase-promoting complex-dependent catabolic process; protein polyubiquitination; and regulation of mitotic cell cycle spindle assembly checkpoint. Part of anaphase-promoting complex.

Source: NCBI Gene 25906 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 109 total — 3 pathogenic, 5 likely-pathogenic
• Cancer dependency (DepMap): dependent in 55.4% of screened cell lines
• MANE Select transcript: NM_014042

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24531
Approved symbol	ANAPC15
Name	anaphase promoting complex subunit 15
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Aliases	HSPC020, DKFZP564M082, APC15
Ensembl gene	ENSG00000110200
Ensembl biotype	protein_coding
OMIM	614717
Entrez	25906

Gene structure

Transcript identifiers

Ensembl transcripts: 65 — 63 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000227618, ENST00000438939, ENST00000502597, ENST00000535234, ENST00000535503, ENST00000537644, ENST00000538117, ENST00000538393, ENST00000538919, ENST00000539395, ENST00000542531, ENST00000543015, ENST00000543050, ENST00000543587, ENST00000545333, ENST00000545680, ENST00000545944, ENST00000864869, ENST00000864870, ENST00000864871, ENST00000864872, ENST00000864873, ENST00000864874, ENST00000864875, ENST00000864876, ENST00000864877, ENST00000864878, ENST00000864879, ENST00000864880, ENST00000864881, ENST00000864882, ENST00000864883, ENST00000864884, ENST00000864885, ENST00000864886, ENST00000864887, ENST00000864888, ENST00000864889, ENST00000864890, ENST00000864891, ENST00000864892, ENST00000939263, ENST00000939264, ENST00000939265, ENST00000939266, ENST00000939267, ENST00000939268, ENST00000939269, ENST00000939270, ENST00000939271, ENST00000939272, ENST00000939273, ENST00000939274, ENST00000939275, ENST00000939276, ENST00000939277, ENST00000939278, ENST00000939279, ENST00000939280, ENST00000939281, ENST00000939282, ENST00000939283, ENST00000953801, ENST00000953802, ENST00000953803

RefSeq mRNA: 45 — MANE Select: NM_014042 NM_001278485, NM_001278486, NM_001278487, NM_001278488, NM_001278489, NM_001278490, NM_001278491, NM_001278492, NM_001278493, NM_001278494, NM_001330321, NM_001393427, NM_001393428, NM_001393429, NM_001393430, NM_001393431, NM_001393432, NM_001393433, NM_001393434, NM_001393435, NM_001393436, NM_001393437, NM_001393438, NM_001393439, NM_001393440, NM_001393441, NM_001393442, NM_001393443, NM_001393444, NM_001393445, NM_001393446, NM_001393447, NM_001393448, NM_001393449, NM_001393450, NM_001393451, NM_001393452, NM_001393453, NM_001393454, NM_001393455, NM_001393456, NM_001393457, NM_001393458, NM_001393459, NM_014042

CCDS: CCDS60880, CCDS81593, CCDS8210, CCDS91530

Canonical transcript exons

ENST00000227618 — 6 exons

Exon	Start	End
ENSE00000797442	72111157	72111286
ENSE00001516250	72111412	72111496
ENSE00001516251	72112650	72112695
ENSE00003490317	72110088	72110225
ENSE00003555672	72109587	72109928
ENSE00003587852	72110544	72110603

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 97.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.4081 / max 908.5516, expressed in 1809 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
121150	11.8014	1793
121151	2.1371	1261
121149	1.4696	819

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	97.33	gold quality
right testis	UBERON:0004534	96.54	gold quality
left testis	UBERON:0004533	96.51	gold quality
mucosa of transverse colon	UBERON:0004991	96.24	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.88	gold quality
nucleus accumbens	UBERON:0001882	95.49	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.41	gold quality
lower esophagus	UBERON:0013473	95.40	gold quality
cingulate cortex	UBERON:0003027	95.39	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.37	gold quality
anterior cingulate cortex	UBERON:0009835	95.35	gold quality
right frontal lobe	UBERON:0002810	95.33	gold quality
putamen	UBERON:0001874	95.19	gold quality
monocyte	CL:0000576	95.10	gold quality
mononuclear cell	CL:0000842	95.04	gold quality
amygdala	UBERON:0001876	95.03	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.95	gold quality
leukocyte	CL:0000738	94.89	gold quality
caudate nucleus	UBERON:0001873	94.87	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.86	gold quality
testis	UBERON:0000473	94.69	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.64	gold quality
lower esophagus mucosa	UBERON:0035834	94.46	gold quality
transverse colon	UBERON:0001157	94.41	gold quality
ganglionic eminence	UBERON:0004023	94.41	gold quality
prefrontal cortex	UBERON:0000451	94.40	gold quality
right atrium auricular region	UBERON:0006631	94.39	gold quality
right lobe of thyroid gland	UBERON:0001119	94.18	gold quality
esophagus	UBERON:0001043	94.09	gold quality
granulocyte	CL:0000094	94.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	28.83
E-ANND-3	yes	7.76

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4

miRNA regulators (miRDB)

17 targeting ANAPC15, 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-6721-5P	99.93	68.92	2981
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-92A-1-5P	98.28	64.51	631
HSA-MIR-4450	98.26	68.35	725
HSA-MIR-6880-5P	98.08	65.59	1282
HSA-MIR-6728-5P	97.79	66.33	891
HSA-MIR-483-3P	97.77	64.95	731
HSA-MIR-6762-5P	96.55	64.62	972
HSA-MIR-6845-5P	96.55	64.65	969

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 55.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Anaphase promoting complex subunit 15(APC15) mediates the constant turnover of CDC20 and mitotic checkpoint protein complexes, allowing the spindle checkpoint assembly to respond to the attachment state of kinetochores. (PMID:21926987)
• APC15 is required for anaphase-promoting complex/cyclosome-bound mitotic checkpoint complex-dependent CDC20 autoubiquitylation and degradation and for timely anaphase initiation. (PMID:23007861)
• cryo-EM structure of an APC/C-Cdh1 complex with Apc1(WD40) deleted showed that the mutant APC/C is locked into an inactive conformation in which the UbcH10-binding site of the catalytic module is inaccessible. Additionally, an EM density for Apc15 is not visible (PMID:27601667)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	anapc15	ENSDARG00000101285
mus_musculus	Anapc15	ENSMUSG00000030649
rattus_norvegicus	Anapc15	ENSRNOG00000019936

Protein

Protein identifiers

Anaphase-promoting complex subunit 15 — P60006 (reviewed: P60006)

All UniProt accessions (8): P60006, F5GWM6, F5GXB9, F5H2T3, F5H3R3, F5H6E4, F8WDQ6, G5EA39

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 catalyzes assembly of branched ‘Lys-11’-/‘Lys-48’-linked branched ubiquitin chains on target proteins. In the complex, plays a role in the release of the mitotic checkpoint complex (MCC) from the APC/C: not required for APC/C activity itself, but promotes the turnover of CDC20 and MCC on the APC/C, thereby participating in the responsiveness of the spindle assembly checkpoint. Also required for degradation of CDC20.

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.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the APC15 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P60006-1	1	yes
P60006-2	2

RefSeq proteins (45): NP_001265414, NP_001265415, NP_001265416, NP_001265417, NP_001265418, NP_001265419, NP_001265420, NP_001265421, NP_001265422, NP_001265423, NP_001317250, NP_001380356, NP_001380357, NP_001380358, NP_001380359, NP_001380360, NP_001380361, NP_001380362, NP_001380363, NP_001380364, NP_001380365, NP_001380366, NP_001380367, NP_001380368, NP_001380369, NP_001380370, NP_001380371, NP_001380372, NP_001380373, NP_001380374, NP_001380375, NP_001380376, NP_001380377, NP_001380378, NP_001380379, NP_001380380, NP_001380381, NP_001380382, NP_001380383, NP_001380384, NP_001380385, NP_001380386, NP_001380387, NP_001380388, NP_054761* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026182	ANAPC15	Family

Pfam: PF15243

UniProt features (9 total): turn 2, chain 1, region of interest 1, compositionally biased region 1, splice variant 1, sequence conflict 1, helix 1, strand 1

Structure

Experimental structures (PDB)

18 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
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
5L9T	ELECTRON MICROSCOPY	6.4
5L9U	ELECTRON MICROSCOPY	6.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60006-F1	71.01	0.18

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: 240 (showing top): GOBP_CHROMOSOME_ORGANIZATION, REACTOME_DNA_REPLICATION, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, 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_REGULATION_OF_NUCLEAR_DIVISION, NKX25_02, GOBP_ANAPHASE_PROMOTING_COMPLEX_DEPENDENT_CATABOLIC_PROCESS, REACTOME_APC_CDC20_MEDIATED_DEGRADATION_OF_NEK2A, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CHROMOSOME_SEPARATION

GO Biological Process (8): regulation of mitotic cell cycle (GO:0007346), 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), regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266), protein branched polyubiquitination (GO:0141198)

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

GO Cellular Component (3): nucleoplasm (GO:0005654), anaphase-promoting complex (GO:0005680), cytosol (GO:0005829)

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
regulation of cell cycle	2
cellular anatomical structure	2
mitotic cell cycle	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
cellular process	1
meiotic cell cycle	1
regulation of reproductive process	1
regulation of mitotic nuclear division	1
mitotic spindle assembly checkpoint signaling	1
regulation of mitotic sister chromatid separation	1
regulation of mitotic metaphase/anaphase transition	1
regulation of mitotic sister chromatid segregation	1
regulation of mitotic spindle checkpoint	1
binding	1
nuclear lumen	1
nuclear ubiquitin ligase complex	1
cullin-RING ubiquitin ligase complex	1
cytoplasm	1

Protein interactions and networks

STRING

749 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANAPC15	ANAPC5	Q9UJX4	975
ANAPC15	ANAPC16	Q96DE5	910
ANAPC15	CDC23	Q9UJX2	879
ANAPC15	ANAPC13	Q9BS18	867
ANAPC15	ANAPC10	Q9UM13	856
ANAPC15	CDC26	Q8NHZ8	852
ANAPC15	ANAPC11	Q9NYG5	834
ANAPC15	CDC20	Q12834	744
ANAPC15	CDC16	Q13042	742
ANAPC15	BUB3	O43684	623
ANAPC15	UBE2C	O00762	616
ANAPC15	PTTG2	Q9NZH5	580
ANAPC15	CDC27	P30260	577
ANAPC15	BUB1B	O60566	560
ANAPC15	PTTG1	O95997	507

IntAct

17 interactions, top by confidence:

A	B	Type	Score
ANAPC2	CDC27	psi-mi:“MI:0915”(physical association)	0.910
ANAPC4	CDC27	psi-mi:“MI:0914”(association)	0.860
ANAPC15	CEP19	psi-mi:“MI:0915”(physical association)	0.560
ABL1	ANAPC15	psi-mi:“MI:0915”(physical association)	0.370
CDKN2A	ANAPC15	psi-mi:“MI:0915”(physical association)	0.370
ANAPC15		psi-mi:“MI:0914”(association)	0.350
ANAPC15	U2SURP	psi-mi:“MI:0914”(association)	0.350
	EBAG9	psi-mi:“MI:0914”(association)	0.350
CEP19	ANAPC15	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (171): ANAPC15 (Co-purification), ANAPC15 (Affinity Capture-Western), CDC20 (Affinity Capture-MS), CDC27 (Affinity Capture-MS), NEK2 (Affinity Capture-MS), PRDX1 (Affinity Capture-MS), RRM2 (Affinity Capture-MS), RTKN (Affinity Capture-MS), PRDX2 (Affinity Capture-MS), TK2 (Affinity Capture-MS), VBP1 (Affinity Capture-MS), CDC23 (Affinity Capture-MS), CDC16 (Affinity Capture-MS), USP6NL (Affinity Capture-MS), SORBS3 (Affinity Capture-MS)

ESM2 similar proteins: A8WSV7, A9JSB3, D3ZQX4, F1QY75, H9G301, O74515, O88828, O94688, O94733, P0CAM5, P0CAM6, P10962, P18888, P32447, P36595, P60006, P60007, P61217, P61218, P61219, Q17603, Q19326, Q1E0W9, Q1RML7, Q2UKV7, Q3B8E5, Q3SZ31, Q4WXX5, Q55DJ3, Q59MV1, Q5B3I9, Q5R592, Q66L33, Q6C233, Q6C818, Q6CA87, Q6CN69, Q6FJ55, Q6FL84, Q6IRQ9

Diamond homologs: A9JSB3, D3ZQX4, F1QY75, P60006, P60007, Q3B8E5, Q3SZ31, Q6IRQ9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	5
Uncertain significance	69
Likely benign	17
Benign	2

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
208717	NM_001145308.5(LRTOMT):c.614_617dup (p.Ser207fs)	Pathogenic
3601219	NM_001145308.5(LRTOMT):c.426T>A (p.Cys142Ter)	Pathogenic
3601221	NM_001145308.5(LRTOMT):c.555+2T>G	Pathogenic
1705515	NM_001145308.5(LRTOMT):c.566del (p.Ile189fs)	Likely pathogenic
3601220	NM_001145308.5(LRTOMT):c.476T>G (p.Leu159Arg)	Likely pathogenic
3601222	NM_001145308.5(LRTOMT):c.641T>C (p.Leu214Pro)	Likely pathogenic
3601223	NM_001145308.5(LRTOMT):c.849del (p.Gln284fs)	Likely pathogenic
627450	NM_001145308.5(LRTOMT):c.384_385insCTCG (p.Glu129fs)	Likely pathogenic

SpliceAI

1330 predictions. Top by Δscore:

Variant	Effect	Δscore
11:72108603:AGGT:A	acceptor_gain	1.0000
11:72108604:GGTG:G	acceptor_gain	1.0000
11:72110219:CATAG:C	acceptor_gain	1.0000
11:72110221:TAGTG:T	acceptor_gain	1.0000
11:72110222:AGTG:A	acceptor_gain	1.0000
11:72110223:GTG:G	acceptor_gain	1.0000
11:72110224:TG:T	acceptor_gain	1.0000
11:72110224:TGCT:T	acceptor_loss	1.0000
11:72110226:C:A	acceptor_loss	1.0000
11:72110226:C:CC	acceptor_gain	1.0000
11:72110227:T:A	acceptor_loss	1.0000
11:72110539:CTCA:C	donor_loss	1.0000
11:72110540:TCAC:T	donor_loss	1.0000
11:72110541:CACCT:C	donor_loss	1.0000
11:72110542:A:AC	donor_gain	1.0000
11:72110542:A:C	donor_loss	1.0000
11:72110543:C:CC	donor_gain	1.0000
11:72110543:CCT:C	donor_gain	1.0000
11:72112645:CTTA:C	donor_loss	1.0000
11:72112646:TTAC:T	donor_loss	1.0000
11:72112647:TA:T	donor_loss	1.0000
11:72112648:ACCGC:A	donor_loss	1.0000
11:72108599:CCACA:C	acceptor_loss	0.9900
11:72108600:CACA:C	acceptor_loss	0.9900
11:72108601:ACAGG:A	acceptor_loss	0.9900
11:72108602:CA:C	acceptor_loss	0.9900
11:72108603:A:AG	acceptor_gain	0.9900
11:72108603:AGGTG:A	acceptor_gain	0.9900
11:72108604:G:GC	acceptor_gain	0.9900
11:72108604:GGT:G	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000078308 (11:72114043 C>A,T), RS1000529849 (11:72113035 C>G,T), RS1001553660 (11:72113141 T>A), RS1001887222 (11:72114267 T>G), RS1002450250 (11:72114531 A>G), RS1002512370 (11:72114364 T>C), RS1002559469 (11:72112333 C>T), RS1003113213 (11:72112598 A>G), RS1003448651 (11:72113329 A>G,T), RS1003700981 (11:72108810 T>C,G), RS1004121307 (11:72111361 A>G), RS1004148840 (11:72110975 C>G), RS1004897813 (11:72110878 A>G), RS1004985587 (11:72114724 C>G), RS1005743858 (11:72113366 C>T)

Disease associations

OMIM: gene MIM:614717 | disease phenotypes: MIM:611451, MIM:616271

GenCC curated gene-disease

Mondo (2): autosomal recessive nonsyndromic hearing loss 63 (MONDO:0012670), 3-methylglutaconic aciduria, type VIIB (MONDO:0014561)

Orphanet (2): Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (Orphanet:445038)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566951	Deafness, Autosomal Recessive 63 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
cobaltous chloride	decreases expression	2
(+)-JQ1 compound	decreases expression	2
Valproic Acid	affects expression, decreases expression	2
Cyclosporine	decreases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
quercitrin	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases abundance, decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
phenethyl isothiocyanate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Diethylhexyl Phthalate	decreases methylation, increases abundance	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Selenium	increases expression	1
Tunicamycin	decreases expression	1
Vitamin E	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 1 telomerase immortalized cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_5F68	hTERT-RPE1 mRuby-APC15	Telomerase immortalized cell line	Female
CVCL_B2RL	Abcam HEK293T ANAPC15 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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