ANAPC15

anaphase promoting complex subunit 15, the group of Anaphase promoting complex

Basic information

Region (hg38): 11:72106378-72112780

Previous symbols: [ "C11orf51" ]

Links

ENSG00000110200 ∙ NCBI:25906 ∙ OMIM:614717 ∙ HGNC:24531 ∙ Uniprot:P60006 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANAPC15 gene.

• Autosomal recessive nonsyndromic hearing loss 63 (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANAPC15 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding	1	1	71	14	2	89
Total	1	1	73	15	2

Highest pathogenic variant AF is 0.00000657

Variants in ANAPC15

This is a list of pathogenic ClinVar variants found in the ANAPC15 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-72107872-G-A			Benign (Jul 10, 2018)
11-72107937-C-T		Autosomal recessive nonsyndromic hearing loss 63 • Inborn genetic diseases	Uncertain significance (Jul 19, 2023)
11-72107938-G-A			Uncertain significance (Sep 01, 2022)
11-72107944-T-C			Uncertain significance (Sep 29, 2023)
11-72107944-TGGA-T			Uncertain significance (Feb 03, 2022)
11-72107947-A-AGCTC		Autosomal recessive nonsyndromic hearing loss 63	Likely pathogenic (Feb 26, 2019)
11-72107961-G-A			Uncertain significance (Nov 10, 2023)
11-72107961-G-C		not specified • Autosomal recessive nonsyndromic hearing loss 63 • LRTOMT-related disorder	Conflicting classifications of pathogenicity (Dec 06, 2023)
11-72107962-C-A		Inborn genetic diseases	Uncertain significance (May 01, 2024)
11-72107963-T-G		LRTOMT-related disorder	Likely benign (Sep 06, 2019)
11-72108018-G-A			Uncertain significance (Aug 09, 2022)
11-72108023-G-A		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)
11-72108024-C-G		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Jan 13, 2018)
11-72108026-C-T			Likely benign (Apr 10, 2018)
11-72108027-C-G			Uncertain significance (Sep 08, 2022)
11-72108048-G-A		Inborn genetic diseases	Uncertain significance (Nov 27, 2023)
11-72108063-C-T		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Sep 08, 2021)
11-72108064-G-A		Inborn genetic diseases	Uncertain significance (Aug 16, 2022)
11-72108067-C-G			Uncertain significance (Apr 08, 2022)
11-72108067-C-T		Autosomal recessive nonsyndromic hearing loss 63 • LRTOMT-related disorder	Conflicting classifications of pathogenicity (Jan 17, 2023)
11-72108101-C-T		not specified	Likely benign (Nov 06, 2017)
11-72108102-G-A		Autosomal recessive nonsyndromic hearing loss 63	Uncertain significance (Aug 07, 2018)
11-72108106-T-C		Inborn genetic diseases	Uncertain significance (Jan 03, 2024)
11-72108117-A-G		Inborn genetic diseases	Uncertain significance (Jul 29, 2022)
11-72108241-G-A			Likely benign (Dec 31, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANAPC15	protein_coding	protein_coding	ENST00000227618	4	6403

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.296	0.686	125742	0	4	125746	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.22	39	67.2	0.581	0.00000361	830
Missense in Polyphen		6	13.619	0.44055		191
Synonymous	0.663	21	25.2	0.832	0.00000166	179
Loss of Function	1.99	2	8.12	0.246	4.15e-7	86

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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. 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. {ECO:0000269|PubMed:21926987}.
• Pathway: Senescence-Associated Secretory Phenotype (SASP);Cellular Senescence;Cellular responses to stress;Inactivation of APC/C via direct inhibition of the APC/C complex;Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;DNA Replication;Switching of origins to a post-replicative state;Synthesis of DNA;S Phase;Cellular responses to external stimuli;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Regulation of APC/C activators between G1/S and early anaphase;Phosphorylation of the APC/C;CDK-mediated phosphorylation and removal of Cdc6;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;APC-Cdc20 mediated degradation of Nek2A;APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint;APC/C:Cdc20 mediated degradation of Cyclin B;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdc20 mediated degradation of mitotic proteins;Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Autodegradation of Cdh1 by Cdh1:APC/C;APC/C-mediated degradation of cell cycle proteins;Regulation of mitotic cell cycle;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.43

Haploinsufficiency Scores

• pHI: 0.395
• hipred: Y
• hipred_score: 0.709
• ghis: 0.570

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Low	Medium
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Anapc15
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; homeostasis/metabolism phenotype; craniofacial phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: cell cycle;anaphase-promoting complex-dependent catabolic process;cell division;regulation of mitotic cell cycle spindle assembly checkpoint;regulation of mitotic cell cycle phase transition
• Cellular component: nucleoplasm;anaphase-promoting complex;cytosol