ATAD5

ATPase family AAA domain containing 5, the group of AAA ATPases

Basic information

Region (hg38): 17:30831965-30895869

Previous symbols: [ "C17orf41" ]

Links

ENSG00000176208 ∙ NCBI:79915 ∙ OMIM:609534 ∙ HGNC:25752 ∙ Uniprot:Q96QE3 ∙ 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 ATAD5 gene.

• Inborn genetic diseases (54 variants)
• not provided (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATAD5 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				5	4	9
missense			54	1		55
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2	2	4
non coding						0
Total	0	0	54	6	4

Variants in ATAD5

This is a list of pathogenic ClinVar variants found in the ATAD5 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-30832384-C-G		not specified	Uncertain significance (Dec 12, 2023)
17-30832386-G-C		ATAD5-related disorder	Benign (Oct 18, 2019)
17-30834170-A-T		not specified	Uncertain significance (Sep 29, 2022)
17-30834178-A-G		not specified	Uncertain significance (May 18, 2023)
17-30834184-A-T		ATAD5-related disorder	Benign (Oct 18, 2019)
17-30834235-A-C		ATAD5-related disorder	Likely benign (May 17, 2019)
17-30834251-C-G		not specified	Uncertain significance (Jul 14, 2023)
17-30834309-A-G		ATAD5-related disorder	Likely benign (Feb 19, 2019)
17-30834327-C-T			Likely benign (Jul 01, 2022)
17-30834340-C-T		ATAD5-related disorder	Benign (Oct 18, 2019)
17-30834458-T-C		not specified	Uncertain significance (Aug 28, 2023)
17-30834485-A-G		ATAD5-related disorder	Benign (Oct 21, 2019)
17-30834499-G-A		ATAD5-related disorder	Likely benign (Oct 02, 2020)
17-30834632-C-T		not specified	Uncertain significance (Jun 29, 2022)
17-30834680-A-C		not specified	Uncertain significance (Aug 12, 2021)
17-30834747-G-A		ATAD5-related disorder	Likely benign (Oct 28, 2019)
17-30834782-A-C		not specified	Uncertain significance (Apr 07, 2023)
17-30834798-G-A		not specified	Likely benign (Jan 23, 2024)
17-30834827-G-A		ATAD5-related disorder	Benign (Oct 18, 2019)
17-30834858-T-A		not specified	Uncertain significance (Jul 20, 2022)
17-30834972-C-T		ATAD5-related disorder	Benign (Feb 19, 2019)
17-30834973-G-A		ATAD5-related disorder	Likely benign (Sep 06, 2019)
17-30835023-C-T			Likely benign (Jul 20, 2018)
17-30835058-C-T		not specified	Uncertain significance (Jun 21, 2022)
17-30835070-C-A		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ATAD5	protein_coding	protein_coding	ENST00000321990	23	63900

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000282	125733	0	11	125744	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.89	725	883	0.821	0.0000425	12213
Missense in Polyphen		108	198.24	0.54479		2834
Synonymous	2.08	267	314	0.851	0.0000158	3339
Loss of Function	7.09	9	75.4	0.119	0.00000390	1111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000273	0.000268
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000370	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000371	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in DNA damage response. Involved in a RAD9A- related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages- induced apoptosis. {ECO:0000269|PubMed:15983387}.

Intolerance Scores

• loftool: 0.372
• rvis_EVS: -0.05
• rvis_percentile_EVS: 48.95

Haploinsufficiency Scores

• pHI: 0.368
• hipred: Y
• hipred_score: 0.704
• ghis: 0.592

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.590

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Atad5
• Phenotype: hematopoietic system 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); neoplasm; homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: positive regulation of B cell proliferation;nuclear DNA replication;B cell proliferation;signal transduction in response to DNA damage;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;isotype switching;positive regulation of DNA replication;positive regulation of isotype switching to IgG isotypes;nucleic acid phosphodiester bond hydrolysis;DNA clamp unloading;regulation of mitotic cell cycle phase transition;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;positive regulation of cell cycle G2/M phase transition
• Cellular component: nucleus;Elg1 RFC-like complex
• Molecular function: DNA binding;protein binding;ATP binding;DNA clamp unloader activity