DDIAS

DNA damage induced apoptosis suppressor

Basic information

Region (hg38): 11:82899975-82958277

Previous symbols: [ "C11orf82" ]

Links

ENSG00000165490 ∙ NCBI:220042 ∙ OMIM:618045 ∙ HGNC:26351 ∙ Uniprot:Q8IXT1 ∙ 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 DDIAS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDIAS 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						0
missense			34	7		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	7	0

Variants in DDIAS

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

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

Position	Type	Phenotype	Significance	ClinVar
11-82900246-A-T		not specified	Likely benign (Jun 25, 2024)
11-82900312-T-A		not specified	Uncertain significance (Aug 12, 2024)
11-82900345-T-C		not specified	Uncertain significance (Dec 15, 2022)
11-82900357-G-A		not specified	Uncertain significance (Feb 02, 2022)
11-82900387-G-A		not specified	Uncertain significance (Mar 23, 2022)
11-82914746-G-A		not specified	Uncertain significance (Dec 01, 2022)
11-82914827-C-G		not specified	Uncertain significance (Nov 18, 2022)
11-82914834-A-G		not specified	Uncertain significance (Dec 05, 2022)
11-82914841-G-A		not specified	Uncertain significance (Nov 20, 2023)
11-82928781-A-C		not specified	Uncertain significance (Aug 01, 2024)
11-82930166-G-T		not specified	Uncertain significance (Oct 19, 2024)
11-82930191-C-A		not specified	Uncertain significance (Aug 30, 2022)
11-82930197-A-G		not specified	Uncertain significance (Nov 06, 2023)
11-82930210-A-G		not specified	Uncertain significance (Jan 17, 2023)
11-82930222-C-G		not specified	Uncertain significance (Jul 14, 2022)
11-82931739-A-G		not specified	Uncertain significance (Feb 21, 2024)
11-82931776-C-A		not specified	Uncertain significance (Feb 05, 2024)
11-82931852-A-G		not specified	Likely benign (Jan 29, 2024)
11-82931906-T-A		not specified	Uncertain significance (Nov 09, 2023)
11-82931962-T-A		not specified	Likely benign (Feb 28, 2023)
11-82931975-G-C		not specified	Uncertain significance (Feb 23, 2023)
11-82931999-G-A		not specified	Uncertain significance (May 27, 2022)
11-82932071-T-C		not specified	Likely benign (Jan 07, 2022)
11-82932231-T-C		not specified	Uncertain significance (Jun 27, 2022)
11-82932276-A-G		not specified	Uncertain significance (Aug 27, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDIAS	protein_coding	protein_coding	ENST00000533655	4	58303

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.34e-9	0.971	125420	0	328	125748	0.00130

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.255	467	483	0.967	0.0000215	6604
Missense in Polyphen		70	79.219	0.88362		1212
Synonymous	1.68	147	175	0.838	0.00000805	1871
Loss of Function	2.16	19	32.3	0.589	0.00000154	464

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00167	0.00167
Ashkenazi Jewish	0.00	0.00
East Asian	0.00996	0.0100
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000607	0.000598
Middle Eastern	0.00996	0.0100
South Asian	0.000896	0.000882
Other	0.000821	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be an anti-apoptotic protein involved in DNA repair or cell survival. {ECO:0000269|PubMed:24214091}.

Recessive Scores

• pRec: 0.0746

Intolerance Scores

• rvis_EVS: 0.16
• rvis_percentile_EVS: 64.96

Haploinsufficiency Scores

• pHI: 0.566
• hipred: N
• hipred_score: 0.146
• ghis: 0.550

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ddias

Gene ontology

• Biological process: apoptotic process;cell cycle arrest;regulation of DNA stability;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
• Cellular component: cellular_component;nucleus;cytoplasm
• Molecular function: molecular_function