DDI1

DNA damage inducible 1 homolog 1, the group of Peptidase family A28

Basic information

Region (hg38): 11:104036639-104039196

Links

ENSG00000170967 ∙ NCBI:414301 ∙ ∙ HGNC:18961 ∙ Uniprot:Q8WTU0 ∙ 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 DDI1 gene.

• Inborn genetic diseases (27 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDI1 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					3	3
missense			26	1	1	28
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	4

Variants in DDI1

This is a list of pathogenic ClinVar variants found in the DDI1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-104036890-C-G		not specified	Uncertain significance (Nov 17, 2022)
11-104036945-C-T			Benign (Aug 05, 2018)
11-104036946-G-A		not specified	Uncertain significance (Feb 10, 2022)
11-104037001-C-T		not specified	Uncertain significance (Dec 20, 2021)
11-104037022-A-G		not specified	Uncertain significance (Jul 20, 2021)
11-104037033-A-G		not specified	Likely benign (Jun 22, 2021)
11-104037036-G-C		not specified	Uncertain significance (Mar 07, 2023)
11-104037073-C-T		not specified	Uncertain significance (Aug 14, 2023)
11-104037106-A-G		not specified	Uncertain significance (Feb 22, 2023)
11-104037121-C-T		not specified	Uncertain significance (Nov 08, 2022)
11-104037157-C-T		not specified	Uncertain significance (Oct 25, 2023)
11-104037159-G-A		not specified	Uncertain significance (Sep 07, 2022)
11-104037177-A-C		not specified	Uncertain significance (Dec 12, 2023)
11-104037180-C-T		not specified	Uncertain significance (Nov 03, 2022)
11-104037183-G-T		not specified	Likely benign (Jan 03, 2024)
11-104037216-G-A		not specified	Uncertain significance (Nov 08, 2022)
11-104037256-T-G		not specified	Uncertain significance (Feb 27, 2023)
11-104037281-C-A		not specified	Uncertain significance (Jul 14, 2023)
11-104037287-C-T			Benign (Jul 26, 2018)
11-104037315-C-A		not specified	Uncertain significance (Jul 11, 2022)
11-104037356-C-T			Benign (Aug 05, 2018)
11-104037388-A-G		not specified	Uncertain significance (Apr 12, 2022)
11-104037406-A-C		not specified	Uncertain significance (Jun 29, 2023)
11-104037424-A-C		not specified	Uncertain significance (Dec 13, 2023)
11-104037513-A-ATAGAAGAGGCCCCCGAGAGTTTT		Premature ovarian insufficiency	Uncertain significance (Jan 10, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDI1	protein_coding	protein_coding	ENST00000302259	1	2615

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.15e-9	0.0750	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0685	233	236	0.987	0.0000160	2576
Missense in Polyphen		56	61.248	0.91432		711
Synonymous	-1.20	112	97.0	1.15	0.00000692	818
Loss of Function	-0.150	13	12.4	1.05	9.10e-7	113

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable aspartic protease. {ECO:0000305|PubMed:21266539}.

Recessive Scores

• pRec: 0.0994

Intolerance Scores

• loftool: 0.677
• rvis_EVS: 0.78
• rvis_percentile_EVS: 87.14

Haploinsufficiency Scores

• pHI: 0.0390
• hipred: N
• hipred_score: 0.208
• ghis: 0.395

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.351

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ddi1

Gene ontology

• Biological process: proteolysis
• Molecular function: aspartic-type endopeptidase activity;protein binding;ubiquitin binding