ADAD1

adenosine deaminase domain containing 1, the group of Adenosine deaminases acting on RNA

Basic information

Region (hg38): 4:122378965-122429802

Links

ENSG00000164113 ∙ NCBI:132612 ∙ OMIM:614130 ∙ HGNC:30713 ∙ Uniprot:Q96M93 ∙ 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 ADAD1 gene.

• Inborn genetic diseases (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAD1 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in ADAD1

This is a list of pathogenic ClinVar variants found in the ADAD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-122380095-A-G		not specified	Uncertain significance (Sep 01, 2021)
4-122380158-C-A		not specified	Uncertain significance (Jul 14, 2021)
4-122380188-C-T		not specified	Uncertain significance (Jun 02, 2023)
4-122381094-G-A		not specified	Uncertain significance (May 24, 2023)
4-122381174-A-G		not specified	Uncertain significance (May 24, 2023)
4-122393592-C-G		not specified	Uncertain significance (Sep 20, 2023)
4-122396252-A-G		not specified	Uncertain significance (Dec 05, 2022)
4-122396278-A-G		not specified	Uncertain significance (Nov 27, 2023)
4-122396290-G-A		not specified	Uncertain significance (Jun 29, 2023)
4-122411269-T-C		not specified	Uncertain significance (Mar 02, 2023)
4-122411305-C-G		not specified	Uncertain significance (Apr 26, 2023)
4-122412614-G-A		not specified	Uncertain significance (Feb 10, 2023)
4-122412638-G-A		not specified	Uncertain significance (May 17, 2023)
4-122412768-G-A		not specified	Uncertain significance (Jan 17, 2023)
4-122415492-A-G		not specified	Uncertain significance (Aug 04, 2023)
4-122421295-C-T		not specified	Uncertain significance (Oct 10, 2023)
4-122421323-G-A		not specified	Uncertain significance (Jan 10, 2023)
4-122429672-A-G		not specified	Uncertain significance (Dec 16, 2023)
4-122429735-T-A		not specified	Uncertain significance (Sep 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAD1	protein_coding	protein_coding	ENST00000296513	11	50837

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0390	0.961	125705	0	41	125746	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.895	258	302	0.855	0.0000149	3753
Missense in Polyphen		63	101.68	0.61961		1325
Synonymous	0.900	92	104	0.888	0.00000509	1090
Loss of Function	3.53	8	28.3	0.283	0.00000134	372

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000892	0.000891
Ashkenazi Jewish	0.0000999	0.0000992
East Asian	0.0000621	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000107	0.000105
Middle Eastern	0.0000621	0.0000544
South Asian	0.0000395	0.0000327
Other	0.000374	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in spermatogenesis. Binds to RNA but not to DNA (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.124

Intolerance Scores

• loftool: 0.128
• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.32

Haploinsufficiency Scores

• pHI: 0.104
• hipred: Y
• hipred_score: 0.644
• ghis: 0.433

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.233

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adad1
• Phenotype: homeostasis/metabolism 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); reproductive system phenotype

Gene ontology

• Biological process: adenosine to inosine editing;RNA processing;multicellular organism development;spermatid development
• Cellular component: nucleus;nucleolus;cytoplasm
• Molecular function: double-stranded RNA binding;double-stranded RNA adenosine deaminase activity;tRNA-specific adenosine deaminase activity