ADAD2

adenosine deaminase domain containing 2, the group of Adenosine deaminases acting on RNA

Basic information

Region (hg38): 16:84191138-84197168

Links

ENSG00000140955 ∙ NCBI:161931 ∙ OMIM:619532 ∙ HGNC:30714 ∙ Uniprot:Q8NCV1 ∙ 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 ADAD2 gene.

• not_specified (157 variants)
• not_provided (2 variants)
• Non-obstructive_azoospermia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAD2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001145400.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			137	12		149
nonsense						0
start loss						0
frameshift	1					1
splice donor/acceptor (+/-2bp)						0
Total	1	0	137	13	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAD2	protein_coding	protein_coding	ENST00000268624	11	6031

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.39e-12	0.239	125624	0	103	125727	0.000410

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.36	553	417	1.32	0.0000277	4120
Missense in Polyphen		129	116.98	1.1028		1207
Synonymous	-5.47	288	192	1.50	0.0000134	1449
Loss of Function	0.978	21	26.4	0.795	0.00000120	298

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000777	0.000699
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.000224	0.000217
Finnish	0.000244	0.000231
European (Non-Finnish)	0.000494	0.000431
Middle Eastern	0.000224	0.000217
South Asian	0.00101	0.000948
Other	0.000185	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.114
• rvis_EVS: 0.14
• rvis_percentile_EVS: 63.65

Haploinsufficiency Scores

• pHI: 0.0618
• hipred: N
• hipred_score: 0.210
• ghis: 0.503

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.140

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adad2
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

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