ADAL

adenosine deaminase like, the group of Adenosine deaminase family

Basic information

Region (hg38): 15:43330672-43354569

Links

ENSG00000168803 ∙ NCBI:161823 ∙ OMIM:619346 ∙ HGNC:31853 ∙ Uniprot:Q6DHV7 ∙ 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 ADAL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAL 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					2	2
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	2

Variants in ADAL

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

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

Position	Type	Phenotype	Significance	ClinVar
15-43335723-A-G		not specified	Uncertain significance (Feb 05, 2024)
15-43336652-A-G		not specified	Uncertain significance (Jun 28, 2023)
15-43336660-A-C		not specified	Uncertain significance (Feb 16, 2023)
15-43336669-C-T		not specified	Uncertain significance (May 18, 2023)
15-43340280-A-G		not specified	Uncertain significance (Apr 18, 2023)
15-43340280-A-T		not specified	Uncertain significance (May 28, 2024)
15-43340326-G-A		not specified	Uncertain significance (Mar 30, 2024)
15-43343049-A-G			Benign (Jan 05, 2018)
15-43345870-G-T		not specified	Uncertain significance (Feb 15, 2023)
15-43345978-A-G		not specified	Uncertain significance (Oct 02, 2023)
15-43348971-G-T		not specified	Uncertain significance (Jan 23, 2024)
15-43348987-C-T			Benign (Jan 09, 2018)
15-43349000-T-A		not specified	Uncertain significance (Aug 23, 2021)
15-43349040-C-T		not specified	Uncertain significance (May 14, 2024)
15-43351812-C-T		not specified	Uncertain significance (Nov 17, 2022)
15-43351931-G-A		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAL	protein_coding	protein_coding	ENST00000428046	9	23225

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000163	0.664	125717	0	30	125747	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.18	124	167	0.744	0.00000779	2171
Missense in Polyphen		33	55.157	0.59829		761
Synonymous	0.224	58	60.2	0.963	0.00000318	599
Loss of Function	1.06	11	15.5	0.709	6.51e-7	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000506	0.000443
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000469	0.0000462
European (Non-Finnish)	0.0000990	0.0000967
Middle Eastern	0.000163	0.000163
South Asian	0.000221	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative nucleoside deaminase. May catalyze the hydrolytic deamination of adenosine or some similar substrate and play a role in purine metabolism (By similarity). {ECO:0000250}.
• Pathway: Metabolism of nucleotides;Abacavir metabolism;Abacavir transport and metabolism;Metabolism;Nucleotide salvage;Purine salvage (Consensus)

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.309
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.26

Haploinsufficiency Scores

• pHI: 0.0608
• hipred: N
• hipred_score: 0.251
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.551

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adal

Gene ontology

• Biological process: adenosine catabolic process;nucleotide metabolic process;drug metabolic process;purine-containing compound salvage;inosine biosynthetic process
• Cellular component: cytosol
• Molecular function: adenosine deaminase activity;metal ion binding