ADSS2

adenylosuccinate synthase 2

Basic information

Region (hg38): 1:244408493-244451909

Previous symbols: [ "ADSS" ]

Links

ENSG00000035687 ∙ NCBI:159 ∙ OMIM:103060 ∙ HGNC:292 ∙ Uniprot:P30520 ∙ 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 ADSS2 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADSS2 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in ADSS2

This is a list of pathogenic ClinVar variants found in the ADSS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-244411376-G-A		not specified	Uncertain significance (Aug 22, 2023)
1-244411378-G-T		not specified	Uncertain significance (Dec 13, 2022)
1-244411414-T-G		not specified	Uncertain significance (Sep 23, 2023)
1-244416022-A-C		not specified	Uncertain significance (Feb 27, 2024)
1-244416040-G-A		not specified	Uncertain significance (Apr 07, 2023)
1-244417653-C-T		not specified	Uncertain significance (Nov 29, 2023)
1-244418795-C-T		not specified	Uncertain significance (Aug 21, 2023)
1-244418852-T-C		not specified	Uncertain significance (Nov 07, 2023)
1-244420253-T-A		not specified	Uncertain significance (Aug 28, 2023)
1-244420280-A-C		not specified	Uncertain significance (Jun 27, 2022)
1-244424348-T-C		not specified	Uncertain significance (Aug 09, 2021)
1-244437677-G-A		not specified	Uncertain significance (Jul 05, 2023)
1-244437682-A-T		not specified	Uncertain significance (Jul 05, 2023)
1-244437718-A-C		not specified	Uncertain significance (Apr 08, 2022)
1-244451659-G-T		not specified	Uncertain significance (Jul 25, 2023)
1-244451673-G-C		not specified	Uncertain significance (Nov 29, 2021)
1-244451769-C-T		not specified	Uncertain significance (Dec 15, 2022)
1-244451772-C-A		not specified	Uncertain significance (Feb 23, 2023)
1-244451799-A-C		not specified	Uncertain significance (Jul 13, 2022)
1-244451805-C-T		not specified	Likely benign (Feb 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADSS2	protein_coding	protein_coding	ENST00000366535	13	43641

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.330	0.670	125724	0	7	125731	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.22	140	236	0.593	0.0000109	2950
Missense in Polyphen		34	98.438	0.34539		1239
Synonymous	0.668	77	84.8	0.908	0.00000417	869
Loss of Function	3.65	6	26.1	0.230	0.00000127	323

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000894	0.0000894
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.
• Pathway: Alanine, aspartate and glutamate metabolism - Homo sapiens (human);Purine metabolism - Homo sapiens (human);Purine Nucleoside Phosphorylase Deficiency;Mercaptopurine Action Pathway;Azathioprine Action Pathway;Xanthine Dehydrogenase Deficiency (Xanthinuria);Adenylosuccinate Lyase Deficiency;AICA-Ribosiduria;Thioguanine Action Pathway;Adenine phosphoribosyltransferase deficiency (APRT);Mitochondrial DNA depletion syndrome;Myoadenylate deaminase deficiency;Purine Metabolism;Molybdenum Cofactor Deficiency;Adenosine Deaminase Deficiency;Gout or Kelley-Seegmiller Syndrome;Lesch-Nyhan Syndrome (LNS);Xanthinuria type I;Xanthinuria type II;Nucleotide Metabolism;nfat and hypertrophy of the heart ;adenosine ribonucleotides <i>de novo</i> biosynthesis;Metabolism of nucleotides;Alanine Aspartate Asparagine metabolism;Metabolism;Nucleobase biosynthesis;Purine nucleotides nucleosides metabolism;superpathway of purine nucleotide salvage;Purine ribonucleoside monophosphate biosynthesis;purine nucleotides <i>de novo</i> biosynthesis (Consensus)

Recessive Scores

• pRec: 0.348

Intolerance Scores

• loftool: 0.365
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.95

Haploinsufficiency Scores

• pHI: 0.715
• hipred: Y
• hipred_score: 0.708
• ghis: 0.591

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.955

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adss

Zebrafish Information Network

• Gene name: adssl
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: necrotic

Gene ontology

• Biological process: immune system process;AMP biosynthetic process;aspartate metabolic process;purine ribonucleoside monophosphate biosynthetic process;response to purine-containing compound;'de novo' AMP biosynthetic process;IMP metabolic process;response to ammonium ion;cellular response to electrical stimulus
• Cellular component: cytoplasm;cytosol;plasma membrane;extracellular exosome
• Molecular function: magnesium ion binding;adenylosuccinate synthase activity;protein binding;GTP binding;phosphate ion binding