AASDH

aminoadipate-semialdehyde dehydrogenase, the group of Acyl-CoA synthetase family

Basic information

Region (hg38): 4:56338287-56387508

Links

ENSG00000157426 ∙ NCBI:132949 ∙ OMIM:614365 ∙ HGNC:23993 ∙ Uniprot:Q4L235 ∙ 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 AASDH gene.

• not_specified (120 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AASDH gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181806.4. 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				3		3
missense			113	7		120
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	113	10	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AASDH	protein_coding	protein_coding	ENST00000205214	14	49211

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.66e-13	0.985	125522	0	225	125747	0.000895

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.255	534	551	0.969	0.0000263	7139
Missense in Polyphen		144	171.57	0.83929		2031
Synonymous	0.913	188	205	0.919	0.0000103	2124
Loss of Function	2.50	28	46.4	0.604	0.00000227	645

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00236	0.00235
Ashkenazi Jewish	0.000301	0.000298
East Asian	0.000776	0.000761
Finnish	0.000232	0.000231
European (Non-Finnish)	0.00104	0.00103
Middle Eastern	0.000776	0.000761
South Asian	0.000503	0.000490
Other	0.00100	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post- transcriptional modification of an RNA. {ECO:0000250|UniProtKB:Q80WC9}.

Recessive Scores

• pRec: 0.138

Intolerance Scores

• loftool: 0.986
• rvis_EVS: 1.05
• rvis_percentile_EVS: 91.37

Haploinsufficiency Scores

• pHI: 0.0751
• hipred: N
• hipred_score: 0.425
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aasdh

Gene ontology

• Biological process: fatty acid metabolic process;beta-alanine metabolic process;amino acid activation for nonribosomal peptide biosynthetic process
• Molecular function: ATP binding;acid-thiol ligase activity