AASDHPPT

aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

Basic information

Region (hg38): 11:106075501-106098699

Links

ENSG00000149313

∙ NCBI:60496 ∙ OMIM:607756 ∙ HGNC:14235 ∙ Uniprot:Q9NRN7 ∙ 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 AASDHPPT gene.

not_specified (41 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AASDHPPT gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015423.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			41 clinvar			41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AASDHPPT	protein_coding	protein_coding	ENST00000278618	6	23210

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0339	0.959	125703	0	45	125748	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.462	151	168	0.900	0.00000832	2038
Missense in Polyphen		33	47.003	0.70208		620
Synonymous	0.235	55	57.3	0.961	0.00000269	566
Loss of Function	2.34	5	14.7	0.341	6.26e-7	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000559	0.000554
European (Non-Finnish)	0.000223	0.000220
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4'- phosphopantetheine moiety from coenzyme A to a serine residue of a broad range of acceptors, such as the acyl carrier domain of FASN. {ECO:0000269|PubMed:11286508, ECO:0000269|PubMed:12815048, ECO:0000269|PubMed:18022563}.;
Pathway: Pantothenate and CoA biosynthesis - Homo sapiens (human);acyl carrier protein metabolism;Metabolism;Lysine degradation;Vitamin B5 (pantothenate) metabolism;Metabolism of water-soluble vitamins and cofactors;Metabolism of vitamins and cofactors (Consensus)

Recessive Scores

pRec: 0.189

Intolerance Scores

loftool: 0.447
rvis_EVS: -0.38
rvis_percentile_EVS: 27.42

Haploinsufficiency Scores

pHI: 0.238
hipred: Y
hipred_score: 0.736
ghis: 0.706

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.995

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Aasdhppt
Phenotype

Gene ontology

Biological process: pantothenate metabolic process;lysine biosynthetic process via aminoadipic acid
Cellular component: cytosol;extracellular exosome
Molecular function: magnesium ion binding;protein binding;holo-[acyl-carrier-protein] synthase activity