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.

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.

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			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	0	0

Variants in AASDHPPT

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

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

Position	Type	Phenotype	Significance	ClinVar
11-106077744-C-T		not specified	Uncertain significance (Dec 02, 2022)
11-106077745-C-T		not specified	Uncertain significance (Aug 21, 2023)
11-106077850-G-A		not specified	Uncertain significance (Jan 19, 2022)
11-106079497-G-A		not specified	Uncertain significance (Jun 09, 2022)
11-106079497-G-T		not specified	Uncertain significance (Jun 29, 2023)
11-106079518-T-G		not specified	Uncertain significance (May 11, 2022)
11-106079530-C-T		not specified	Uncertain significance (Oct 05, 2022)
11-106079569-A-G		not specified	Uncertain significance (Feb 15, 2023)
11-106079584-C-A		not specified	Uncertain significance (Aug 16, 2021)
11-106079588-A-G		not specified	Uncertain significance (Jun 22, 2023)
11-106079591-C-T		not specified	Uncertain significance (Feb 27, 2023)
11-106079654-T-C		not specified	Uncertain significance (Oct 06, 2021)
11-106079666-T-C		not specified	Uncertain significance (Feb 13, 2024)
11-106091343-A-C		not specified	Uncertain significance (Dec 27, 2022)
11-106091343-A-G		not specified	Uncertain significance (Apr 09, 2024)
11-106091356-T-C		not specified	Uncertain significance (Jun 12, 2023)
11-106091464-A-C		not specified	Uncertain significance (Jun 24, 2022)
11-106094634-G-A		not specified	Uncertain significance (Jun 28, 2023)
11-106096788-A-C		not specified	Uncertain significance (Jun 18, 2021)
11-106096788-A-G		not specified	Uncertain significance (Dec 06, 2021)
11-106096821-G-A		not specified	Uncertain significance (Sep 23, 2023)
11-106096884-A-G		not specified	Uncertain significance (Jul 13, 2022)

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

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