ACCS

1-aminocyclopropane-1-carboxylate synthase homolog (inactive)

Basic information

Region (hg38): 11:44065925-44084237

Links

ENSG00000110455 ∙ NCBI:84680 ∙ OMIM:608405 ∙ HGNC:23989 ∙ Uniprot:Q96QU6 ∙ 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 ACCS gene.

• not_specified (72 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACCS gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032592.4. 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					2	2
missense			70	2	2	74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	2	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACCS	protein_coding	protein_coding	ENST00000263776	14	18298

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.98e-7	0.983	125708	0	40	125748	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.226	284	295	0.963	0.0000169	3261
Missense in Polyphen		102	112.04	0.91039		1275
Synonymous	0.369	108	113	0.956	0.00000591	982
Loss of Function	2.19	14	26.1	0.536	0.00000111	313

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000240	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000248	0.000237
Middle Eastern	0.000163	0.000163
South Asian	0.000132	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Does not catalyze the synthesis of 1-aminocyclopropane- 1-carboxylate but is capable of catalyzing the deamination of L- vinylglycine. {ECO:0000269|PubMed:11470512}.

Recessive Scores

• pRec: 0.158

Intolerance Scores

• loftool: 0.326
• rvis_EVS: 0.29
• rvis_percentile_EVS: 71.57

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.201
• ghis: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.819

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Accs

Gene ontology

• Biological process: 1-aminocyclopropane-1-carboxylate biosynthetic process
• Molecular function: protein binding;1-aminocyclopropane-1-carboxylate synthase activity;pyridoxal phosphate binding;identical protein binding;protein homodimerization activity