ACCSL

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

Basic information

Region (hg38): 11:44047981-44059977

Links

ENSG00000205126 ∙ NCBI:390110 ∙ ∙ HGNC:34391 ∙ Uniprot:Q4AC99 ∙ 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 ACCSL gene.

• not_specified (81 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACCSL gene is commonly pathogenic or not. These statistics are base on transcript: NM_001031854.2. 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				1		1
missense			75	5		80
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACCSL	protein_coding	protein_coding	ENST00000378832	14	11997

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.52e-18	0.00839	124720	0	93	124813	0.000373

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.264	304	317	0.958	0.0000178	3743
Missense in Polyphen		64	77.582	0.82493		1105
Synonymous	-0.921	133	120	1.11	0.00000602	1091
Loss of Function	0.226	27	28.3	0.954	0.00000137	339

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000499	0.000499
Ashkenazi Jewish	0.00	0.00
East Asian	0.000946	0.000946
Finnish	0.0000928	0.0000928
European (Non-Finnish)	0.000371	0.000371
Middle Eastern	0.000946	0.000946
South Asian	0.000458	0.000458
Other	0.000330	0.000330

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.547
• rvis_EVS: -0.15
• rvis_percentile_EVS: 42.23

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.382

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00916

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Accsl

Gene ontology

• Biological process: biosynthetic process
• Molecular function: catalytic activity;pyridoxal phosphate binding