AMMECR1L

AMMECR1 like

Basic information

Region (hg38): 2:127861630-127885967

Links

ENSG00000144233 ∙ NCBI:83607 ∙ ∙ HGNC:28658 ∙ Uniprot:Q6DCA0 ∙ 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 AMMECR1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AMMECR1L 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				1		1
missense			10		1	11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	1

Variants in AMMECR1L

This is a list of pathogenic ClinVar variants found in the AMMECR1L region.

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

Position	Type	Phenotype	Significance	ClinVar
2-127865107-T-C		not specified	Uncertain significance (Oct 13, 2023)
2-127865136-G-A			Likely benign (Jul 01, 2022)
2-127865169-C-A		not specified	Uncertain significance (Jun 26, 2023)
2-127865183-T-C		not specified	Uncertain significance (May 23, 2024)
2-127866996-T-C		not specified	Uncertain significance (Jul 27, 2022)
2-127871288-A-G		not specified	Uncertain significance (May 30, 2023)
2-127871322-G-A		not specified	Uncertain significance (Nov 08, 2021)
2-127873855-C-T		not specified	Uncertain significance (Nov 09, 2021)
2-127873963-C-T		not specified	Uncertain significance (Jun 29, 2023)
2-127873991-C-G			Benign (Apr 11, 2018)
2-127873993-G-A		not specified	Uncertain significance (Jul 12, 2022)
2-127874006-T-A		not specified	Uncertain significance (Jul 29, 2022)
2-127874161-T-C		not specified	Uncertain significance (Aug 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AMMECR1L	protein_coding	protein_coding	ENST00000272647	6	24293

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.991	0.00870	125035	0	1	125036	0.00000400

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.47	91	185	0.491	0.0000111	2005
Missense in Polyphen		8	53.633	0.14916		584
Synonymous	-0.303	75	71.7	1.05	0.00000453	631
Loss of Function	3.78	1	18.6	0.0537	0.00000140	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0759

Intolerance Scores

• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.82

Haploinsufficiency Scores

• pHI: 0.411
• hipred: Y
• hipred_score: 0.740
• ghis: 0.477

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ammecr1l