AMN1

antagonist of mitotic exit network 1 homolog

Basic information

Region (hg38): 12:31671142-31729121

Links

ENSG00000151743NCBI:196394HGNC:27281Uniprot:Q8IY45AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AMN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AMN1 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
clinvar
1
missense
9
clinvar
9
nonsense
0
start loss
1
clinvar
1
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 11 1 0

Variants in AMN1

This is a list of pathogenic ClinVar variants found in the AMN1 region.

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

Position Type Phenotype Significance ClinVar
12-31689057-T-G not specified Uncertain significance (Jan 02, 2024)3116095
12-31689060-G-A not specified Uncertain significance (Jun 01, 2023)2554937
12-31689064-G-A not specified Uncertain significance (Sep 01, 2021)2224360
12-31689093-T-C not specified Uncertain significance (Feb 05, 2024)3116086
12-31689097-C-T not specified Uncertain significance (May 06, 2024)3293074
12-31689109-T-C not specified Uncertain significance (May 23, 2023)2550623
12-31697381-G-T not specified Uncertain significance (Mar 20, 2024)3293085
12-31697817-T-G not specified Uncertain significance (Jan 04, 2024)3116081
12-31697841-T-C not specified Uncertain significance (Feb 13, 2024)3116076
12-31697938-T-G Likely benign (Mar 01, 2023)2642831
12-31697949-C-A not specified Uncertain significance (Dec 11, 2023)3116072
12-31701943-A-T not specified Uncertain significance (Mar 24, 2023)2529414
12-31728977-A-C not specified Uncertain significance (Jan 11, 2023)2475556
12-31729002-G-A not specified Uncertain significance (Nov 17, 2023)3116101

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
AMN1protein_codingprotein_codingENST00000281471 758038
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3250.672124602181246110.0000361
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.25921330.6930.000006741653
Missense in Polyphen3041.3350.72578555
Synonymous0.7694349.90.8620.00000276505
Loss of Function2.54312.80.2346.17e-7174

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001450.000145
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003660.0000354
Middle Eastern0.000.00
South Asian0.00003470.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.109

Intolerance Scores

loftool
0.706
rvis_EVS
-0.1
rvis_percentile_EVS
46.2

Haploinsufficiency Scores

pHI
0.161
hipred
N
hipred_score
0.394
ghis
0.617

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.417

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Amn1
Phenotype

Gene ontology

Biological process
ubiquitin-dependent protein catabolic process;protein ubiquitination;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
Cellular component
SCF ubiquitin ligase complex
Molecular function
ubiquitin-protein transferase activity