ANKRD45

ankyrin repeat domain 45, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 1:173608336-173669851

Links

ENSG00000183831NCBI:339416OMIM:618712HGNC:24786Uniprot:Q5TZF3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKRD45 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD45 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
12
clinvar
12
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 13 0 0

Variants in ANKRD45

This is a list of pathogenic ClinVar variants found in the ANKRD45 region.

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

Position Type Phenotype Significance ClinVar
1-173635843-A-C not specified Uncertain significance (Jul 13, 2021)3176416
1-173646902-C-A not specified Uncertain significance (Feb 13, 2024)3126815
1-173646908-C-T not specified Uncertain significance (Sep 17, 2021)2210548
1-173646911-T-C not specified Uncertain significance (Oct 13, 2023)3126811
1-173646930-C-T not specified Uncertain significance (Dec 01, 2022)2396306
1-173646935-A-G not specified Uncertain significance (Jan 29, 2024)3126799
1-173646975-A-C not specified Uncertain significance (Jan 23, 2023)2478191
1-173659189-C-A not specified Uncertain significance (May 03, 2023)2542047
1-173659271-C-G not specified Uncertain significance (Aug 23, 2021)2403488
1-173659271-C-T not specified Uncertain significance (Dec 21, 2023)3126779
1-173659307-G-A not specified Uncertain significance (Feb 23, 2023)3126776
1-173659389-C-G not specified Uncertain significance (Feb 06, 2023)2460242
1-173659393-G-A not specified Uncertain significance (Dec 21, 2022)2339024
1-173659396-T-C not specified Uncertain significance (Mar 19, 2024)3297676

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ANKRD45protein_codingprotein_codingENST00000333279 560302
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0005820.9071257260211257470.0000835
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5951171370.8570.000006531739
Missense in Polyphen1824.0950.74705336
Synonymous0.8014047.00.8510.00000218496
Loss of Function1.49712.80.5496.05e-7163

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001160.000116
Ashkenazi Jewish0.000.00
East Asian0.0003810.000381
Finnish0.00004630.0000462
European (Non-Finnish)0.00005280.0000527
Middle Eastern0.0003810.000381
South Asian0.00009990.0000980
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0947

Intolerance Scores

loftool
0.785
rvis_EVS
0.66
rvis_percentile_EVS
84.35

Haploinsufficiency Scores

pHI
0.131
hipred
N
hipred_score
0.146
ghis
0.400

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.446

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ankrd45
Phenotype

Gene ontology

Biological process
biological_process
Cellular component
cellular_component
Molecular function
molecular_function;protein binding