ANKRD35

ankyrin repeat domain 35, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 1:145866560-145885866

Links

ENSG00000198483NCBI:148741HGNC:26323Uniprot:Q8N283AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKRD35 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD35 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
54
clinvar
6
clinvar
60
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 54 6 0

Variants in ANKRD35

This is a list of pathogenic ClinVar variants found in the ANKRD35 region.

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

Position Type Phenotype Significance ClinVar
1-145867368-T-C not specified Uncertain significance (Jun 03, 2022)2293545
1-145867380-G-A not specified Uncertain significance (May 20, 2024)3297580
1-145867992-C-T not specified Likely benign (Dec 08, 2021)2228329
1-145868019-T-C not specified Uncertain significance (Jun 03, 2024)3297587
1-145868327-A-G not specified Uncertain significance (Jun 06, 2023)2518988
1-145868345-C-T not specified Uncertain significance (Dec 06, 2022)2220999
1-145868346-G-A not specified Uncertain significance (Apr 10, 2023)2535711
1-145868352-C-G not specified Uncertain significance (May 11, 2022)2289042
1-145868394-C-G not specified Uncertain significance (Aug 22, 2023)2620841
1-145872004-G-A not specified Uncertain significance (Mar 06, 2023)2494797
1-145872190-T-C not specified Uncertain significance (Oct 10, 2023)3126183
1-145872347-C-G not specified Uncertain significance (Apr 08, 2024)3297524
1-145872354-C-A not specified Uncertain significance (Apr 11, 2023)2511571
1-145872419-G-C not specified Uncertain significance (Nov 13, 2023)3126165
1-145872507-G-T not specified Uncertain significance (Jun 02, 2023)2555895
1-145872553-C-G not specified Uncertain significance (Jul 06, 2021)2262788
1-145872613-T-C not specified Likely benign (Sep 25, 2023)3126149
1-145872691-A-C not specified Likely benign (Apr 25, 2022)2285272
1-145872725-T-C not specified Likely benign (Apr 08, 2024)3297569
1-145872760-C-T not specified Likely benign (May 31, 2023)2554281
1-145872797-G-C not specified Uncertain significance (Nov 07, 2022)2322834
1-145872809-G-C not specified Uncertain significance (May 09, 2024)3297516
1-145872856-C-G not specified Uncertain significance (Aug 05, 2023)2616656
1-145872929-C-G not specified Uncertain significance (Feb 26, 2024)3126129
1-145872977-C-A not specified Uncertain significance (Jun 07, 2024)3297546

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ANKRD35protein_codingprotein_codingENST00000355594 1319297
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.66e-250.00863124708910311257480.00414
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3225325530.9610.00002986337
Missense in Polyphen121147.190.822051694
Synonymous-0.5692442331.050.00001192118
Loss of Function1.074351.30.8380.00000284534

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.007680.00759
Ashkenazi Jewish0.0002990.000298
East Asian0.02300.0228
Finnish0.001140.00102
European (Non-Finnish)0.002300.00227
Middle Eastern0.02300.0228
South Asian0.004460.00442
Other0.003950.00375

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.993
rvis_EVS
0.88
rvis_percentile_EVS
88.89

Haploinsufficiency Scores

pHI
0.172
hipred
N
hipred_score
0.169
ghis
0.514

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0499

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ankrd35
Phenotype