SERTAD4

SERTA domain containing 4

Basic information

Region (hg38): 1:210232796-210246631

Links

ENSG00000082497NCBI:56256HGNC:25236Uniprot:Q9NUC0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERTAD4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERTAD4 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
29
clinvar
29
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 29 0 0

Variants in SERTAD4

This is a list of pathogenic ClinVar variants found in the SERTAD4 region.

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

Position Type Phenotype Significance ClinVar
1-210237994-G-A not specified Uncertain significance (Sep 26, 2023)3160527
1-210238000-A-C not specified Uncertain significance (Feb 22, 2025)3794541
1-210238012-G-A not specified Uncertain significance (Oct 10, 2023)3160528
1-210238031-G-A not specified Uncertain significance (Jan 10, 2022)2271224
1-210238043-T-C not specified Uncertain significance (Oct 02, 2023)3160530
1-210238070-C-T not specified Uncertain significance (Nov 30, 2022)2329924
1-210238112-G-A not specified Uncertain significance (Feb 26, 2024)3160526
1-210238114-G-A not specified Uncertain significance (Apr 28, 2022)2407705
1-210238126-C-G not specified Uncertain significance (Jul 25, 2023)2614088
1-210238126-C-T not specified Uncertain significance (Apr 20, 2024)3317659
1-210239502-A-G not specified Uncertain significance (Jan 05, 2022)2213567
1-210239595-G-A not specified Uncertain significance (May 01, 2024)3317662
1-210241580-G-A not specified Uncertain significance (Jul 09, 2021)2234428
1-210241623-C-G not specified Uncertain significance (Nov 09, 2024)3440105
1-210241624-G-A not specified Uncertain significance (Aug 12, 2021)2355587
1-210241787-A-C not specified Uncertain significance (Nov 07, 2022)2323466
1-210241796-G-A not specified Uncertain significance (Jan 21, 2025)3794537
1-210241804-A-G not specified Uncertain significance (Oct 12, 2021)2254707
1-210241813-T-A not specified Uncertain significance (Feb 07, 2025)3794539
1-210241825-C-G not specified Uncertain significance (Jan 03, 2025)3794536
1-210241867-A-G not specified Uncertain significance (May 27, 2022)2292570
1-210241889-C-T not specified Uncertain significance (Feb 15, 2023)2466322
1-210241918-T-C not specified Uncertain significance (Jul 12, 2022)2300718
1-210241966-C-T not specified Uncertain significance (Mar 02, 2023)2493339
1-210241979-C-G not specified Uncertain significance (Apr 01, 2024)3317661

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SERTAD4protein_codingprotein_codingENST00000367012 313833
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.03390.9591257370101257470.0000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1941831910.9600.000009712330
Missense in Polyphen4251.5850.81419574
Synonymous0.1327172.40.9800.00000382683
Loss of Function2.34514.70.3418.91e-7168

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001250.000123
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004620.0000462
European (Non-Finnish)0.00006190.0000527
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0882

Intolerance Scores

loftool
0.160
rvis_EVS
0.93
rvis_percentile_EVS
89.79

Haploinsufficiency Scores

pHI
0.151
hipred
Y
hipred_score
0.765
ghis
0.408

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.614

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Sertad4
Phenotype

Gene ontology

Biological process
Cellular component
nucleus
Molecular function