SERTAD4

SERTA domain containing 4

Basic information

Region (hg38): 1:210232796-210246631

Links

ENSG00000082497 ∙ NCBI:56256 ∙ ∙ HGNC:25236 ∙ Uniprot:Q9NUC0 ∙ 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 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			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)
1-210238000-A-C		not specified	Uncertain significance (Feb 22, 2025)
1-210238012-G-A		not specified	Uncertain significance (Oct 10, 2023)
1-210238031-G-A		not specified	Uncertain significance (Jan 10, 2022)
1-210238043-T-C		not specified	Uncertain significance (Oct 02, 2023)
1-210238070-C-T		not specified	Uncertain significance (Nov 30, 2022)
1-210238112-G-A		not specified	Uncertain significance (Feb 26, 2024)
1-210238114-G-A		not specified	Uncertain significance (Apr 28, 2022)
1-210238126-C-G		not specified	Uncertain significance (Jul 25, 2023)
1-210238126-C-T		not specified	Uncertain significance (Apr 20, 2024)
1-210239502-A-G		not specified	Uncertain significance (Jan 05, 2022)
1-210239595-G-A		not specified	Uncertain significance (May 01, 2024)
1-210241580-G-A		not specified	Uncertain significance (Jul 09, 2021)
1-210241623-C-G		not specified	Uncertain significance (Nov 09, 2024)
1-210241624-G-A		not specified	Uncertain significance (Aug 12, 2021)
1-210241787-A-C		not specified	Uncertain significance (Nov 07, 2022)
1-210241796-G-A		not specified	Uncertain significance (Jan 21, 2025)
1-210241804-A-G		not specified	Uncertain significance (Oct 12, 2021)
1-210241813-T-A		not specified	Uncertain significance (Feb 07, 2025)
1-210241825-C-G		not specified	Uncertain significance (Jan 03, 2025)
1-210241867-A-G		not specified	Uncertain significance (May 27, 2022)
1-210241889-C-T		not specified	Uncertain significance (Feb 15, 2023)
1-210241918-T-C		not specified	Uncertain significance (Jul 12, 2022)
1-210241966-C-T		not specified	Uncertain significance (Mar 02, 2023)
1-210241979-C-G		not specified	Uncertain significance (Apr 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERTAD4	protein_coding	protein_coding	ENST00000367012	3	13833

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0339	0.959	125737	0	10	125747	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.194	183	191	0.960	0.00000971	2330
Missense in Polyphen		42	51.585	0.81419		574
Synonymous	0.132	71	72.4	0.980	0.00000382	683
Loss of Function	2.34	5	14.7	0.341	8.91e-7	168

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000125	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000619	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

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

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

Mouse Genome Informatics

• Gene name: Sertad4

Gene ontology

• Cellular component: nucleus