SERTAD3

SERTA domain containing 3

Basic information

Region (hg38): 19:40440843-40444335

Links

ENSG00000167565 ∙ NCBI:29946 ∙ OMIM:612125 ∙ HGNC:17931 ∙ Uniprot:Q9UJW9 ∙ 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 SERTAD3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERTAD3 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in SERTAD3

This is a list of pathogenic ClinVar variants found in the SERTAD3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-40441516-T-C		not specified	Uncertain significance (Nov 06, 2023)
19-40441534-A-C		not specified	Uncertain significance (Jul 06, 2021)
19-40441587-C-T		not specified	Uncertain significance (Sep 06, 2022)
19-40441662-C-T		not specified	Uncertain significance (Jun 10, 2024)
19-40441749-G-T		not specified	Uncertain significance (Dec 21, 2023)
19-40441872-C-T		not specified	Uncertain significance (Mar 06, 2023)
19-40441920-C-T		not specified	Uncertain significance (May 09, 2023)
19-40441953-C-T		not specified	Likely benign (Aug 12, 2021)
19-40441954-G-T		not specified	Uncertain significance (Jun 23, 2021)
19-40441996-A-G		not specified	Uncertain significance (May 26, 2023)
19-40442015-A-T		not specified	Uncertain significance (Jun 10, 2024)
19-40442024-C-A		not specified	Uncertain significance (May 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERTAD3	protein_coding	protein_coding	ENST00000322354	1	3862

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0181	0.741	125733	0	12	125745	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.265	94	102	0.926	0.00000538	1245
Missense in Polyphen		39	48.341	0.80678		654
Synonymous	-0.216	45	43.2	1.04	0.00000211	425
Loss of Function	0.782	3	4.86	0.617	2.82e-7	50

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000570	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000876	0.0000791
Middle Eastern	0.0000570	0.0000544
South Asian	0.00	0.00
Other	0.000189	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Strong transcriptional coactivator. {ECO:0000269|PubMed:10982866}.

Recessive Scores

• pRec: 0.147

Intolerance Scores

• loftool: 0.292
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.254
• hipred: Y
• hipred_score: 0.659
• ghis: 0.578

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.756

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sertad3

Gene ontology

• Biological process: regulation of transcription, DNA-templated;negative regulation of cell growth;positive regulation of transcription, DNA-templated
• Cellular component: nucleus;nucleolus
• Molecular function: protein binding