SENP3-EIF4A1

SENP3-EIF4A1 readthrough (NMD candidate)

Basic information

Region (hg38): 17:7563287-7578715

Links

ENSG00000277957 ∙ NCBI:100533955 ∙ ∙ HGNC:49182 ∙ ∙ ∙ 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 SENP3-EIF4A1 gene.

• Inborn genetic diseases (16 variants)
• not provided (1 variants)
• Myoepithelial tumor (1 variants)
• Autism spectrum disorder (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SENP3-EIF4A1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding			18		1	19
Total	0	0	19	0	1

Variants in SENP3-EIF4A1

This is a list of pathogenic ClinVar variants found in the SENP3-EIF4A1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-7563305-G-A		not specified	Uncertain significance (Apr 28, 2023)
17-7563331-G-C		not specified	Uncertain significance (May 30, 2023)
17-7563338-G-A		not specified	Uncertain significance (Sep 29, 2023)
17-7563350-G-A		not specified	Uncertain significance (Oct 06, 2024)
17-7563377-A-G		not specified	Uncertain significance (Aug 02, 2021)
17-7563430-T-A		not specified	Uncertain significance (May 31, 2022)
17-7563485-C-T		not specified	Uncertain significance (Jun 22, 2021)
17-7563546-G-A		not specified	Uncertain significance (Aug 12, 2024)
17-7563614-C-T		not specified	Uncertain significance (Jun 22, 2024)
17-7563632-T-C		not specified	Uncertain significance (Feb 25, 2025)
17-7563635-G-C		not specified	Uncertain significance (Feb 23, 2023)
17-7563696-A-G		not specified	Uncertain significance (Nov 08, 2024)
17-7563704-A-G		not specified	Uncertain significance (Dec 04, 2023)
17-7563731-C-T		not specified	Uncertain significance (Sep 16, 2021)
17-7563740-G-C		not specified	Uncertain significance (Aug 12, 2024)
17-7563741-A-T		not specified	Uncertain significance (Aug 12, 2024)
17-7563746-G-T		not specified	Uncertain significance (Mar 01, 2024)
17-7563762-C-T		not specified	Uncertain significance (Dec 06, 2021)
17-7563788-T-G		not specified	Uncertain significance (Jun 10, 2024)
17-7564625-G-A		not specified	Uncertain significance (Mar 01, 2024)
17-7564651-G-C		not specified	Uncertain significance (Dec 14, 2022)
17-7564665-A-T		not specified	Uncertain significance (Sep 27, 2024)
17-7564681-G-C		not specified	Uncertain significance (Nov 23, 2024)
17-7564696-C-A		not specified	Uncertain significance (May 27, 2022)
17-7564697-C-T		not specified	Uncertain significance (May 14, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Biological process: protein desumoylation
• Cellular component: nucleus;MLL1 complex
• Molecular function: cysteine-type peptidase activity