SPDYE6

speedy/RINGO cell cycle regulator family member E6, the group of Speedy/RINGO cell cycle regulator family

Basic information

Region (hg38): 7:102345746-102356444

Links

ENSG00000260097 ∙ NCBI:729597 ∙ ∙ HGNC:35465 ∙ Uniprot:P0CI01 ∙ 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 SPDYE6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPDYE6 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			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	0

Variants in SPDYE6

This is a list of pathogenic ClinVar variants found in the SPDYE6 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-102348285-T-A		not specified	Uncertain significance (Dec 16, 2024)
7-102348292-A-C		not specified	Uncertain significance (Jan 30, 2025)
7-102348477-G-A		not specified	Uncertain significance (Mar 22, 2023)
7-102348498-C-T		not specified	Uncertain significance (Sep 09, 2021)
7-102348653-C-G		not specified	Uncertain significance (Aug 08, 2023)
7-102350736-G-C		not specified	Uncertain significance (May 02, 2024)
7-102350749-C-T		not specified	Uncertain significance (Sep 04, 2024)
7-102350750-G-A		not specified	Uncertain significance (Jul 12, 2023)
7-102350798-C-A		not specified	Uncertain significance (Dec 03, 2024)
7-102350806-A-G		not specified	Uncertain significance (Oct 22, 2024)
7-102352069-G-C		not specified	Uncertain significance (Sep 01, 2021)
7-102352098-C-T		not specified	Uncertain significance (Jan 10, 2025)
7-102353388-G-A		not specified	Uncertain significance (Jan 24, 2023)
7-102354823-C-T		not specified	Likely benign (Feb 02, 2022)
7-102354867-C-A		not specified	Uncertain significance (Nov 09, 2021)
7-102354867-C-T		not specified	Uncertain significance (Sep 04, 2024)
7-102354883-C-A		not specified	Uncertain significance (Sep 27, 2021)
7-102354886-G-A		not specified	Uncertain significance (Nov 09, 2021)
7-102354897-G-A		not specified	Uncertain significance (Mar 11, 2022)
7-102354909-T-C		not specified	Uncertain significance (Feb 07, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Oocyte meiosis - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human) (Consensus)

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene ontology

• Molecular function: protein kinase binding