GeneBe

SPDYE5

speedy/RINGO cell cycle regulator family member E5, the group of Speedy/RINGO cell cycle regulator family

Basic information

Region (hg38): 7:75492320-75504316

Links

ENSG00000170092 ∙ NCBI:442590 ∙ ∙ HGNC:35464 ∙ Uniprot:A6NIY4 ∙ 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 SPDYE5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPDYE5 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
2
clinvar
 2
missense
47
clinvar
4
clinvar
 51
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
 1
non coding
2
clinvar
 2
Total 0 0 49 6 0

Variants in SPDYE5

This is a list of pathogenic ClinVar variants found in the SPDYE5 region.

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

Position Type Phenotype Significance ClinVar
7-75494194-G-T Likely benign (Apr 01, 2023)2657613
7-75495132-C-T not specified Uncertain significance (Sep 26, 2024)3448269
7-75495135-T-C not specified Uncertain significance (Aug 04, 2024)3448272
7-75495149-T-A not specified Uncertain significance (Jul 09, 2021)2377955
7-75495182-T-A not specified Uncertain significance (Apr 13, 2023)2514733
7-75495230-G-T not specified Uncertain significance (Feb 28, 2023)2490723
7-75495240-C-A not specified Uncertain significance (Aug 16, 2021)2346347
7-75495248-G-C not specified Uncertain significance (Aug 16, 2021)2346348
7-75495266-G-A not specified Uncertain significance (May 22, 2023)2549322
7-75495273-C-T not specified Uncertain significance (Jan 01, 2025)3800537
7-75495288-T-C not specified Likely benign (Jul 09, 2024)3448267
7-75496686-A-T not specified Uncertain significance (Nov 07, 2023)3168781
7-75496693-C-A not specified Uncertain significance (May 20, 2024)3322077
7-75496725-A-T not specified Uncertain significance (Jul 09, 2021)2235806
7-75496728-T-G not specified Likely benign (Jan 24, 2024)3168782
7-75496738-G-C not specified Uncertain significance (Oct 29, 2024)3448274
7-75496742-G-A not specified Uncertain significance (Aug 10, 2023)2592749
7-75496755-C-T not specified Uncertain significance (Jun 06, 2023)2549071
7-75496758-T-C not specified Uncertain significance (Jun 07, 2022)2364151
7-75496763-G-A not specified Uncertain significance (May 30, 2024)3322079
7-75496772-C-T not specified Uncertain significance (Oct 20, 2023)3168783
7-75496790-G-A not specified Uncertain significance (Oct 30, 2023)3168784
7-75496791-A-T not specified Uncertain significance (Jul 05, 2024)3448266
7-75496848-G-A not specified Uncertain significance (Mar 20, 2023)2509043
7-75496851-G-A not specified Uncertain significance (Dec 06, 2024)3448265

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Gene ontology

Biological process
Cellular component
Molecular function
protein kinase binding