CYREN

cell cycle regulator of NHEJ

Basic information

Region (hg38): 7:135092362-135170795

Previous symbols: [ "C7orf49" ]

Links

ENSG00000122783 ∙ NCBI:78996 ∙ OMIM:616980 ∙ HGNC:22432 ∙ Uniprot:Q9BWK5 ∙ 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 CYREN gene.

• not provided (1 variants)

Variants pathogenicity by type

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

Variants in CYREN

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

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

Position	Type	Phenotype	Significance	ClinVar
7-135115454-A-G		not specified	Uncertain significance (Jul 19, 2022)
7-135115461-A-C		not specified	Uncertain significance (May 13, 2022)
7-135134832-C-A			Benign (Jun 11, 2018)
7-135134849-C-T			Likely benign (Dec 31, 2019)
7-135134894-C-T		not specified	Uncertain significance (Jan 23, 2023)
7-135134918-T-A		not specified	Uncertain significance (Jun 13, 2022)
7-135134933-T-G		not specified	Uncertain significance (Jan 10, 2023)
7-135134965-C-T		not specified	Likely benign (Apr 08, 2022)
7-135135098-G-C		not specified	Uncertain significance (Mar 02, 2023)
7-135135190-A-C		not specified	Uncertain significance (Jan 24, 2023)
7-135135199-G-A		not specified	Uncertain significance (Sep 27, 2021)
7-135164448-G-A		not specified	Likely benign (Jan 25, 2024)
7-135164564-C-A		not specified	Uncertain significance (Feb 05, 2024)
7-135164583-G-A		not specified	Uncertain significance (Dec 13, 2023)
7-135164611-A-G		not specified	Uncertain significance (Dec 28, 2022)
7-135164706-G-A		not specified	Uncertain significance (Jan 19, 2022)
7-135164709-T-C		not specified	Uncertain significance (Feb 23, 2023)
7-135164730-G-T		not specified	Likely benign (Dec 19, 2023)
7-135164736-C-A		not specified	Uncertain significance (May 27, 2022)
7-135164754-C-G		not specified	Uncertain significance (Feb 09, 2023)
7-135164829-G-A		not specified	Uncertain significance (Sep 14, 2021)
7-135164920-T-C		not specified	Uncertain significance (Jun 06, 2022)
7-135164962-G-A		not specified	Uncertain significance (Oct 05, 2023)
7-135166638-T-C			Benign (Jun 06, 2018)
7-135166727-G-C		not specified	Likely benign (Aug 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYREN	protein_coding	protein_coding	ENST00000393114	3	78433

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.260	0.647	125736	0	6	125742	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.294	85	93.0	0.914	0.00000511	1023
Missense in Polyphen		23	25.042	0.91847		295
Synonymous	-0.564	44	39.5	1.11	0.00000252	320
Loss of Function	1.24	1	3.52	0.284	1.49e-7	42

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000907	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 1: Cell-cycle-specific inhibitor of classical non-homologous end joining (NHEJ) of DNA double-strand break (DSB) repair during the S and G2 phases (PubMed:28959974). Acts as a regulator of DNA repair pathway choice by specifically inhibiting classical NHEJ during the S and G2 phases, thereby promoting error-free repair by homologous recombination during cell cycle phases when sister chromatids are present (PubMed:28959974). Preferentially protects single-stranded overhangs at break sites by inhibiting classical NHEJ, thereby creating a local environment that favors homologous recombination (PubMed:28959974). Acts via interaction with XRCC5/Ku80 and XRCC6/Ku70, interaction restricted during the S and G2 phases only (PubMed:28959974). Molecular mechanisms governing classical NHEJ inhibition via interaction with XRCC5/Ku80 and XRCC6/Ku70 are unknown (PubMed:28959974). May act as a regulator of proteasome (By similarity). {ECO:0000250|UniProtKB:Q09HN1, ECO:0000269|PubMed:28959974}.

Intolerance Scores

• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• pHI: 0.0530
• hipred: N
• hipred_score: 0.146
• ghis: 0.457

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cyren
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: double-strand break repair via nonhomologous end joining;negative regulation of double-strand break repair via nonhomologous end joining
• Cellular component: nucleus;cytoplasm
• Molecular function: protein binding