WRNIP1

WRN helicase interacting protein 1, the group of AAA ATPases|Cilia and flagella associated

Basic information

Region (hg38): 6:2765393-2786952

Links

ENSG00000124535 ∙ NCBI:56897 ∙ OMIM:608196 ∙ HGNC:20876 ∙ Uniprot:Q96S55 ∙ 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 WRNIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WRNIP1 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				4		4
missense			58	1	1	60
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	1		2
Total	0	0	59	6	1

Variants in WRNIP1

This is a list of pathogenic ClinVar variants found in the WRNIP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-2765635-G-C		not specified	Uncertain significance (Oct 01, 2024)
6-2765650-C-T		not specified	Uncertain significance (Dec 18, 2023)
6-2765672-A-G		not specified	Uncertain significance (Apr 19, 2024)
6-2765674-G-A		not specified	Uncertain significance (Jun 28, 2022)
6-2765701-A-C		not specified	Uncertain significance (May 03, 2024)
6-2765749-C-T		not specified	Uncertain significance (Jun 24, 2022)
6-2765777-C-T		not specified	Uncertain significance (Nov 25, 2024)
6-2765800-C-T		not specified	Uncertain significance (Jun 01, 2023)
6-2765836-C-T		not specified	Uncertain significance (Oct 16, 2024)
6-2765846-C-T		not specified	Uncertain significance (Aug 05, 2024)
6-2765853-C-A		not specified	Uncertain significance (Aug 27, 2024)
6-2765855-C-T		not specified	Uncertain significance (Feb 17, 2023)
6-2765890-G-C		not specified	Uncertain significance (Dec 19, 2023)
6-2765913-G-T		not specified	Uncertain significance (Jun 22, 2023)
6-2765951-G-T		not specified	Uncertain significance (Dec 16, 2022)
6-2765978-G-T		not specified	Uncertain significance (Dec 16, 2022)
6-2765992-C-T		not specified	Uncertain significance (Aug 23, 2021)
6-2765993-C-T		not specified	Uncertain significance (Jan 23, 2024)
6-2766008-C-T		not specified	Uncertain significance (Jan 24, 2024)
6-2766017-G-C		not specified	Uncertain significance (May 08, 2024)
6-2766034-G-A		not specified	Uncertain significance (Nov 08, 2024)
6-2766040-G-A		not specified	Uncertain significance (Jan 30, 2024)
6-2766049-C-T		not specified	Uncertain significance (Jan 19, 2022)
6-2766062-C-T		not specified	Uncertain significance (Sep 14, 2023)
6-2766065-C-T		not specified	Uncertain significance (Apr 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WRNIP1	protein_coding	protein_coding	ENST00000380773	7	21539

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0246	0.975	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.09	382	326	1.17	0.0000177	4244
Missense in Polyphen		123	121.51	1.0122		1345
Synonymous	-5.09	215	139	1.55	0.00000844	1333
Loss of Function	3.04	7	22.6	0.310	0.00000135	255

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.000409	0.000397
East Asian	0.0000546	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.0000546	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as a modulator of initiation or reinitiation events during DNA polymerase delta-mediated DNA synthesis. In the presence of ATP, stimulation of DNA polymerase delta-mediated DNA synthesis is decreased. Plays also a role in the innate immune defense against viruses. Stabilizes the RIG-I/DDX58 dsRNA interaction and promotes RIG-I/DDX58 'Lys-63'-linked polyubiquitination. In turn, RIG-I/DDX58 transmits the signal through mitochondrial MAVS. {ECO:0000269|PubMed:15670210, ECO:0000269|PubMed:29053956}.

Recessive Scores

• pRec: 0.237

Haploinsufficiency Scores

• pHI: 0.669
• hipred: Y
• hipred_score: 0.809
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.927

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wrnip1
• Phenotype: homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hematopoietic system phenotype; immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: DNA synthesis involved in DNA repair;DNA strand renaturation;DNA-dependent DNA replication;regulation of DNA repair;DNA recombination;regulation of DNA-dependent DNA replication initiation;DNA replication, Okazaki fragment processing;positive regulation of catalytic activity;innate immune response
• Cellular component: nuclear chromosome, telomeric region;nucleus;membrane;replisome;perinuclear region of cytoplasm
• Molecular function: DNA binding;protein binding;ATP binding;enzyme activator activity;ATPase activity;identical protein binding;single-stranded DNA-dependent ATPase activity;metal ion binding