AVPI1

arginine vasopressin induced 1

Basic information

Region (hg38): 10:97677424-97687241

Links

ENSG00000119986 ∙ NCBI:60370 ∙ OMIM:618537 ∙ HGNC:30898 ∙ Uniprot:Q5T686 ∙ 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 AVPI1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AVPI1 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in AVPI1

This is a list of pathogenic ClinVar variants found in the AVPI1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-97677925-G-A		not specified	Uncertain significance (Feb 16, 2023)
10-97677925-G-C		not specified	Uncertain significance (Jun 16, 2023)
10-97677987-C-T		not specified	Uncertain significance (Aug 09, 2021)
10-97679625-C-T		not specified	Uncertain significance (Feb 22, 2023)
10-97679752-C-T		not specified	Uncertain significance (Nov 01, 2022)
10-97679806-C-T		not specified	Uncertain significance (Dec 12, 2022)
10-97679835-T-C		not specified	Uncertain significance (Feb 27, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AVPI1	protein_coding	protein_coding	ENST00000370626	2	9900

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000380	0.226	125723	0	24	125747	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.122	96	92.7	1.04	0.00000596	937
Missense in Polyphen		33	35.306	0.9347		372
Synonymous	0.963	30	37.5	0.800	0.00000220	303
Loss of Function	-0.520	6	4.77	1.26	2.05e-7	50

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000204	0.000204
Ashkenazi Jewish	0.00	0.00
East Asian	0.000444	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.0000356	0.0000352
Middle Eastern	0.000444	0.000435
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.42
• rvis_percentile_EVS: 76.81

Haploinsufficiency Scores

• pHI: 0.0459
• hipred: N
• hipred_score: 0.123
• ghis: 0.405

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.870

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Avpi1
• Phenotype: homeostasis/metabolism phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: activation of MAPK activity;cell cycle
• Molecular function: protein binding