ITPRIP

inositol 1,4,5-trisphosphate receptor interacting protein

Basic information

Region (hg38): 10:104309697-104338465

Previous symbols: [ "KIAA1754" ]

Links

ENSG00000148841 ∙ NCBI:85450 ∙ OMIM:620205 ∙ HGNC:29370 ∙ Uniprot:Q8IWB1 ∙ 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 ITPRIP gene.

• Inborn genetic diseases (28 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITPRIP 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			27	1		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	2	0

Variants in ITPRIP

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

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

Position	Type	Phenotype	Significance	ClinVar
10-104314428-G-T		not specified	Uncertain significance (Sep 20, 2023)
10-104314436-G-A		not specified	Uncertain significance (Jan 04, 2022)
10-104314437-G-T		not specified	Uncertain significance (Sep 20, 2023)
10-104314511-C-A		not specified	Uncertain significance (Oct 20, 2021)
10-104314512-G-A		not specified	Uncertain significance (Feb 16, 2023)
10-104314528-C-T			Likely benign (Mar 01, 2023)
10-104314542-G-A		not specified	Uncertain significance (Oct 14, 2023)
10-104314608-G-A		not specified	Uncertain significance (Sep 16, 2021)
10-104314679-A-C		not specified	Uncertain significance (Oct 30, 2023)
10-104314686-C-T		not specified	Uncertain significance (Jan 16, 2024)
10-104314772-C-T		not specified	Uncertain significance (Jul 14, 2021)
10-104314871-G-A		not specified	Likely benign (Aug 08, 2023)
10-104314878-G-A		not specified	Uncertain significance (May 18, 2023)
10-104314922-C-T		not specified	Uncertain significance (Jun 05, 2023)
10-104314926-A-C		not specified	Uncertain significance (Oct 12, 2021)
10-104315026-C-A		not specified	Uncertain significance (Mar 29, 2022)
10-104315151-T-C		not specified	Uncertain significance (Dec 21, 2022)
10-104315184-T-G		not specified	Uncertain significance (Apr 18, 2023)
10-104315222-G-C		not specified	Uncertain significance (Nov 17, 2023)
10-104315247-G-A		not specified	Uncertain significance (Feb 06, 2023)
10-104315282-C-T		not specified	Uncertain significance (Feb 21, 2024)
10-104315307-C-T		not specified	Uncertain significance (Feb 15, 2023)
10-104315319-C-T		not specified	Uncertain significance (Sep 20, 2023)
10-104315360-C-T		not specified	Uncertain significance (Sep 16, 2021)
10-104315361-G-A		not specified	Uncertain significance (Aug 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ITPRIP	protein_coding	protein_coding	ENST00000278071	1	26269

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.80e-11	0.0575	125682	1	65	125748	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.563	332	362	0.917	0.0000242	3566
Missense in Polyphen		90	98.714	0.91173		1075
Synonymous	-0.979	185	169	1.10	0.0000121	1138
Loss of Function	0.0467	16	16.2	0.987	8.66e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000514	0.000510
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000178	0.000176
Middle Eastern	0.000164	0.000163
South Asian	0.00105	0.000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Enhances Ca(2+)-mediated inhibition of inositol 1,4,5- triphosphate receptor (ITPR) Ca(2+) release. {ECO:0000269|PubMed:16990268}.

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.619
• rvis_EVS: -0.55
• rvis_percentile_EVS: 19.86

Haploinsufficiency Scores

• pHI: 0.344
• hipred: N
• hipred_score: 0.350
• ghis: 0.536

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.496

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Itprip
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Cellular component: plasma membrane;membrane
• Molecular function: protein binding