ITPRIPL1

ITPRIP like 1

Basic information

Region (hg38): 2:96325317-96330517

Previous symbols: [ "KIAA1754L" ]

Links

ENSG00000198885 ∙ NCBI:150771 ∙ ∙ HGNC:29371 ∙ Uniprot:Q6GPH6 ∙ 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 ITPRIPL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITPRIPL1 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			36			36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	0	0

Variants in ITPRIPL1

This is a list of pathogenic ClinVar variants found in the ITPRIPL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-96326756-G-A		not specified	Uncertain significance (Feb 15, 2023)
2-96326782-G-A		not specified	Uncertain significance (Apr 27, 2024)
2-96326798-A-C		not specified	Uncertain significance (Dec 08, 2023)
2-96326825-C-A		not specified	Uncertain significance (Apr 19, 2023)
2-96326837-G-C		not specified	Uncertain significance (Apr 19, 2023)
2-96326907-G-C		not specified	Uncertain significance (Aug 09, 2021)
2-96327018-G-C		not specified	Uncertain significance (Aug 23, 2021)
2-96327058-G-A		not specified	Uncertain significance (Jan 19, 2024)
2-96327115-T-G		not specified	Uncertain significance (May 24, 2024)
2-96327349-C-G		not specified	Uncertain significance (Jul 20, 2022)
2-96327374-T-C		not specified	Uncertain significance (Apr 24, 2023)
2-96327397-C-T		not specified	Uncertain significance (Aug 11, 2022)
2-96327410-G-A		not specified	Uncertain significance (Oct 02, 2023)
2-96327413-G-A		not specified	Uncertain significance (Apr 06, 2022)
2-96327442-T-C		not specified	Uncertain significance (Mar 11, 2024)
2-96327457-G-A		not specified	Uncertain significance (Mar 14, 2023)
2-96327479-T-C		not specified	Uncertain significance (Jun 12, 2023)
2-96327598-C-T		not specified	Uncertain significance (Aug 02, 2023)
2-96327599-G-A		not specified	Uncertain significance (Apr 20, 2023)
2-96327637-A-G		not specified	Uncertain significance (Oct 05, 2023)
2-96327646-T-C		not specified	Uncertain significance (Feb 23, 2023)
2-96327648-T-G		not specified	Uncertain significance (Apr 08, 2022)
2-96327701-G-A		not specified	Uncertain significance (Jul 09, 2021)
2-96327701-G-C		not specified	Uncertain significance (Mar 23, 2022)
2-96327709-C-T		not specified	Uncertain significance (Oct 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ITPRIPL1	protein_coding	protein_coding	ENST00000361124	1	3023

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.88e-10	0.125	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.526	298	325	0.918	0.0000188	3700
Missense in Polyphen		129	129.21	0.99837		1532
Synonymous	1.73	105	130	0.807	0.00000681	1156
Loss of Function	0.392	16	17.8	0.900	0.00000115	178

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.986
• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.91

Haploinsufficiency Scores

• pHI: 0.270
• hipred: N
• hipred_score: 0.170
• ghis: 0.501

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0258

Mouse Genome Informatics

• Gene name: Itpripl1

Gene ontology

• Cellular component: membrane;integral component of membrane
• Molecular function: protein binding