ITPRIPL2

ITPRIP like 2

Basic information

Region (hg38): 16:19113932-19121629

Links

ENSG00000205730 ∙ NCBI:162073 ∙ ∙ HGNC:27257 ∙ Uniprot:Q3MIP1 ∙ 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 ITPRIPL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITPRIPL2 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			40			40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	1	0

Variants in ITPRIPL2

This is a list of pathogenic ClinVar variants found in the ITPRIPL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-19114571-G-C		not specified	Uncertain significance (Feb 28, 2024)
16-19114582-G-T		not specified	Uncertain significance (Mar 28, 2024)
16-19114600-G-A		not specified	Uncertain significance (Apr 08, 2024)
16-19114607-C-T		not specified	Uncertain significance (Jan 04, 2024)
16-19114691-G-T		not specified	Uncertain significance (Oct 05, 2023)
16-19114714-G-C		not specified	Uncertain significance (Jan 22, 2024)
16-19114748-G-A		not specified	Uncertain significance (Jun 10, 2024)
16-19114793-T-A		not specified	Uncertain significance (Dec 04, 2024)
16-19114835-G-A		not specified	Uncertain significance (Sep 02, 2024)
16-19114967-G-C		not specified	Uncertain significance (Jul 13, 2022)
16-19115099-C-G		not specified	Uncertain significance (Jun 30, 2023)
16-19115129-G-A		not specified	Uncertain significance (Feb 17, 2022)
16-19115171-G-T		not specified	Uncertain significance (Nov 10, 2021)
16-19115195-A-T		not specified	Uncertain significance (Feb 28, 2024)
16-19115207-C-T		not specified	Uncertain significance (May 30, 2024)
16-19115218-C-A		not specified	Uncertain significance (Aug 30, 2021)
16-19115228-A-G		not specified	Uncertain significance (May 27, 2022)
16-19115229-G-T		not specified	Uncertain significance (Mar 31, 2023)
16-19115261-G-T		not specified	Uncertain significance (Jun 10, 2024)
16-19115317-C-T		not specified	Uncertain significance (Nov 12, 2021)
16-19115428-G-T		not specified	Uncertain significance (Dec 15, 2023)
16-19115438-C-G		not specified	Uncertain significance (Aug 02, 2021)
16-19115438-C-T		not specified	Uncertain significance (Sep 16, 2021)
16-19115452-A-T		not specified	Uncertain significance (Aug 10, 2021)
16-19115489-C-G		not specified	Uncertain significance (May 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ITPRIPL2	protein_coding	protein_coding	ENST00000381440	1	7693

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000154	0.882	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.59	264	347	0.760	0.0000234	3274
Missense in Polyphen		108	159.66	0.67644		1537
Synonymous	1.62	135	161	0.838	0.0000104	1270
Loss of Function	1.42	8	13.7	0.584	7.28e-7	139

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

Intolerance Scores

• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.48

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.375
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.645

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Itpripl2

Gene ontology

• Cellular component: integral component of membrane