IPP

intracisternal A particle-promoted polypeptide, the group of BTB domain containing|Kelch like

Basic information

Region (hg38): 1:45694324-45750653

Links

ENSG00000197429 ∙ NCBI:3652 ∙ OMIM:147485 ∙ HGNC:6108 ∙ Uniprot:Q9Y573 ∙ 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 IPP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IPP 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			39			39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	0	0

Variants in IPP

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

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

Position	Type	Phenotype	Significance	ClinVar
1-45699980-C-T		not specified	Uncertain significance (Feb 28, 2024)
1-45699982-C-T		not specified	Uncertain significance (May 15, 2023)
1-45699994-C-T		not specified	Uncertain significance (Apr 06, 2023)
1-45700037-G-A		not specified	Uncertain significance (Apr 25, 2023)
1-45700045-T-C		not specified	Uncertain significance (Feb 15, 2023)
1-45700139-C-A		not specified	Uncertain significance (Dec 09, 2023)
1-45700165-A-G		not specified	Uncertain significance (Jan 08, 2024)
1-45700184-A-G		not specified	Uncertain significance (Oct 21, 2024)
1-45714365-T-C		not specified	Uncertain significance (Jun 21, 2019)
1-45714374-G-A		not specified	Uncertain significance (Aug 28, 2024)
1-45714386-G-A		not specified	Uncertain significance (Feb 27, 2025)
1-45714457-T-C		not specified	Uncertain significance (Mar 19, 2024)
1-45716924-C-T		not specified	Uncertain significance (Dec 15, 2022)
1-45716967-C-T		not specified	Uncertain significance (May 26, 2024)
1-45716978-C-A		not specified	Uncertain significance (Jan 23, 2025)
1-45716984-A-G		not specified	Uncertain significance (Oct 03, 2022)
1-45719206-A-T		not specified	Uncertain significance (Mar 31, 2022)
1-45719251-G-A		not specified	Uncertain significance (Dec 21, 2022)
1-45719265-G-A		not specified	Uncertain significance (Aug 11, 2024)
1-45719268-G-A		not specified	Uncertain significance (Dec 16, 2022)
1-45727690-T-C		not specified	Uncertain significance (Jul 25, 2023)
1-45727699-G-A		not specified	Uncertain significance (Oct 08, 2024)
1-45727786-C-T		not specified	Uncertain significance (Jul 23, 2024)
1-45727793-A-G		not specified	Uncertain significance (Jun 01, 2023)
1-45729686-T-G		not specified	Uncertain significance (Jul 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IPP	protein_coding	protein_coding	ENST00000396478	8	56327

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000210	0.999	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.495	293	318	0.922	0.0000161	3806
Missense in Polyphen		102	119.3	0.85499		1361
Synonymous	-0.590	114	106	1.07	0.00000504	1126
Loss of Function	2.88	13	30.1	0.432	0.00000172	343

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000485	0.000485
Ashkenazi Jewish	0.00	0.00
East Asian	0.000392	0.000381
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.000392	0.000381
South Asian	0.000231	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in organizing the actin cytoskeleton.

Recessive Scores

• pRec: 0.203

Intolerance Scores

• loftool: 0.525
• rvis_EVS: -0.53
• rvis_percentile_EVS: 20.7

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.443
• ghis: 0.586

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.640

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ipp
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Cellular component: cytoplasm;actin cytoskeleton
• Molecular function: actin binding