PIANP

PILR alpha associated neural protein

Basic information

Region (hg38): 12:6693791-6700815

Previous symbols: [ "C12orf53" ]

Links

ENSG00000139200 ∙ NCBI:196500 ∙ OMIM:616065 ∙ HGNC:25338 ∙ Uniprot:Q8IYJ0 ∙ 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 PIANP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIANP 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			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	0

Variants in PIANP

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

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

Position	Type	Phenotype	Significance	ClinVar
12-6695452-C-T		not specified	Uncertain significance (Nov 24, 2024)
12-6695490-C-G		not specified	Uncertain significance (Dec 25, 2024)
12-6695490-C-T		not specified	Uncertain significance (May 08, 2024)
12-6695497-C-T		not specified	Uncertain significance (Jun 26, 2023)
12-6695504-G-T		not specified	Uncertain significance (Nov 17, 2022)
12-6695508-G-A		not specified	Uncertain significance (Dec 21, 2021)
12-6695513-G-A			Likely benign (Jul 01, 2022)
12-6695553-C-T		not specified	Uncertain significance (Nov 09, 2023)
12-6695641-T-A		not specified	Uncertain significance (Apr 08, 2024)
12-6695643-C-T		not specified	Uncertain significance (May 09, 2024)
12-6696483-T-C		not specified	Uncertain significance (Dec 31, 2024)
12-6697317-G-A		not specified	Uncertain significance (May 09, 2023)
12-6697364-C-T		not specified	Uncertain significance (Jul 09, 2021)
12-6697382-G-C		not specified	Uncertain significance (May 14, 2024)
12-6697385-T-C		not specified	Uncertain significance (Jun 11, 2024)
12-6697386-G-A		not specified	Uncertain significance (Feb 12, 2025)
12-6697403-T-C		not specified	Uncertain significance (Dec 05, 2024)
12-6697409-G-T		not specified	Uncertain significance (Oct 04, 2024)
12-6697412-G-A		not specified	Uncertain significance (Aug 30, 2021)
12-6697520-G-A		not specified	Uncertain significance (Mar 08, 2025)
12-6697533-A-G		not specified	Uncertain significance (Mar 07, 2025)
12-6697569-G-T		not specified	Uncertain significance (Nov 28, 2024)
12-6697595-C-T		not specified	Uncertain significance (Jul 09, 2021)
12-6697596-G-A		not specified	Uncertain significance (Jun 01, 2022)
12-6697622-C-T		not specified	Uncertain significance (Dec 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PIANP	protein_coding	protein_coding	ENST00000540656	5	7009

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.378	0.620	124611	0	4	124615	0.0000161

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.951	127	161	0.789	0.00000975	1714
Missense in Polyphen		11	16.96	0.64859		155
Synonymous	0.951	57	66.9	0.852	0.00000382	666
Loss of Function	2.64	3	13.5	0.223	9.17e-7	123

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)	0.0000357	0.0000354
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a ligand for PILRA in neural tissues, where it may be involved in immune regulation. {ECO:0000269|PubMed:21241660}.
• Pathway: Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• pHI: 0.262
• hipred: Y
• hipred_score: 0.593
• ghis: 0.618

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pianp

Gene ontology

• Biological process: regulation of immune response
• Cellular component: plasma membrane;adherens junction;integral component of membrane;basolateral plasma membrane