PIP

prolactin induced protein

Basic information

Region (hg38): 7:143132077-143139739

Links

ENSG00000159763 ∙ NCBI:5304 ∙ OMIM:176720 ∙ HGNC:8993 ∙ Uniprot:P12273 ∙ 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 PIP gene.

• not_specified (14 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002652.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			11	4	1	16
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	13	4	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PIP	protein_coding	protein_coding	ENST00000291009	4	7670

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125617	3	116	125736	0.000473

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.189	89	84.1	1.06	0.00000478	952
Missense in Polyphen		27	26.802	1.0074		300
Synonymous	-0.0510	31	30.6	1.01	0.00000157	284
Loss of Function	0.318	5	5.83	0.858	3.45e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00136	0.00136
Finnish	0.00199	0.00194
European (Non-Finnish)	0.000326	0.000317
Middle Eastern	0.00136	0.00136
South Asian	0.0000655	0.0000653
Other	0.00245	0.00228

dbNSFP

Source: dbNSFP

• Pathway: Transport of small molecules;Miscellaneous transport and binding events (Consensus)

Intolerance Scores

• loftool: 0.666
• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.47

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.147

Gene Damage Prediction

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

Gene ontology

• Biological process: detection of chemical stimulus involved in sensory perception of bitter taste;retina homeostasis;proteolysis;positive regulation of gene expression;transmembrane transport;negative regulation of T cell apoptotic process
• Cellular component: extracellular region;extracellular space;nucleus;extracellular exosome
• Molecular function: actin binding;aspartic-type endopeptidase activity;protein binding;IgG binding;protein dimerization activity