PIRC66

Summary

PIRC66 (piwi-interacting RNA cluster 66, HGNC:37570) is a gene on chromosome 15.

At a glance

• Clinical variants (ClinVar): 66 total — 7 pathogenic, 6 likely-pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37570
Approved symbol	PIRC66
Name	piwi-interacting RNA cluster 66
Location	15
Locus type	RNA, cluster
Status	Approved
Entrez	100313865

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

66 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	6
Uncertain significance	18
Likely benign	21
Benign	7

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
17815	NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys)	Pathogenic
17817	NM_000103.4(CYP19A1):c.743+2T>C	Pathogenic
17819	NM_000103.4(CYP19A1):c.1224del (p.Lys409fs)	Pathogenic
17820	NM_000103.4(CYP19A1):c.296+1G>A	Pathogenic
17826	NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys)	Pathogenic
2099819	NM_000103.4(CYP19A1):c.712del (p.Ser238fs)	Pathogenic
639516	NM_000103.4(CYP19A1):c.1165A>T (p.Lys389Ter)	Pathogenic
17816	NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr)	Likely pathogenic
3577358	NM_000103.4(CYP19A1):c.145+2T>A	Likely pathogenic
4816265	NM_000103.4(CYP19A1):c.1021+1G>A	Likely pathogenic
4816266	NM_000103.4(CYP19A1):c.1124G>A (p.Arg375His)	Likely pathogenic
4816269	NM_000103.4(CYP19A1):c.1278C>G (p.Tyr426Ter)	Likely pathogenic
4816275	NM_000103.4(CYP19A1):c.672G>A (p.Trp224Ter)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene `` | disease phenotypes: MIM:613546, MIM:139300

GenCC curated gene-disease

Mondo (2): aromatase deficiency (MONDO:0013301), aromatase excess syndrome (MONDO:0007690)

Orphanet (2): Aromatase deficiency (Orphanet:91), Aromatase excess syndrome (Orphanet:178345)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C537436	Aromatase deficiency (supp.)
C000591739	familial gynecomastia, due to increased aromatase activity (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.