CYP17A1-AS1

Summary

CYP17A1-AS1 (CYP17A1 antisense RNA 1, HGNC:31671) is a long non-coding RNA gene on chromosome 10q24.32.

At a glance

• Clinical variants (ClinVar): 16 total — 2 pathogenic, 4 likely-pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31671
Approved symbol	CYP17A1-AS1
Name	CYP17A1 antisense RNA 1
Location	10q24.32
Locus type	RNA, long non-coding
Status	Approved
Aliases	bA753C18.3
Entrez	102724307

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

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	4
Uncertain significance	1
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1072158	NM_000102.4(CYP17A1):c.691A>T (p.Lys231Ter)	Pathogenic
1417434	NM_000102.4(CYP17A1):c.849del (p.Ser284fs)	Pathogenic
2439628	NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)	Likely pathogenic
2681099	NM_000102.4(CYP17A1):c.946dup (p.Ala316fs)	Likely pathogenic
4817442	NM_000102.4(CYP17A1):c.731dup (p.Asn244fs)	Likely pathogenic
4817443	NM_000102.4(CYP17A1):c.774del (p.Ile259fs)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1002671434 (10:102831234 C>T), RS1003588293 (10:102831975 T>A), RS1004467 (10:102834750 A>C,G,T), RS1005529730 (10:102830797 C>T), RS1005579871 (10:102831267 G>C), RS1006656424 (10:102834545 T>C), RS1006661223 (10:102831917 G>A), RS1007600587 (10:102834511 G>A,C), RS1007761071 (10:102832352 G>T), RS1009886525 (10:102834495 C>G,T), RS1012290248 (10:102832009 C>A,T), RS1013290257 (10:102833797 G>T), RS1014470475 (10:102833338 AC>A), RS1014906356 (10:102831936 C>G), RS1015969603 (10:102831621 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:202110

GenCC curated gene-disease

Mondo (1): congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (MONDO:0008730)

Orphanet (1): Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (Orphanet:90793)

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Propofol	decreases expression	1

Clinical trials (associated diseases)

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