SNORD130

Summary

SNORD130 (small nucleolar RNA, C/D box 130, HGNC:50411) is a gene on chromosome 10p12.1.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:50411
Approved symbol	SNORD130
Name	small nucleolar RNA, C/D box 130
Location	10p12.1
Locus type	RNA, small nucleolar
Status	Approved
Entrez	106635548
RNAcentral	URS00008E3990 — snoRNA, 142 nt, 1 organism(s)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1002948193 (10:28074284 CTTTT>C,CTT,CTTT,CTTTTT,CTTTTTT), RS1003174792 (10:28074500 G>A), RS1004402944 (10:28075206 C>G,T), RS1004681077 (10:28074213 G>A,T), RS1005137217 (10:28073906 C>G), RS1006192629 (10:28074605 C>A,G,T), RS1006423408 (10:28073119 G>T), RS1006764207 (10:28072850 A>G), RS1006906889 (10:28073624 G>A), RS1007143006 (10:28072890 T>A,C), RS1011931927 (10:28074284 C>A,G), RS1012047938 (10:28074486 C>T), RS1013517386 (10:28074231 T>C), RS1013736365 (10:28073150 C>G), RS1014101123 (10:28072816 C>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

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: 0 entries

Clinical trials (associated diseases)

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