SNORD75

Summary

SNORD75 (small nucleolar RNA, C/D box 75, HGNC:32735) is a gene on chromosome 1q25.1.

Predicted to be involved in RNA processing. Predicted to be located in nucleolus.

Source: NCBI Gene 692195 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total — 1 pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32735
Approved symbol	SNORD75
Name	small nucleolar RNA, C/D box 75
Location	1q25.1
Locus type	RNA, small nucleolar
Status	Approved
Aliases	U75
Entrez	692195
RNAcentral	URS000026D828 — snoRNA, 60 nt, 8 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

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1321889	NC_000001.11:g.173859535_173926473del	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000056001 (1:173867389 G>A), RS1000127752 (1:173867669 A>G), RS1000247329 (1:173868599 C>G,T), RS1000450082 (1:173868415 G>A), RS1000500475 (1:173868214 T>G), RS1000607514 (1:173867847 G>A,C), RS1000640330 (1:173867622 A>C,G), RS1001991899 (1:173867957 T>A,C), RS1002425896 (1:173868021 A>G), RS1003834470 (1:173868797 C>G,T), RS1004349924 (1:173868048 G>C), RS1004688779 (1:173867221 A>G), RS1004780584 (1:173867379 G>A), RS1005355003 (1:173868815 AT>A), RS1006296444 (1:173868772 G>C,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:613118

GenCC curated gene-disease

Mondo (1): hereditary antithrombin deficiency (MONDO:0013144)

Orphanet (1): Hereditary thrombophilia due to congenital antithrombin deficiency (Orphanet:82)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020152	Antithrombin III Deficiency	C15.378.100.100.075; C15.378.147.150; C15.378.925.075; C16.320.099.075

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
securinine	increases expression	1
bisphenol A	decreases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment, increases expression	1
Air Pollutants, Occupational	increases expression	1
Nickel	increases expression	1
Valproic Acid	decreases methylation	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02278575	PHASE4	WITHDRAWN	Atenativ Effect on Uterine Blood Flow and Preeclampsia
NCT00110513	PHASE3	COMPLETED	Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery
NCT04918173	PHASE3	RECRUITING	Efficacy of Atenativ in Patients With Congenital Antithrombin Deficiency Undergoing Surgery or Delivery
NCT06096116	PHASE3	RECRUITING	Phase 3 Study on the Efficacy and Safety of Human Plasma Derived Antithrombin (Atenativ) in Heparin-Resistant Patients Scheduled to Undergo Cardiac Surgery Necessitating Cardiopulmonary Bypass
NCT00823082	PHASE2	COMPLETED	Use of Antithrombin in Cardiac Surgery With Cardiopulmonary Bypass
NCT04899232	PHASE2	TERMINATED	Antithrombin III in Infectious Disease Caused by COVID-19
NCT00938288	PHASE1	COMPLETED	A Study of KW-3357 in Congenital Antithrombin Deficiency
NCT00319228	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Safety, Pharmacokinetics and Efficacy of an ATIII Concentrate
NCT03090893	EARLY_PHASE1	WITHDRAWN	Response of Continuous Recombinant Antithrombin Infusion in Postcardiotomy ECMO Patients
NCT02503267	Not specified	UNKNOWN	Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects
NCT04879550	Not specified	COMPLETED	Prospective Investigation of Antithrombin III Deficiency in Adult Patients With ECMO
NCT05891899	Not specified	NOT_YET_RECRUITING	Belgian Antithrombin Deficiency Registry