C5-OT1

Summary

C5-OT1 (C5 3’ UTR overlapping transcript 1, HGNC:53618) is a long non-coding RNA gene on chromosome 9q33.2.

At a glance

• Clinical variants (ClinVar): 2 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53618
Approved symbol	C5-OT1
Name	C5 3’ UTR overlapping transcript 1
Location	9q33.2
Locus type	RNA, long non-coding
Status	Approved
Aliases	C5T1lncRNA
Entrez	110599590
RNAcentral	URS0000BC45ED — lncRNA, 1924 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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	1
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): RS1000073578 (9:120942510 G>A,C), RS1000392791 (9:120942571 C>A), RS1000784312 (9:120949940 C>A,T), RS1000917272 (9:120949226 C>T), RS1001190718 (9:120950495 C>T), RS1001250448 (9:120950562 A>G), RS1001794362 (9:120943970 C>A,G), RS1002077256 (9:120945210 C>T), RS1002141952 (9:120943827 G>A), RS1002330424 (9:120948905 C>T), RS1002533134 (9:120945563 G>A,C), RS1002995345 (9:120952423 T>C), RS1003334432 (9:120944311 C>T), RS1003802798 (9:120947228 G>A), RS1003920297 (9:120942096 A>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.