ITPR3-AS1

Summary

ITPR3-AS1 (ITPR3 antisense RNA 1, HGNC:56127) is a long non-coding RNA gene on chromosome 6p21.31.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:56127
Approved symbol	ITPR3-AS1
Name	ITPR3 antisense RNA 1
Location	6p21.31
Locus type	RNA, long non-coding
Status	Approved
Entrez	101929188
RNAcentral	URS0000A7642C — lncRNA, 2176 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: 1 (showing top): chr6p21

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

80 predictions. Top by Δscore:

Variant	Effect	Δscore
6:33631538:C:A	acceptor_gain	0.9700
6:33631731:A:T	donor_gain	0.8500
6:33631536:ACC:A	acceptor_gain	0.8200
6:33631537:C:G	acceptor_gain	0.8200
6:33631412:ACAGG:A	acceptor_gain	0.7700
6:33631543:T:G	acceptor_gain	0.7300
6:33631536:A:AG	acceptor_gain	0.7100
6:33631863:C:A	donor_gain	0.7100
6:33631730:G:GT	donor_gain	0.6800
6:33631632:G:T	donor_gain	0.6700
6:33633460:G:GT	donor_gain	0.6700
6:33631636:GGTT:G	donor_gain	0.6400
6:33633490:G:T	donor_gain	0.6200
6:33631865:C:G	donor_gain	0.6100
6:33631411:TACAG:T	acceptor_gain	0.5800
6:33631547:C:G	acceptor_gain	0.5600
6:33631497:A:G	acceptor_gain	0.5500
6:33631546:ACTGC:A	acceptor_gain	0.5500
6:33632183:C:A	donor_gain	0.5400
6:33631418:TAGGC:T	acceptor_gain	0.5200
6:33631546:A:AG	acceptor_gain	0.5200
6:33631862:T:TA	donor_gain	0.5200
6:33631417:ATAGG:A	acceptor_gain	0.5100
6:33631548:T:A	acceptor_gain	0.5000
6:33631546:ACT:A	acceptor_gain	0.4900
6:33631735:G:GT	donor_gain	0.4900
6:33633510:G:A	donor_gain	0.4900
6:33631414:AGGAT:A	acceptor_gain	0.4500
6:33631542:A:AG	acceptor_gain	0.4500
6:33631415:GGATA:G	acceptor_gain	0.4400

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000760758 (6:33631048 C>A), RS1001608197 (6:33633714 G>A), RS1002561980 (6:33631677 T>C), RS1002800501 (6:33634096 C>A), RS1004662606 (6:33631608 A>C,G), RS1004853500 (6:33635020 C>T), RS1004898145 (6:33631392 G>T), RS1005442669 (6:33633676 G>A), RS1005576970 (6:33635480 G>A), RS1005804588 (6:33633424 C>T), RS1006407008 (6:33631861 G>C), RS1007125832 (6:33635333 T>A), RS1007397479 (6:33634700 G>A), RS1007847048 (6:33630874 C>T), RS1008382754 (6:33633362 A>T)

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.