FAM247D

Summary

FAM247D (family with sequence similarity 247 member D, HGNC:54929) is a long non-coding RNA gene on chromosome 22q11.21.

At a glance

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

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:54929
Approved symbol	FAM247D
Name	family with sequence similarity 247 member D
Location	22q11.21
Locus type	RNA, long non-coding
Status	Approved
Entrez	105372942

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
150466	GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1002087059 (22:18356575 G>C), RS1002895507 (22:18355726 A>AT), RS1005441937 (22:18358753 C>A), RS1006478762 (22:18351143 C>G), RS1007661601 (22:18358474 C>A), RS1007747249 (22:18360315 C>G), RS1011588842 (22:18357434 G>T), RS1016073452 (22:18351196 C>T), RS1017870963 (22:18358806 A>G), RS1018152337 (22:18360371 A>G), RS1021739320 (22:18356685 T>C), RS1022125599 (22:18355853 T>C), RS1025293557 (22:18358076 A>G), RS1026565847 (22:18360847 C>T), RS1030363344 (22:18358201 T>C)

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.