STX18-AS1 STX18 antisense RNA 1 (head to head) [Homo sapiens (human)] - Gene

Summary

Official Symbol: STX18-AS1provided by HGNC
Official Full Name: STX18 antisense RNA 1 (head to head)provided by HGNC
Primary source: HGNC:HGNC:48877
See related: Ensembl:ENSG00000247708 AllianceGenome:HGNC:48877
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression: Broad expression in testis (RPKM 1.2), ovary (RPKM 0.6) and 24 other tissues See more
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Genomic context

Location:: 4p16.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (4542131..4710938)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (4511705..4680553)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (4543858..4712665)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

SHGC-50397 (e-PCR)
- UniSTS:73999

SHGC-59171 (e-PCR)
- UniSTS:78

SHGC-142260 (e-PCR)
- UniSTS:171351

SHGC-68200 (e-PCR)
- UniSTS:3760

AFMa348xa5 (e-PCR)
- UniSTS:49100

SHGC-59847 (e-PCR)
- UniSTS:24529

A009B19 (e-PCR)
- UniSTS:26325

D4S1361 (e-PCR)
- UniSTS:37348

G32381 (e-PCR)
- UniSTS:116969

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.