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

Gene ID: 100507266, updated on 10-Oct-2023

Summary

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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

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See STX18-AS1 in Genome Data Viewer
Location:
4p16.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (4542131..4710938)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (4511705..4680553)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (4543858..4712665)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene syntaxin 18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21229 Neighboring gene VISTA enhancer hs746 Neighboring gene uncharacterized LOC107986254 Neighboring gene ribosomal protein S7 pseudogene 15 Neighboring gene Sharpr-MPRA regulatory region 11878 Neighboring gene uncharacterized LOC124900165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15215 Neighboring gene long intergenic non-protein coding RNA 3091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4584074-4584574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4611951-4612940 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:4641873-4642792 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:4643711-4644628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4652800-4653697 Neighboring gene NFE2L2 motif-containing MPRA enhancer 85 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4666938-4667438 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:4668341-4668936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:4672506-4673099 Neighboring gene small nucleolar RNA, C/D box 162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21231 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:4760651-4761066 Neighboring gene uncharacterized LOC101928279 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:4764243-4765442 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:4782258-4783457 Neighboring gene Sharpr-MPRA regulatory region 11147 Neighboring gene long intergenic non-protein coding RNA 1396

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Cordell HJ, et al. Nat Genet, 2013 Jul. PMID 23708191, Free PMC Article
  2. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). Hart AB, et al. PLoS One, 2012. PMID 22952603, Free PMC Article
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

GeneRIFs: Gene References Into Functions

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
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

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.

RNA

  1. NR_037888.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC109359, BC025734, DA139592
    Related
    ENST00000610009.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    4542131..4710938
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    4511705..4680553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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