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RNU7-1 RNA, U7 small nuclear 1 [ Homo sapiens (human) ]

Gene ID: 100147744, updated on 2-Nov-2024

Summary

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Official Symbol
RNU7-1provided by HGNC
Official Full Name
RNA, U7 small nuclear 1provided by HGNC
Primary source
HGNC:HGNC:34033
See related
Ensembl:ENSG00000238923 MIM:617876; AllianceGenome:HGNC:34033
Gene type
snRNA
RefSeq status
PROVISIONAL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AGS9; RNU7; U7.1
Summary
Implicated in Aicardi-Goutieres syndrome. [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

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See RNU7-1 in Genome Data Viewer
Location:
12p13.31
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6943816..6943878)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6954982..6955044)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7052979..7053041)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr12:7023548-7023738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7024095-7024736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7024737-7025376 Neighboring gene enolase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5891 Neighboring gene uncharacterized LOC124902868 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7033606-7034306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7035007-7035706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4194 Neighboring gene atrophin 1 Neighboring gene atrophin 1 repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:7052993-7053572 and GRCh37_chr12:7053573-7054152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7054402-7055012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7055013-7055621 Neighboring gene chromosome 12 open reading frame 57 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7059817-7060752 Neighboring gene protein tyrosine phosphatase non-receptor type 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7060753-7061686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7061687-7062621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7069919-7070720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7070721-7071520 Neighboring gene uncharacterized LOC105369634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7071521-7072322

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement. Naesens L, et al. J Clin Immunol, 2022 Jul. PMID 35320431, Free PMC Article
  2. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Uggenti C, et al. Nat Genet, 2020 Dec. PMID 33230297
  3. A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13. Ansari-Lari MA, et al. Genome Res, 1996 Apr. PMID 8723724
  4. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Ansari-Lari MA, et al. Genome Res, 1997 Mar. PMID 9074930
  5. U7 snRNAs: a computational survey. Marz M, et al. Genomics Proteomics Bioinformatics, 2007 Dec. PMID 18267300, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutieres Syndrome with Severe End-Organ Involvement.
    Title: Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
  2. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
    Title: cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Aicardi-Goutieres syndrome 9
MedGen: C5561966 OMIM: 619487 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Other Names

  • RNA, small nuclear U7
  • RNA, small nuclear U7.1

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_023317.1 RNA Sequence

    Status: PROVISIONAL

    Source sequence(s)
    U47924
    Related
    ENST00000458811.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    6943816..6943878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    6954982..6955044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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