Gene
RNU7-1
RNA, U7 small nuclear 1
- HGNC 34033↗(opens in a new tab)
- Ensembl gene ENSG00000238923↗(opens in a new tab)
- NCBI Gene 100147744↗(opens in a new tab)
Summary
- Cytogenetic location
- 12p13.31
- Coordinates
- Chromosome 12: 6,943,816–6,943,878 (GRCh38)
- Exons
- 1 exon across 0.1 kb
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- U7.1
- Previous symbols
- RNU7
- MANE Select transcript
- ENST00000458811.1NR_023317.1
- Locus type
- RNA, small nuclear
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Get my Genome TestCurated reports relevant to this gene
Aicardi-Goutieres Syndrome
- Autosomal recessive
Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.
- 2 GenCC submitters rate it definitive or strong
Rare Monogenic Autoinflammatory Diseases
- PTPN2-related autoinflammation and autoimmunityAutosomal dominant
Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.
- 2 GenCC submitters rate it definitive or strong
Broader groupings
Other Inborn Errors of Immunity
- Inborn error of immunity
One of 114 genes linked to it
Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.
- 2 GenCC submitters rate it definitive or strong
Other Inherited Leukodystrophies
- Leukodystrophy (other and unspecified types)
One of 80 genes linked to it
Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How RNU7-1 is laid out
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 0.1 kb of the gene's 0.1 kb.
How a genome test reads RNU7-1
4
positions in RNU7-1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 0.1 kb of RNU7-1, introns included, not only the 0.1 kb of exons.
Genes linked to the same conditions
- ADARadenosine deaminase RNA specificShares 4 conditions
- IFIH1interferon induced with helicase C domain 1Shares 4 conditions
- RNASEH2Aribonuclease H2 subunit AShares 4 conditions
- RNASEH2Bribonuclease H2 subunit BShares 4 conditions
- RNASEH2Cribonuclease H2 subunit CShares 4 conditions
- SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1Shares 4 conditions
- TREX1three prime repair exonuclease 1Shares 4 conditions
- SKIC2SKI2 subunit of superkiller complexShares 2 conditions
- SKIC3SKI3 subunit of superkiller complexShares 2 conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- AARS2alanyl-tRNA synthetase 2, mitochondrialShares 1 condition
- ABCD1ATP binding cassette subfamily D member 1Shares 1 condition
Traits linked to RNU7-1
The Human Phenotype Ontology lists these as features of the rare conditions RNU7-1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Arrhinencephaly
- Cavity within brain
- IQ less than 20
- Multifocal cerebral white matter abnormalities
- Abnormal gait
- Abnormality of extrapyramidal motor function
- Brain degeneration
Show 25 more traits
- Chronic CSF lymphocytosis
- Dystonia
- Epilepsy
- Irritability
- Leukodystrophy
- Loss of developmental milestones
- Loss of speech
- Paralysis or weakness of one side of body
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Abnormal pyramidal sign
- Absent speech development
- Damage to nerves that sense feeling
- Degeneration of cerebrum
- Delayed CNS myelination
- Delayed speech and language development
- Demyelinating peripheral neuropathy
- Difficulty sleeping
- Diffuse leukoencephalopathy
- Headache
- Lateral ventricle dilatation
- Peripheral neuropathy
- Self-mutilation
- Tremor
- Degeneration of the striatum
External links
Gene records
Transcript
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RNU7-1 gene: RNA, U7 small nuclear 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/rnu7-1
Dante Labs. RNU7-1 gene: RNA, U7 small nuclear 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rnu7-1
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