PISRT1 PISRT1 lncRNA [Homo sapiens (human)] - Gene

Summary

Official Symbol: PISRT1provided by HGNC
Official Full Name: PISRT1 lncRNAprovided by HGNC
Primary source: HGNC:HGNC:16671
See related: AllianceGenome:HGNC:16671
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NCRNA00195
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Genomic context

Location:: 3q23

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (139232992..139233522, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (141974508..141975038, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (138951834..138952364, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We describe a girl and her father with isolated BPES without an intragenic mutation in FOXL2. MLPA of a FOXL2 enhancer region identified a small microdeletion at 234 kb upstream of FOXL2. This deletion fully includes the PISRT1 gene, a noncoding gene which is part of a cis-regulatory element of FOXL2
Title: Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element.
The novel deletion found could be involved in FOXL2 regulation and constitutes the smallest deletion described in a female with Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).
Title: Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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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Other Names

polled intersex syndrome regulated transcript 1 (non-protein coding RNA)
polled intersex syndrome regulated transcript 1 homolog (goat)

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.