APTR

Alu-mediated CDKN1A/p21 transcriptional regulator, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 7:77657659-77697074

Previous symbols: [ "RSBN1L-AS1" ]

Links

ENSG00000214293 ∙ NCBI:100505854 ∙ OMIM:616048 ∙ HGNC:44173 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the APTR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APTR gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in APTR

This is a list of pathogenic ClinVar variants found in the APTR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-77696479-C-T		not specified	Uncertain significance (Apr 25, 2024)
7-77696483-C-G		not specified	Uncertain significance (Dec 04, 2021)
7-77696495-A-T		not specified	Uncertain significance (Jan 25, 2023)
7-77696512-G-T		not specified	Uncertain significance (Jun 19, 2024)
7-77696519-C-A		not specified	Uncertain significance (May 18, 2022)
7-77696519-C-T		not specified	Uncertain significance (Jan 04, 2024)
7-77696521-G-A		not specified	Uncertain significance (Mar 14, 2023)
7-77696559-A-G		not specified	Likely benign (Oct 30, 2023)
7-77696581-G-C		not specified	Uncertain significance (Feb 23, 2023)
7-77696585-C-G		not specified	Uncertain significance (Aug 02, 2021)
7-77696591-C-T		not specified	Uncertain significance (Jun 17, 2024)
7-77696659-G-A		not specified	Uncertain significance (Apr 25, 2022)
7-77696669-G-C		not specified	Uncertain significance (Aug 19, 2023)
7-77696678-A-G		not specified	Uncertain significance (Feb 28, 2023)
7-77696794-G-T		not specified	Uncertain significance (Aug 17, 2022)
7-77696798-C-T		not specified	Uncertain significance (Sep 14, 2021)
7-77696864-C-T		not specified	Uncertain significance (Aug 03, 2022)
7-77696894-T-A		not specified	Uncertain significance (Aug 22, 2023)
7-77696918-C-T		not specified	Uncertain significance (Oct 13, 2023)
7-77696989-G-A		not specified	Uncertain significance (Nov 17, 2022)
7-77697020-G-A		not specified	Uncertain significance (Mar 28, 2024)
7-77697022-G-C		not specified	Uncertain significance (Oct 06, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP