SOX1-OT

SOX1 overlapping transcript, the group of Overlapping transcripts

Basic information

Region (hg38): 13:112056845-112110570

Previous symbols: [ "LINC00403" ]

Links

ENSG00000224243 ∙ NCBI:100505996 ∙ ∙ HGNC:42733 ∙ ∙ ∙ 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 SOX1-OT gene.

• Inborn genetic diseases (19 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SOX1-OT 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			19	2	3	24
Total	0	0	19	2	3

Variants in SOX1-OT

This is a list of pathogenic ClinVar variants found in the SOX1-OT region.

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

Position	Type	Phenotype	Significance	ClinVar
13-112067678-A-C		not specified	Uncertain significance (Apr 25, 2023)
13-112067685-C-T			Benign (Jul 23, 2018)
13-112067705-C-T		not specified	Uncertain significance (Jan 03, 2024)
13-112067739-G-C		SOX1-related disorder	Likely benign (Nov 17, 2020)
13-112067742-G-C		SOX1-related disorder	Likely benign (Nov 17, 2020)
13-112067770-G-A		not specified	Uncertain significance (Apr 22, 2022)
13-112067772-CGGCGGCGGCGGG-C		SOX1-related disorder	Likely benign (Mar 09, 2021)
13-112067785-G-T		not specified	Uncertain significance (Jun 07, 2024)
13-112067786-G-A		not specified	Uncertain significance (Oct 06, 2021)
13-112068036-C-T			Benign (Dec 31, 2019)
13-112068041-C-T		not specified	Uncertain significance (Aug 09, 2021)
13-112068046-C-T		not specified	Uncertain significance (Jun 17, 2024)
13-112068140-T-C		not specified	Uncertain significance (Mar 21, 2022)
13-112068181-G-A		not specified	Uncertain significance (Sep 26, 2023)
13-112068205-C-T		not specified	Uncertain significance (Sep 17, 2021)
13-112068207-C-A		not specified	Uncertain significance (Mar 27, 2024)
13-112068323-C-G		not specified	Uncertain significance (Mar 30, 2024)
13-112068326-A-C		not specified	Uncertain significance (Nov 02, 2021)
13-112068332-A-C		not specified	Uncertain significance (Nov 02, 2021)
13-112068338-A-C		not specified	Uncertain significance (Jan 10, 2022)
13-112068343-GCGCACC-G			Likely benign (Jan 01, 2023)
13-112068362-A-C		not specified	Uncertain significance (Aug 10, 2021)
13-112068370-G-GCGCACC		SOX1-related disorder	Benign (Oct 31, 2019)
13-112068394-A-G		not specified	Uncertain significance (May 02, 2024)
13-112068446-A-G		not specified	Uncertain significance (Aug 08, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Sox1ot