CYP2U1-AS1

CYP2U1 and SGMS2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:107863473-107989761

Links

ENSG00000245293 ∙ NCBI:101929595 ∙ ∙ HGNC:54817 ∙ ∙ ∙ 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 CYP2U1-AS1 gene.

• Spastic paraplegia (192 variants)
• not provided (114 variants)
• Hereditary spastic paraplegia 56 (31 variants)
• Inborn genetic diseases (29 variants)
• Hereditary spastic paraplegia (29 variants)
• not specified (6 variants)
• Calvarial doughnut lesions-bone fragility syndrome (3 variants)
• Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia (2 variants)
• See cases (2 variants)
• SGMS2-related condition (2 variants)
• CYP2U1-related condition (2 variants)
• Hyperinsulinemic hypoglycemia, familial, 4 (1 variants)
• Neurodegeneration;Global developmental delay (1 variants)
• Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia (1 variants)
• Seizure;Lower limb spasticity;Intellectual disability (1 variants)
• Abnormality of the nervous system (1 variants)
• Hereditary spastic paraplegia 5A (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP2U1-AS1 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)			1		1	2
splice region						0
non coding	24	19	156	108	30	337
Total	24	19	157	108	31

Highest pathogenic variant AF is 0.0000329

Variants in CYP2U1-AS1

This is a list of pathogenic ClinVar variants found in the CYP2U1-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-107895554-A-G			Uncertain significance (Sep 28, 2023)
4-107895564-T-C			Uncertain significance (Apr 24, 2023)
4-107895570-C-T			Uncertain significance (Mar 18, 2023)
4-107895572-G-C		Inborn genetic diseases	Uncertain significance (Jul 17, 2023)
4-107895573-C-A			Uncertain significance (Jul 18, 2022)
4-107895583-A-C		Inborn genetic diseases	Uncertain significance (Mar 15, 2024)
4-107895603-C-T		Inborn genetic diseases	Uncertain significance (Feb 05, 2024)
4-107895606-G-A		Inborn genetic diseases	Likely benign (Dec 28, 2022)
4-107895615-C-T			Benign (Jan 13, 2024)
4-107895616-G-A			Likely benign (Oct 08, 2022)
4-107895622-T-G			Benign (Aug 23, 2023)
4-107895634-C-T			Likely benign (Nov 22, 2023)
4-107895635-G-A			Uncertain significance (Aug 19, 2023)
4-107895669-A-G			Uncertain significance (Oct 16, 2022)
4-107895672-G-A			Uncertain significance (Jun 05, 2022)
4-107895676-A-G			Uncertain significance (Jun 30, 2023)
4-107895701-C-T		Calvarial doughnut lesions-bone fragility syndrome • Inborn genetic diseases • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia	Pathogenic/Likely pathogenic (Mar 25, 2024)
4-107895702-G-A			Uncertain significance (Aug 11, 2023)
4-107895711-C-A			Uncertain significance (Apr 25, 2023)
4-107895712-C-T			Likely benign (Jul 03, 2023)
4-107895714-A-G			Likely benign (Oct 24, 2023)
4-107895720-A-T			Uncertain significance (Jan 07, 2020)
4-107895723-C-T		Inborn genetic diseases	Uncertain significance (Sep 06, 2022)
4-107895724-G-A		Calvarial doughnut lesions-bone fragility syndrome • SGMS2-related disorder	Benign/Likely benign (Jan 24, 2024)
4-107895724-G-C			Likely benign (Nov 28, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP