RUSC1-AS1

RUSC1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:155316856-155324385

Previous symbols: [ "C1orf104" ]

Links

ENSG00000225855 ∙ NCBI:284618 ∙ ∙ HGNC:26680 ∙ Uniprot:Q66K80 ∙ AlphaFold ∙ 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 RUSC1-AS1 gene.

• Inborn genetic diseases (7 variants)
• not provided (4 variants)
• Porokeratosis 9, multiple types (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RUSC1-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
splice region						0
non coding	2	1	6	2		11
Total	2	1	7	2	0

Highest pathogenic variant AF is 0.0000395

Variants in RUSC1-AS1

This is a list of pathogenic ClinVar variants found in the RUSC1-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
1-155317996-G-A		Porokeratosis 9, multiple types	Pathogenic (Jul 23, 2015)
1-155318190-A-G		not specified	Uncertain significance (Jan 29, 2024)
1-155318194-A-G		not specified	Uncertain significance (Sep 25, 2024)
1-155318257-C-A		not specified	Uncertain significance (Aug 08, 2023)
1-155318264-C-T		FDPS-related disorder	Likely benign (Mar 12, 2021)
1-155318280-C-G		not specified	Uncertain significance (Jan 29, 2024)
1-155318292-G-A		Porokeratosis 9, multiple types	Pathogenic (Jul 23, 2015)
1-155318293-T-G			Likely pathogenic (Dec 26, 2019)
1-155318722-A-C		not specified	Uncertain significance (Dec 20, 2022)
1-155319613-A-G		FDPS-related disorder	Likely benign (Aug 29, 2020)
1-155319627-A-C		not specified	Uncertain significance (Jul 16, 2024)
1-155319633-A-C		not specified	Uncertain significance (Jan 03, 2024)
1-155319683-A-G		not specified	Uncertain significance (Dec 22, 2023)
1-155319855-A-C		not specified	Uncertain significance (Oct 16, 2023)
1-155319869-A-G		not specified	Uncertain significance (May 31, 2023)
1-155319915-A-C		not specified	Uncertain significance (Feb 16, 2023)
1-155320440-T-C		FDPS-related disorder	Benign (Apr 26, 2019)
1-155320529-C-G		not specified	Uncertain significance (Dec 04, 2024)
1-155320544-G-T		not specified	Likely benign (Dec 04, 2024)
1-155320550-C-A		not specified	Uncertain significance (Sep 10, 2024)
1-155321986-C-T			Likely benign (Sep 01, 2022)
1-155322113-C-G		not specified	Uncertain significance (Oct 12, 2021)
1-155322859-G-A			Likely benign (Sep 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Molecular function: protein binding