IRF1-AS1

IRF1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:132410636-132488702

Previous symbols: [ "C5orf56" ]

Links

ENSG00000197536 ∙ NCBI:441108 ∙ ∙ HGNC:33838 ∙ Uniprot:Q8N8D9 ∙ 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 IRF1-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IRF1-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)						0
splice region						0
non coding			8		14	22
Total	0	0	8	0	14

Variants in IRF1-AS1

This is a list of pathogenic ClinVar variants found in the IRF1-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
5-132484052-G-A		not specified	Uncertain significance (Jun 29, 2022)
5-132484106-T-C		not specified	Benign (Jan 24, 2024)
5-132484108-G-A		not specified	Benign (Jan 24, 2024)
5-132484229-C-A		not specified	Benign (Jan 24, 2024)
5-132484278-T-C		not specified	Benign (Jan 24, 2024)
5-132484285-C-T		not specified	Benign (Jan 24, 2024)
5-132484497-G-T		not specified	Uncertain significance (May 06, 2024)
5-132484499-T-C			not provided (-)
5-132484583-C-A		not specified	Benign (Jan 24, 2024)
5-132485554-G-A		not specified	Benign (Jan 24, 2024)
5-132486174-T-G		not specified	Benign (Jan 24, 2024)
5-132486338-C-T		not specified	Uncertain significance (May 01, 2024)
5-132486363-T-C		not specified	Benign (Jan 24, 2024)
5-132486380-A-G		not specified	Benign (Jan 24, 2024)
5-132486441-T-C		not specified	Benign (Jan 24, 2024)
5-132486532-T-C		not specified	Benign (Jan 24, 2024)
5-132486577-A-G		not specified	Uncertain significance (Aug 02, 2021)
5-132486667-G-A		not specified	Uncertain significance (Jul 28, 2021)
5-132486696-G-A		IRF1-related disorder	Likely benign (Jun 10, 2019)
5-132486824-G-A		Immunodeficiency 117	Pathogenic (Jan 10, 2024)
5-132486835-G-A		not specified	Uncertain significance (Jun 13, 2024)
5-132486846-T-C			not provided (-)
5-132486961-C-G		not specified	Uncertain significance (May 26, 2022)
5-132486973-G-C			Benign (Jun 20, 2018)
5-132487031-T-C		not specified	Uncertain significance (Dec 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IRF1-AS1	protein_coding	protein_coding	ENST00000337752	3	65409

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00417	0.439	125743	0	3	125746	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.893	42	61.7	0.680	0.00000282	826
Missense in Polyphen		1	1.645	0.60792		22
Synonymous	0.223	23	24.4	0.943	0.00000125	220
Loss of Function	-0.409	3	2.33	1.29	9.86e-8	27

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00000895	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.509

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium