TIRAP-AS1

TIRAP antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:126294295-126304336

Links

ENSG00000255062 ∙ NCBI:105369557 ∙ ∙ HGNC:56069 ∙ ∙ ∙ 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 TIRAP-AS1 gene.

• Inborn genetic diseases (7 variants)
• not provided (3 variants)
• Al-Raqad syndrome (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIRAP-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	1		7	1	2	11
Total	1	0	7	1	2

Variants in TIRAP-AS1

This is a list of pathogenic ClinVar variants found in the TIRAP-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
11-126304087-G-A		Inborn genetic diseases	Uncertain significance (Mar 19, 2024)
11-126304097-C-T		Inborn genetic diseases	Uncertain significance (Mar 24, 2023)
11-126304105-G-C		Inborn genetic diseases	Uncertain significance (Aug 09, 2021)
11-126304117-C-A		Inborn genetic diseases	Uncertain significance (Jan 02, 2024)
11-126304121-A-G		Inborn genetic diseases	Uncertain significance (Dec 16, 2022)
11-126304127-A-C		Inborn genetic diseases	Uncertain significance (May 29, 2024)
11-126304143-C-T			Benign (Nov 16, 2020)
11-126304150-A-C		Inborn genetic diseases	Uncertain significance (Jun 16, 2024)
11-126304151-G-A		Inborn genetic diseases	Uncertain significance (Jun 13, 2023)
11-126304167-G-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Sep 13, 2021)
11-126304216-G-A		Inborn genetic diseases	Uncertain significance (Nov 08, 2022)
11-126304241-G-T		Inborn genetic diseases	Uncertain significance (Jan 31, 2023)
11-126304269-C-T		Al-Raqad syndrome	Benign (Jul 30, 2021)
11-126304282-G-T		Al-Raqad syndrome	Likely pathogenic (Sep 27, 2023)
11-126304283-T-C		Al-Raqad syndrome	Pathogenic (Jul 29, 2019)
11-126304285-C-G		Al-Raqad syndrome	Uncertain significance (Jan 17, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIRAP-AS1	protein_coding	protein_coding	ENST00000524964	2	10021

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.370	0.490	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.115	30	31.8	0.943	0.00000136	401
Missense in Polyphen
Synonymous	0.582	9	11.5	0.782	4.97e-7	129
Loss of Function	0.827	0	0.796	0.00	3.41e-8	9

LoF frequencies by population

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

dbNSFP

Source: dbNSFP