IKBKE-AS1

IKBKE antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:206491116-206497728

Previous symbols: [ "C1orf147" ]

Links

ENSG00000162888 ∙ NCBI:574431 ∙ ∙ HGNC:32061 ∙ Uniprot:Q96MC9 ∙ 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 IKBKE-AS1 gene.

• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IKBKE-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			6			6
Total	0	0	7	0	0

Variants in IKBKE-AS1

This is a list of pathogenic ClinVar variants found in the IKBKE-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
1-206493084-A-G		not specified	Uncertain significance (Dec 02, 2022)
1-206493106-A-G		not specified	Uncertain significance (Sep 22, 2023)
1-206493285-A-G		not specified	Uncertain significance (Aug 12, 2021)
1-206493286-C-G		not specified	Uncertain significance (Sep 14, 2023)
1-206493306-C-T		not specified	Uncertain significance (Jan 23, 2023)
1-206493321-C-T		not specified	Uncertain significance (May 03, 2023)
1-206493333-C-G		not specified	Uncertain significance (Oct 12, 2021)
1-206493973-A-G		not specified	Uncertain significance (Dec 17, 2023)
1-206493987-G-C		not specified	Uncertain significance (May 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IKBKE-AS1	protein_coding	protein_coding	ENST00000367119	2	6613

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0175	0.500	106011	0	1	106012	0.00000472

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.822	110	137	0.803	0.00000725	1729
Missense in Polyphen		9	10.324	0.87175		112
Synonymous	1.21	39	49.9	0.782	0.00000267	546
Loss of Function	-0.466	2	1.40	1.42	5.98e-8	25

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)	0.0000107	0.0000107
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0534
• hipred: N
• hipred_score: 0.123
• ghis: 0.402

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