IRAK1BP1

interleukin 1 receptor associated kinase 1 binding protein 1

Basic information

Region (hg38): 6:78867551-78946440

Links

ENSG00000146243 ∙ NCBI:134728 ∙ OMIM:615375 ∙ HGNC:17368 ∙ Uniprot:Q5VVH5 ∙ 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 IRAK1BP1 gene.

• not_specified (36 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IRAK1BP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001010844.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			36			36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IRAK1BP1	protein_coding	protein_coding	ENST00000369940	4	78969

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000145	0.407	125562	2	184	125748	0.000740

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.598	159	139	1.14	0.00000652	1664
Missense in Polyphen		53	51.332	1.0325		586
Synonymous	-0.130	53	51.8	1.02	0.00000234	516
Loss of Function	0.560	10	12.1	0.826	5.84e-7	133

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00264	0.00264
Ashkenazi Jewish	0.000299	0.000298
East Asian	0.000173	0.000163
Finnish	0.00310	0.00310
European (Non-Finnish)	0.000169	0.000167
Middle Eastern	0.000173	0.000163
South Asian	0.000430	0.000392
Other	0.000659	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the IRAK1-dependent TNFRSF1A signaling pathway that leads to NF-kappa-B activation and is required for cell survival. Acts by enhancing RELA transcriptional activity (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.338
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.21

Haploinsufficiency Scores

• pHI: 0.102
• hipred: Y
• hipred_score: 0.550
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.564

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Irak1bp1

Gene ontology

• Biological process: immune response;I-kappaB kinase/NF-kappaB signaling
• Cellular component: nucleus;cytoplasm
• Molecular function: protein binding