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.

• PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (3 variants)
• not provided (2 variants)
• Inborn genetic diseases (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.

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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	5	6	60	28	13	112
Total	5	6	77	28	13

Variants in IRAK1BP1

This is a list of pathogenic ClinVar variants found in the IRAK1BP1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-78867581-C-G		not specified	Uncertain significance (Dec 20, 2023)
6-78867595-C-T		not specified	Uncertain significance (Feb 16, 2023)
6-78867638-G-C		not specified	Uncertain significance (Jun 02, 2024)
6-78867644-G-A		not specified	Uncertain significance (Mar 06, 2023)
6-78867646-G-C		not specified	Uncertain significance (Sep 14, 2023)
6-78867669-A-C		not specified	Uncertain significance (Jan 26, 2022)
6-78867749-C-T		not specified	Uncertain significance (May 31, 2023)
6-78867877-C-A		not specified	Uncertain significance (Dec 17, 2021)
6-78867881-A-G		not specified	Uncertain significance (Dec 01, 2022)
6-78885379-C-T		not specified	Uncertain significance (Jul 29, 2023)
6-78885405-T-C		not specified	Uncertain significance (Jan 10, 2022)
6-78885450-A-ACTTAT			Benign (Jan 17, 2024)
6-78897869-T-C		not specified	Uncertain significance (Nov 08, 2022)
6-78898102-G-A		not specified	Uncertain significance (Dec 06, 2021)
6-78898128-G-A		not specified	Uncertain significance (Sep 14, 2023)
6-78898128-G-T		not specified	Uncertain significance (Mar 26, 2024)
6-78898164-G-C		not specified	Uncertain significance (Dec 18, 2023)
6-78898218-C-T		not specified	Uncertain significance (Jan 24, 2024)
6-78898265-A-G		not specified	Uncertain significance (Feb 28, 2023)
6-78898305-G-A		not specified	Uncertain significance (Feb 27, 2023)
6-78940496-TTA-T			Benign (Jun 20, 2021)
6-78940496-TTATA-T			Benign (Jun 20, 2021)
6-78940686-G-A		PHIP-related disorder	Likely benign (Aug 30, 2022)
6-78940694-T-C		PHIP-related disorder	Likely benign (Jan 21, 2024)
6-78940737-G-A			Uncertain significance (Aug 08, 2024)

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