IKBIP

IKBKB interacting protein

Basic information

Region (hg38): 12:98613405-98645113

Links

ENSG00000166130 ∙ NCBI:121457 ∙ OMIM:609861 ∙ HGNC:26430 ∙ Uniprot:Q70UQ0 ∙ 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 IKBIP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IKBIP 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			34	3		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	3	0

Variants in IKBIP

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

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

Position	Type	Phenotype	Significance	ClinVar
12-98613725-T-C		not specified	Uncertain significance (Oct 22, 2021)
12-98614276-C-A		not specified	Uncertain significance (Nov 08, 2021)
12-98625940-C-T		not specified	Uncertain significance (Mar 24, 2023)
12-98625961-A-G		not specified	Uncertain significance (Dec 14, 2023)
12-98625967-T-C		not specified	Uncertain significance (Oct 01, 2024)
12-98626046-C-T		not specified	Uncertain significance (Sep 06, 2022)
12-98626075-T-C		not specified	Uncertain significance (May 24, 2023)
12-98626082-T-C		not specified	Uncertain significance (Oct 03, 2023)
12-98626141-T-C		not specified	Uncertain significance (Jun 07, 2023)
12-98626148-T-C		not specified	Uncertain significance (Mar 29, 2023)
12-98626152-C-T		not specified	Uncertain significance (Feb 14, 2023)
12-98626155-C-G		not specified	Uncertain significance (Mar 02, 2023)
12-98626173-C-T		not specified	Uncertain significance (Feb 05, 2024)
12-98626208-C-T		not specified	Uncertain significance (Nov 14, 2024)
12-98626234-T-C		not specified	Uncertain significance (Jan 09, 2025)
12-98626249-T-C		not specified	Uncertain significance (Jan 20, 2025)
12-98626283-C-T		not specified	Likely benign (Sep 14, 2022)
12-98626289-G-A		not specified	Uncertain significance (Apr 22, 2022)
12-98626298-T-C		not specified	Uncertain significance (Jun 05, 2024)
12-98626327-T-A		not specified	Uncertain significance (Dec 06, 2022)
12-98626352-T-C		not specified	Likely benign (Jun 21, 2023)
12-98626454-C-T		not specified	Uncertain significance (Dec 08, 2023)
12-98626528-T-C		not specified	Uncertain significance (Jun 13, 2024)
12-98626544-T-G		not specified	Uncertain significance (May 17, 2023)
12-98626562-T-C		not specified	Likely benign (Apr 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IKBIP	protein_coding	protein_coding	ENST00000299157	3	31709

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.61e-8	0.287	125616	1	128	125745	0.000513

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.200	175	183	0.958	0.00000820	2500
Missense in Polyphen		37	44.336	0.83453		660
Synonymous	-0.775	77	68.8	1.12	0.00000327	676
Loss of Function	0.490	12	14.0	0.859	6.80e-7	176

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000332	0.000332
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000182	0.000176
Middle Eastern	0.000109	0.000109
South Asian	0.00307	0.00304
Other	0.000657	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Target of p53/TP53 with pro-apoptotic function. {ECO:0000269|PubMed:15389287}.

Intolerance Scores

• loftool: 0.897
• rvis_EVS: 0.18
• rvis_percentile_EVS: 66.13

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.144
• ghis: 0.477

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ikbip

Gene ontology

• Biological process: response to X-ray
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;membrane;integral component of membrane
• Molecular function: protein binding