IBTK

inhibitor of Bruton tyrosine kinase, the group of BTB domain containing|Ankyrin repeat domain containing

Basic information

Region (hg38): 6:82169985-82247754

Previous symbols: [ "BTKI" ]

Links

ENSG00000005700 ∙ NCBI:25998 ∙ OMIM:606457 ∙ HGNC:17853 ∙ Uniprot:Q9P2D0 ∙ 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 IBTK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IBTK 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				1		1
missense			54		1	55
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	54	1	2

Variants in IBTK

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

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

Position	Type	Phenotype	Significance	ClinVar
6-82171495-T-G		not specified	Uncertain significance (Jun 26, 2023)
6-82171555-A-G		not specified	Uncertain significance (Jan 06, 2023)
6-82172391-C-G		not specified	Uncertain significance (Aug 02, 2021)
6-82172468-G-A		not specified	Uncertain significance (Mar 12, 2024)
6-82172480-G-A		not specified	Uncertain significance (Aug 15, 2023)
6-82172505-G-T		not specified	Uncertain significance (Dec 21, 2023)
6-82173398-T-C		not specified	Uncertain significance (Apr 12, 2022)
6-82181912-C-G		not specified	Uncertain significance (Apr 25, 2023)
6-82181942-C-G		not specified	Uncertain significance (Feb 15, 2023)
6-82181969-T-C		not specified	Uncertain significance (Apr 07, 2022)
6-82191142-T-A		Malignant tumor of prostate	Uncertain significance (-)
6-82191145-T-C		not specified	Uncertain significance (Mar 16, 2022)
6-82191199-C-A		not specified	Uncertain significance (Apr 20, 2024)
6-82191200-C-G		not specified	Uncertain significance (Apr 20, 2024)
6-82191202-T-C		not specified	Uncertain significance (Jun 16, 2024)
6-82191797-A-T			Benign (Jun 04, 2018)
6-82191815-A-C		not specified	Uncertain significance (Feb 13, 2023)
6-82191889-A-G			Benign (Dec 31, 2019)
6-82194488-C-T		not specified	Uncertain significance (Jul 06, 2021)
6-82194539-G-C		not specified	Uncertain significance (Feb 27, 2023)
6-82194590-T-C		not specified	Uncertain significance (Jun 07, 2023)
6-82200182-C-A		not specified	Uncertain significance (Jan 08, 2024)
6-82200200-C-T		not specified	Uncertain significance (Apr 13, 2022)
6-82200201-G-A		not specified	Uncertain significance (Dec 19, 2023)
6-82200207-G-A		not specified	Uncertain significance (Jan 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IBTK	protein_coding	protein_coding	ENST00000306270	28	77772

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00221	0.998	125704	0	44	125748	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.28	506	672	0.753	0.0000319	8884
Missense in Polyphen		81	162.46	0.49858		2094
Synonymous	1.84	200	236	0.848	0.0000114	2530
Loss of Function	5.37	18	64.6	0.279	0.00000325	883

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000428	0.000428
Ashkenazi Jewish	0.00	0.00
East Asian	0.000219	0.000217
Finnish	0.000514	0.000508
European (Non-Finnish)	0.000143	0.000132
Middle Eastern	0.000219	0.000217
South Asian	0.0000655	0.0000653
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription. {ECO:0000269|PubMed:11577348}.
• Pathway: BCR signaling pathway (Consensus)

Recessive Scores

• pRec: 0.0888

Intolerance Scores

• loftool: 0.641
• rvis_EVS: -0.66
• rvis_percentile_EVS: 16.07

Haploinsufficiency Scores

• pHI: 0.365
• hipred: Y
• hipred_score: 0.603
• ghis: 0.599

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.447

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ibtk
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: negative regulation of protein phosphorylation;release of sequestered calcium ion into cytosol;negative regulation of protein tyrosine kinase activity
• Cellular component: nucleoplasm;cytoplasm;membrane
• Molecular function: protein kinase binding;protein tyrosine kinase inhibitor activity