BUB1B-PAK6

BUB1B-PAK6 readthrough

Basic information

Region (hg38): 15:40218500-40264890

Links

ENSG00000259288 ∙ NCBI:106821730 ∙ ∙ HGNC:52276 ∙ ∙ ∙ 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 BUB1B-PAK6 gene.

• Inborn genetic diseases (72 variants)
• Mosaic variegated aneuploidy syndrome 1 (50 variants)
• not provided (5 variants)
• not specified (3 variants)
• Colorectal cancer (2 variants)
• Colorectal cancer;Premature chromatid separation trait;Mosaic variegated aneuploidy syndrome 1 (1 variants)
• Premature chromatid separation trait (1 variants)
• Ovarian cancer (1 variants)
• Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait;Colorectal cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BUB1B-PAK6 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)			4	1	1	6
splice region						0
non coding			64	31	3	98
Total	0	0	68	32	4

Variants in BUB1B-PAK6

This is a list of pathogenic ClinVar variants found in the BUB1B-PAK6 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-40218501-A-G		Inborn genetic diseases	Uncertain significance (Mar 25, 2024)
15-40218501-A-T		Mosaic variegated aneuploidy syndrome 1	Pathogenic (Dec 15, 2022)
15-40218502-A-G		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Aug 16, 2020)
15-40218503-G-T		Inborn genetic diseases	Uncertain significance (Nov 23, 2023)
15-40218506-A-G		Inborn genetic diseases	Likely benign (Sep 10, 2022)
15-40218506-A-T		Mosaic variegated aneuploidy syndrome 1 • Inborn genetic diseases	Uncertain significance (Dec 16, 2022)
15-40218507-C-T		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Apr 10, 2022)
15-40218509-C-A		Inborn genetic diseases • Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jan 16, 2022)
15-40218509-C-G		Inborn genetic diseases	Uncertain significance (Dec 17, 2022)
15-40218509-C-T		Inborn genetic diseases	Likely benign (Mar 22, 2024)
15-40218510-C-T		Inborn genetic diseases	Likely benign (Mar 07, 2022)
15-40218514-A-C		Inborn genetic diseases	Uncertain significance (Dec 24, 2023)
15-40218515-G-A		Inborn genetic diseases	Likely benign (Oct 10, 2023)
15-40218515-G-T		Inborn genetic diseases	Uncertain significance (Jul 27, 2021)
15-40218517-T-C		Inborn genetic diseases	Uncertain significance (Mar 29, 2023)
15-40218518-C-G		Inborn genetic diseases	Likely benign (Jan 29, 2024)
15-40218526-A-C		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Apr 25, 2023)
15-40218533-C-T		Inborn genetic diseases	Likely benign (Sep 12, 2021)
15-40218535-T-C		Inborn genetic diseases	Uncertain significance (Mar 05, 2023)
15-40218536-C-A		Inborn genetic diseases	Likely benign (Dec 25, 2022)
15-40218536-C-T		Inborn genetic diseases • Mosaic variegated aneuploidy syndrome 1	Likely benign (Jan 04, 2022)
15-40218538-G-A		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Oct 18, 2022)
15-40218538-G-T		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Dec 11, 2021)
15-40218547-G-A		Inborn genetic diseases	Uncertain significance (May 21, 2023)
15-40218552-A-G		Inborn genetic diseases	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine/threonine protein kinase that plays a role in the regulation of gene transcription. The kinase activity is induced by various effectors including AR or MAP2K6/MAPKK6. Phosphorylates the DNA-binding domain of androgen receptor/AR and thereby inhibits AR-mediated transcription. Inhibits also ESR1-mediated transcription. May play a role in cytoskeleton regulation by interacting with IQGAP1. May protect cells from apoptosis through phosphorylation of BAD. {ECO:0000269|PubMed:14573606, ECO:0000269|PubMed:20054820}.
• Pathway: Focal adhesion - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Axon guidance - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Focal Adhesion;MET in type 1 papillary renal cell carcinoma;Ras Signaling;Developmental Biology;Activation of RAC1;AndrogenReceptor;IL-7 signaling;agrin in postsynaptic differentiation;JAK STAT pathway and regulation;EPO signaling;Signaling by ROBO receptors;Axon guidance;VEGF (Consensus)