MBIP

MAP3K12 binding inhibitory protein 1, the group of ATAC complex

Basic information

Region (hg38): 14:36298564-36320637

Links

ENSG00000151332 ∙ NCBI:51562 ∙ OMIM:609431 ∙ HGNC:20427 ∙ Uniprot:Q9NS73 ∙ 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 MBIP gene.

• not_specified (33 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MBIP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016586.3. 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						0
missense			30	3		33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MBIP	protein_coding	protein_coding	ENST00000416007	9	22113

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000138	0.962	125687	1	60	125748	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.141	170	175	0.970	0.00000837	2251
Missense in Polyphen		65	68.338	0.95115		954
Synonymous	-0.0645	64	63.3	1.01	0.00000324	628
Loss of Function	1.90	11	20.2	0.543	0.00000112	234

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000462	0.000460
Ashkenazi Jewish	0.00	0.00
East Asian	0.000220	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000354	0.000352
Middle Eastern	0.000220	0.000217
South Asian	0.000306	0.000261
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits the MAP3K12 activity to induce the activation of the JNK/SAPK pathway. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. {ECO:0000269|PubMed:19103755}.
• Pathway: EGF-Ncore;Chromatin modifying enzymes;HATs acetylate histones;Chromatin organization (Consensus)

Recessive Scores

• pRec: 0.0795

Intolerance Scores

• loftool: 0.939
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.0600
• hipred: N
• hipred_score: 0.496
• ghis: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.941

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mbip

Gene ontology

• Biological process: inactivation of MAPK activity involved in osmosensory signaling pathway;molybdopterin cofactor biosynthetic process;histone H3 acetylation
• Cellular component: nucleus;Ada2/Gcn5/Ada3 transcription activator complex;nucleolus;cytosol
• Molecular function: protein kinase inhibitor activity;protein binding;molybdopterin synthase activity;identical protein binding