MXI1

MAX interactor 1, dimerization protein, the group of Basic helix-loop-helix proteins|MAX dimerization proteins

Basic information

Region (hg38): 10:110207605-110287365

Links

ENSG00000119950 ∙ NCBI:4601 ∙ OMIM:600020 ∙ HGNC:7534 ∙ Uniprot:P50539 ∙ 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 MXI1 gene.

• not_specified (41 variants)
• MXI1-related_disorder (5 variants)
• Prostate_cancer (3 variants)
• Ovarian_cancer (3 variants)
• not_provided (1 variants)
• Neurofibrosarcoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MXI1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000130439.3. 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				2	1	3
missense	2	2	40	1	2	47
nonsense						0
start loss						0
frameshift	1					1
splice donor/acceptor (+/-2bp)	1					1
Total	4	2	40	3	3

Highest pathogenic variant AF is 0.000024781397

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MXI1	protein_coding	protein_coding	ENST00000332674	6	79761

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00112	0.990	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	114	155	0.736	0.00000872	1909
Missense in Polyphen		40	71.183	0.56193		852
Synonymous	-0.0137	59	58.9	1.00	0.00000316	578
Loss of Function	2.29	8	18.7	0.428	0.00000150	163

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000606	0.0000606
Ashkenazi Jewish	0.000105	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000629	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.
• Pathway: Hematopoietic Stem Cell Differentiation (Consensus)

Recessive Scores

• pRec: 0.181

Intolerance Scores

• loftool: 0.531
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.58

Haploinsufficiency Scores

• pHI: 0.637
• hipred: Y
• hipred_score: 0.775
• ghis: 0.530

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mxi1
• Phenotype: renal/urinary system phenotype; immune system phenotype; neoplasm; hematopoietic system phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;negative regulation of cell population proliferation;cytoplasmic sequestering of transcription factor
• Cellular component: nucleus;nucleolus;cytosol;RNA polymerase II transcription factor complex
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA binding;transcription corepressor activity;protein binding;protein dimerization activity