GeneBe

MLXIPL

MLX interacting protein like, the group of Basic helix-loop-helix proteins

Basic information

Region (hg38): 7:73593194-73624543

Previous symbols: [ "WBSCR14" ]

Links

ENSG00000009950 ∙ NCBI:51085 ∙ OMIM:605678 ∙ HGNC:12744 ∙ Uniprot:Q9NP71 ∙ 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 MLXIPL gene.

  • not_specified (113 variants)
  • not_provided (52 variants)
  • Williams_syndrome (2 variants)
  • MLXIPL-related_disorder (1 variants)
  • Myoepithelial_tumor (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MLXIPL gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032951.3. 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.

EffectPLPVUSLBBSum
synonymous
23
clinvar
6
clinvar
 29
missense
103
clinvar
18
clinvar
7
clinvar
 128
nonsense
0
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
0
Total 0 0 104 41 13
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MLXIPLprotein_codingprotein_codingENST00000313375 1731350
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.04780.9521257320161257480.0000636
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.233914660.8390.00002985359
Missense in Polyphen162190.920.848532234
Synonymous0.8911791950.9190.00001211804
Loss of Function3.90933.20.2710.00000161381

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001390.000119
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0001020.0000967
Middle Eastern0.000.00
South Asian0.00006610.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By similarity). {ECO:0000250}.;
Disease
DISEASE: Note=WBSCR14 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000269|PubMed:10780788}.;
Pathway
Insulin resistance - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Metformin Pathway, Pharmacodynamic;Angiopoietin Like Protein 8 Regulatory Pathway;Liver steatosis AOP;chrebp regulation by carbohydrates and camp;PKA-mediated phosphorylation of key metabolic factors;AMPK inhibits chREBP transcriptional activation activity;PP2A-mediated dephosphorylation of key metabolic factors;Metabolism;ChREBP activates metabolic gene expression;Integration of energy metabolism (Consensus)

Intolerance Scores

loftool
0.427
rvis_EVS
0.6
rvis_percentile_EVS
82.87

Haploinsufficiency Scores

pHI
0.737
hipred
Y
hipred_score
0.703
ghis
0.432

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.973

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mlxipl
Phenotype
adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; liver/biliary 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);

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;positive regulation of cell population proliferation;anatomical structure morphogenesis;glucose mediated signaling pathway;negative regulation of peptidyl-serine phosphorylation;intracellular signal transduction;glucose homeostasis;positive regulation of fatty acid biosynthetic process;positive regulation of glycolytic process;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;positive regulation of lipid biosynthetic process;fatty acid homeostasis;triglyceride homeostasis;negative regulation of cell cycle arrest;negative regulation of oxidative phosphorylation;energy homeostasis
Cellular component
nucleus;nucleoplasm;transcription factor complex;cytoplasm;cytosol
Molecular function
DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;transcription factor binding;carbohydrate response element binding;protein homodimerization activity;protein heterodimerization activity