MLF2

myeloid leukemia factor 2

Basic information

Region (hg38): 12:6747996-6767475

Links

ENSG00000089693 ∙ NCBI:8079 ∙ OMIM:601401 ∙ HGNC:7126 ∙ Uniprot:Q15773 ∙ 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 MLF2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MLF2 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in MLF2

This is a list of pathogenic ClinVar variants found in the MLF2 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-6748809-G-A		not specified	Uncertain significance (Jun 06, 2023)
12-6748812-G-A		not specified	Uncertain significance (Mar 06, 2023)
12-6748823-G-C		not specified	Uncertain significance (Sep 15, 2021)
12-6748856-C-G		not specified	Uncertain significance (Mar 20, 2023)
12-6748899-C-G		not specified	Uncertain significance (Nov 21, 2023)
12-6748902-G-C		not specified	Uncertain significance (Nov 08, 2022)
12-6748937-C-T		not specified	Uncertain significance (Dec 30, 2023)
12-6749904-C-T		not specified	Uncertain significance (Sep 16, 2021)
12-6750238-G-A		not specified	Uncertain significance (Feb 21, 2024)
12-6750721-C-T		not specified	Uncertain significance (May 26, 2023)
12-6750748-T-C		not specified	Uncertain significance (Dec 17, 2021)
12-6750754-T-C		not specified	Uncertain significance (Oct 26, 2022)
12-6750762-C-T		not specified	Uncertain significance (Mar 20, 2023)
12-6751660-G-C		not specified	Uncertain significance (Mar 07, 2024)
12-6751947-G-A		not specified	Uncertain significance (Dec 13, 2022)
12-6752017-T-C		not specified	Uncertain significance (Apr 25, 2022)
12-6752019-C-T		not specified	Uncertain significance (Nov 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MLF2	protein_coding	protein_coding	ENST00000203630	7	19472

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.860	0.140	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.61	114	174	0.657	0.0000116	1624
Missense in Polyphen		26	46.821	0.55531		460
Synonymous	0.794	47	54.5	0.863	0.00000286	488
Loss of Function	3.14	2	15.2	0.131	9.84e-7	142

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000271	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.124

Intolerance Scores

• loftool: 0.316
• rvis_EVS: -0.36
• rvis_percentile_EVS: 28.63

Haploinsufficiency Scores

• pHI: 0.429
• hipred: Y
• hipred_score: 0.728
• ghis: 0.626

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.993

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mlf2

Gene ontology

• Biological process: regulation of transcription, DNA-templated
• Cellular component: nucleus;cytoplasm;membrane
• Molecular function: DNA binding;protein binding