MLLT6

MLLT6, PHD finger containing, the group of PHD finger proteins|MicroRNA protein coding host genes

Basic information

Region (hg38): 17:38705273-38729795

Links

ENSG00000275023

∙ NCBI:4302 ∙ OMIM:600328 ∙ HGNC:7138 ∙ Uniprot:P55198 ∙ 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 MLLT6 gene.

not_specified (110 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MLLT6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005937.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar		2 clinvar	5
missense			113 clinvar	1 clinvar		114
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	122	1	2

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Disease: DISEASE: Note=A chromosomal aberration involving MLLT6 is associated with acute leukemias. Translocation t(11;17)(q23;q21) with KMT2A/MLL1. The result is a rogue activator protein.;

Recessive Scores

pRec: 0.154

Intolerance Scores

loftool: 0.139
rvis_EVS: -0.02
rvis_percentile_EVS: 52.25

Haploinsufficiency Scores

pHI: 0.503
hipred: Y
hipred_score: 0.662
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.746

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Mllt6
Phenotype: normal phenotype;

Gene ontology

Biological process: regulation of transcription, DNA-templated;positive regulation of sodium ion transport;negative regulation of urine volume;renal sodium excretion;renal potassium excretion;positive regulation of transcription by RNA polymerase II;negative regulation of histone H3-K79 methylation
Cellular component: nucleus
Molecular function: protein binding;nucleosome binding;histone binding;metal ion binding