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.

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.

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					2	2
missense			63	1		64
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	63	1	2

Variants in MLLT6

This is a list of pathogenic ClinVar variants found in the MLLT6 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-38705715-A-G		not specified	Uncertain significance (Jul 08, 2022)
17-38707806-A-G			Benign (Dec 31, 2019)
17-38709534-G-A		not specified	Uncertain significance (Nov 17, 2022)
17-38711857-G-A		not specified	Uncertain significance (Oct 26, 2021)
17-38711881-G-A		not specified	Uncertain significance (Jan 21, 2025)
17-38711910-G-C		not specified	Uncertain significance (Nov 09, 2024)
17-38711913-G-A		not specified	Uncertain significance (Sep 27, 2021)
17-38711996-C-T			Benign (Dec 31, 2019)
17-38712760-A-C		not specified	Uncertain significance (Apr 12, 2024)
17-38712769-G-A		not specified	Uncertain significance (Jul 25, 2023)
17-38715619-C-G		not specified	Uncertain significance (Jan 02, 2025)
17-38715649-C-A		not specified	Uncertain significance (Oct 12, 2024)
17-38715658-A-C		not specified	Uncertain significance (Apr 19, 2023)
17-38715673-G-A		not specified	Uncertain significance (Sep 29, 2023)
17-38715762-T-G		not specified	Uncertain significance (Oct 06, 2024)
17-38715774-T-G		not specified	Uncertain significance (Jul 09, 2021)
17-38715787-C-T		not specified	Uncertain significance (Feb 15, 2025)
17-38716388-C-G		not specified	Uncertain significance (Jan 09, 2024)
17-38716496-C-A		not specified	Uncertain significance (Mar 28, 2023)
17-38716499-A-T		not specified	Uncertain significance (Oct 13, 2023)
17-38716535-G-A		not specified	Uncertain significance (Dec 21, 2024)
17-38716552-C-T		not specified	Uncertain significance (May 05, 2023)
17-38716558-T-A		not specified	Uncertain significance (Jan 31, 2024)
17-38716583-G-C		not specified	Uncertain significance (Nov 27, 2024)
17-38716589-G-A		not specified	Uncertain significance (Dec 17, 2023)

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

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