ASH2L

ASH2 like, histone lysine methyltransferase complex subunit, the group of PHD finger proteins|WRAD complex

Basic information

Region (hg38): 8:38105492-38144076

Previous symbols: [ "ASH2L1" ]

Links

ENSG00000129691 ∙ NCBI:9070 ∙ OMIM:604782 ∙ HGNC:744 ∙ Uniprot:Q9UBL3 ∙ 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 ASH2L gene.

• Inborn genetic diseases (19 variants)
• Global developmental delay;Intellectual disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASH2L 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		1	17	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	1	18	1	0

Variants in ASH2L

This is a list of pathogenic ClinVar variants found in the ASH2L region.

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

Position	Type	Phenotype	Significance	ClinVar
8-38105561-C-A		not specified	Uncertain significance (May 31, 2023)
8-38105579-A-C		not specified	Likely benign (Dec 09, 2023)
8-38105639-G-T		not specified	Uncertain significance (May 18, 2023)
8-38105654-T-C		not specified	Uncertain significance (Dec 20, 2023)
8-38105657-C-T		not specified	Likely benign (Oct 27, 2022)
8-38105713-C-T		not specified	Uncertain significance (Apr 12, 2022)
8-38105725-G-A		not specified	Uncertain significance (Jul 09, 2021)
8-38106390-G-T		not specified	Uncertain significance (Jun 17, 2022)
8-38106403-G-A		not specified	Uncertain significance (Aug 16, 2022)
8-38107102-G-A		not specified	Uncertain significance (Jun 22, 2021)
8-38110789-C-G		not specified	Uncertain significance (Aug 08, 2023)
8-38114277-T-C		not specified	Uncertain significance (Jul 19, 2023)
8-38114981-A-C		not specified	Uncertain significance (Oct 25, 2022)
8-38116656-A-G		not specified	Uncertain significance (Jun 07, 2023)
8-38121069-G-C		not specified	Uncertain significance (Feb 06, 2023)
8-38121107-G-A		not specified	Uncertain significance (Mar 17, 2023)
8-38128371-G-A		not specified	Uncertain significance (Jun 16, 2023)
8-38128776-T-C		not specified	Uncertain significance (Feb 03, 2022)
8-38133536-C-T		not specified	Uncertain significance (Jan 30, 2024)
8-38135711-A-G		not specified	Uncertain significance (May 22, 2023)
8-38135743-A-G		not specified	Uncertain significance (Jan 08, 2024)
8-38138822-A-G		Global developmental delay;Intellectual disability	Likely pathogenic (-)
8-38138834-C-T		not specified	Uncertain significance (Sep 28, 2021)
8-38138847-A-G		not specified	Uncertain significance (Aug 26, 2022)
8-38142716-T-C		Congenital lipoid adrenal hyperplasia due to STAR deficency	Uncertain significance (Jan 12, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASH2L	protein_coding	protein_coding	ENST00000343823	16	38835

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000317	125739	0	8	125747	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.78	199	344	0.579	0.0000180	4090
Missense in Polyphen		34	98.623	0.34475		1116
Synonymous	1.09	112	128	0.877	0.00000720	1172
Loss of Function	5.12	3	36.3	0.0826	0.00000195	436

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. May function as a transcriptional regulator. May play a role in hematopoiesis. {ECO:0000269|PubMed:12670868, ECO:0000269|PubMed:19556245}.
• Pathway: Cushing,s syndrome - Homo sapiens (human);miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Signaling by WNT;Signal Transduction;Gene expression (Transcription);Generic Transcription Pathway;PKMTs methylate histone lysines;RNA Polymerase II Transcription;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Chromatin modifying enzymes;Chromatin organization;Transcriptional regulation by RUNX1;Formation of the beta-catenin:TCF transactivating complex;TCF dependent signaling in response to WNT (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.296
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.141
• hipred: Y
• hipred_score: 0.783
• ghis: 0.530

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.891

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ash2l
• 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); cellular phenotype

Gene ontology

• Biological process: transcription, DNA-templated;regulation of transcription, DNA-templated;cellular response to DNA damage stimulus;positive regulation of cell population proliferation;hemopoiesis;response to estrogen;regulation of megakaryocyte differentiation;positive regulation of transcription by RNA polymerase II;histone H3-K4 methylation;beta-catenin-TCF complex assembly
• Cellular component: nucleus;nucleoplasm;nuclear euchromatin;histone methyltransferase complex;MLL3/4 complex;Set1C/COMPASS complex;MLL1 complex
• Molecular function: protein binding;beta-catenin binding;histone-lysine N-methyltransferase activity;histone methyltransferase activity (H3-K4 specific);transcription regulatory region DNA binding;metal ion binding;euchromatin binding