KANSL1L

KAT8 regulatory NSL complex subunit 1 like

Basic information

Region (hg38): 2:210021421-210171409

Previous symbols: [ "C2orf67" ]

Links

ENSG00000144445 ∙ NCBI:151050 ∙ OMIM:613833 ∙ HGNC:26310 ∙ Uniprot:A0AUZ9 ∙ 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 KANSL1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KANSL1L 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				1	1	2
missense			36	3	1	40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	4	2

Variants in KANSL1L

This is a list of pathogenic ClinVar variants found in the KANSL1L region.

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

Position	Type	Phenotype	Significance	ClinVar
2-210022989-G-T		not specified	Uncertain significance (Oct 31, 2022)
2-210023010-T-C			Benign (Dec 11, 2017)
2-210023013-G-A		not specified	Uncertain significance (Jan 10, 2022)
2-210023049-C-G		not specified	Uncertain significance (Oct 07, 2024)
2-210023056-C-T		not specified	Uncertain significance (Nov 15, 2024)
2-210023063-T-G		not specified	Uncertain significance (Aug 17, 2022)
2-210023094-A-T		not specified	Uncertain significance (May 13, 2024)
2-210023137-C-T		not specified	Uncertain significance (Jan 11, 2023)
2-210023161-G-A		not specified	Uncertain significance (May 15, 2024)
2-210024044-G-C		not specified	Uncertain significance (Aug 20, 2024)
2-210024061-G-A		not specified	Uncertain significance (Mar 18, 2024)
2-210024080-G-C		not specified	Uncertain significance (Oct 01, 2024)
2-210024081-A-T		not specified	Uncertain significance (Aug 28, 2024)
2-210024087-G-C		not specified	Uncertain significance (Jun 26, 2024)
2-210024194-T-G		not specified	Uncertain significance (Sep 26, 2024)
2-210025116-C-T		not specified	Uncertain significance (Aug 27, 2024)
2-210025195-C-G		not specified	Uncertain significance (Sep 11, 2024)
2-210025207-G-C		not specified	Uncertain significance (Nov 19, 2022)
2-210027301-C-G		not specified	Uncertain significance (Oct 12, 2024)
2-210027316-A-G		not specified	Uncertain significance (Jan 03, 2024)
2-210027317-T-G		not specified	Uncertain significance (Oct 14, 2023)
2-210027342-A-G		not specified	Uncertain significance (Nov 08, 2022)
2-210028860-T-G		not specified	Uncertain significance (Nov 10, 2022)
2-210028881-A-G		not specified	Uncertain significance (Nov 08, 2022)
2-210028896-A-G		not specified	Uncertain significance (May 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KANSL1L	protein_coding	protein_coding	ENST00000281772	14	149961

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.657	0.343	125709	0	39	125748	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.245	470	485	0.969	0.0000228	6502
Missense in Polyphen		134	156.33	0.85718		2094
Synonymous	-1.15	196	177	1.11	0.00000844	1801
Loss of Function	5.25	11	51.8	0.212	0.00000288	630

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000215	0.000213
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.000436	0.000435
Finnish	0.000235	0.000231
European (Non-Finnish)	0.000144	0.000141
Middle Eastern	0.000436	0.000435
South Asian	0.0000654	0.0000653
Other	0.000333	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.25
• rvis_percentile_EVS: 69.57

Haploinsufficiency Scores

• pHI: 0.184
• hipred: N
• hipred_score: 0.328
• ghis: 0.505

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kansl1l

Gene ontology

• Biological process: histone H4-K5 acetylation;histone H4-K8 acetylation;histone H4-K16 acetylation
• Cellular component: NSL complex
• Molecular function: histone acetyltransferase binding;histone acetyltransferase activity (H4-K5 specific);histone acetyltransferase activity (H4-K8 specific);histone acetyltransferase activity (H4-K16 specific)