KANSL1L

KAT8 regulatory NSL complex subunit 1 like

Basic information

Region (hg38): 2:210021421-210171409

Previous symbols: [ "C2orf67" ]

Links

ENSG00000144445NCBI:151050OMIM:613833HGNC:26310Uniprot:A0AUZ9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
1
clinvar
2
missense
36
clinvar
3
clinvar
1
clinvar
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)2321575
2-210023010-T-C Benign (Dec 11, 2017)717268
2-210023013-G-A not specified Uncertain significance (Jan 10, 2022)2214945
2-210023063-T-G not specified Uncertain significance (Aug 17, 2022)2308587
2-210023094-A-T not specified Uncertain significance (May 13, 2024)3287354
2-210023137-C-T not specified Uncertain significance (Jan 11, 2023)2462226
2-210023161-G-A not specified Uncertain significance (May 15, 2024)3287349
2-210024061-G-A not specified Uncertain significance (Mar 18, 2024)3287355
2-210025207-G-C not specified Uncertain significance (Nov 19, 2022)2210079
2-210027316-A-G not specified Uncertain significance (Jan 03, 2024)3112667
2-210027317-T-G not specified Uncertain significance (Oct 14, 2023)3112666
2-210027342-A-G not specified Uncertain significance (Nov 08, 2022)2242761
2-210028860-T-G not specified Uncertain significance (Nov 10, 2022)2408043
2-210028881-A-G not specified Uncertain significance (Nov 08, 2022)2324538
2-210028896-A-G not specified Uncertain significance (May 24, 2023)2511463
2-210028959-C-T not specified Uncertain significance (Jan 16, 2024)3112665
2-210029855-A-G not specified Uncertain significance (May 30, 2023)2552728
2-210031457-C-T not specified Uncertain significance (Feb 11, 2022)2277372
2-210031526-A-G not specified Uncertain significance (Apr 05, 2023)2513892
2-210031536-A-G Likely benign (Nov 02, 2017)735231
2-210031546-A-G not specified Uncertain significance (May 23, 2023)2550007
2-210040474-C-G not specified Uncertain significance (Jun 22, 2024)3287352
2-210044030-A-T not specified Uncertain significance (May 17, 2023)2547551
2-210044061-A-T not specified Uncertain significance (Sep 06, 2022)2310028
2-210075639-C-T not specified Uncertain significance (Mar 29, 2022)2356353

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KANSL1Lprotein_codingprotein_codingENST00000281772 14149961
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.6570.3431257090391257480.000155
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2454704850.9690.00002286502
Missense in Polyphen134156.330.857182094
Synonymous-1.151961771.110.000008441801
Loss of Function5.251151.80.2120.00000288630

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002150.000213
Ashkenazi Jewish0.0001020.0000992
East Asian0.0004360.000435
Finnish0.0002350.000231
European (Non-Finnish)0.0001440.000141
Middle Eastern0.0004360.000435
South Asian0.00006540.0000653
Other0.0003330.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kansl1l
Phenotype

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)