ASCL4

achaete-scute family bHLH transcription factor 4, the group of Basic helix-loop-helix proteins

Basic information

Region (hg38): 12:107774704-107776644

Links

ENSG00000187855NCBI:121549OMIM:609155HGNC:24311Uniprot:Q6XD76AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ASCL4 gene.

  • not_specified (36 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASCL4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000203436.3. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
35
clinvar
1
clinvar
36
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 35 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ASCL4protein_codingprotein_codingENST00000342331 12260
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.001630.47500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.0412091.91.310.000004351052
Missense in Polyphen4229.5121.4231358
Synonymous-0.5374843.51.100.00000204376
Loss of Function0.0087644.020.9951.76e-745

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Could be a transcriptional regulator involved in skin development. {ECO:0000269|PubMed:15475265}.;

Recessive Scores

pRec
0.0879

Haploinsufficiency Scores

pHI
0.0800
hipred
N
hipred_score
0.220
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.539

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ascl4
Phenotype

Gene ontology

Biological process
regulation of transcription by RNA polymerase II;skin development;positive regulation of transcription by RNA polymerase II
Cellular component
cellular_component;RNA polymerase II transcription factor complex
Molecular function
RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;transcription factor binding;protein dimerization activity