HEYL
hes related family bHLH transcription factor with YRPW motif like, the group of Basic helix-loop-helix proteins
Basic information
Region (hg38): 1:39623435-39639643
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HEYL 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 | 39 | 42 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 39 | 3 | 0 |
Variants in HEYL
This is a list of pathogenic ClinVar variants found in the HEYL region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-39626518-C-T | not specified | Uncertain significance (Feb 12, 2025) | ||
| 1-39626541-C-G | not specified | Uncertain significance (Oct 25, 2024) | ||
| 1-39626565-G-A | not specified | Uncertain significance (Feb 09, 2023) | ||
| 1-39626565-G-C | not specified | Likely benign (Jun 18, 2021) | ||
| 1-39626601-G-C | not specified | Uncertain significance (Dec 01, 2022) | ||
| 1-39626640-C-A | not specified | Uncertain significance (Jun 26, 2023) | ||
| 1-39626641-C-G | not specified | Uncertain significance (Sep 25, 2024) | ||
| 1-39626743-G-T | not specified | Uncertain significance (Mar 21, 2024) | ||
| 1-39626748-C-T | not specified | Uncertain significance (Feb 21, 2025) | ||
| 1-39626793-C-T | not specified | Uncertain significance (Jul 19, 2023) | ||
| 1-39626826-C-T | not specified | Uncertain significance (Oct 30, 2023) | ||
| 1-39626827-G-A | not specified | Uncertain significance (Sep 22, 2023) | ||
| 1-39626841-C-T | not specified | Uncertain significance (Feb 15, 2023) | ||
| 1-39626842-G-C | not specified | Uncertain significance (Dec 27, 2023) | ||
| 1-39626862-G-C | not specified | Uncertain significance (Oct 20, 2024) | ||
| 1-39626863-C-A | not specified | Uncertain significance (Dec 16, 2023) | ||
| 1-39626874-A-G | not specified | Likely benign (Jul 05, 2024) | ||
| 1-39626881-G-A | not specified | Uncertain significance (Sep 12, 2024) | ||
| 1-39626900-T-A | not specified | Uncertain significance (Aug 01, 2022) | ||
| 1-39626913-G-T | not specified | Uncertain significance (Mar 22, 2023) | ||
| 1-39626914-C-T | not specified | Uncertain significance (Aug 10, 2021) | ||
| 1-39626959-A-G | not specified | Uncertain significance (Apr 23, 2024) | ||
| 1-39626963-C-A | not specified | Uncertain significance (Sep 01, 2021) | ||
| 1-39626989-G-A | not specified | Uncertain significance (May 26, 2024) | ||
| 1-39626992-C-A | not specified | Uncertain significance (Nov 14, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| HEYL | protein_coding | protein_coding | ENST00000372852 | 5 | 15793 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 3.27e-7 | 0.340 | 125729 | 0 | 19 | 125748 | 0.0000756 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.0624 | 190 | 188 | 1.01 | 0.0000117 | 2052 |
| Missense in Polyphen | 75 | 72.476 | 1.0348 | 747 | ||
| Synonymous | 1.13 | 61 | 73.4 | 0.832 | 0.00000441 | 730 |
| Loss of Function | 0.515 | 11 | 13.0 | 0.846 | 9.16e-7 | 110 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000193 | 0.000184 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000794 | 0.0000791 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.0000980 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6. {ECO:0000250, ECO:0000269|PubMed:15485867}.;
- Pathway
- Breast cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Signaling by NOTCH1;Disease;Signal Transduction;Signaling by NOTCH1;Signaling by NOTCH;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Signaling by NOTCH1 PEST Domain Mutants in Cancer;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer;Signaling by NOTCH1 in Cancer;Diseases of signal transduction;NOTCH1 Intracellular Domain Regulates Transcription
(Consensus)
Recessive Scores
- pRec
- 0.118
Intolerance Scores
- loftool
- 0.605
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 43.57
Haploinsufficiency Scores
- pHI
- 0.144
- hipred
- N
- hipred_score
- 0.208
- ghis
- 0.582
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.492
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Heyl
- Phenotype
- cellular phenotype; muscle phenotype; growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; normal 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;blood vessel development;outflow tract morphogenesis;atrioventricular valve morphogenesis;pulmonary valve morphogenesis;epithelial to mesenchymal transition involved in endocardial cushion formation;endocardial cushion morphogenesis;cardiac ventricle morphogenesis;Notch signaling pathway;positive regulation of transcription of Notch receptor target;heart development;mesenchymal cell development;cell differentiation;glomerulus development;skeletal muscle cell differentiation;negative regulation of DNA-binding transcription factor activity;positive regulation of neuron differentiation;negative regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;regulation of neurogenesis;cardiac epithelial to mesenchymal transition;ventricular septum morphogenesis;negative regulation of androgen receptor signaling pathway;cellular response to BMP stimulus;proximal tubule development
- Cellular component
- nucleus;nucleoplasm;cytoplasm
- Molecular function
- RNA polymerase II regulatory region sequence-specific DNA binding;RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;transcription corepressor activity;protein binding;transcription factor binding;microsatellite binding;protein homodimerization activity;sequence-specific DNA binding;protein heterodimerization activity;AF-1 domain binding;sequence-specific double-stranded DNA binding