BHLHA15
basic helix-loop-helix family member a15, the group of Basic helix-loop-helix proteins
Basic information
Region (hg38): 7:98211439-98215457
Previous symbols: [ "BHLHB8" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (37 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BHLHA15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000177455.4. 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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 35 | 37 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 35 | 2 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BHLHA15 | protein_coding | protein_coding | ENST00000609256 | 1 | 1553 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00658 | 0.532 | 119150 | 0 | 5 | 119155 | 0.0000210 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.490 | 96 | 110 | 0.869 | 0.00000833 | 1169 |
| Missense in Polyphen | 42 | 58.295 | 0.72047 | 537 | ||
| Synonymous | -0.652 | 59 | 53.0 | 1.11 | 0.00000404 | 426 |
| Loss of Function | 0.0180 | 3 | 3.03 | 0.989 | 1.29e-7 | 42 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000507 | 0.0000489 |
| European (Non-Finnish) | 0.0000417 | 0.0000371 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E- box occupancy by homodimers. May also negatively regulate bHLH- mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E- box consensus sequence 5'-CANNTG-3' (By similarity). {ECO:0000250|UniProtKB:Q9QYC3}.;
- Pathway
- Maturity onset diabetes of the young - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.150
Haploinsufficiency Scores
- pHI
- 0.488
- hipred
- N
- hipred_score
- 0.208
- ghis
- 0.503
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.441
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bhlha15
- Phenotype
- liver/biliary system 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); reproductive system phenotype; neoplasm; digestive/alimentary phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- bhlha15
- Affected structure
- exocrine pancreas
- Phenotype tag
- abnormal
- Phenotype quality
- disorganized
Gene ontology
- Biological process
- mitochondrial calcium ion transmembrane transport;Golgi organization;G protein-coupled receptor signaling pathway;cell-cell signaling;negative regulation of myotube differentiation;calcium-mediated signaling;endoplasmic reticulum unfolded protein response;cellular response to glucose starvation;glucose homeostasis;positive regulation of transcription by RNA polymerase II;intracellular distribution of mitochondria;cell maturation
- Cellular component
- nucleus
- Molecular function
- RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;protein homodimerization activity