INHBA
inhibin subunit beta A, the group of Inhibin subunits
Basic information
Region (hg38): 7:41667168-41705834
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (33 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the INHBA gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002192.4. 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 | 34 | 34 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 34 | 0 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| INHBA | protein_coding | protein_coding | ENST00000242208 | 2 | 17995 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.980 | 0.0202 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.50 | 142 | 254 | 0.559 | 0.0000142 | 2792 |
| Missense in Polyphen | 36 | 99.761 | 0.36086 | 1085 | ||
| Synonymous | -1.63 | 125 | 104 | 1.20 | 0.00000588 | 827 |
| Loss of Function | 3.20 | 0 | 11.9 | 0.00 | 5.02e-7 | 169 |
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 | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.;
- Pathway
- TGF-beta signaling pathway - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);TGF-Core;Cardiac Progenitor Differentiation;Hair Follicle Development- Induction (Part 1 of 3);Differentiation Pathway;Mesodermal Commitment Pathway;TGF-beta Receptor Signaling;Senescence and Autophagy in Cancer;Signal Transduction;Peptide hormone metabolism;Antagonism of Activin by Follistatin;Signaling by Activin;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;TGF-beta super family signaling pathway canonical;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;BMP2 signaling TGF-beta MV;Glycoprotein hormones;Signaling by TGF-beta family members;ALK1 signaling events;Peptide hormone biosynthesis
(Consensus)
Recessive Scores
- pRec
- 0.293
Intolerance Scores
- loftool
- 0.0433
- rvis_EVS
- -0.38
- rvis_percentile_EVS
- 27.69
Haploinsufficiency Scores
- pHI
- 0.913
- hipred
- Y
- hipred_score
- 0.800
- ghis
- 0.469
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.991
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Inhba
- Phenotype
- vision/eye phenotype; digestive/alimentary phenotype; skeleton phenotype; renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; hematopoietic system phenotype; growth/size/body region phenotype; reproductive system 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); normal 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); craniofacial phenotype; muscle phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype;
Zebrafish Information Network
- Gene name
- inhbaa
- Affected structure
- fin regeneration
- Phenotype tag
- abnormal
- Phenotype quality
- disrupted
Gene ontology
- Biological process
- G1/S transition of mitotic cell cycle;ovarian follicle development;hair follicle development;hematopoietic progenitor cell differentiation;regulation of transcription by RNA polymerase II;defense response;cell cycle arrest;cell surface receptor signaling pathway;cell-cell signaling;nervous system development;negative regulation of cell population proliferation;male gonad development;response to wounding;regulation of signaling receptor activity;positive regulation of gene expression;positive regulation of pathway-restricted SMAD protein phosphorylation;striatal medium spiny neuron differentiation;cell differentiation;erythrocyte differentiation;negative regulation of cell growth;positive regulation of cellular protein metabolic process;activin receptor signaling pathway;endodermal cell differentiation;negative regulation of phosphorylation;odontogenesis;response to drug;hemoglobin biosynthetic process;progesterone secretion;regulation of apoptotic process;regulation of MAPK cascade;negative regulation of interferon-gamma biosynthetic process;negative regulation of B cell differentiation;positive regulation of erythrocyte differentiation;negative regulation of macrophage differentiation;negative regulation of cell cycle;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;regulation of follicle-stimulating hormone secretion;positive regulation of follicle-stimulating hormone secretion;negative regulation of follicle-stimulating hormone secretion;mesodermal cell differentiation;cell development;roof of mouth development;positive regulation of ovulation;SMAD protein signal transduction;eyelid development in camera-type eye;cellular response to follicle-stimulating hormone stimulus;cellular response to cholesterol;GABAergic neuron differentiation;extrinsic apoptotic signaling pathway;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
- Cellular component
- extracellular region;extracellular space;activin A complex;inhibin A complex;perinuclear region of cytoplasm
- Molecular function
- cytokine activity;transforming growth factor beta receptor binding;hormone activity;protein binding;growth factor activity;peptide hormone binding;inhibin binding;identical protein binding;protein heterodimerization activity;type II activin receptor binding