JUNB
JunB proto-oncogene, AP-1 transcription factor subunit, the group of Jun transcription factor family|Basic leucine zipper proteins
Basic information
Region (hg38): 19:12791486-12793315
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (30 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the JUNB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002229.3. 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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 30 | 30 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 30 | 0 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| JUNB | protein_coding | protein_coding | ENST00000302754 | 1 | 1815 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.863 | 0.135 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.17 | 111 | 197 | 0.564 | 0.00000886 | 2135 |
| Missense in Polyphen | 15 | 59.499 | 0.25211 | 654 | ||
| Synonymous | 1.28 | 78 | 93.8 | 0.832 | 0.00000444 | 776 |
| Loss of Function | 2.36 | 0 | 6.51 | 0.00 | 2.75e-7 | 86 |
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: Transcription factor involved in regulating gene activity following the primary growth factor response. Binds to the DNA sequence 5'-TGA[CG]TCA-3'.;
- Pathway
- TNF signaling pathway - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Transcriptional activity of SMAD2-SMAD3-SMAD4 heterotrimer;Corticotropin-releasing hormone signaling pathway;Oncostatin M Signaling Pathway;Aryl Hydrocarbon Receptor Pathway;Vitamin D Receptor Pathway;Nuclear Receptors Meta-Pathway;Kit receptor signaling pathway;Photodynamic therapy-induced AP-1 survival signaling.;IL-6 signaling pathway;TGF-beta Signaling Pathway;Interleukin-4 and 13 signaling;Oxidative Stress;gata3 participate in activating the th2 cytokine genes expression;Oncostatin_M;ATF-2 transcription factor network;BCR;TGF_beta_Receptor;TNFalpha;Downstream signaling in naïve CD8+ T cells;Calcineurin-regulated NFAT-dependent transcription in lymphocytes;AP-1 transcription factor network;Validated transcriptional targets of AP1 family members Fra1 and Fra2;IL6-mediated signaling events;Calcium signaling in the CD4+ TCR pathway
(Consensus)
Recessive Scores
- pRec
- 0.127
Haploinsufficiency Scores
- pHI
- 0.962
- hipred
- Y
- hipred_score
- 0.706
- ghis
- 0.561
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Junb
- 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); cellular phenotype; homeostasis/metabolism 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); hematopoietic system phenotype; 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); neoplasm; immune system phenotype; skeleton phenotype; renal/urinary system phenotype; limbs/digits/tail phenotype;
Zebrafish Information Network
- Gene name
- junbb
- Affected structure
- vascular lymphangioblast
- Phenotype tag
- abnormal
- Phenotype quality
- absent
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;vasculogenesis;osteoblast differentiation;trophectodermal cell differentiation;regulation of transcription by RNA polymerase II;response to radiation;response to mechanical stimulus;response to organic substance;cytokine-mediated signaling pathway;osteoclast differentiation;response to lipopolysaccharide;cellular response to hormone stimulus;osteoblast proliferation;response to cytokine;response to drug;positive regulation of cell differentiation;positive regulation of transcription by RNA polymerase II;decidualization;response to cAMP;regulation of cell cycle;embryonic process involved in female pregnancy;labyrinthine layer blood vessel development;cellular response to calcium ion
- Cellular component
- chromatin;nuclear chromatin;nucleoplasm;transcription factor complex;transcription factor AP-1 complex
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;transcription coactivator activity;transcription corepressor activity;protein binding;transcription factor binding