JUND
JunD proto-oncogene, AP-1 transcription factor subunit, the group of Basic leucine zipper proteins|Jun transcription factor family
Basic information
Region (hg38): 19:18279694-18281622
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (52 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the JUND gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005354.6. 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 | 3 | |||||
| missense | 51 | 52 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 51 | 3 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| JUND | protein_coding | protein_coding | ENST00000252818 | 1 | 1870 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.701 | 0.285 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.40 | 80 | 124 | 0.646 | 0.00000574 | 2142 |
| Missense in Polyphen | 12 | 39.052 | 0.30729 | 519 | ||
| Synonymous | -2.41 | 87 | 62.7 | 1.39 | 0.00000300 | 783 |
| Loss of Function | 1.84 | 0 | 3.96 | 0.00 | 1.68e-7 | 68 |
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 binding AP-1 sites. {ECO:0000269|PubMed:9989505}.;
- Pathway
- MAPK signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Corticotropin-releasing hormone signaling pathway;Oncostatin M Signaling Pathway;Apoptosis-related network due to altered Notch3 in ovarian cancer;Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;TGF-beta Signaling Pathway;MAPK Signaling Pathway;EGF-EGFR Signaling Pathway;Hypertrophy Model;Signal Transduction;fosb gene expression and drug abuse;Oncostatin_M;ATF-2 transcription factor network;TGF_beta_Receptor;EGFR1;Signaling by Nuclear Receptors;Estrogen-dependent gene expression;ESR-mediated signaling;AP-1 transcription factor network;PDGFR-beta signaling pathway;Validated transcriptional targets of AP1 family members Fra1 and Fra2
(Consensus)
Haploinsufficiency Scores
- pHI
- 0.524
- hipred
- Y
- hipred_score
- 0.600
- ghis
- 0.543
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- 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
- Jund
- 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); hematopoietic system 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); embryo phenotype; liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;osteoblast development;regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;aging;circadian rhythm;response to radiation;response to light stimulus;response to mechanical stimulus;response to organic substance;response to lipopolysaccharide;cellular response to hormone stimulus;response to cytokine;response to drug;response to peptide hormone;positive regulation of cell differentiation;positive regulation of osteoblast differentiation;positive regulation of transcription by RNA polymerase II;response to cAMP;regulation of cell cycle;cellular response to calcium ion
- Cellular component
- chromatin;nuclear chromatin;nucleus;nucleoplasm;transcription factor complex;protein-DNA 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;transcription coactivator activity;protein binding;transcription factor binding;nuclear receptor binding;enzyme binding;transcription regulatory region DNA binding