AJUBA
ajuba LIM protein, the group of Ajuba family
Basic information
Region (hg38): 14:22971176-22982551
Previous symbols: [ "JUB" ]
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 AJUBA 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 | 21 | 22 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 21 | 1 | 0 |
Variants in AJUBA
This is a list of pathogenic ClinVar variants found in the AJUBA region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-22973468-C-T | not specified | Uncertain significance (Apr 09, 2024) | ||
| 14-22973482-C-A | not specified | Uncertain significance (Apr 09, 2024) | ||
| 14-22973562-G-A | not specified | Uncertain significance (Nov 17, 2022) | ||
| 14-22974111-C-G | not specified | Uncertain significance (Mar 23, 2022) | ||
| 14-22974885-T-C | not specified | Uncertain significance (May 24, 2023) | ||
| 14-22981318-C-T | not specified | Uncertain significance (May 20, 2024) | ||
| 14-22981359-C-T | not specified | Uncertain significance (Jan 08, 2024) | ||
| 14-22981366-G-T | not specified | Uncertain significance (May 02, 2024) | ||
| 14-22981401-C-T | not specified | Uncertain significance (Oct 03, 2022) | ||
| 14-22981405-C-T | not specified | Uncertain significance (Oct 17, 2023) | ||
| 14-22981492-G-T | not specified | Uncertain significance (Apr 19, 2024) | ||
| 14-22981507-T-C | not specified | Uncertain significance (Mar 06, 2023) | ||
| 14-22981545-A-G | not specified | Uncertain significance (Sep 14, 2023) | ||
| 14-22981639-C-T | not specified | Uncertain significance (Oct 29, 2021) | ||
| 14-22981641-G-C | not specified | Uncertain significance (Apr 24, 2023) | ||
| 14-22981651-C-T | not specified | Uncertain significance (Dec 01, 2022) | ||
| 14-22981675-C-T | not specified | Uncertain significance (Jan 08, 2024) | ||
| 14-22981698-C-G | not specified | Likely benign (Jul 22, 2022) | ||
| 14-22981713-C-T | not specified | Uncertain significance (Aug 30, 2022) | ||
| 14-22981788-T-C | not specified | Uncertain significance (Jul 09, 2021) | ||
| 14-22981854-G-C | not specified | Uncertain significance (Jan 22, 2024) | ||
| 14-22981857-C-T | not specified | Uncertain significance (Mar 30, 2024) | ||
| 14-22981923-G-T | not specified | Uncertain significance (Oct 10, 2023) | ||
| 14-22981970-C-G | not specified | Uncertain significance (Oct 13, 2023) | ||
| 14-22982007-C-G | not specified | Uncertain significance (Jan 19, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AJUBA | protein_coding | protein_coding | ENST00000262713 | 8 | 11469 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.797 | 0.203 | 125738 | 0 | 10 | 125748 | 0.0000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.25 | 186 | 295 | 0.631 | 0.0000142 | 3380 |
| Missense in Polyphen | 50 | 88.273 | 0.56642 | 913 | ||
| Synonymous | 1.49 | 102 | 123 | 0.829 | 0.00000594 | 1143 |
| Loss of Function | 3.65 | 4 | 22.8 | 0.175 | 0.00000115 | 266 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.000225 | 0.000198 |
| East Asian | 0.0000549 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000486 | 0.0000439 |
| Middle Eastern | 0.0000549 | 0.0000544 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, mitosis, cell-cell adhesion, cell differentiation, proliferation and migration. Contributes to the linking and/or strengthening of epithelia cell- cell junctions in part by linking adhesive receptors to the actin cytoskeleton. May be involved in signal transduction from cell adhesion sites to the nucleus. Plays an important role in regulation of the kinase activity of AURKA for mitotic commitment. Also a component of the IL-1 signaling pathway modulating IL-1- induced NFKB1 activation by influencing the assembly and activity of the PRKCZ-SQSTM1-TRAF6 multiprotein signaling complex. Functions as an HDAC-dependent corepressor for a subset of GFI1 target genes. Acts as a transcriptional corepressor for SNAI1 and SNAI2/SLUG-dependent repression of E-cadherin transcription. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. Positively regulates microRNA (miRNA)-mediated gene silencing. Negatively regulates the Hippo signaling pathway and antagonizes phosphorylation of YAP1. {ECO:0000269|PubMed:12417594, ECO:0000269|PubMed:13678582, ECO:0000269|PubMed:15870274, ECO:0000269|PubMed:16413547, ECO:0000269|PubMed:17909014, ECO:0000269|PubMed:18805794, ECO:0000269|PubMed:20303269, ECO:0000269|PubMed:20616046, ECO:0000269|PubMed:22286099}.;
- Pathway
- Hippo signaling pathway - Homo sapiens (human);Hippo signaling pathway - multiple species - Homo sapiens (human);Interleukin-1 Induced Activation of NF-kappa-B;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Regulation of Hypoxia-inducible Factor (HIF) by oxygen;Cellular response to hypoxia;Cellular responses to stress;Aurora A signaling;Cellular responses to external stimuli;Regulation of PLK1 Activity at G2/M Transition;G2/M Transition;Mitotic G2-G2/M phases;E-cadherin signaling in keratinocytes;Cell Cycle;Cell Cycle, Mitotic
(Consensus)
Recessive Scores
- pRec
- 0.119
Haploinsufficiency Scores
- pHI
- 0.116
- hipred
- Y
- hipred_score
- 0.743
- ghis
- 0.480
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ajuba
- Phenotype
- cellular phenotype;
Zebrafish Information Network
- Gene name
- ajuba
- Affected structure
- atrium
- Phenotype tag
- abnormal
- Phenotype quality
- orientation
Gene ontology
- Biological process
- G2/M transition of mitotic cell cycle;negative regulation of transcription by RNA polymerase II;response to hypoxia;cytoskeleton organization;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;lamellipodium assembly;regulation of cell migration;positive regulation of cellular biosynthetic process;positive regulation of protein complex assembly;negative regulation of kinase activity;cellular protein localization;gene silencing by miRNA;wound healing, spreading of epidermal cells;negative regulation of hippo signaling;regulation of GTPase activity;positive regulation of I-kappaB kinase/NF-kappaB signaling;positive regulation of MAP kinase activity;glycerophospholipid biosynthetic process;focal adhesion assembly;regulation of cellular response to hypoxia;positive regulation of gene silencing by miRNA
- Cellular component
- P-body;nucleus;transcription factor complex;Golgi apparatus;microtubule organizing center;cytosol;plasma membrane;cell-cell junction;adherens junction;focal adhesion;lamellipodium
- Molecular function
- chromatin binding;transcription corepressor activity;protein binding;alpha-catenin binding;metal ion binding;actin filament binding