PBXIP1
Basic information
Region (hg38): 1:154944075-154956123
Links
Phenotypes
GenCC
Source:
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 PBXIP1 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 | 3 | |||||
missense | 44 | 47 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 44 | 6 | 0 |
Variants in PBXIP1
This is a list of pathogenic ClinVar variants found in the PBXIP1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-154945031-C-T | not specified | Uncertain significance (May 31, 2023) | ||
1-154945032-G-A | not specified | Uncertain significance (Dec 20, 2023) | ||
1-154945049-C-T | not specified | Uncertain significance (Jun 27, 2022) | ||
1-154945116-A-G | not specified | Uncertain significance (Mar 20, 2023) | ||
1-154945705-G-A | not specified | Uncertain significance (Aug 31, 2022) | ||
1-154945716-C-T | not specified | Uncertain significance (May 23, 2023) | ||
1-154945725-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
1-154945749-A-C | not specified | Uncertain significance (Dec 08, 2023) | ||
1-154945758-G-A | not specified | Uncertain significance (May 24, 2024) | ||
1-154945809-T-A | not specified | Uncertain significance (Sep 17, 2021) | ||
1-154945827-G-A | not specified | Uncertain significance (May 28, 2024) | ||
1-154945866-A-G | not specified | Uncertain significance (Dec 13, 2021) | ||
1-154945893-C-T | not specified | Uncertain significance (Nov 10, 2022) | ||
1-154945897-C-T | not specified | Uncertain significance (Oct 03, 2022) | ||
1-154945926-C-T | not specified | Uncertain significance (May 20, 2024) | ||
1-154945998-C-T | not specified | Likely benign (Feb 06, 2024) | ||
1-154946186-T-G | not specified | Uncertain significance (Feb 12, 2024) | ||
1-154946199-T-C | not specified | Uncertain significance (Jan 22, 2024) | ||
1-154946220-C-T | not specified | Uncertain significance (Oct 26, 2022) | ||
1-154946279-G-T | not specified | Uncertain significance (Oct 12, 2022) | ||
1-154946310-T-C | not specified | Uncertain significance (Feb 12, 2024) | ||
1-154946375-G-A | Likely benign (Oct 01, 2023) | |||
1-154946410-C-T | not specified | Uncertain significance (Feb 23, 2023) | ||
1-154946412-C-A | not specified | Uncertain significance (Feb 24, 2022) | ||
1-154946413-G-A | not specified | Uncertain significance (Sep 22, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PBXIP1 | protein_coding | protein_coding | ENST00000368463 | 10 | 12048 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
9.79e-11 | 0.906 | 125650 | 0 | 98 | 125748 | 0.000390 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.793 | 363 | 408 | 0.890 | 0.0000232 | 4726 |
Missense in Polyphen | 95 | 122.64 | 0.77463 | 1477 | ||
Synonymous | 1.31 | 145 | 167 | 0.870 | 0.00000856 | 1486 |
Loss of Function | 1.91 | 21 | 32.8 | 0.640 | 0.00000159 | 353 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00102 | 0.00100 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000979 | 0.000979 |
Finnish | 0.0000959 | 0.0000924 |
European (Non-Finnish) | 0.000363 | 0.000352 |
Middle Eastern | 0.000979 | 0.000979 |
South Asian | 0.000524 | 0.000523 |
Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Regulator of pre-B-cell leukemia transcription factors (BPXs) function. Inhibits the binding of PBX1-HOX complex to DNA and blocks the transcriptional activity of E2A-PBX1. Tethers estrogen receptor-alpha (ESR1) to microtubules and allows them to influence estrogen receptors-alpha signaling. {ECO:0000269|PubMed:10825160, ECO:0000269|PubMed:12360403, ECO:0000269|PubMed:17043237}.;
Recessive Scores
- pRec
- 0.0906
Intolerance Scores
- loftool
- 0.936
- rvis_EVS
- -0.02
- rvis_percentile_EVS
- 52.28
Haploinsufficiency Scores
- pHI
- 0.0791
- hipred
- N
- hipred_score
- 0.145
- ghis
- 0.433
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.373
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pbxip1
- Phenotype
Gene ontology
- Biological process
- multicellular organism development;cell differentiation;negative regulation of transcription, DNA-templated
- Cellular component
- nucleus;cytosol;microtubule
- Molecular function
- transcription corepressor activity;protein binding