PIBF1
Basic information
Region (hg38): 13:72782132-73016461
Previous symbols: [ "C13orf24" ]
Links
Phenotypes
GenCC
Source:
- Joubert syndrome 33 (Definitive), mode of inheritance: AR
- Joubert syndrome 33 (Strong), mode of inheritance: AR
- Joubert syndrome (Supportive), mode of inheritance: AR
- ciliopathy (Moderate), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Joubert syndrome 33 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Craniofacial; Neurologic; Renal | 26167768; 29695797; 30858804 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (3 variants)
- Joubert syndrome 33 (1 variants)
- Inborn genetic diseases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIBF1 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 | 24 | 26 | ||||
missense | 50 | 63 | ||||
nonsense | 5 | |||||
start loss | 0 | |||||
frameshift | 6 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 2 | 2 | ||||
non coding | 17 | |||||
Total | 4 | 9 | 53 | 39 | 13 |
Highest pathogenic variant AF is 0.0000723
Variants in PIBF1
This is a list of pathogenic ClinVar variants found in the PIBF1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
13-72783477-G-A | Inborn genetic diseases | Uncertain significance (Apr 14, 2022) | ||
13-72783482-A-G | Inborn genetic diseases | Uncertain significance (Dec 19, 2023) | ||
13-72783562-G-A | Benign (Jan 13, 2024) | |||
13-72783571-T-G | Likely benign (Jun 23, 2023) | |||
13-72783587-C-T | Pathogenic (Jan 24, 2024) | |||
13-72783603-G-C | Inborn genetic diseases | Uncertain significance (Aug 10, 2021) | ||
13-72783620-A-G | not specified | Benign/Likely benign (Dec 01, 2023) | ||
13-72783626-C-T | Pathogenic (Jan 24, 2024) | |||
13-72783638-C-T | Uncertain significance (Oct 07, 2022) | |||
13-72783681-C-G | Inborn genetic diseases | Uncertain significance (Mar 31, 2022) | ||
13-72783687-T-C | not specified • PIBF1-related disorder | Benign (Jul 17, 2023) | ||
13-72783692-G-A | Inborn genetic diseases | Uncertain significance (Nov 23, 2022) | ||
13-72783707-G-T | Uncertain significance (Feb 25, 2022) | |||
13-72792431-T-C | Benign (Jan 19, 2024) | |||
13-72792477-G-A | Inborn genetic diseases | Uncertain significance (Sep 27, 2021) | ||
13-72792525-G-A | Inborn genetic diseases | Likely benign (Dec 01, 2022) | ||
13-72792557-G-GT | Benign (Apr 28, 2022) | |||
13-72792566-A-T | Benign (Jan 29, 2024) | |||
13-72795392-A-G | PIBF1-related disorder | Likely benign (Dec 06, 2023) | ||
13-72795453-G-A | Inborn genetic diseases | Uncertain significance (Apr 14, 2022) | ||
13-72795462-C-T | Inborn genetic diseases | Uncertain significance (Dec 27, 2022) | ||
13-72795474-C-T | PIBF1-related disorder | Uncertain significance (Dec 19, 2023) | ||
13-72795481-T-G | Inborn genetic diseases | Uncertain significance (Jan 02, 2024) | ||
13-72795504-A-G | Joubert syndrome 33 | Benign (Jan 29, 2024) | ||
13-72795553-T-C | Inborn genetic diseases | Uncertain significance (Apr 01, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PIBF1 | protein_coding | protein_coding | ENST00000326291 | 17 | 234395 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.90e-11 | 1.00 | 125637 | 0 | 103 | 125740 | 0.000410 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.456 | 392 | 367 | 1.07 | 0.0000193 | 4961 |
Missense in Polyphen | 168 | 162.08 | 1.0365 | 2238 | ||
Synonymous | -0.813 | 138 | 126 | 1.09 | 0.00000605 | 1305 |
Loss of Function | 3.16 | 26 | 50.2 | 0.518 | 0.00000313 | 597 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00131 | 0.00122 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000406 | 0.000381 |
Finnish | 0.0000924 | 0.0000924 |
European (Non-Finnish) | 0.000508 | 0.000484 |
Middle Eastern | 0.000406 | 0.000381 |
South Asian | 0.000551 | 0.000490 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in ciliogenesis. {ECO:0000269|PubMed:26167768}.; FUNCTION: Isoform 4: The secreted form is a mediator of progesterone that by acting on the phospholipase A2 enzyme interferes with arachidonic acid metabolism, induces a Th2 biased immune response, and by controlling decidual naturakl killer cells (NK) activity exerts an anti-abortive effect (PubMed:14634107, PubMed:3863495, PubMed:12516630). Increases the production of Th2- type cytokines by signaling via the JAK/STAT pathway. Activates STAT6 and inhibits STAT4 phosphorylation. Signaling via a not identified receptor seems to implicate IL4R and a GPI-anchored protein (PubMed:16393965, PubMed:25218441). {ECO:0000269|PubMed:12516630, ECO:0000269|PubMed:14634107, ECO:0000269|PubMed:16393965, ECO:0000269|PubMed:25218441, ECO:0000269|PubMed:3863495, ECO:0000305|PubMed:11407300}.;
- Disease
- DISEASE: Note=May be associated with microcephaly. {ECO:0000305|PubMed:26297806}.; DISEASE: Joubert syndrome 33 (JBTS33) [MIM:617767]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS33 inheritance is autosomal recessive. {ECO:0000269|PubMed:26167768}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.0850
Intolerance Scores
- loftool
- 0.941
- rvis_EVS
- 0.43
- rvis_percentile_EVS
- 77.29
Haploinsufficiency Scores
- pHI
- 0.343
- hipred
- N
- hipred_score
- 0.492
- ghis
- 0.530
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.549
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pibf1
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo 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); growth/size/body region 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;
Gene ontology
- Biological process
- immune system process;mitotic metaphase plate congression;negative regulation of prostaglandin biosynthetic process;negative regulation of interleukin-12 production;positive regulation of interleukin-10 production;negative regulation of natural killer cell activation;positive regulation of tyrosine phosphorylation of STAT protein;negative regulation of tyrosine phosphorylation of STAT protein;activation of Janus kinase activity;cilium assembly;protein localization to centrosome;mitotic spindle assembly;non-motile cilium assembly
- Cellular component
- extracellular space;nucleus;centrosome;microtubule organizing center;centriolar satellite
- Molecular function
- interleukin-4 receptor binding;protein binding