PHB1prohibitin 1
Autism Reports / Total Reports
0 / 1Rare Variants / Common Variants
0 / 1Aliases
-Associated Syndromes
-Chromosome Band
17q21.33Associated Disorders
-Relevance to Autism
Analysis of genome-wide assocation study (GWAS) data from the Autism Genome Project (AGP) identified a SNP within the sixth intron of the PHB1 gene that significantly associated with ADI-R item 69 ('repetitive use of objects or interest in parts of objects'); this SNP resides in the promoter of the PHB1 gene and was shown to be significantly associated with thalamic volume (PHB1 is strongly expressed in the thalamus from prenatal to postnatal stages of development).
Molecular Function
This gene is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3' UTR, which is proposed to function as a trans-acting regulatory RNA.
External Links
SFARI Genomic Platforms
Reports related to PHB1 (1 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains | Cantor RM , et al. (2017) | No | - |
Rare Variants
No rare variants reported.
Common Variants (1)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.88+437C>T | - | intron_variant | - | - | - | 28533516 | Cantor RM , et al. (2017) |
SFARI Gene score
Strong Candidate
Analysis of genome-wide assocation study (GWAS) data from the Autism Genome Project (AGP) identified a SNP within the sixth intron of the PHB gene that significantly associated with ADI-R item 69 ('repetitive use of objects or interest in parts of objects'); this SNP resides in the promoter of the PHB gene and was shown to be significantly associated with thalamic volume (PHB is strongly expressed in the thalamus from prenatal to postnatal stages of development).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Increased from to 2
Description
Analysis of genome-wide assocation study (GWAS) data from the Autism Genome Project (AGP) identified a SNP within the sixth intron of the PHB gene that significantly associated with ADI-R item 69 ('repetitive use of objects or interest in parts of objects'); this SNP resides in the promoter of the PHB gene and was shown to be significantly associated with thalamic volume (PHB is strongly expressed in the thalamus from prenatal to postnatal stages of development).