Human Gene Module / Chromosome 8 / CYP11B1

CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 1

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
1 / 4
Rare Variants / Common Variants
0 / 2
Aliases
CYP11B1, FHI,  CPN1,  CYP11B,  P450C11,  FLJ36771,  DKFZp686B05283
Associated Syndromes
-
Chromosome Band
8q24.3
Associated Disorders
ASD
Relevance to Autism

Genetic association has been found between the CYP11B1 gene and both autism and Asperger syndrome (Chakrabarti et al., 2009).

Molecular Function

This gene encodes a member of the cytochrome P450 superfamily of enzymes participating in the conversion of progesterone to cortisol in the adrenal cortex.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to CYP11B1 (4 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Expression of 11beta-hydroxylase and aldosterone synthase genes in the rat brain MacKenzie SM , et al. (2000) No -
2 Recent Recommendation Cyp11b1 null mouse, a model of congenital adrenal hyperplasia Mullins LJ , et al. (2008) No -
3 Primary Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome Chakrabarti B , et al. (2009) Yes Asperger syndrome
4 Highly Cited Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8 Curnow KM , et al. (1993) No -
Rare Variants  

No rare variants reported.

Common Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.771T>G;c.984T>G - missense_variant - - - 19598235 Chakrabarti B , et al. (2009)
c.1157C>T;c.1370C>T - missense_variant - - - 19598235 Chakrabarti B , et al. (2009)
SFARI Gene score
2

Strong Candidate

In a gene-based study by Chakrabarti et al (2009), CYP11B1 showed significant association with autistic traits in a population-based sample and in patients with high-functioning autism. This study has not been replicated. Positive association has not been shown in genome-wide studies.

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
2

Strong Candidate

See all Category 2 Genes

We 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
3
icon
2

Decreased from 3 to 2

Description

In a gene-based study by Chakrabarti et al (2009), CYP11B1 showed significant association with autistic traits in a population-based sample and in patients with high-functioning autism. This study has not been replicated. Positive association has not been shown in genome-wide studies.

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

In a gene-based study by Chakrabarti et al (2009), CYP11B1 showed significant association with autistic traits in a population-based sample and in patients with high-functioning autism. This study has not been replicated. Positive association has not been shown in genome-wide studies.

Reports Added
[New Scoring Scheme]
7/1/2014
No data
icon
4

Increased from No data to 4

Description

In a gene-based study by Chakrabarti et al (2009), CYP11B1 showed significant association with autistic traits in a population-based sample and in patients with high-functioning autism. This study has not been replicated. Positive association has not been shown in genome-wide studies.

4/1/2014
No data
icon
4

Increased from No data to 4

Description

In a gene-based study by Chakrabarti et al (2009), CYP11B1 showed significant association with autistic traits in a population-based sample and in patients with high-functioning autism. This study has not been replicated. Positive association has not been shown in genome-wide studies.

Krishnan Probability Score

Score 0.48928976753761

Ranking 6525/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
Original Source
ExAC Score

Score 0.0014339318816204

Ranking 11512/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Original Source
Sanders TADA Score

Score 0.93251245562289

Ranking 12001/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Original Source
Larsen Cumulative Evidence Score

Score 2

Ranking 377/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Original Source
Zhang D Score

Score -0.067377882333337

Ranking 11079/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Original Source
External PIN Data
BioGRIDHuman Protein Reference Database
Interactome
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 Human Direct Regulation 1583 P05108
ESRRA estrogen-related receptor alpha Human DNA Binding 2101 P11474
HCRT hypocretin (orexin) neuropeptide precursor Human Direct Regulation 3060 O43612
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