Human Gene Module / Chromosome 4 / BST1

BST1bone marrow stromal cell antigen 1

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
4 / 6
Rare Variants / Common Variants
2 / 3
Aliases
BST1, CD157
Associated Syndromes
-
Chromosome Band
4p15.32
Associated Disorders
-
Relevance to Autism

Two intronic SNPs in the BST1 gene were shown to have significantly higher allele frequencies in Japanese ASD cases compared to unaffected Japanese controls (rs4301112, OR=6.4, p=0.0007; and rs28532698, OR=6.2, p=0.0012) that remained significant after multiple testing correction in Yokoyama et al., 2015. BST1-knockout mice were shown to exhibit anxiety-related and depression-like behaviors, which could be rescued by anti-psychiatric drugs and oxytocin, in Lopatina et al., 2014. Higashida et al., 2017 demonstrated that social avoidance behavior in BST1-knockout mice could be rescued by intraperitoneal injection of oxytocin.

Molecular Function

Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to BST1 (6 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma Ceroni F , et al. (2014) Yes Asthma
2 Support Anxiety- and depression-like behavior in mice lacking the CD157/BST1 gene, a risk factor for Parkinson's disease Lopatina O , et al. (2014) No -
3 Primary Association Study between the CD157/BST1 Gene and Autism Spectrum Disorders in a Japanese Population Yokoyama S , et al. (2015) Yes -
4 Recent Recommendation An immunohistochemical, enzymatic, and behavioral study of CD157/BST-1 as a neuroregulator Higashida H , et al. (2017) No -
5 Negative Association A study of single nucleotide polymorphisms in CD157, AIM2 and JARID2 genes in Han Chinese children with autism spectrum disorder Mo W , et al. (2017) Yes -
6 Support - Cirnigliaro M et al. (2023) Yes -
Rare Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss Familial Maternal Multiplex 24634087 Ceroni F , et al. (2014)
c.534+1G>A - splice_site_variant Familial Paternal Multiplex 37506195 Cirnigliaro M et al. (2023)
Common Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.791+1003T>C;c.617+1003T>C;c.413+1003T>C - intron_variant - - - 26010484 Yokoyama S , et al. (2015)
c.792-1925C>T;c.618-1925C>T;c.414-1925C>T - intron_variant - - - 26010484 Yokoyama S , et al. (2015)
c.612-104T>C;c.438-104T>C;c.234-104T>C - intron_variant - - - 26010484 Yokoyama S , et al. (2015)
SFARI Gene score
2

Strong Candidate

Two intronic SNPs in the BST1 gene were shown to have significantly higher allele frequencies in Japanese ASD cases compared to unaffected Japanese controls (rs4301112, OR=6.4, p=0.0007; and rs28532698, OR=6.2, p=0.0012) that remained significant after multiple testing correction in Yokoyama et al., 2015. BST1-knockout mice were shown to exhibit anxiety-related and depression-like behaviors, which could be rescued by anti-psychiatric drugs and oxytocin, in Lopatina et al., 2014. Higashida et al., 2017 demonstrated that social avoidance behavior in BST1-knockout mice could be rescued by intraperitoneal injection of oxytocin.

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

Two intronic SNPs in the BST1 gene were shown to have significantly higher allele frequencies in Japanese ASD cases compared to unaffected Japanese controls (rs4301112, OR=6.4, p=0.0007; and rs28532698, OR=6.2, p=0.0012) that remained significant after multiple testing correction in Yokoyama et al., 2015. BST1-knockout mice were shown to exhibit anxiety-related and depression-like behaviors, which could be rescued by anti-psychiatric drugs and oxytocin, in Lopatina et al., 2014. Higashida et al., 2017 demonstrated that social avoidance behavior in BST1-knockout mice could be rescued by intraperitoneal injection of oxytocin.

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

Two intronic SNPs in the BST1 gene were shown to have significantly higher allele frequencies in Japanese ASD cases compared to unaffected Japanese controls (rs4301112, OR=6.4, p=0.0007; and rs28532698, OR=6.2, p=0.0012) that remained significant after multiple testing correction in Yokoyama et al., 2015. BST1-knockout mice were shown to exhibit anxiety-related and depression-like behaviors, which could be rescued by anti-psychiatric drugs and oxytocin, in Lopatina et al., 2014. Higashida et al., 2017 demonstrated that social avoidance behavior in BST1-knockout mice could be rescued by intraperitoneal injection of oxytocin.

Reports Added
[New Scoring Scheme]
4/1/2017
icon
4

Increased from to 4

Description

Two intronic SNPs in the BST1 gene were shown to have significantly higher allele frequencies in Japanese ASD cases compared to unaffected Japanese controls (rs4301112, OR=6.4, p=0.0007; and rs28532698, OR=6.2, p=0.0012) that remained significant after multiple testing correction in Yokoyama et al., 2015. BST1-knockout mice were shown to exhibit anxiety-related and depression-like behaviors, which could be rescued by anti-psychiatric drugs and oxytocin, in Lopatina et al., 2014. Higashida et al., 2017 demonstrated that social avoidance behavior in BST1-knockout mice could be rescued by intraperitoneal injection of oxytocin.

Krishnan Probability Score

Score 0.42091445211177

Ranking 21141/25841 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 2.8128435526923E-8

Ranking 15979/18225 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 0.94307441293304

Ranking 15548/18665 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
Zhang D Score

Score -0.13446965026468

Ranking 13640/20870 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
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