Human Gene Module / Chromosome 6 / HTR1B

HTR1B5-hydroxytryptamine (serotonin) receptor 1B

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
1 / 6
Rare Variants / Common Variants
1 / 1
Aliases
HTR1B, S12,  5-HT1B,  HTR1D2,  HTR1DB,  5-HT1DB,  HTR1B
Associated Syndromes
-
Chromosome Band
6q14.1
Associated Disorders
-
Relevance to Autism

Genetic association has been found between the HTR1B gene and autism in a Brazilian population cohort (Orabona et al., 2009).

Molecular Function

The encoded protein belongs to G-protein coupled receptor 1 family.

SFARI Genomic Platforms
Reports related to HTR1B (6 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Recent Recommendation Alterations in 5-HT1B receptor function by p11 in depression-like states Svenningsson P , et al. (2006) No -
2 Primary HTR1B and HTR2C in autism spectrum disorders in Brazilian families Orabona GM , et al. (2008) Yes -
3 Recent Recommendation Anabolic-androgenic steroid treatment induces behavioral disinhibition and downregulation of serotonin receptor messenger RNA in the prefrontal cortex and amygdala of male mice Ambar G and Chiavegatto S (2008) No -
4 Support Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy Klassen T , et al. (2011) No -
5 Highly Cited Enhanced aggressive behavior in mice lacking 5-HT1B receptor Saudou F , et al. (1994) No -
6 Highly Cited Increased vulnerability to cocaine in mice lacking the serotonin-1B receptor Rocha BA , et al. (1998) No -
Rare Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.139C>T p.Pro47Ser missense_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
Common Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.-182insCC - 2KB_upstream_variant - - - 19038234 Orabona GM , et al. (2008)
SFARI Gene score
2

Strong Candidate

There is minimal evidence for the role of HTR1B in autism. In a single study looking at 7 SNPs in HTR1B and HTR1C in 252 autism cases, the authors found undertransmission of HTR1B haplotype in affected individuals (p=0.003).

Score Delta: Score remained at 2

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
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2

Decreased from 3 to 2

Description

There is minimal evidence for the role of HTR1B in autism. In a single study looking at 7 SNPs in HTR1B and HTR1C in 252 autism cases, the authors found undertransmission of HTR1B haplotype in affected individuals (p=0.003).

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

There is minimal evidence for the role of HTR1B in autism. In a single study looking at 7 SNPs in HTR1B and HTR1C in 252 autism cases, the authors found undertransmission of HTR1B haplotype in affected individuals (p=0.003).

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

Increased from No data to 4

Description

There is minimal evidence for the role of HTR1B in autism. In a single study looking at 7 SNPs in HTR1B and HTR1C in 252 autism cases, the authors found undertransmission of HTR1B haplotype in affected individuals (p=0.003).

4/1/2014
No data
icon
4

Increased from No data to 4

Description

There is minimal evidence for the role of HTR1B in autism. In a single study looking at 7 SNPs in HTR1B and HTR1C in 252 autism cases, the authors found undertransmission of HTR1B haplotype in affected individuals (p=0.003).

Krishnan Probability Score

Score 0.49115684668458

Ranking 5751/25841 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.
ExAC Score

Score 0.64555951698225

Ranking 4763/18225 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
Sanders TADA Score

Score 0.93104778116134

Ranking 11593/18665 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).
Larsen Cumulative Evidence Score

Score 5

Ranking 284/461 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.
Zhang D Score

Score -0.065214316957033

Ranking 10989/20870 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.
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
CD209 CD209 antigen Human Protein Binding 30835 Q9NNX6-2
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