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.

External Links
Gene CardOpen Targets PlatformgnomAD browserSynGO portalPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
Mouse
Entrez GeneMouse Genome InformaticsAllen Brain Atlas
SFARI Genomic Platforms
GPF browser SFARI genome browser
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

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

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
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).

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.
Original Source
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
Original Source
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).
Original Source
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.
Original Source
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.
Original Source
Interactome
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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