AutismKB 2.0

Evidence Details for HTR1B


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Basic Information Top
Gene Symbol:HTR1B ( 5-HT1B,5-HT1DB,HTR1D2,HTR1DB,S12 )
Gene Full Name: 5-hydroxytryptamine (serotonin) receptor 1B
Band: 6q14.1
Quick LinksEntrez ID:3351; OMIM: 182131; Uniprot ID:5HT1B_HUMAN; ENSEMBL ID: ENSG00000135312; HGNC ID: 5287
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HTR1B|3351|nucleotide
ATGGAGGAACCGGGTGCTCAGTGCGCTCCACCGCCGCCCGCGGGCTCCGAGACCTGGGTTCCTCAAGCCAACTTATCCTCTGCTCCCTCCCAAAACTGCAGCGCC
AAGGACTACATTTACCAGGACTCCATCTCCCTACCCTGGAAAGTACTGCTGGTTATGCTATTGGCGCTCATCACCTTGGCCACCACGCTCTCCAATGCCTTTGTG
ATTGCCACAGTGTACCGGACCCGGAAACTGCACACCCCGGCTAACTACCTGATCGCCTCTCTGGCGGTCACCGACCTGCTTGTGTCCATCCTGGTGATGCCCATC
AGCACCATGTACACTGTCACCGGCCGCTGGACACTGGGCCAGGTGGTCTGTGACTTCTGGCTGTCGTCGGACATCACTTGTTGCACTGCCTCCATCCTGCACCTC
TGTGTCATCGCCCTGGACCGCTACTGGGCCATCACGGACGCCGTGGAGTACTCAGCTAAAAGGACTCCCAAGAGGGCGGCGGTCATGATCGCGCTGGTGTGGGTC
TTCTCCATCTCTATCTCGCTGCCGCCCTTCTTCTGGCGTCAGGCTAAGGCCGAAGAGGAGGTGTCGGAATGCGTGGTGAACACCGACCACATCCTCTACACGGTC
TACTCCACGGTGGGTGCTTTCTACTTCCCCACCCTGCTCCTCATCGCCCTCTATGGCCGCATCTACGTAGAAGCCCGCTCCCGGATTTTGAAACAGACGCCCAAC
AGGACCGGCAAGCGCTTGACCCGAGCCCAGCTGATAACCGACTCCCCCGGGTCCACGTCCTCGGTCACCTCTATTAACTCGCGGGTTCCCGACGTGCCCAGCGAA
TCCGGATCTCCTGTGTATGTGAACCAAGTCAAAGTGCGAGTCTCCGACGCCCTGCTGGAAAAGAAGAAACTCATGGCCGCTAGGGAGCGCAAAGCCACCAAGACC
CTAGGGATCATTTTGGGAGCCTTTATTGTGTGTTGGCTACCCTTCTTCATCATCTCCCTAGTGATGCCTATCTGCAAAGATGCCTGCTGGTTCCACCTAGCCATC
TTTGACTTCTTCACATGGCTGGGCTATCTCAACTCCCTCATCAACCCCATAATCTATACCATGTCCAATGAGGACTTTAAACAAGCATTCCATAAACTGATACGT
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>HTR1B|3351|protein
MEEPGAQCAPPPPAGSETWVPQANLSSAPSQNCSAKDYIYQDSISLPWKVLLVMLLALITLATTLSNAFVIATVYRTRKLHTPANYLIASLAVTDLLVSILVMPI
STMYTVTGRWTLGQVVCDFWLSSDITCCTASILHLCVIALDRYWAITDAVEYSAKRTPKRAAVMIALVWVFSISISLPPFFWRQAKAEEEVSECVVNTDHILYTV
YSTVGAFYFPTLLLIALYGRIYVEARSRILKQTPNRTGKRLTRAQLITDSPGSTSSVTSINSRVPDVPSESGSPVYVNQVKVRVSDALLEKKKLMAARERKATKT
LGIILGAFIVCWLPFFIISLVMPICKDACWFHLAIFDFFTWLGYLNSLINPIIYTMSNEDFKQAFHKLIRFKCTS

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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (2) 0 (0) 1 (2) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 1
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Orabona, 2009_1 Brazil SNuPE? (Single Nucleotide Primer Extension, GE Healthcare?)/sequencing/FAM labeled primers flanking the repeatASD 11.68±6.13
-
- -
(-)
-
-
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018