AutismKB 2.0

Evidence Details for HTR3C


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Basic Information Top
Gene Symbol:HTR3C ( - )
Gene Full Name: 5-hydroxytryptamine (serotonin) receptor 3, family member C
Band: 3q27.1
Quick LinksEntrez ID:170572; OMIM: 610121; Uniprot ID:5HT3C_HUMAN; ENSEMBL ID: ENSG00000178084; HGNC ID: 24003
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HTR3C|170572|nucleotide
ATGGAAGGAGGGTGGCCTGCAAGGCAGAGTGCCCTCCTCTGCCTCACTGTCAGTCTTCTGCTTCAAGGAAGAGGCGACGCTTTTACCATCAATTGCTCAGGCTTT
GACCAGCATGGGGTTGACCCTGCTGTCTTCCAAGCAGTGTTTGACAGAAAGGCCTTCCGTCCATTCACCAACTACAGCATCCCTACCCGTGTCAACATCTCCTTC
ACCCTGTCTGCCATCCTGGGAGTGGATGCACAGCTCCAGCTGCTGACATCATTCCTGTGGATGGATTTGGTATGGGACAATCCTTTCATTAATTGGAACCCAAAA
GAGTGTGTTGGCATCAATAAACTCACAGTATTAGCTGAAAACCTGTGGCTCCCAGACATCTTCATCGTGGAATCCATGGATGTGGATCAGACGCCTTCCGGTCTC
ACTGCCTATATCAGCAGTGAAGGTCGAATTAAGTATGATAAGCCAATGAGGGTGACCAGCATCTGTAACCTGGACATCTTCTACTTCCCTTTTGACCAACAGAAC
TGTACCTTCACCTTCAGTTCTTTCCTCTACACAGTGGACAGCATGCTGCTGGGCATGGACAAGGAGGTGTGGGAGATCACAGACACGTCTCGCAAAGTCATCCAA
ACCCAGGGGGAGTGGGAGCTCTTGGGCATCAACAAGGCCACCCCAAAGATGTCCATGGGCAACAACCTATATGACCAGATCATGTTTTATGTGGCCATCAGGCGC
AGGCCAAGCCTCTACATCATAAACCTGCTGGTGCCCAGTAGCTTTCTGGTTGCCATTGATGCCCTCAGCTTCTACCTGCCAGCAGAGAGCGAGAATCGTGCCCCA
TTCAAGATAACACTTCTGCTGGGCTACAACGTCTTCCTGCTCATGATGAATGACTTGCTCCCTGCCAGTGGCACCCCCCTCATCAGTGTCTACTTCGCCCTGTGC
CTGTCCCTGATGGTGGTCAGCCTGCTGGAGACCGTCTTCATTACCTACCTGCTGCACGTGGCCACCACCCAGCCCCCACCCATGCCTAGGTGGCTTCACTCCCTG
CTGCTCCACTGCACCAGCCCAGGGAGATGCTGTCCCACTGCGCCCCAGAAGGGAAATAAGGGCCTGGGTCTCACCCTCACCCACCTGCCTGGCCCAAAGGAGCCG
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>HTR3C|170572|protein
MEGGWPARQSALLCLTVSLLLQGRGDAFTINCSGFDQHGVDPAVFQAVFDRKAFRPFTNYSIPTRVNISFTLSAILGVDAQLQLLTSFLWMDLVWDNPFINWNPK
ECVGINKLTVLAENLWLPDIFIVESMDVDQTPSGLTAYISSEGRIKYDKPMRVTSICNLDIFYFPFDQQNCTFTFSSFLYTVDSMLLGMDKEVWEITDTSRKVIQ
TQGEWELLGINKATPKMSMGNNLYDQIMFYVAIRRRPSLYIINLLVPSSFLVAIDALSFYLPAESENRAPFKITLLLGYNVFLLMMNDLLPASGTPLISVYFALC
LSLMVVSLLETVFITYLLHVATTQPPPMPRWLHSLLLHCTSPGRCCPTAPQKGNKGLGLTLTHLPGPKEPGELAGKKLGPRETEPDGGSGWTKTQLMELWVQFSH
AMDTLLFRLYLLFMASSILTVIVLWNT
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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 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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