AutismKB 2.0

Evidence Details for SLC22A3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC22A3 ( EMT,EMTH,OCT3 )
Gene Full Name: solute carrier family 22 (extraneuronal monoamine transporter), member 3
Band: 6q25.3
Quick LinksEntrez ID:6581; OMIM: 604842; Uniprot ID:S22A3_HUMAN; ENSEMBL ID: ENSG00000146477; HGNC ID: 10967
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC22A3|6581|nucleotide
ATGCCCTCCTTCGACGAGGCGCTGCAGCGGGTGGGCGAGTTCGGGCGCTTCCAGAGGCGCGTGTTTTTGCTGCTGTGCCTGACGGGCGTCACCTTCGCCTTCCTC
TTCGTCGGCGTGGTCTTCCTGGGCACGCAGCCCGACCACTACTGGTGCCGCGGGCCAAGTGCCGCGGCGCTGGCCGAGCGCTGCGGCTGGAGCCCGGAGGAGGAG
TGGAACCGCACGGCGCCCGCCTCCCGCGGCCCAGAGCCCCCCGAGCGCCGCGGCCGCTGCCAGCGCTACCTCCTGGAGGCGGCCAACGACAGCGCCTCCGCCACT
AGCGCTCTCAGCTGCGCGGACCCACTCGCCGCCTTCCCCAACCGTTCGGCTCCCCTTGTGCCGTGCCGCGGCGGCTGGCGCTACGCCCAGGCCCACTCCACCATC
GTCAGCGAGTTTGACCTTGTCTGTGTCAATGCGTGGATGCTGGACCTCACCCAAGCCATCCTGAACCTCGGCTTCCTGACTGGAGCATTCACCTTAGGCTATGCA
GCAGACAGGTATGGCAGGATCGTCATTTACTTGCTATCCTGCCTTGGTGTTGGCGTCACTGGGGTTGTGGTGGCCTTTGCACCAAACTTCCCTGTGTTTGTGATC
TTCCGCTTCCTGCAAGGTGTATTTGGAAAGGGGACGTGGATGACTTGCTACGTGATTGTGACAGAAATAGTAGGTTCGAAACAAAGGAGGATTGTGGGAATCGTG
ATTCAAATGTTCTTTACCCTTGGAATCATAATTCTCCCTGGAATTGCCTACTTCATCCCCAACTGGCAAGGAATCCAGTTAGCCATCACGCTGCCCAGCTTTCTC
TTCCTCCTTTATTACTGGGTGGTCCCTGAGTCTCCCCGTTGGCTGATTACTCGGAAGAAAGGAGATAAAGCATTACAGATCCTGAGACGCATTGCTAAGTGCAAT
GGGAAATACCTCTCATCAAATTACTCAGAGATCACTGTTACAGATGAGGAAGTTAGTAATCCATCCTTTTTAGATCTGGTGAGAACTCCCCAAATGAGGAAATGC
ACACTTATTCTTATGTTTGCTTGGTTCACAAGCGCAGTGGTGTATCAAGGACTTGTCATGCGCCTGGGAATTATAGGGGGCAACCTCTATATAGACTTTTTCATC
Show »

>SLC22A3|6581|protein
MPSFDEALQRVGEFGRFQRRVFLLLCLTGVTFAFLFVGVVFLGTQPDHYWCRGPSAAALAERCGWSPEEEWNRTAPASRGPEPPERRGRCQRYLLEAANDSASAT
SALSCADPLAAFPNRSAPLVPCRGGWRYAQAHSTIVSEFDLVCVNAWMLDLTQAILNLGFLTGAFTLGYAADRYGRIVIYLLSCLGVGVTGVVVAFAPNFPVFVI
FRFLQGVFGKGTWMTCYVIVTEIVGSKQRRIVGIVIQMFFTLGIIILPGIAYFIPNWQGIQLAITLPSFLFLLYYWVVPESPRWLITRKKGDKALQILRRIAKCN
GKYLSSNYSEITVTDEEVSNPSFLDLVRTPQMRKCTLILMFAWFTSAVVYQGLVMRLGIIGGNLYIDFFISGVVELPGALLILLTIERLGRRLPFAASNIVAGVA
CLVTAFLPEGIAWLRTTVATLGRLGITMAFEIVYLVNSELYPTTLRNFGVSLCSGLCDFGGIIAPFLLFRLAAVWLELPLIIFGILASICGGLVMLLPETKGIAL
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
MIXED/OTHERS
Anney R, 2012_1 - Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray 1301 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
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