AutismKB 2.0

Evidence Details for SLC1A3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC1A3 ( EA6,EAAT1,FLJ25094,GLAST,GLAST1 )
Gene Full Name: solute carrier family 1 (glial high affinity glutamate transporter), member 3
Band: 5p13.2
Quick LinksEntrez ID:6507; OMIM: 600111; Uniprot ID:EAA1_HUMAN; ENSEMBL ID: ENSG00000079215; HGNC ID: 10941
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC1A3|6507|nucleotide
ATGACTAAAAGCAATGGAGAAGAGCCCAAGATGGGGGGCAGGATGGAGAGATTCCAGCAGGGAGTCCGTAAACGCACACTTTTGGCCAAGAAGAAAGTGCAGAAC
ATTACAAAGGAGGATGTTAAAAGTTACCTGTTTCGGAATGCTTTTGTGCTGCTCACAGTCACCGCTGTCATTGTGGGTACAATCCTTGGATTTACCCTCCGACCA
TACAGAATGAGCTACCGGGAAGTCAAGTACTTCTCCTTTCCTGGGGAACTTCTGATGAGGATGTTACAGATGCTGGTCTTACCACTTATCATCTCCAGTCTTGTC
ACAGGAATGGCGGCGCTAGATAGTAAGGCATCAGGGAAGATGGGAATGCGAGCTGTAGTCTATTATATGACTACCACCATCATTGCTGTGGTGATTGGCATAATC
ATTGTCATCATCATCCATCCTGGGAAGGGCACAAAGGAAAACATGCACAGAGAAGGCAAAATTGTACGAGTGACAGCTGCAGATGCCTTCCTGGACTTGATCAGG
AACATGTTCCCTCCAAATCTGGTAGAAGCCTGCTTTAAACAGTTTAAAACCAACTATGAGAAGAGAAGCTTTAAAGTGCCCATCCAGGCCAACGAAACGCTTGTG
GGTGCTGTGATAAACAATGTGTCTGAGGCCATGGAGACTCTTACCCGAATCACAGAGGAGCTGGTCCCAGTTCCAGGATCTGTGAATGGAGTCAATGCCCTGGGT
CTAGTTGTCTTCTCCATGTGCTTCGGTTTTGTGATTGGAAACATGAAGGAACAGGGGCAGGCCCTGAGAGAGTTCTTTGATTCTCTTAACGAAGCCATCATGAGA
CTGGTAGCAGTAATAATGTGGTATGCCCCCGTGGGTATTCTCTTCCTGATTGCTGGGAAGATTGTGGAGATGGAAGACATGGGTGTGATTGGGGGGCAGCTTGCC
ATGTACACCGTGACTGTCATTGTTGGCTTACTCATTCACGCAGTCATCGTCTTGCCACTCCTCTACTTCTTGGTAACACGGAAAAACCCTTGGGTTTTTATTGGA
GGGTTGCTGCAAGCACTCATCACCGCTCTGGGGACCTCTTCAAGTTCTGCCACCCTACCCATCACCTTCAAGTGCCTGGAAGAGAACAATGGCGTGGACAAGCGC
Show »

>SLC1A3|6507|protein
MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIVGTILGFTLRPYRMSYREVKYFSFPGELLMRMLQMLVLPLIISSLV
TGMAALDSKASGKMGMRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGKIVRVTAADAFLDLIRNMFPPNLVEACFKQFKTNYEKRSFKVPIQANETLV
GAVINNVSEAMETLTRITEELVPVPGSVNGVNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGKIVEMEDMGVIGGQLA
MYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITALGTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMDGTALYEALAAIFIAQVNNFE
LNFGQIITIRDRLRTTTNVLGDSLGAGIVEHLSRHELKNRDVEMGNSVIEENEMKKPYQLIAQDNETEKPIDSETKM
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 0 (0) 1 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
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
Kaufman CS, 2016 - ---autism - - - - 1 - 1
van Amen-Hellebrekers CJ, 2016 - ---autism - - - - 2 - 2
Linkage Studies Top