AutismKB 2.0

Evidence Details for SLC43A2


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Basic Information Top
Gene Symbol:SLC43A2 ( FLJ23848,LAT4,MGC34680 )
Gene Full Name: solute carrier family 43, member 2
Band: 17p13.3
Quick LinksEntrez ID:124935; OMIM: 610791; Uniprot ID:LAT4_HUMAN; ENSEMBL ID: ENSG00000167703; HGNC ID: 23087
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC43A2|124935|nucleotide
ATGGCGCCCACCCTGGCCACTGCCCATCGGCGCCGCTGGTGGATGGCCTGCACGGCCGTGCTGGAGAACCTCCTCTTCTCGGCAGTCCTCCTGGGCTGGGGCTCG
CTGCTCATCATGCTCAAGTCAGAGGGCTTTTACTCCTACCTGTGTACCGAGCCAGAGAATGTCACCAATGGCACAGTGGGCGGCACAGCAGAGCCGGGGCACGAG
GAGGTGAGCTGGATGAACGGCTGGCTCAGCTGCCAGGCCCAGGACGAGATGCTAAATTTGGCCTTCACTGTGGGCTCCTTTCTGCTCAGTGCCATCACCCTGCCC
CTGGGTATCGTCATGGACAAGTATGGCCCGAGGAAGCTCAGGCTGCTGGGCAGCGCCTGCTTCGCGGTTTCCTGCTTGCTGATTGCGTACGGAGCAAGTAAACCA
AACGCTCTCTCCGTGCTCATCTTCATCGCCCTGGCTCTGAATGGCTTTGGTGGGATGTGTATGACCTTCACCTCATTAACACTGCCCAACATGTTCGGCGACCTT
CGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGCTCATCTATGATGCTGGTGTCTCCTTCATCGTCGTC
CTCGTGGTCTGGGCCGGCTGCTCCGGGCTGGTTTTCCTCAACTGCTTCTTTAACTGGCCCCTTGAGCCCTTCCCGGGGCCGGAGGACATGGACTACTCGGTGAAG
ATCAAGTTCAGCTGGCTGGGCTTTGACCACAAGATCACAGGGAAGCAGTTCTACAAGCAGGTGACCACGGTGGGCCGGCGCCTGAGTGTGGGCAGCTCCATGAGG
AGTGCCAAGGAGCAGGTGGCGCTGCAGGAGGGCCACAAGCTGTGCCTGTCCACCGTCGACCTGGAGGTGAAGTGCCAGCCGGATGCCGCAGTGGCCCCCTCCTTC
ATGCACAGCGTGTTCAGCCCCATCCTGCTGCTCAGCCTGGTCACCATGTGCGTCACGCAGCTGCGGCTCATCTTCTACATGGGGGCTATGAACAACATCCTCAAG
TTCCTGGTCAGCGGCGACCAGAAGACAGTTGGCCTCTACACCTCCATCTTCGGCGTGCTCCAGCTGCTGTGCCTGCTGACGGCCCCCGTCATTGGCTACATCATG
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>SLC43A2|124935|protein
MAPTLATAHRRRWWMACTAVLENLLFSAVLLGWGSLLIMLKSEGFYSYLCTEPENVTNGTVGGTAEPGHEEVSWMNGWLSCQAQDEMLNLAFTVGSFLLSAITLP
LGIVMDKYGPRKLRLLGSACFAVSCLLIAYGASKPNALSVLIFIALALNGFGGMCMTFTSLTLPNMFGDLRSTFIALMIGSYASSAVTFPGIKLIYDAGVSFIVV
LVVWAGCSGLVFLNCFFNWPLEPFPGPEDMDYSVKIKFSWLGFDHKITGKQFYKQVTTVGRRLSVGSSMRSAKEQVALQEGHKLCLSTVDLEVKCQPDAAVAPSF
MHSVFSPILLLSLVTMCVTQLRLIFYMGAMNNILKFLVSGDQKTVGLYTSIFGVLQLLCLLTAPVIGYIMDWRLKECEDASEEPEEKDANQGEKKKKKRDRQIQK
ITNAMRAFAFTNLLLVGFGVTCLIPNLPLQILSFILHTIVRGFIHSAVGGLYAAVYPSTQFGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGLLLLS
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top