AutismKB 2.0

Evidence Details for SLC22A18


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Basic Information Top
Gene Symbol:SLC22A18 ( BWR1A,BWSCR1A,DKFZp667A184,HET,IMPT1,ITM,ORCTL2,SLC22A1L,TSSC5,p45-BWR1A )
Gene Full Name: solute carrier family 22, member 18
Band: 11p15.4
Quick LinksEntrez ID:5002; OMIM: 602631; Uniprot ID:S22AI_HUMAN; ENSEMBL ID: ENSG00000110628; HGNC ID: 10964
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC22A18|5002|nucleotide
ATGCAGGGAGCTCGGGCTCCCAGGGACCAGGGCCGGTCCCCCGGCAGGATGAGCGCTCTAGGCCGGTCCTCGGTCATCTTGCTTACCTACGTGCTGGCCGCCACA
GAACTTACCTGCCTCTTCATGCAGTTCTCCATCGTGCCATACCTGTCTCGGAAACTGGGCCTGGATTCCATTGCCTTCGGCTACCTGCAAACCACCTTCGGGGTG
CTGCAGCTGCTGGGCGGGCCGGTATTTGGCAGGTTCGCAGACCAGCGCGGGGCGCGGGCGGCGCTCACGCTCTCCTTCCTGGCTGCCTTGGCGCTCTACCTGCTC
CTGGCGGCCGCCTCCAGCCCGGCCCTGCCCGGGGTCTACCTGCTCTTCGCCTCGCGCCTGCCCGGAGCGCTCATGCACACGCTGCCAGCCGCCCAGATGGTCATC
ACGGACCTGTCGGCACCCGAGGAGCGGCCCGCGGCCCTGGGCCGGCTGGGCCTCTGCTTCGGCGTCGGAGTCATCCTCGGCTCCCTGCTGGGCGGGACCCTGGTC
TCCGCGTACGGGATTCAGTGCCCGGCCATCCTGGCTGCCCTGGCCACCCTCCTGGGAGCTGTCCTCAGCTTCACCTGCATCCCCGCCAGCACCAAAGGGGCCAAA
ACTGACGCCCAGGCTCCACTGCCAGGCGGCCCCCGGGCCAGTGTGTTCGACCTGAAGGCCATCGCCTCCCTGCTGCGGCTGCCAGACGTCCCGAGGATCTTCCTG
GTGAAGGTGGCCTCCAACTGCCCCACAGGGCTCTTCATGGTCATGTTCTCCATCATCTCCATGGACTTCTTCCAGCTGGAGGCCGCCCAAGCTGGCTACCTCATG
TCCTTCTTCGGGCTCCTCCAGATGGTGACCCAGGGCCTGGTCATCGGGCAGCTGAGCAGCCACTTCTCGGAGGAGGTGCTGCTCCGGGCCAGCGTGCTGGTCTTC
ATCGTGGTGGGCCTGGCCATGGCCTGGATGTCCAGCGTCTTCCACTTCTGCCTCCTGGTGCCCGGCCTGGTGTTCAGCCTCTGCACCCTCAACGTGGTCACCGAC
AGCATGCTGATCAAGGCTGTCTCCACCTCGGACACAGGGACCATGCTGGGCCTCTGCGCCTCTGTACAACCACTGCTCCGAACTCTGGGACCCACGGTCGGCGGC
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>SLC22A18|5002|protein
MQGARAPRDQGRSPGRMSALGRSSVILLTYVLAATELTCLFMQFSIVPYLSRKLGLDSIAFGYLQTTFGVLQLLGGPVFGRFADQRGARAALTLSFLAALALYLL
LAAASSPALPGVYLLFASRLPGALMHTLPAAQMVITDLSAPEERPAALGRLGLCFGVGVILGSLLGGTLVSAYGIQCPAILAALATLLGAVLSFTCIPASTKGAK
TDAQAPLPGGPRASVFDLKAIASLLRLPDVPRIFLVKVASNCPTGLFMVMFSIISMDFFQLEAAQAGYLMSFFGLLQMVTQGLVIGQLSSHFSEEVLLRASVLVF
IVVGLAMAWMSSVFHFCLLVPGLVFSLCTLNVVTDSMLIKAVSTSDTGTMLGLCASVQPLLRTLGPTVGGLLYRSFGVPVFGHVQVAINTLVLLVLWRKPMPQRK
DKVR
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (4)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top