Evidence Details for SLC22A18
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 Links | Entrez 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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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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MQGARAPRDQGRSPGRMSALGRSSVILLTYVLAATELTCLFMQFSIVPYLSRKLGLDSIAFGYLQTTFGVLQLLGGPVFGRFADQRGARAALTLSFLAALALYLL
LAAASSPALPGVYLLFASRLPGALMHTLPAAQMVITDLSAPEERPAALGRLGLCFGVGVILGSLLGGTLVSAYGIQCPAILAALATLLGAVLSFTCIPASTKGAK
TDAQAPLPGGPRASVFDLKAIASLLRLPDVPRIFLVKVASNCPTGLFMVMFSIISMDFFQLEAAQAGYLMSFFGLLQMVTQGLVIGQLSSHFSEEVLLRASVLVF
IVVGLAMAWMSSVFHFCLLVPGLVFSLCTLNVVTDSMLIKAVSTSDTGTMLGLCASVQPLLRTLGPTVGGLLYRSFGVPVFGHVQVAINTLVLLVLWRKPMPQRK
DKVR
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Evidence summary TopClick 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 (1) | 0 (0) | 0 (0) | 0 (0) | 3 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bucan, 2009 | USA | SNP microarray |  |  | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Garbett, 2008_1 | Unknown | superior temporal gyrus (STG) | 6 (33.33%) | - | - | - | autism | 6 (33.33%) |
1.09995 | Up | 0.0082586 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.