Evidence Details for SLCO3A1
Basic Information Top
| Gene Symbol: | SLCO3A1 ( FLJ40478,OATP-D,OATP3A1,OATPD,SLC21A11 ) |
|---|---|
| Gene Full Name: | solute carrier organic anion transporter family, member 3A1 |
| Band: | 15q26.1 |
| Quick Links | Entrez ID:28232; OMIM: 612435; Uniprot ID:SO3A1_HUMAN; ENSEMBL ID: ENSG00000176463; HGNC ID: 10952 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SLCO3A1|28232|nucleotide
ATGCAGGGGAAGAAGCCGGGCGGTTCGTCGGGCGGCGGCCGGAGCGGCGAGCTGCAGGGGGACGAGGCGCAGAGGAACAAGAAAAAGAAAAAGAAGGTGTCCTGC
TTTTCCAACATCAAGATCTTCCTGGTGTCCGAGTGCGCCCTGATGCTGGCGCAGGGCACGGTGGGCGCCTACCTGGTGAGCGTCCTGACCACCCTGGAGCGTAGG
TTCAACCTGCAGAGCGCTGACGTGGGTGTGATCGCTAGCAGCTTCGAGATCGGGAACCTGGCGCTCATCCTCTTCGTGAGCTACTTCGGGGCACGCGGGCACCGG
CCGCGCCTGATCGGCTGCGGCGGCATCGTCATGGCGCTGGGCGCGCTGCTGTCGGCGCTGCCCGAGTTCCTGACCCACCAGTACAAGTACGAGGCGGGCGAGATC
CGCTGGGGCGCCGAGGGCCGCGACGTCTGCGCAGCCAACGGCTCGGGCGGCGACGAGGGGCCCGACCCCGACCTCATCTGCCGCAACCGGACGGCTACCAACATG
ATGTACTTGCTGCTCATTGGGGCCCAGGTGCTCCTGGGCATCGGTGCTACCCCTGTGCAGCCCCTGGGCGTCTCCTACATCGACGACCACGTGCGGAGGAAGGAC
TCCTCGCTCTATATAGGAATCCTGTTCACGATGCTGGTATTTGGACCAGCCTGCGGGTTTATCCTGGGCTCTTTCTGTACCAAAATCTACGTGGATGCGGTCTTC
ATTGACACAAGTAACCTGGACATCACTCCGGACGACCCCCGCTGGATCGGAGCCTGGTGGGGTGGCTTTCTGCTCTGCGGTGCCTTACTCTTCTTCTCTTCCCTC
TTGATGTTTGGGTTTCCACAGTCCCTGCCCCCGCACTCAGAGCCCGCCATGGAAAGCGAGCAGGCCATGCTCTCCGAAAGAGAATACGAGAGACCCAAGCCCAGC
AACGGGGTCCTGAGGCACCCCCTGGAGCCAGACAGCAGTGCCTCCTGTTTCCAGCAGCTGAGAGTGATCCCGAAGGTCACCAAGCACCTGCTCTCAAACCCTGTG
TTCACCTGCATCATCCTGGCCGCCTGCATGGAGATTGCAGTGGTGGCTGGCTTCGCTGCCTTTTTGGGGAAGTACCTGGAGCAGCAGTTTAACCTCACCACCTCT
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ATGCAGGGGAAGAAGCCGGGCGGTTCGTCGGGCGGCGGCCGGAGCGGCGAGCTGCAGGGGGACGAGGCGCAGAGGAACAAGAAAAAGAAAAAGAAGGTGTCCTGC
TTTTCCAACATCAAGATCTTCCTGGTGTCCGAGTGCGCCCTGATGCTGGCGCAGGGCACGGTGGGCGCCTACCTGGTGAGCGTCCTGACCACCCTGGAGCGTAGG
TTCAACCTGCAGAGCGCTGACGTGGGTGTGATCGCTAGCAGCTTCGAGATCGGGAACCTGGCGCTCATCCTCTTCGTGAGCTACTTCGGGGCACGCGGGCACCGG
CCGCGCCTGATCGGCTGCGGCGGCATCGTCATGGCGCTGGGCGCGCTGCTGTCGGCGCTGCCCGAGTTCCTGACCCACCAGTACAAGTACGAGGCGGGCGAGATC
CGCTGGGGCGCCGAGGGCCGCGACGTCTGCGCAGCCAACGGCTCGGGCGGCGACGAGGGGCCCGACCCCGACCTCATCTGCCGCAACCGGACGGCTACCAACATG
ATGTACTTGCTGCTCATTGGGGCCCAGGTGCTCCTGGGCATCGGTGCTACCCCTGTGCAGCCCCTGGGCGTCTCCTACATCGACGACCACGTGCGGAGGAAGGAC
TCCTCGCTCTATATAGGAATCCTGTTCACGATGCTGGTATTTGGACCAGCCTGCGGGTTTATCCTGGGCTCTTTCTGTACCAAAATCTACGTGGATGCGGTCTTC
ATTGACACAAGTAACCTGGACATCACTCCGGACGACCCCCGCTGGATCGGAGCCTGGTGGGGTGGCTTTCTGCTCTGCGGTGCCTTACTCTTCTTCTCTTCCCTC
TTGATGTTTGGGTTTCCACAGTCCCTGCCCCCGCACTCAGAGCCCGCCATGGAAAGCGAGCAGGCCATGCTCTCCGAAAGAGAATACGAGAGACCCAAGCCCAGC
AACGGGGTCCTGAGGCACCCCCTGGAGCCAGACAGCAGTGCCTCCTGTTTCCAGCAGCTGAGAGTGATCCCGAAGGTCACCAAGCACCTGCTCTCAAACCCTGTG
TTCACCTGCATCATCCTGGCCGCCTGCATGGAGATTGCAGTGGTGGCTGGCTTCGCTGCCTTTTTGGGGAAGTACCTGGAGCAGCAGTTTAACCTCACCACCTCT
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>SLCO3A1|28232|protein
MQGKKPGGSSGGGRSGELQGDEAQRNKKKKKKVSCFSNIKIFLVSECALMLAQGTVGAYLVSVLTTLERRFNLQSADVGVIASSFEIGNLALILFVSYFGARGHR
PRLIGCGGIVMALGALLSALPEFLTHQYKYEAGEIRWGAEGRDVCAANGSGGDEGPDPDLICRNRTATNMMYLLLIGAQVLLGIGATPVQPLGVSYIDDHVRRKD
SSLYIGILFTMLVFGPACGFILGSFCTKIYVDAVFIDTSNLDITPDDPRWIGAWWGGFLLCGALLFFSSLLMFGFPQSLPPHSEPAMESEQAMLSEREYERPKPS
NGVLRHPLEPDSSASCFQQLRVIPKVTKHLLSNPVFTCIILAACMEIAVVAGFAAFLGKYLEQQFNLTTSSANQLLGMTAIPCACLGIFLGGLLVKKLSLSALGA
IRMAMLVNLVSTACYVSFLFLGCDTGPVAGVTVPYGNSTAPGSALDPYSPCNNNCECQTDSFTPVCGADGITYLSACFAGCNSTNLTGCACLTTVPAENATVVPG
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MQGKKPGGSSGGGRSGELQGDEAQRNKKKKKKVSCFSNIKIFLVSECALMLAQGTVGAYLVSVLTTLERRFNLQSADVGVIASSFEIGNLALILFVSYFGARGHR
PRLIGCGGIVMALGALLSALPEFLTHQYKYEAGEIRWGAEGRDVCAANGSGGDEGPDPDLICRNRTATNMMYLLLIGAQVLLGIGATPVQPLGVSYIDDHVRRKD
SSLYIGILFTMLVFGPACGFILGSFCTKIYVDAVFIDTSNLDITPDDPRWIGAWWGGFLLCGALLFFSSLLMFGFPQSLPPHSEPAMESEQAMLSEREYERPKPS
NGVLRHPLEPDSSASCFQQLRVIPKVTKHLLSNPVFTCIILAACMEIAVVAGFAAFLGKYLEQQFNLTTSSANQLLGMTAIPCACLGIFLGGLLVKKLSLSALGA
IRMAMLVNLVSTACYVSFLFLGCDTGPVAGVTVPYGNSTAPGSALDPYSPCNNNCECQTDSFTPVCGADGITYLSACFAGCNSTNLTGCACLTTVPAENATVVPG
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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 (1) | 1 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 4 (5) |
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) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ![]() | ![]() | 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
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bonati, 2005 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray | ![]() | ![]() | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Risch, 1999 | USA | microsatellite-based genomic screen | ![]() | ![]() | PDD | 90 | - | 90 | - | - | - | - |
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
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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