AutismKB 2.0

Evidence Details for SLC22A7


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Basic Information Top
Gene Symbol:SLC22A7 ( MGC24091,MGC45202,NLT,OAT2 )
Gene Full Name: solute carrier family 22 (organic anion transporter), member 7
Band: 6p21.1
Quick LinksEntrez ID:10864; OMIM: 604995; Uniprot ID:S22A7_HUMAN; ENSEMBL ID: ENSG00000137204; HGNC ID: 10971
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC22A7|10864|nucleotide
ATGGGCTTTGAGGAGCTGCTGGAGCAGGTGGGCGGCTTTGGGCCCTTCCAACTGCGGAATGTGGCACTGCTGGCCCTGCCCCGAGTGCTGCTACCACTGCACTTC
CTCCTGCCCATCTTCCTGGCTGCCGTGCCTGCCCACCGATGTGCCCTGCCGGGTGCCCCTGCCAACTTCAGCCATCAGGATGTGTGGCTGGAGGCCCATCTTCCC
CGGGAGCCTGATGGCACGCTCAGCTCCTGCCTCCGCTTTGCCTATCCCCAGGCTCTCCCCAACACCACGTTGGGGGAAGAAAGGCAGAGCCGTGGGGAGCTGGAG
GATGAACCTGCCACAGTGCCCTGCTCTCAGGGCTGGGAGTACGACCACTCAGAATTCTCCTCTACCATTGCAACTGAGTGGGATCTGGTGTGTGAGCAGAAAGGT
CTGAACAGAGCTGCGTCCACTTTCTTCTTCGCCGGTGTGCTGGTGGGGGCTGTGGCCTTTGGATATCTGTCCGACAGGTTTGGGCGGCGGCGTCTGCTGCTGGTA
GCCTACGTGAGTACCCTGGTGCTGGGCCTGGCATCTGCAGCCTCCGTCAGCTATGTAATGTTTGCCATCACCCGCACCCTTACTGGCTCAGCCCTGGCTGGTTTT
ACCATCATCGTGATGCCACTGGAGCTGGAGTGGCTGGATGTGGAGCACCGCACCGTGGCTGGAGTCCTGAGCAGCACCTTCTGGACAGGGGGCGTGATGCTGCTG
GCACTGGTTGGGTACCTGATACGGGACTGGCGATGGCTTCTGCTAGCTGTCACCCTGCCTTGTGCCCCAGGCATCCTCAGCCTCTGGTGGGTGCCTGAGTCTGCA
CGCTGGCTTCTGACCCAAGGCCATGTGAAAGAGGCCCACAGGTACTTGCTCCACTGTGCCAGGCTCAATGGGCGGCCAGTGTGTGAGGACAGCTTCAGCCAGGAG
GCTGTGAGCAAAGTGGCCGCCGGGGAACGGGTGGTCCGAAGACCTTCATACCTAGACCTGTTCCGCACACCACGGCTCCGACACATCTCACTGTGCTGCGTGGTG
GTGTGGTTCGGAGTGAACTTCTCCTATTACGGCCTGAGTCTGGATGTGTCGGGGCTGGGGCTGAACGTGTACCAGACACAGCTGTTGTTCGGGGCTGTGGAACTG
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>SLC22A7|10864|protein
MGFEELLEQVGGFGPFQLRNVALLALPRVLLPLHFLLPIFLAAVPAHRCALPGAPANFSHQDVWLEAHLPREPDGTLSSCLRFAYPQALPNTTLGEERQSRGELE
DEPATVPCSQGWEYDHSEFSSTIATEWDLVCEQKGLNRAASTFFFAGVLVGAVAFGYLSDRFGRRRLLLVAYVSTLVLGLASAASVSYVMFAITRTLTGSALAGF
TIIVMPLELEWLDVEHRTVAGVLSSTFWTGGVMLLALVGYLIRDWRWLLLAVTLPCAPGILSLWWVPESARWLLTQGHVKEAHRYLLHCARLNGRPVCEDSFSQE
AVSKVAAGERVVRRPSYLDLFRTPRLRHISLCCVVVWFGVNFSYYGLSLDVSGLGLNVYQTQLLFGAVELPSKLLVYLSVRYAGRRLTQAGTLLGTALAFGTRLL
VSSDMKSWSTVLAVMGKAFSEAAFTTAYLFTSELYPTVLRQTGMGLTALVGRLGGSLAPLAALLDGVWLSLPKLTYGGIALLAAGTALLLPETRQAQLPETIQDV
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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 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 16 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
MIXED/OTHERS
Anney RJL, 2017_3 replication 1369
(-)
ASD -
-
- 137308
(-)
-
-
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top