AutismKB 2.0

Evidence Details for SLC9A3R1


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Basic Information Top
Gene Symbol:SLC9A3R1 ( EBP50,NHERF,NHERF1,NPHLOP2 )
Gene Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
Band: 17q25.1
Quick LinksEntrez ID:9368; OMIM: 604990; Uniprot ID:NHRF1_HUMAN; ENSEMBL ID: ENSG00000109062; HGNC ID: 11075
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC9A3R1|9368|nucleotide
ATGAGCGCGGACGCAGCGGCCGGGGCGCCCCTGCCCCGGCTCTGCTGCCTGGAGAAGGGTCCGAACGGCTACGGCTTCCACCTGCACGGGGAGAAGGGCAAGTTG
GGCCAGTACATCCGGCTGGTGGAGCCCGGCTCGCCGGCCGAGAAGGCGGGGCTGCTGGCGGGGGACCGGCTGGTGGAGGTGAACGGCGAAAACGTGGAGAAGGAG
ACCCACCAGCAGGTGGTGAGCCGCATCCGCGCCGCACTCAACGCCGTGCGCCTGCTGGTGGTCGACCCCGAGACGGACGAGCAGCTGCAGAAGCTCGGCGTCCAG
GTCCGAGAGGAGCTGCTGCGCGCCCAGGAAGCGCCGGGGCAGGCCGAGCCGCCGGCCGCCGCCGAGGTGCAGGGGGCTGGCAACGAAAATGAGCCTCGCGAGGCC
GACAAGAGCCACCCGGAGCAGCGCGAGCTTCGGCCTCGGCTCTGTACCATGAAGAAGGGCCCCAGTGGCTATGGCTTCAACCTGCACAGCGACAAGTCCAAGCCA
GGCCAGTTCATCCGGTCAGTGGACCCAGACTCCCCGGCTGAGGCTTCAGGGCTCCGGGCCCAGGATCGCATTGTGGAGGTGAACGGGGTCTGCATGGAGGGGAAG
CAGCATGGGGACGTGGTGTCCGCCATCAGGGCTGGCGGGGACGAGACCAAGCTGCTGGTGGTGGACAGGGAAACTGACGAGTTCTTCAAGAAATGCAGAGTGATC
CCATCTCAGGAGCACCTGAATGGTCCCCTGCCTGTGCCCTTCACCAATGGGGAGATACAGAAGGAGAACAGTCGTGAAGCCCTGGCAGAGGCAGCCTTGGAGAGC
CCCAGGCCAGCCCTGGTGAGATCCGCCTCCAGTGACACCAGCGAGGAGCTGAATTCCCAAGACAGCCCCCCAAAACAGGACTCCACAGCGCCCTCGTCTACCTCC
TCCTCCGACCCCATCCTAGACTTCAACATCTCCCTGGCCATGGCCAAAGAGAGGGCCCACCAGAAACGCAGCAGCAAACGGGCCCCGCAGATGGACTGGAGCAAG
AAAAACGAACTCTTCAGCAACCTCTGA
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>SLC9A3R1|9368|protein
MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIRAALNAVRLLVVDPETDEQLQKLGVQ
VREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQRELRPRLCTMKKGPSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGK
QHGDVVSAIRAGGDETKLLVVDRETDEFFKKCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTS
SSDPILDFNISLAMAKERAHQKRSSKRAPQMDWSKKNELFSNL

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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) 0 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top