AutismKB 2.0

Evidence Details for SLC4A1


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Basic Information Top
Gene Symbol:SLC4A1 ( AE1,BND3,CD233,DI,EMPB3,EPB3,FR,MGC116750,MGC116753,MGC126619,MGC126623,RTA1A,SW,WD,WD1,WR )
Gene Full Name: solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
Band: 17q21.31
Quick LinksEntrez ID:6521; OMIM: 109270; Uniprot ID:B3AT_HUMAN; ENSEMBL ID: ENSG00000004939; HGNC ID: 11027
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC4A1|6521|nucleotide
ATGGAGGAGCTGCAGGATGATTATGAAGACATGATGGAGGAGAATCTGGAGCAGGAGGAATATGAAGACCCAGACATCCCCGAGTCCCAGATGGAGGAGCCGGCA
GCTCACGACACCGAGGCAACAGCCACAGACTACCACACCACATCACACCCGGGTACCCACAAGGTCTATGTGGAGCTGCAGGAGCTGGTGATGGACGAAAAGAAC
CAGGAGCTGAGATGGATGGAGGCGGCGCGCTGGGTGCAACTGGAGGAGAACCTGGGGGAGAATGGGGCCTGGGGCCGCCCGCACCTCTCTCACCTCACCTTCTGG
AGCCTCCTAGAGCTGCGTAGAGTCTTCACCAAGGGTACTGTCCTCCTAGACCTGCAAGAGACCTCCCTGGCTGGAGTGGCCAACCAACTGCTAGACAGGTTTATC
TTTGAAGACCAGATCCGGCCTCAGGACCGAGAGGAGCTGCTCCGGGCCCTGCTGCTTAAACACAGCCACGCTGGAGAGCTGGAGGCCCTGGGGGGTGTGAAGCCT
GCAGTCCTGACACGCTCTGGGGATCCTTCACAGCCTCTGCTCCCCCAACACTCCTCACTGGAGACACAGCTCTTCTGTGAGCAGGGAGATGGGGGCACAGAAGGG
CACTCACCATCTGGAATTCTGGAAAAGATTCCCCCGGATTCAGAGGCCACGTTGGTGCTAGTGGGCCGCGCCGACTTCCTGGAGCAGCCGGTGCTGGGCTTCGTG
AGGCTGCAGGAGGCAGCGGAGCTGGAGGCGGTGGAGCTGCCGGTGCCTATACGCTTCCTCTTTGTGTTGCTGGGACCTGAGGCCCCCCACATCGATTACACCCAG
CTTGGCCGGGCTGCTGCCACCCTCATGTCAGAGAGGGTGTTCCGCATAGATGCCTACATGGCTCAGAGCCGAGGGGAGCTGCTGCACTCCCTAGAGGGCTTCCTG
GACTGCAGCCTAGTGCTGCCTCCCACCGATGCCCCCTCCGAGCAGGCACTGCTCAGTCTGGTGCCTGTGCAGAGGGAGCTACTTCGAAGGCGCTATCAGTCCAGC
CCTGCCAAGCCAGACTCCAGCTTCTACAAGGGCCTAGACTTAAATGGGGGCCCAGATGACCCTCTGCAGCAGACAGGCCAGCTCTTCGGGGGCCTGGTGCGTGAT
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>SLC4A1|6521|protein
MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFW
SLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEG
HSPSGILEKIPPDSEATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFL
DCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPA
ITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFS
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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) 0 (0) 1 (2) 0 (0) 0 (1) 0 (0) 12 (5)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top