AutismKB 2.0

Evidence Details for ATP2B3


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Basic Information Top
Gene Symbol:ATP2B3 ( PMCA3,PMCA3a )
Gene Full Name: ATPase, Ca++ transporting, plasma membrane 3
Band: Xq28
Quick LinksEntrez ID:492; OMIM: 300014; Uniprot ID:AT2B3_HUMAN; ENSEMBL ID: ENSG00000067842; HGNC ID: 816
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP2B3|492|nucleotide
ATGGGCGACATGGCCAATAGTTCCATCGAGTTCCACCCCAAGCCCCAGCAGCAGCGGGATGTCCCCCAGGCTGGAGGCTTTGGGTGCACGCTGGCGGAGCTGCGC
ACCCTCATGGAGCTGCGAGGGGCCGAGGCGCTGCAGAAGATCGAGGAGGCCTACGGGGATGTCAGCGGGCTCTGCCGGAGGCTGAAGACCTCACCCACAGAGGGC
CTGGCGGACAACACCAATGACCTGGAGAAGCGCAGGCAGATCTACGGGCAGAACTTCATCCCCCCAAAGCAACCCAAGACCTTCCTGCAGCTGGTGTGGGAGGCC
CTGCAGGACGTGACCCTCATCATCCTGGAGGTGGCTGCCATCGTCTCTCTGGGCCTCTCGTTCTATGCGCCGCCAGGAGAGGAGAGTGAAGCCTGTGGGAATGTG
TCGGGAGGCGCAGAAGATGAGGGCGAGGCCGAAGCTGGCTGGATCGAGGGGGCTGCCATCCTGCTGTCCGTCATCTGTGTGGTGCTGGTCACGGCCTTCAATGAC
TGGAGCAAGGAGAAGCAGTTCCGAGGCCTGCAGAGCCGAATTGAGCAGGAGCAGAAGTTCACGGTCATCCGGAACGGGCAGCTCCTCCAGGTCCCCGTGGCTGCG
CTGGTGGTGGGGGACATTGCCCAGGTCAAGTACGGCGACCTGCTGCCAGCCGACGGCGTGCTCATCCAGGCCAATGACCTCAAGATCGACGAGAGCTCCCTGACG
GGCGAGTCTGACCACGTGCGCAAGTCAGCTGACAAAGATCCCATGCTGCTCTCAGGCACTCATGTCATGGAAGGTTCTGGAAGAATGGTGGTGACCGCCGTTGGC
GTGAATTCCCAGACAGGCATCATCTTCACGCTGCTTGGAGCTGGCGGAGAGGAGGAAGAGAAGAAAGATAAGAAAGGCAAGCAGCAGGATGGGGCCATGGAGAGT
AGCCAGACCAAAGCTAAGAAGCAGGATGGTGCAGTGGCCATGGAGATGCAGCCCCTGAAGAGCGCGGAGGGTGGGGAGATGGAGGAGCGGGAGAAGAAGAAAGCC
AACGCACCCAAAAAGGAGAAGTCTGTCCTTCAGGGGAAGCTCACAAAGCTAGCCGTGCAGATCGGGAAAGCAGGGCTGGTGATGTCTGCCATCACCGTCATCATC
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>ATP2B3|492|protein
MGDMANSSIEFHPKPQQQRDVPQAGGFGCTLAELRTLMELRGAEALQKIEEAYGDVSGLCRRLKTSPTEGLADNTNDLEKRRQIYGQNFIPPKQPKTFLQLVWEA
LQDVTLIILEVAAIVSLGLSFYAPPGEESEACGNVSGGAEDEGEAEAGWIEGAAILLSVICVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVIRNGQLLQVPVAA
LVVGDIAQVKYGDLLPADGVLIQANDLKIDESSLTGESDHVRKSADKDPMLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDKKGKQQDGAMES
SQTKAKKQDGAVAMEMQPLKSAEGGEMEEREKKKANAPKKEKSVLQGKLTKLAVQIGKAGLVMSAITVIILVLYFVIETFVVEGRTWLAECTPVYVQYFVKFFII
GVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTTNRMTVVQSYLGDTHYKEIPAPSALTPKILDLLVHAISINSAYTTK
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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 (0) 0 (0) 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top