AutismKB 2.0

Evidence Details for ATP2B4


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Basic Information Top
Gene Symbol:ATP2B4 ( ATP2B2,DKFZp686G08106,DKFZp686M088,MXRA1,PMCA4,PMCA4b,PMCA4x )
Gene Full Name: ATPase, Ca++ transporting, plasma membrane 4
Band: 1q32.1
Quick LinksEntrez ID:493; OMIM: 108732; Uniprot ID:AT2B4_HUMAN; ENSEMBL ID: ENSG00000058668; HGNC ID: 817
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP2B4|493|nucleotide
ATGACGAACCCATCAGACCGTGTCTTGCCTGCCAACTCGATGGCCGAGAGCCGTGAAGGGGACTTTGGCTGCACAGTAATGGAACTGAGGAAGCTCATGGAGCTG
CGTTCAAGGGATGCACTGACCCAGATTAATGTCCACTATGGAGGTGTACAGAATCTCTGCAGTAGACTGAAAACCTCCCCTGTGGAAGGTCTGTCTGGGAACCCT
GCAGATCTGGAGAAACGTAGGCAGGTGTTTGGACACAACGTGATCCCCCCCAAAAAGCCCAAGACTTTCTTAGAATTAGTGTGGGAAGCTCTTCAAGATGTCACG
CTCATCATCCTGGAGATTGCAGCCATCATCTCCCTGGTCCTGTCCTTTTATCGCCCTGCTGGTGAAGAAAATGAACTGTGTGGTCAAGTCGCAACTACCCCAGAA
GATGAAAATGAGGCACAAGCTGGCTGGATTGAGGGGGCAGCCATCCTTTTCTCAGTGATCATCGTGGTGTTAGTGACTGCCTTTAATGATTGGAGCAAAGAGAAG
CAATTCCGGGGGCTGCAGTGCCGCATTGAACAGGAGCAAAAGTTCTCCATCATCCGAAACGGTCAACTCATCCAGCTCCCTGTGGCTGAGATTGTGGTTGGTGAT
ATTGCCCAAGTCAAATACGGTGATCTGCTGCCTGCAGATGGAATCCTGATCCAAGGGAATGATCTGAAGATTGATGAGAGCTCTCTGACAGGGGAATCTGACCAT
GTCAAGAAGTCCCTGGACAAAGACCCCATGTTGCTCTCAGGGACCCATGTCATGGAAGGTTCTGGCCGGATGGTGGTGACAGCTGTTGGTGTCAACTCTCAGACT
GGAATCATCCTTACTCTCTTGGGGGTCAATGAGGATGACGAAGGGGAGAAAAAGAAGAAAGGTAAAAAACAAGGAGTCCCTGAAAATCGCAACAAAGCAAAGACC
CAAGACGGAGTGGCCCTGGAAATCCAGCCACTCAACAGCCAGGAGGGAATCGACAATGAGGAAAAGGACAAGAAGGCAGTCAAGGTGCCTAAAAAGGAGAAGTCA
GTGCTGCAGGGCAAGCTGACTCGCCTGGCTGTTCAGATTGGGAAAGCCGGTCTGCTCATGTCTGCTCTCACGGTTTTCATCCTGATTCTATACTTTGTGATTGAC
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>ATP2B4|493|protein
MTNPSDRVLPANSMAESREGDFGCTVMELRKLMELRSRDALTQINVHYGGVQNLCSRLKTSPVEGLSGNPADLEKRRQVFGHNVIPPKKPKTFLELVWEALQDVT
LIILEIAAIISLVLSFYRPAGEENELCGQVATTPEDENEAQAGWIEGAAILFSVIIVVLVTAFNDWSKEKQFRGLQCRIEQEQKFSIIRNGQLIQLPVAEIVVGD
IAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPMLLSGTHVMEGSGRMVVTAVGVNSQTGIILTLLGVNEDDEGEKKKKGKKQGVPENRNKAKT
QDGVALEIQPLNSQEGIDNEEKDKKAVKVPKKEKSVLQGKLTRLAVQIGKAGLLMSALTVFILILYFVIDNFVINRRPWLPECTPIYIQYFVKFFIIGITVLVVA
VPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYIGGIHYRQIPSPDVFLPKVLDLIVNGISINSAYTSKILPPEKEG
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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 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top