AutismKB 2.0

Evidence Details for APOB48R


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Basic Information Top
Gene Symbol:APOB48R ( - )
Gene Full Name: -
Band: 16p11
Quick LinksEntrez ID:55911; OMIM: 605220; Uniprot ID:AB48R_HUMAN; ENSEMBL ID: ENSG00000184730; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>APOB48R|55911|nucleotide
ATGGACTTCCTCCGGCTATACCTCCCTGGGCTGCACCAGGCCTTGAGGGGGGCACTGGATTCCCTCGGCACCTTTGTCTCCTACCTCCTGGGAGATGCAGTCCCC
ACTGTAGAGCGGGAGGCGCAGGCGGCTGAGGAACTGGGGGTGGTGGCGGTGGGAAAGACAGGGAAGATTGTAGAGGAGGAAGCCCAGGAGGACCTGGAGGGCCTT
AGAGGCAGCCAAAACGAGGGGGCTGGAAGGCTGAGAGGGCCTGGAGATGACAGAAGACATGAAGTGGGGAGCTCAGCTGTAGAACAGACCTGGGGCTGGGGAGAT
GGCAGCTCCCATGGGTCCCAAGCAGAGAGGCAGGACAGTGGGGCTGGGGAGACAGCCAAGGCTGCCAGGTGCCAGGAGCCAAGCGCCCACTTGGAGGCCAGAAAG
AAATCCAAGGCAGGGTCTGGGGCTTGCCAAGACAGGAGCGGCCAAGCCCAGGAGAGGCAGGAGTCCCATGAGCAGGAAGTGAACAGAGAAGAGAGGCTGAGAAGC
TGGGAACAGGAGGAGGAGGAGGAAGAGGTCAGGGCAAGAGAGCCAGGGATGGCCAGAGGGGCGGAGTCAGAGTGGACCTGGCATGGGGAGACGGAGGGGAAGGCT
GGTGCTGTTGGGCCAAAGGCGGCAGGGGACAACCGGGAGATGGAGCAGGGGGTCAGGGAGGCAGATGCAGGGGAAACTGAGGAGCCTGGGGCCGAAGGGGCTGGG
AAAGGAGAAGAGGTGGTAGTGGTGGAGAAGGCCTGTGAAAGCACTAGGGCATGGGGGACGTGGGGCCCAGGGGCAGAGCCTGAGGACTGGGGAATCTTAGGCAGA
GAGGAGGCCAGGACAACCCCAGGTAGGGAAGAGGCCAGGGCAATTTTAGATGGGGAGGAAGCCAGGACAATCTCAGGCGGGGAGGAGGCTGAGACAGCCTCAGGC
GGGGAGGAGGCTGAAACAGCCTCAGGCGGGGAGGAGGCCGGGACAGCCTCGGGAGGGGAGGAGGCCGGGATAGCCTCAGGCGGGGAGGCTGGGACAGCCTCAGGA
GGGGAGGAGGCCGGGACAGCCTCAGGAGGGGACGAGGCCTGGACAACCTCAGGCAAAGAGGAGGCTGACCTGCTGGGAGTCAGACAGACAGAATATGGAGCAGTC
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>APOB48R|55911|protein
MDFLRLYLPGLHQALRGALDSLGTFVSYLLGDAVPTVEREAQAAEELGVVAVGKTGKIVEEEAQEDLEGLRGSQNEGAGRLRGPGDDRRHEVGSSAVEQTWGWGD
GSSHGSQAERQDSGAGETAKAARCQEPSAHLEARKKSKAGSGACQDRSGQAQERQESHEQEVNREERLRSWEQEEEEEEVRAREPGMARGAESEWTWHGETEGKA
GAVGPKAAGDNREMEQGVREADAGETEEPGAEGAGKGEEVVVVEKACESTRAWGTWGPGAEPEDWGILGREEARTTPGREEARAILDGEEARTISGGEEAETASG
GEEAETASGGEEAGTASGGEEAGIASGGEAGTASGGEEAGTASGGDEAWTTSGKEEADLLGVRQTEYGAVPGERLLEATGKVWVLEEEGDEEREAEVSPFPKQPQ
VLGTERTEEAAESQTAGREAVGGQEAGESFEGQVDLRGKEAEMRQDLGIRADRARMEELVQAEEAQEERGSSRDPVAELPSDGEAEGTADLEATPEARPEEELTG
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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) 2 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top