AutismKB 2.0

Evidence Details for DMBX1


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Basic Information Top
Gene Symbol:DMBX1 ( MBX,OTX3,PAXB )
Gene Full Name: diencephalon/mesencephalon homeobox 1
Band: 1p33
Quick LinksEntrez ID:127343; OMIM: 607410; Uniprot ID:DMBX1_HUMAN; ENSEMBL ID: ENSG00000197587; HGNC ID: 19026
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DMBX1|127343|nucleotide
ATGCAGCACTACGGGGTGAACGGCTACTCACTGCACGCCATGAACTCACTCAGCGCCATGTACAACCTGCACCAGCAGGCAGCCCAGCAGGCCCAGCATGCCCCC
GACTACCGGCCTTCAGTGCATGCGCTTACATTGGCTGAGCGCCTGGCTGGCTGTACATTTCAAGACATCATCTTGGAGGCCCGTTATGGTTCCCAGCACCGCAAA
CAACGTCGCAGCCGCACAGCGTTCACGGCTCAGCAGCTCGAGGCCCTGGAAAAGACCTTCCAGAAGACTCACTACCCAGATGTGGTGATGCGTGAGAGGCTGGCC
ATGTGCACCAACCTGCCTGAGGCCCGGGTGCAGGTGTGGTTCAAGAACCGCCGGGCCAAGTTCCGGAAGAAGCAGCGTAGCCTGCAGAAGGAACAGCTCCAGAAG
CAGAAGGAGGCTGAGGGCTCCCATGGGGAAGGCAAGGCCGAGGCCCCCACTCCAGATACCCAGCTGGACACTGAGCAGCCCCCACGTCTGCCTGGCAGCGACCCC
CCTGCTGAGCTTCACCTGAGTCTGTCTGAGCAGTCAGCCAGTGAGTCAGCCCCCGAGGATCAGCCGGACCGTGAGGAGGACCCCAGGGCAGGGGCTGAGGACCCC
AAAGCTGAGAAGAGCCCTGGGGCTGACAGCAAGGGGCTGGGCTGCAAGAGGGGCAGCCCCAAGGCAGATTCCCCAGGCAGCCTGACCATCACTCCTGTGGCCCCA
GGGGGTGGCCTCCTGGGCCCCTCCCACTCCTATTCCTCGTCCCCGCTGAGCCTCTTCCGTCTGCAGGAGCAATTCCGCCAGCACATGGCGGCCACCAACAACCTG
GTGCACTACTCGTCCTTCGAAGTAGGGGGTCCGGCCCCTGCTGCTGCAGCGGCGGCTGCTGCTGTGCCCTACCTGGGCGTCAACATGGCCCCGCTGGGCTCACTG
CACTGCCAGTCCTACTACCAGTCCCTGTCAGCAGCCGCTGCTGCCCACCAGGGTGTGTGGGGGTCTCCTCTGCTGCCTGCACCCCCAGCAGGCCTGGCTCCTGCA
TCAGCTACCCTGAACAGTAAAACCACAAGCATCGAGAACCTGCGGCTCCGGGCCAAGCAGCACGCGGCCTCCCTGGGACTCGATACGCTGCCCAACTGA
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>DMBX1|127343|protein
MQHYGVNGYSLHAMNSLSAMYNLHQQAAQQAQHAPDYRPSVHALTLAERLAGCTFQDIILEARYGSQHRKQRRSRTAFTAQQLEALEKTFQKTHYPDVVMRERLA
MCTNLPEARVQVWFKNRRAKFRKKQRSLQKEQLQKQKEAEGSHGEGKAEAPTPDTQLDTEQPPRLPGSDPPAELHLSLSEQSASESAPEDQPDREEDPRAGAEDP
KAEKSPGADSKGLGCKRGSPKADSPGSLTITPVAPGGGLLGPSHSYSSSPLSLFRLQEQFRQHMAATNNLVHYSSFEVGGPAPAAAAAAAAVPYLGVNMAPLGSL
HCQSYYQSLSAAAAAHQGVWGSPLLPAPPAGLAPASATLNSKTTSIENLRLRAKQHAASLGLDTLPN

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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 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top