AutismKB 2.0

Evidence Details for DNAH12


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Basic Information Top
Gene Symbol:DNAH12 ( DHC3,DLP12,DNAH12L,DNAH7L,DNAHC12,DNAHC3,DNHD2,FLJ40427,FLJ44290,HDHC3,HL-19,HL19 )
Gene Full Name: dynein, axonemal, heavy chain 12
Band: 3p14.3
Quick LinksEntrez ID:201625; OMIM: 603340; Uniprot ID:DYH12_HUMAN; ENSEMBL ID: ENSG00000174844; HGNC ID: 2943
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DNAH12|201625|nucleotide
ATGTCAGATGCAAACAAAGCTGCCATTGCAGCAGAAAAGGAAGCTCTGAACTTGAAGTTACCCCCCATTGTCCATCTCCCAGAAAACATAGGCGTTGATACACCA
ACACAAAGTAAGCTGCTAAAATACAGAAGATCCAAGGAGCAGCAGCAGAAAATTAATCAGTTAGTAATTGATGGAGCCAAAAGAAATTTAGACAGAACACTGGGT
AAAAGAACACCTCTATTACCACCACCTGATTATCCTCAAACTATGACCAGTGAAATGAAAAAAAAAGGATTCAACTATATTTATATGAAGCAATGTGTAGAAAGT
AGTCCTTTAGTACCTATTCAGCAGGAATGGCTGGATCACATGTTAAGGCTGATACCTGAGTCTTTAAAGGAAGGGAAAGAAAGAGAAGAACTTCTTGAAAGTCTC
ATAAATGAGGTGTCAAGTGACTTTGAAAACAGCATGAAGAGATATTTGGTGCAGAGCGTTCTTGTGAAACCACCAGTTAAATCGCTTGAAGATGAAGGAGGTCCT
TTACCTGAATCTCCTGTAGGCCTAGATTATTCTAATCCTTGGCATTCTAGCTATGTGCAGGCAAGAAATCAAATATTCTCTAATTTGCACATTATTCATCCAACT
ATGAAAATGTTACTGGACCTTGGTTATACAACATTTGCTGATACAGTTTTGTTGGACTTCACAGGAATTAGAGCTAAAGGTCCAATTGACTGTGAATCACTGAAA
ACTGATCTATCAATACAAACTAGAAACGCAGAAGAGAAGATAATGAATACATGGTATCCAAAGGTTATAAATCTCTTTACCAAGAAGGAGGCACTAGAAGGTGTT
AAACCTGAAAAATTGGATGCATTTTATAGCTGTGTTTCCACACTTATGTCAAATCAGCTAAAGGATCTATTAAGGAGAACTGTAGAAGGATTTGTAAAACTCTTT
GACCCAAAAGATCAACAAAGGCTGCCAATATTTAAGATAGAATTGACATTTGATGACGACAAAATGGAATTTTATCCTACCTTTCAAGATTTGGAAGATAATGTC
TTGAGTTTGGTGGAACGAATAGCCGAAGCTCTGCAGAATGTCCAAACAATCCCCTCTTGGCTATCAGGAACTTCAACACCAGTAAATCTTGACACAGAACTTCCT
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>DNAH12|201625|protein
MSDANKAAIAAEKEALNLKLPPIVHLPENIGVDTPTQSKLLKYRRSKEQQQKINQLVIDGAKRNLDRTLGKRTPLLPPPDYPQTMTSEMKKKGFNYIYMKQCVES
SPLVPIQQEWLDHMLRLIPESLKEGKEREELLESLINEVSSDFENSMKRYLVQSVLVKPPVKSLEDEGGPLPESPVGLDYSNPWHSSYVQARNQIFSNLHIIHPT
MKMLLDLGYTTFADTVLLDFTGIRAKGPIDCESLKTDLSIQTRNAEEKIMNTWYPKVINLFTKKEALEGVKPEKLDAFYSCVSTLMSNQLKDLLRRTVEGFVKLF
DPKDQQRLPIFKIELTFDDDKMEFYPTFQDLEDNVLSLVERIAEALQNVQTIPSWLSGTSTPVNLDTELPEHVLHWAVDTLKAAVHRNLEGARKHYETYVEKYNW
LLDGTAVENIETFQTEDHTFDEYTEFIEKFLSLASEIMLLPQWIHYTMVRLDCEDLKTGLTNKAKAFANILLNDIASKYRKENECICSEFEAIKEHALKVPETTE
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top