Evidence Details for DNAH12
Basic Information Top
Gene Symbol: | DNAH12 ( DHC3,DLP12,DNAH12L,DNAH7L,DNAHC12,DNAHC3,DNHD2,FLJ40427,FLJ44290,HDHC3,HL-19,HL19 ) |
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Gene Full Name: | dynein, axonemal, heavy chain 12 |
Band: | 3p14.3 |
Quick Links | Entrez 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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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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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 |
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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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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