Evidence Details for MED12
Basic Information Top
| Gene Symbol: | MED12 ( ARC240,CAGH45,FGS1,HOPA,KIAA0192,OKS,OPA1,TNRC11,TRAP230 ) |
|---|---|
| Gene Full Name: | mediator complex subunit 12 |
| Band: | Xq13.1 |
| Quick Links | Entrez ID:9968; OMIM: 300188; Uniprot ID:MED12_HUMAN; ENSEMBL ID: ENSG00000184634; HGNC ID: 11957 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MED12|9968|nucleotide
ATGGCGGCCTTCGGGATCTTGAGCTACGAACACCGGCCCCTGAAGCGGCCGCGGCTGGGGCCTCCCGATGTTTACCCTCAGGACCCCAAACAGAAGGAGGATGAA
CTGACGGCCTTGAATGTAAAACAAGGTTTCAATAACCAGCCTGCTGTCTCTGGGGATGAGCATGGCAGTGCCAAGAACGTCAGCTTCAATCCTGCCAAGATCAGT
TCCAACTTCAGCAGCATTATTGCAGAGAAATTACGTTGTAATACCCTTCCTGACACTGGTCGCAGGAAGCCCCAAGTGAACCAGAAGGATAACTTCTGGCTGGTG
ACTGCACGATCCCAGAGTGCCATTAACACTTGGTTCACTGACTTGGCTGGCACCAAGCCACTCACGCAACTAGCCAAAAAGGTCCCCATTTTCAGTAAGAAGGAA
GAGGTGTTTGGGTACTTAGCCAAATACACAGTGCCTGTGATGCGGGCTGCCTGGCTCATTAAGATGACCTGTGCCTACTATGCAGCAATCTCTGAGACCAAGGTT
AAGAAGAGACATGTTGACCCTTTCATGGAATGGACTCAGATCATCACCAAGTACTTATGGGAGCAGTTACAGAAGATGGCTGAATACTACCGGCCAGGGCCTGCA
GGAAGTGGGGGCTGTGGTTCCACGATAGGGCCCTTGCCCCATGATGTAGAGGTGGCAATCCGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAG
GATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCTGCTT
CTCCGATACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCAC
TCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTT
ATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGACCATCCTCCTGTGCTGTCCTAGTGCCTTGGTTTGGCACTACTCACTGACTGAT
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ATGGCGGCCTTCGGGATCTTGAGCTACGAACACCGGCCCCTGAAGCGGCCGCGGCTGGGGCCTCCCGATGTTTACCCTCAGGACCCCAAACAGAAGGAGGATGAA
CTGACGGCCTTGAATGTAAAACAAGGTTTCAATAACCAGCCTGCTGTCTCTGGGGATGAGCATGGCAGTGCCAAGAACGTCAGCTTCAATCCTGCCAAGATCAGT
TCCAACTTCAGCAGCATTATTGCAGAGAAATTACGTTGTAATACCCTTCCTGACACTGGTCGCAGGAAGCCCCAAGTGAACCAGAAGGATAACTTCTGGCTGGTG
ACTGCACGATCCCAGAGTGCCATTAACACTTGGTTCACTGACTTGGCTGGCACCAAGCCACTCACGCAACTAGCCAAAAAGGTCCCCATTTTCAGTAAGAAGGAA
GAGGTGTTTGGGTACTTAGCCAAATACACAGTGCCTGTGATGCGGGCTGCCTGGCTCATTAAGATGACCTGTGCCTACTATGCAGCAATCTCTGAGACCAAGGTT
AAGAAGAGACATGTTGACCCTTTCATGGAATGGACTCAGATCATCACCAAGTACTTATGGGAGCAGTTACAGAAGATGGCTGAATACTACCGGCCAGGGCCTGCA
GGAAGTGGGGGCTGTGGTTCCACGATAGGGCCCTTGCCCCATGATGTAGAGGTGGCAATCCGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAG
GATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCTGCTT
CTCCGATACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCAC
TCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTT
ATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGACCATCCTCCTGTGCTGTCCTAGTGCCTTGGTTTGGCACTACTCACTGACTGAT
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>MED12|9968|protein
MAAFGILSYEHRPLKRPRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVSFNPAKISSNFSSIIAEKLRCNTLPDTGRRKPQVNQKDNFWLV
TARSQSAINTWFTDLAGTKPLTQLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAISETKVKKRHVDPFMEWTQIITKYLWEQLQKMAEYYRPGPA
GSGGCGSTIGPLPHDVEVAIRQWDYTEKLAMFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVSSH
SSHVISAQSTSTLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAK
LREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVV
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MAAFGILSYEHRPLKRPRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVSFNPAKISSNFSSIIAEKLRCNTLPDTGRRKPQVNQKDNFWLV
TARSQSAINTWFTDLAGTKPLTQLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAISETKVKKRHVDPFMEWTQIITKYLWEQLQKMAEYYRPGPA
GSGGCGSTIGPLPHDVEVAIRQWDYTEKLAMFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVSSH
SSHVISAQSTSTLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAK
LREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVV
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | Yes | 0 (0) | 1 (1) | 0 (0) | 0 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 12 (4) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Lujan-Fryns syndrome (309520) |
| Description | Lujan-Fryns syndrome (X-linked ID with marfanoid habitus); 62.5% (20/32) of subjects with Lujan-Fryns syndrome have an autistic-like disorder |
| Reference(s) | 17036352; 17369503; 8725750; 16094260; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Wentz E, 2014 | - | - | - | - | Autistic disorder | 1 | - | 1 | - | 2 | - | 2 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 1
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | |||||||||||
| Beyer, 2002_1 | Germany, Austria | ABI PRISM 377 autosequencer |  | | ASD | - - |
- | 157 (49.04%) |
- - | ||
Large Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Halvardson J, 2016 | 5 | - | 7 | Mutations in HECW2 are associated with intellectual disability and epilepsy. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.