Evidence Details for MID1
Basic Information Top
| Gene Symbol: | MID1 ( BBBG1,FLJ57031,FLJ58683,FLJ76288,FXY,GBBB1,MIDIN,OGS1,OS,OSX,RNF59,TRIM18,XPRF,ZNFXY ) |
|---|---|
| Gene Full Name: | midline 1 (Opitz/BBB syndrome) |
| Band: | Xp22 |
| Quick Links | Entrez ID:4281; OMIM: 300552; Uniprot ID:TRI18_HUMAN; ENSEMBL ID: ENSG00000101871; HGNC ID: 7095 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MID1|4281|nucleotide
ATGGAAACACTGGAGTCAGAACTGACCTGCCCTATTTGTCTGGAGCTCTTTGAGGACCCTCTTCTACTGCCCTGCGCACACAGCCTCTGCTTCAACTGCGCCCAC
CGCATCCTAGTATCACACTGTGCCACCAACGAGTCTGTGGAGTCCATCACCGCCTTCCAGTGCCCCACCTGCCGGCATGTCATCACCCTCAGCCAGCGAGGTCTA
GACGGGCTCAAGCGCAACGTCACCCTACAGAACATCATCGACAGGTTCCAGAAAGCATCAGTGAGCGGGCCCAACTCTCCCAGCGAGACCCGTCGGGAGCGGGCC
TTTGACGCCAACACCATGACCTCCGCCGAGAAGGTCCTCTGCCAGTTTTGTGACCAGGATCCTGCCCAGGACGCTGTGAAGACCTGTGTCACTTGTGAAGTATCC
TACTGTGACGAGTGCCTGAAAGCCACTCACCCGAATAAGAAGCCCTTTACAGGCCATCGTCTGATTGAGCCAATTCCGGACTCTCACATCCGGGGGCTGATGTGC
TTGGAGCATGAGGATGAGAAGGTGAATATGTACTGTGTGACCGATGACCAGTTAATCTGTGCCTTGTGTAAACTGGTTGGGCGGCACCGCGATCATCAGGTGGCA
GCTTTGAGTGAGCGCTATGACAAATTGAAGCAAAACTTAGAGAGTAACCTCACCAACCTTATTAAGAGGAACACAGAACTGGAGACCCTTTTGGCTAAACTCATC
CAAACCTGTCAACATGTTGAAGTCAATGCATCACGTCAAGAAGCCAAATTGACAGAGGAGTGTGATCTTCTCATTGAGATCATTCAGCAAAGACGACAGATTATT
GGAACCAAGATCAAAGAAGGGAAGGTGATGAGGCTTCGCAAACTGGCTCAGCAGATTGCAAACTGCAAACAGTGCATTGAGCGGTCAGCATCACTCATCTCCCAA
GCGGAACACTCTCTGAAGGAGAATGATCATGCGCGTTTCCTACAGACTGCTAAGAATATCACCGAGAGAGTCTCCATGGCAACTGCATCCTCCCAGGTTCTAATT
CCTGAAATCAACCTCAATGACACATTTGACACCTTTGCCTTAGATTTTTCCCGAGAGAAGAAACTGCTAGAATGTCTGGATTACCTTACAGCTCCCAACCCTCCC
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ATGGAAACACTGGAGTCAGAACTGACCTGCCCTATTTGTCTGGAGCTCTTTGAGGACCCTCTTCTACTGCCCTGCGCACACAGCCTCTGCTTCAACTGCGCCCAC
CGCATCCTAGTATCACACTGTGCCACCAACGAGTCTGTGGAGTCCATCACCGCCTTCCAGTGCCCCACCTGCCGGCATGTCATCACCCTCAGCCAGCGAGGTCTA
GACGGGCTCAAGCGCAACGTCACCCTACAGAACATCATCGACAGGTTCCAGAAAGCATCAGTGAGCGGGCCCAACTCTCCCAGCGAGACCCGTCGGGAGCGGGCC
TTTGACGCCAACACCATGACCTCCGCCGAGAAGGTCCTCTGCCAGTTTTGTGACCAGGATCCTGCCCAGGACGCTGTGAAGACCTGTGTCACTTGTGAAGTATCC
TACTGTGACGAGTGCCTGAAAGCCACTCACCCGAATAAGAAGCCCTTTACAGGCCATCGTCTGATTGAGCCAATTCCGGACTCTCACATCCGGGGGCTGATGTGC
TTGGAGCATGAGGATGAGAAGGTGAATATGTACTGTGTGACCGATGACCAGTTAATCTGTGCCTTGTGTAAACTGGTTGGGCGGCACCGCGATCATCAGGTGGCA
GCTTTGAGTGAGCGCTATGACAAATTGAAGCAAAACTTAGAGAGTAACCTCACCAACCTTATTAAGAGGAACACAGAACTGGAGACCCTTTTGGCTAAACTCATC
CAAACCTGTCAACATGTTGAAGTCAATGCATCACGTCAAGAAGCCAAATTGACAGAGGAGTGTGATCTTCTCATTGAGATCATTCAGCAAAGACGACAGATTATT
GGAACCAAGATCAAAGAAGGGAAGGTGATGAGGCTTCGCAAACTGGCTCAGCAGATTGCAAACTGCAAACAGTGCATTGAGCGGTCAGCATCACTCATCTCCCAA
GCGGAACACTCTCTGAAGGAGAATGATCATGCGCGTTTCCTACAGACTGCTAAGAATATCACCGAGAGAGTCTCCATGGCAACTGCATCCTCCCAGGTTCTAATT
CCTGAAATCAACCTCAATGACACATTTGACACCTTTGCCTTAGATTTTTCCCGAGAGAAGAAACTGCTAGAATGTCTGGATTACCTTACAGCTCCCAACCCTCCC
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>MID1|4281|protein
METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERA
FDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVA
ALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQ
AEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTI
FTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQ
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METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRERA
FDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVA
ALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQ
AEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTI
FTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQ
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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 (5) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 3 (8) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Opitz G syndrome, type I (300000) |
| Description | Opitz syndrome (Opitz/BBB syndrome) |
| Reference(s) | 11030761; 18697196; |
| 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 | ||||||
| Thomas, 1999 | - | FISH |  |  | autism | - | - | - | - | 3 | - | 3 |
| Christian, 2008 | USA | aCGH | | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| Vazna, 2010 | Czech | aCGH | | | ASD | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Garbett, 2008_1 | Unknown | superior temporal gyrus (STG) | 6 (33.33%) | - | - | - | autism | 6 (33.33%) |
1.06523 | Up | 0.0151643 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
NGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
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.