Evidence Details for MIA
Basic Information Top
Gene Symbol: | MIA ( CD-RAP ) |
---|---|
Gene Full Name: | melanoma inhibitory activity |
Band: | 19q13.2 |
Quick Links | Entrez ID:8190; OMIM: 601340; Uniprot ID:MIA_HUMAN; ENSEMBL ID: ENSG00000213054; HGNC ID: 7076 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MIA|8190|nucleotide
ATGGCCCGGTCCCTGGTGTGCCTTGGTGTCATCATCTTGCTGTCTGCCTTCTCCGGACCTGGTGTCAGGGGTGGTCCTATGCCCAAGCTGGCTGACCGGAAGCTG
TGTGCGGACCAGGAGTGCAGCCACCCTATCTCCATGGCTGTGGCCCTTCAGGACTACATGGCCCCCGACTGCCGATTCCTGACCATTCACCGGGGCCAAGTGGTG
TATGTCTTCTCCAAGCTGAAGGGCCGTGGGCGGCTCTTCTGGGGAGGCAGCGTTCAGGGAGATTACTATGGAGATCTGGCTGCTCGCCTGGGCTATTTCCCCAGT
AGCATTGTCCGAGAGGACCAGACCCTGAAACCTGGCAAAGTCGATGTGAAGACAGACAAATGGGATTTCTACTGCCAGTGA
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ATGGCCCGGTCCCTGGTGTGCCTTGGTGTCATCATCTTGCTGTCTGCCTTCTCCGGACCTGGTGTCAGGGGTGGTCCTATGCCCAAGCTGGCTGACCGGAAGCTG
TGTGCGGACCAGGAGTGCAGCCACCCTATCTCCATGGCTGTGGCCCTTCAGGACTACATGGCCCCCGACTGCCGATTCCTGACCATTCACCGGGGCCAAGTGGTG
TATGTCTTCTCCAAGCTGAAGGGCCGTGGGCGGCTCTTCTGGGGAGGCAGCGTTCAGGGAGATTACTATGGAGATCTGGCTGCTCGCCTGGGCTATTTCCCCAGT
AGCATTGTCCGAGAGGACCAGACCCTGAAACCTGGCAAAGTCGATGTGAAGACAGACAAATGGGATTTCTACTGCCAGTGA
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>MIA|8190|protein
MARSLVCLGVIILLSAFSGPGVRGGPMPKLADRKLCADQECSHPISMAVALQDYMAPDCRFLTIHRGQVVYVFSKLKGRGRLFWGGSVQGDYYGDLAARLGYFPS
SIVREDQTLKPGKVDVKTDKWDFYCQ
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MARSLVCLGVIILLSAFSGPGVRGGPMPKLADRKLCADQECSHPISMAVALQDYMAPDCRFLTIHRGQVVYVFSKLKGRGRLFWGGSVQGDYYGDLAARLGYFPS
SIVREDQTLKPGKVDVKTDKWDFYCQ
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Evidence summary Top
Click 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) | No | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) | autism with FMR1-FM | autism | 15 (-) |
1.36 | Up | 0.0000023 | |||
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Nishimura, 2007_2 | America | lymphoblastoid cell lines | 7 (-) | autism with dup(15q) | autism | 15 (-) |
1.29 | Up | 0.0000023 | |||
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Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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