Evidence Details for MLC1
Basic Information Top
| Gene Symbol: | MLC1 ( KIAA0027,LVM,MLC,VL ) |
|---|---|
| Gene Full Name: | megalencephalic leukoencephalopathy with subcortical cysts 1 |
| Band: | 22q13.33 |
| Quick Links | Entrez ID:23209; OMIM: 605908; Uniprot ID:MLC1_HUMAN; ENSEMBL ID: ENSG00000100427; HGNC ID: 17082 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MLC1|23209|nucleotide
ATGACCCAGGAGCCATTCAGAGAGGAGCTGGCCTATGACCGGATGCCCACGCTGGAGCGGGGCCGGCAAGACCCCGCCAGCTATGCCCCAGACGCGAAGCCGAGC
GACCTGCAGCTGTCGAAGAGACTGCCCCCCTGCTTCAGCCACAAGACGTGGGTCTTCTCTGTGCTGATGGGGAGCTGCCTCCTGGTGACCTCGGGGTTTTCGCTG
TACCTGGGGAACGTGTTCCCGGCTGAGATGGATTACTTGCGCTGTGCTGCAGGCTCTTGCATCCCCTCGGCAATTGTGAGCTTCACCGTCTCCAGGAGGAACGCC
AATGTGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATA
AACATCAACTTCAACCTCATCCTGCTGCTCCTGCTGGAGCTGCTCATGGCGGCCACGGTGATCATCGCTGCACGGTCCAGCGAGGAGGACTGCAAGAAAAAGAAG
GGCTCCATGTCTGACAGCGCCAACATTCTGGACGAAGTGCCATTTCCTGCTCGGGTCCTGAAATCTTACTCAGTCGTCGAGGTAATCGCAGGCATCTCTGCCGTC
CTCGGGGGGATCATTGCCCTGAACGTGGATGACTCAGTTTCAGGCCCACACCTCTCAGTGACGTTCTTTTGGATCCTAGTGGCCTGCTTTCCAAGTGCCATTGCC
AGTCATGTGGCAGCAGAGTGTCCCAGCAAGTGTCTGGTGGAGGTCCTGATTGCCATAAGCAGCCTCACGTCTCCGCTGCTGTTCACAGCCTCTGGATATCTGTCA
TTCAGCATCATGAGAATCGTGGAGATGTTTAAGGATTACCCGCCAGCCATAAAACCATCCTACGATGTGCTGCTGCTGCTGCTGCTGCTAGTGCTCCTGCTGCAG
GCCGGCCTCAACACGGGCACCGCCATCCAGTGCGTGCGCTTCAAGGTCAGTGCAAGGCTGCAGGGTGCATCCTGGGACACCCAGAACGGCCCGCAGGAGCGCCTG
GCTGGGGAGGTGGCCAGGAGCCCCCTGAAGGAGTTCGACAAGGAGAAAGCCTGGAGAGCCGTCGTGGTGCAAATGGCCCAGTGA
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ATGACCCAGGAGCCATTCAGAGAGGAGCTGGCCTATGACCGGATGCCCACGCTGGAGCGGGGCCGGCAAGACCCCGCCAGCTATGCCCCAGACGCGAAGCCGAGC
GACCTGCAGCTGTCGAAGAGACTGCCCCCCTGCTTCAGCCACAAGACGTGGGTCTTCTCTGTGCTGATGGGGAGCTGCCTCCTGGTGACCTCGGGGTTTTCGCTG
TACCTGGGGAACGTGTTCCCGGCTGAGATGGATTACTTGCGCTGTGCTGCAGGCTCTTGCATCCCCTCGGCAATTGTGAGCTTCACCGTCTCCAGGAGGAACGCC
AATGTGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATA
AACATCAACTTCAACCTCATCCTGCTGCTCCTGCTGGAGCTGCTCATGGCGGCCACGGTGATCATCGCTGCACGGTCCAGCGAGGAGGACTGCAAGAAAAAGAAG
GGCTCCATGTCTGACAGCGCCAACATTCTGGACGAAGTGCCATTTCCTGCTCGGGTCCTGAAATCTTACTCAGTCGTCGAGGTAATCGCAGGCATCTCTGCCGTC
CTCGGGGGGATCATTGCCCTGAACGTGGATGACTCAGTTTCAGGCCCACACCTCTCAGTGACGTTCTTTTGGATCCTAGTGGCCTGCTTTCCAAGTGCCATTGCC
AGTCATGTGGCAGCAGAGTGTCCCAGCAAGTGTCTGGTGGAGGTCCTGATTGCCATAAGCAGCCTCACGTCTCCGCTGCTGTTCACAGCCTCTGGATATCTGTCA
TTCAGCATCATGAGAATCGTGGAGATGTTTAAGGATTACCCGCCAGCCATAAAACCATCCTACGATGTGCTGCTGCTGCTGCTGCTGCTAGTGCTCCTGCTGCAG
GCCGGCCTCAACACGGGCACCGCCATCCAGTGCGTGCGCTTCAAGGTCAGTGCAAGGCTGCAGGGTGCATCCTGGGACACCCAGAACGGCCCGCAGGAGCGCCTG
GCTGGGGAGGTGGCCAGGAGCCCCCTGAAGGAGTTCGACAAGGAGAAAGCCTGGAGAGCCGTCGTGGTGCAAATGGCCCAGTGA
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>MLC1|23209|protein
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEMDYLRCAAGSCIPSAIVSFTVSRRNA
NVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAV
LGGIIALNVDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQ
AGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ
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MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEMDYLRCAAGSCIPSAIVSFTVSRRNA
NVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAV
LGGIIALNVDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQ
AGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ
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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) | No | 0 (0) | 2 (10) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (10) |
Syndromic Autism Gene TopGenome-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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Goizet, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Sebat, 2007 | USA | aCGH |  | | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top