Evidence Details for MLKL
Basic Information Top
| Gene Symbol: | MLKL ( FLJ34389 ) |
|---|---|
| Gene Full Name: | mixed lineage kinase domain-like |
| Band: | 16q22.3 |
| Quick Links | Entrez ID:197259; OMIM: NA; Uniprot ID:MLKL_HUMAN; ENSEMBL ID: ENSG00000168404; HGNC ID: 26617 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MLKL|197259|nucleotide
ATGGAAAATTTGAAGCATATTATCACCCTTGGCCAGGTCATCCACAAACGGTGTGAAGAGATGAAATACTGCAAGAAACAGTGCCGGCGCCTGGGCCACCGCGTC
CTCGGCCTGATCAAGCCTCTGGAGATGCTCCAGGACCAAGGAAAGAGGAGCGTGCCCTCTGAGAAGTTAACCACAGCCATGAACCGCTTCAAGGCTGCCCTGGAG
GAGGCTAATGGGGAGATAGAAAAGTTCAGCAATAGATCCAATATCTGCAGGTTTCTAACAGCAAGCCAGGACAAAATACTCTTCAAGGACGTGAACAGGAAGCTG
AGTGATGTCTGGAAGGAGCTCTCGCTGTTACTTCAGGTTGAGCAACGCATGCCTGTTTCACCCATAAGCCAAGGAGCGTCCTGGGCACAGGAAGATCAGCAGGAT
GCAGACGAAGACAGGCGAGCTTTCCAGATGCTAAGAAGAGATAATGAAAAAATAGAAGCTTCACTGAGACGATTAGAAATCAACATGAAAGAAATCAAGGAAACT
TTGAGGCAGTCTTTGGAATCGTCCTCTGGGAAATCGCCACTGGAGATATCCCGTTTCAAGGTGAAGAATGTGAAGACTGGCTCAGCCAGTGGCTGTAATTCTGAG
AAGATCCGCAAGCTGGTGGCTGTGAAGCGGCAGCAGGAGCCACTGGGTGAAGACTGCCCTTCAGAGCTGCGGGAGATCATTGATGAGTGCCGGGCCCATGATCCC
TCTGTGCGGCCCTCTGTGGATGAAATCTTAAAGAAACTCTCCACCTTTTCTAAGTAG
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ATGGAAAATTTGAAGCATATTATCACCCTTGGCCAGGTCATCCACAAACGGTGTGAAGAGATGAAATACTGCAAGAAACAGTGCCGGCGCCTGGGCCACCGCGTC
CTCGGCCTGATCAAGCCTCTGGAGATGCTCCAGGACCAAGGAAAGAGGAGCGTGCCCTCTGAGAAGTTAACCACAGCCATGAACCGCTTCAAGGCTGCCCTGGAG
GAGGCTAATGGGGAGATAGAAAAGTTCAGCAATAGATCCAATATCTGCAGGTTTCTAACAGCAAGCCAGGACAAAATACTCTTCAAGGACGTGAACAGGAAGCTG
AGTGATGTCTGGAAGGAGCTCTCGCTGTTACTTCAGGTTGAGCAACGCATGCCTGTTTCACCCATAAGCCAAGGAGCGTCCTGGGCACAGGAAGATCAGCAGGAT
GCAGACGAAGACAGGCGAGCTTTCCAGATGCTAAGAAGAGATAATGAAAAAATAGAAGCTTCACTGAGACGATTAGAAATCAACATGAAAGAAATCAAGGAAACT
TTGAGGCAGTCTTTGGAATCGTCCTCTGGGAAATCGCCACTGGAGATATCCCGTTTCAAGGTGAAGAATGTGAAGACTGGCTCAGCCAGTGGCTGTAATTCTGAG
AAGATCCGCAAGCTGGTGGCTGTGAAGCGGCAGCAGGAGCCACTGGGTGAAGACTGCCCTTCAGAGCTGCGGGAGATCATTGATGAGTGCCGGGCCCATGATCCC
TCTGTGCGGCCCTCTGTGGATGAAATCTTAAAGAAACTCTCCACCTTTTCTAAGTAG
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>MLKL|197259|protein
MENLKHIITLGQVIHKRCEEMKYCKKQCRRLGHRVLGLIKPLEMLQDQGKRSVPSEKLTTAMNRFKAALEEANGEIEKFSNRSNICRFLTASQDKILFKDVNRKL
SDVWKELSLLLQVEQRMPVSPISQGASWAQEDQQDADEDRRAFQMLRRDNEKIEASLRRLEINMKEIKETLRQSLESSSGKSPLEISRFKVKNVKTGSASGCNSE
KIRKLVAVKRQQEPLGEDCPSELREIIDECRAHDPSVRPSVDEILKKLSTFSK
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MENLKHIITLGQVIHKRCEEMKYCKKQCRRLGHRVLGLIKPLEMLQDQGKRSVPSEKLTTAMNRFKAALEEANGEIEKFSNRSNICRFLTASQDKILFKDVNRKL
SDVWKELSLLLQVEQRMPVSPISQGASWAQEDQQDADEDRRAFQMLRRDNEKIEASLRRLEINMKEIKETLRQSLESSSGKSPLEISRFKVKNVKTGSASGCNSE
KIRKLVAVKRQQEPLGEDCPSELREIIDECRAHDPSVRPSVDEILKKLSTFSK
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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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top