AutismKB 2.0

Evidence Details for MKL1


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Basic Information Top
Gene Symbol:MKL1 ( BSAC,MAL,MRTF-A )
Gene Full Name: megakaryoblastic leukemia (translocation) 1
Band: 22q13.1-q13.2
Quick LinksEntrez ID:57591; OMIM: 606078; Uniprot ID:MKL1_HUMAN; ENSEMBL ID: ENSG00000196588; HGNC ID: 14334
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MKL1|57591|nucleotide
ATGCCGCCTTTGAAAAGTCCAGCCGCATTTCATGAGCAGAGAAGGAGCTTGGAGCGGGCCAGGACAGAGGACTATCTCAAACGGAAGATTCGTTCCCGGCCGGAG
AGATCGGAGCTGGTCAGGATGCACATTTTGGAAGAGACCTCGGCTGAGCCATCCCTCCAGGCCAAGCAGCTGAAGCTGAAGAGAGCCAGACTAGCCGATGACCTC
AATGAGAAGATTGCACAGAGGCCTGGCCCCATGGAGCTGGTGGAGAAGAACATCCTTCCTGTTGAGTCCAGCCTGAAGGAAGCCATCATTGTGGGCCAGGTGAAC
TATCCCAAAGTAGCAGACAGCTCTTCCTTCGATGAGGACAGCAGCGATGCCTTATCCCCCGAGCAGCCTGCCAGCCATGAGTCCCAGGGTTCTGTGCCGTCACCC
CTGGAGGCCCGAGTCAGCGAACCACTGCTCAGTGCCACCTCTGCATCCCCCACCCAGGTTGTGTCTCAACTTCCGATGGGCCGGGATTCCAGAGAAATGCTTTTC
CTGGCAGAGCAGCCTCCTCTGCCTCCCCCACCTCTGCTGCCTCCCAGCCTCACCAATGGAACCACTATCCCCACTGCCAAGTCCACCCCCACACTCATTAAGCAA
AGCCAACCCAAGTCTGCCAGTGAGAAGTCACAGCGCAGCAAGAAGGCCAAGGAGCTGAAGCCAAAGGTGAAGAAGCTCAAGTACCACCAGTACATCCCCCCGGAC
CAGAAGCAGGACAGGGGGGCACCCCCCATGGACTCATCCTACGCCAAGATCCTGCAGCAGCAGCAGCTCTTCCTCCAGCTGCAGATCCTCAACCAGCAGCAGCAG
CAGCACCACAACTACCAGGCCATCCTGCCTGCCCCGCCAAAGTCAGCAGGCGAGGCCCTGGGAAGCAGCGGGACCCCCCCAGTACGCAGCCTCTCCACTACCAAT
AGCAGCTCCAGCTCGGGCGCCCCTGGGCCCTGTGGGCTGGCACGTCAGAACAGCACCTCACTGACTGGCAAGCCGGGAGCCCTGCCGGCCAACCTGGACGACATG
AAGGTGGCAGAGCTGAAGCAGGAGCTGAAGTTGCGATCACTGCCTGTCTCGGGCACCAAAACTGAGCTGATTGAGCGCCTTCGAGCCTATCAAGACCAAATCAGC
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>MKL1|57591|protein
MPPLKSPAAFHEQRRSLERARTEDYLKRKIRSRPERSELVRMHILEETSAEPSLQAKQLKLKRARLADDLNEKIAQRPGPMELVEKNILPVESSLKEAIIVGQVN
YPKVADSSSFDEDSSDALSPEQPASHESQGSVPSPLEARVSEPLLSATSASPTQVVSQLPMGRDSREMLFLAEQPPLPPPPLLPPSLTNGTTIPTAKSTPTLIKQ
SQPKSASEKSQRSKKAKELKPKVKKLKYHQYIPPDQKQDRGAPPMDSSYAKILQQQQLFLQLQILNQQQQQHHNYQAILPAPPKSAGEALGSSGTPPVRSLSTTN
SSSSSGAPGPCGLARQNSTSLTGKPGALPANLDDMKVAELKQELKLRSLPVSGTKTELIERLRAYQDQISPVPGAPKAPAATSILHKAGEVVVAFPAARLSTGPA
LVAAGLAPAEVVVATVASSGVVKFGSTGSTPPVSPTPSERSLLSTGDENSTPGDTFGEMVTSPLTQLTLQASPLQILVKEEGPRAGSCCLSPGGRAELEGRDKDQ
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Evidence summary Top

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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top