AutismKB 2.0

Evidence Details for SMEK2


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Basic Information Top
Gene Symbol:SMEK2 ( FLFL2,FLJ31474,KIAA1387,PP4R3B,PSY2,smk1 )
Gene Full Name: SMEK homolog 2, suppressor of mek1 (Dictyostelium)
Band: 2p16.1
Quick LinksEntrez ID:57223; OMIM: 610352; Uniprot ID:P4R3B_HUMAN; ENSEMBL ID: ENSG00000138041; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMEK2|57223|nucleotide
ATGTCGGATACGCGGCGGCGAGTGAAGGTCTATACCCTGAACGAAGACCGGCAATGGGACGACCGAGGCACCGGGCACGTCTCCTCCACTTACGTGGAGGAGCTC
AAGGGGATGTCGCTGCTGGTTCGGGCAGAGTCCGACGGATCACTACTCTTGGAATCAAAGATAAATCCAAATACTGCATATCAGAAACAACAGGATACATTAATT
GTTTGGTCAGAAGCAGAGAACTATGATTTGGCTCTGAGTTTTCAGGAGAAAGCTGGCTGTGATGAGATCTGGGAAAAAATTTGTCAGGTTCAAGGTAAAGACCCA
TCAGTGGAAGTCACACAGGACCTCATTGATGAATCTGAAGAAGAACGATTTGAAGAAATGCCTGAAACTAGTCATCTGATTGACCTGCCCACATGTGAACTCAAT
AAACTTGAAGAGATTGCTGACTTAGTTACCTCAGTGCTCTCCTCACCTATCCGTAGGGAAAAGCTGGCTCTCGCCTTGGAAAATGAAGGCTATATTAAAAAACTA
TTGCAGCTGTTCCAAGCTTGCGAGAACCTAGAAAACACTGAAGGCTTACACCATTTGTATGAAATTATTAGAGGAATCTTATTCCTAAATAAGGCAACTCTTTTT
GAGGTAATGTTTTCTGATGAGTGTATCATGGATGTCGTGGGATGCCTTGAATATGACCCTGCTTTGGCTCAGCCAAAAAGACATAGAGAATTCTTGACCAAAACT
GCAAAGTTCAAGGAAGTTATACCAATAACAGACTCTGAACTAAGGCAAAAAATACATCAGACTTACAGGGTACAGTACATTCAGGACATCATTTTGCCCACACCA
TCTGTTTTTGAAGAGAATTTTCTTTCTACTCTTACGTCTTTTATTTTCTTCAACAAAGTTGAGATAGTCAGCATGTTGCAGGAAGATGAGAAGTTTTTGTCTGAA
GTTTTTGCACAATTAACAGATGAGGCTACAGATGATGATAAACGGCGTGAATTGGTTAATTTTTTCAAGGAGTTTTGTGCATTTTCTCAGACATTACAACCTCAA
AACAGGGATGCATTTTTCAAAACATTGGCAAAATTGGGAATTCTTCCTGCTCTTGAAATTGTAATGGGCATGGATGATTTGCAAGTCAGATCAGCTGCTACAGAT
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>SMEK2|57223|protein
MSDTRRRVKVYTLNEDRQWDDRGTGHVSSTYVEELKGMSLLVRAESDGSLLLESKINPNTAYQKQQDTLIVWSEAENYDLALSFQEKAGCDEIWEKICQVQGKDP
SVEVTQDLIDESEEERFEEMPETSHLIDLPTCELNKLEEIADLVTSVLSSPIRREKLALALENEGYIKKLLQLFQACENLENTEGLHHLYEIIRGILFLNKATLF
EVMFSDECIMDVVGCLEYDPALAQPKRHREFLTKTAKFKEVIPITDSELRQKIHQTYRVQYIQDIILPTPSVFEENFLSTLTSFIFFNKVEIVSMLQEDEKFLSE
VFAQLTDEATDDDKRRELVNFFKEFCAFSQTLQPQNRDAFFKTLAKLGILPALEIVMGMDDLQVRSAATDIFSYLVEFSPSMVREFVMQEAQQSDDDILLINVVI
EQMICDTDPELGGAVQLMGLLRTLIDPENMLATTNKTEKSEFLNFFYNHCMHVLTAPLLTNTSEDKCEKDFFLKHYRYSWSFICTPSHSHSHSTPSSSISQDNIV
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top