AutismKB 2.0

Evidence Details for C18orf54


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Basic Information Top
Gene Symbol:C18orf54 ( LAS2,MGC33382 )
Gene Full Name: chromosome 18 open reading frame 54
Band: 18q21.2
Quick LinksEntrez ID:162681; OMIM: 613258; Uniprot ID:CR054_HUMAN; ENSEMBL ID: ENSG00000166845; HGNC ID: 13796
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C18orf54|162681|nucleotide
ATGGCGAAATCAAAGACAAAACATAGACTTTGTTCTCAGGAATCTTCAGTATCTGCCCTGCTGGCAAGCTGCACCCTGAGTGGTAGTAATTCCTCTAATTCTGAT
GGCTCGTTTCACTATAAAGATAAGCTGTACAGATCTGCTTCTCAAGCTCTACAGGCTTATATTGATGATTTTGATCTAGGCCAAATATATCCTGGTGCAAGCACT
GGAAAAATTAACATTGATGAGGATTTTACTAATATGTCACAGTTCTGCAACTATATTTACAAACCAAACAATGCTTTTGAAAACCTTGATCACAAAAAGCACTCA
AACTTCATATCCTGTAGAAGACACACCGTTAATGACATAGACTCCATGAGCCTAACAACTGATGATCTATTAAGACTCCCAGCAGATGGATCATTTTCTTATACT
TATGTTGGACCGAGTCACCGAACGAGCAAGAAAAACAAGAAATGCCGTGGAAGACTGGGTTCATTGGACATTGAGAAGAATCCACATTTTCAAGGACCCTACACT
TCCATGGGCAAGGATAACTTTGTTACTCCTGTTATACGCTCAAATATAAATGGAAAGCAATGTGGTGACAAAATTGAATTGCTTATCTTGAAGGCCAAGAGAAAT
CTAGAGCAGTGTACTGAAGAATTACCAAAGTCCATGAAAAAGGATGACAGTCCTTGCTCATTAGATAAACTTGAAGCAGACAGATCATGGGAAAATATTCCTGTT
ACTTTCAAATCTCCTGTTCCCGTTAACTCTGATGATAGTCCTCAACAAACTTCAAGGGCAAAGAGTGCTAAAGGGGTTCTTGAAGACTTTCTAAATAATGATAAT
CAGAGCTGTACTCTCTCTGGAGGCAAACATCATGGTCCTGTTGAAGCCCTGAAACAAATGTTATTTAACCTTCAAGCAGTACAAGAACGTTTTAATCAAAATAAG
ACCACAGATCCAAAAGAAGAGATTAAACAAGTTTCAGAAGATGATTTCTCTAAATTACAGTTGAAGGAAAGTATGATTCCTATTACTAGGTCACTTCAGAAGGCT
TTGCACCATTTATCTCGCCTGAGAGACCTGGTTGATGATACGAATGGAGAACGGTCACCGAAAATGTGA
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>C18orf54|162681|protein
MAKSKTKHRLCSQESSVSALLASCTLSGSNSSNSDGSFHYKDKLYRSASQALQAYIDDFDLGQIYPGASTGKINIDEDFTNMSQFCNYIYKPNNAFENLDHKKHS
NFISCRRHTVNDIDSMSLTTDDLLRLPADGSFSYTYVGPSHRTSKKNKKCRGRLGSLDIEKNPHFQGPYTSMGKDNFVTPVIRSNINGKQCGDKIELLILKAKRN
LEQCTEELPKSMKKDDSPCSLDKLEADRSWENIPVTFKSPVPVNSDDSPQQTSRAKSAKGVLEDFLNNDNQSCTLSGGKHHGPVEALKQMLFNLQAVQERFNQNK
TTDPKEEIKQVSEDDFSKLQLKESMIPITRSLQKALHHLSRLRDLVDDTNGERSPKM

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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top