AutismKB 2.0

Evidence Details for EDEM3


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Basic Information Top
Gene Symbol:EDEM3 ( C1orf22 )
Gene Full Name: ER degradation enhancer, mannosidase alpha-like 3
Band: 1q25.3
Quick LinksEntrez ID:80267; OMIM: 610214; Uniprot ID:EDEM3_HUMAN; ENSEMBL ID: ENSG00000116406; HGNC ID: 16787
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EDEM3|80267|nucleotide
ATGAGCGAAGCCGGCGGCCGGGGCTGTGGGTCCCCGGTTCCCCAGCGAGCGCGATGGAGACTAGTGGCGGCGACGGCCGCGTTCTGCCTGGTGTCGGCCACCTCC
GTGTGGACGGCGGGGGCCGAGCCCATGAGTAGGGAGGAGAAACAGAAGCTTGGGAATCAAGTACTGGAAATGTTTGATCATGCTTATGGTAACTATATGGAACAT
GCTTACCCTGCTGATGAACTCATGCCTTTAACCTGTAGAGGTCGAGTTAGAGGCCAAGAGCCAAGTCGCGGTGACGTTGATGATGCCTTGGGAAAATTTTCTCTG
ACACTGATTGATTCTTTGGACACTCTTGTGGTTTTAAATAAAACTAAAGAATTTGAAGATGCAGTGAGAAAAGTTTTAAGAGATGTTAATTTAGATAACGATGTA
GTCGTATCAGTCTTTGAAACAAACATCAGAGTTCTTGGGGGTCTTTTGGGTGGGCACTCCCTGGCAATCATGCTGAAAGAAAAAGGTGAATATATGCAGTGGTAC
AATGATGAACTTCTCCAAATGGCAAAGCAGTTAGGTTACAAACTTTTACCGGCTTTCAACACTACCAGTGGCCTTCCTTATCCAAGAATTAATTTAAAGTTTGGC
ATCAGAAAACCAGAAGCTCGGACAGGAACTGAGACAGATACCTGTACAGCTTGTGCAGGTACCTTGATCCTTGAATTTGCTGCTTTAAGTCGATTCACAGGAGCA
ACAATATTTGAGGAATATGCCAGAAAAGCTCTTGATTTTCTCTGGGAAAAAAGACAGCGAAGTAGTAATTTAGTGGGCGTGACTATAAATATTCATACTGGAGAT
TGGGTACGAAAAGATAGTGGAGTTGGAGCAGGGATTGATTCATATTATGAATATCTGTTGAAAGCCTATGTCTTGCTTGGAGATGACAGTTTTCTGGAAAGATTT
AACACACACTATGATGCCATAATGAGGTATATTAGCCAGCCACCTCTTCTACTTGATGTGCATATCCACAAACCAATGCTGAATGCTCGGACTTGGATGGATGCT
TTGCTTGCCTTCTTCCCAGGCTTGCAGGTGTTAAAGGGGGATATTAGACCTGCTATTGAAACTCATGAAATGTTATATCAGGTGATTAAAAAACACAATTTTCTA
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>EDEM3|80267|protein
MSEAGGRGCGSPVPQRARWRLVAATAAFCLVSATSVWTAGAEPMSREEKQKLGNQVLEMFDHAYGNYMEHAYPADELMPLTCRGRVRGQEPSRGDVDDALGKFSL
TLIDSLDTLVVLNKTKEFEDAVRKVLRDVNLDNDVVVSVFETNIRVLGGLLGGHSLAIMLKEKGEYMQWYNDELLQMAKQLGYKLLPAFNTTSGLPYPRINLKFG
IRKPEARTGTETDTCTACAGTLILEFAALSRFTGATIFEEYARKALDFLWEKRQRSSNLVGVTINIHTGDWVRKDSGVGAGIDSYYEYLLKAYVLLGDDSFLERF
NTHYDAIMRYISQPPLLLDVHIHKPMLNARTWMDALLAFFPGLQVLKGDIRPAIETHEMLYQVIKKHNFLPEAFTTDFRVHWAQHPLRPEFAESTYFLYKATGDP
YYLEVGKTLIENLNKYARVPCGFAAMKDVRTGSHEDRMDSFFLAEMFKYLYLLFADKEDIIFDIEDYIFTTEAHLLPLWLSTTNQSISKKNTTSEYTELDDSNFD
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top