AutismKB 2.0

Evidence Details for MYCBP2


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Basic Information Top
Gene Symbol:MYCBP2 ( DKFZp686M08244,FLJ10106,FLJ13826,FLJ21597,FLJ21646,KIAA0916,PAM )
Gene Full Name: MYC binding protein 2
Band: 13q22.3
Quick LinksEntrez ID:23077; OMIM: 610392; Uniprot ID:MYCB2_HUMAN; ENSEMBL ID: ENSG00000005810; HGNC ID: 23386
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYCBP2|23077|nucleotide
ATGATGATGTGCGCAGCGACTGCCTCCCCCGCCGCCGCCTCCTCGGGGCTCGGCGGGGACGGATTCTACCCAGCCGCCACCTTCTCTTCCTCCCCGGCGCCGGGG
GCGCTGTTCATGCCGGTTCCCGACGGCTCCGTGGCTGCTGCGGGGCTGGGGCTGGGGCTACCCGCCGCGGACTCCCGGGGTCACTACCAGCTGCTGCTGTCAGGC
CGGGCCCTGGCCGACCGCTACCGGAGGATTTATACCGCTGCGCTCAATGACAGGGACCAGGGGGGCGGCAGCGCTGGACACCCAGCCTCCAGGAATAAGAAAATT
TTAAATAAGAAGAAATTGAAAAGAAAACAGAAGAGCAAATCAAAAGTGAAGACAAGAAGCAAGTCTGAAAACTTAGAGAATACAGTAATCATACCAGATATCAAA
CTACATAGCAATCCTTCTGCTTTCAATATTTACTGTAATGTACGCCATTGCGTTCTGGAATGGCAGAAAAAGGAAATATCATTGGCAGCCGCATCTAAGAACTCT
GTGCAGAGTGGAGAATCAGATAGTGATGAAGAAGAGGAATCCAAAGAGCCCCCTATCAAGCTTCCAAAGATTATTGAGGTTGGCCTTTGTGAAGTTTTTGAATTG
ATCAAAGAGACACGATTTTCTCATCCATCCCTGTGTCTCAGGAGTCTCCAAGCCCTGCTCAACGTGCTGCAGGGCCAGCAGCCAGAAGGCCTCCAGTCTGAGCCA
CCTGAGGTCCTAGAGTCTCTCTTCCAGCTTCTTTTGGAAATCACCGTTCGAAGTACTGGGATGAATGACAGCACAGGACAGTCCTTAACAGCACTTTCCTGTGCT
TGCCTCTTTAGTCTGGTGGCTTCTTGGGGAGAAACAGGAAGGACACTTCAGGCCATCTCTGCTATCCTCACCAACAATGGAAGCCATGCTTGCCAAACTATTCAG
GTGCCAACAATTCTAAATTCGCTACAGAGAAGTGTACAAGCAGTTTTGGTGGGAAAAATTCAAATTCAGGACTGGTTTAGTAATGGCATTAAGAAAGCAGCTTTA
ATGCACAAGTGGCCATTAAAAGAAATATCTGTTGATGAAGATGACCAATGTCTACTTCAGAATGATGGATTTTTTCTTTATCTATTATGCAAGGATGGATTATAT
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>MYCBP2|23077|protein
MMMCAATASPAAASSGLGGDGFYPAATFSSSPAPGALFMPVPDGSVAAAGLGLGLPAADSRGHYQLLLSGRALADRYRRIYTAALNDRDQGGGSAGHPASRNKKI
LNKKKLKRKQKSKSKVKTRSKSENLENTVIIPDIKLHSNPSAFNIYCNVRHCVLEWQKKEISLAAASKNSVQSGESDSDEEEESKEPPIKLPKIIEVGLCEVFEL
IKETRFSHPSLCLRSLQALLNVLQGQQPEGLQSEPPEVLESLFQLLLEITVRSTGMNDSTGQSLTALSCACLFSLVASWGETGRTLQAISAILTNNGSHACQTIQ
VPTILNSLQRSVQAVLVGKIQIQDWFSNGIKKAALMHKWPLKEISVDEDDQCLLQNDGFFLYLLCKDGLYKIGSGYSGTVRGHIYNSTSRIRNRKEKKSWLGYAQ
GYLLYRDVNNHSMTAIRISPETLEQDGTVMLPDCHTEGQNILFTDGEYINQIAASRDDGFVVRIFATSTEPVLQQELQLKLARKCLHACGISLFDLEKDLHIIST
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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 (1) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 1 (1) 12 (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
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top