AutismKB 2.0

Evidence Details for MYBBP1A


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Basic Information Top
Gene Symbol:MYBBP1A ( FLJ37886,P160,PAP2 )
Gene Full Name: MYB binding protein (P160) 1a
Band: 17p13.2
Quick LinksEntrez ID:10514; OMIM: 604885; Uniprot ID:MBB1A_HUMAN; ENSEMBL ID: ENSG00000132382; HGNC ID: 7546
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYBBP1A|10514|nucleotide
ATGGAGAGCCGGGATCCCGCCCAGCCGATGTCGCCTGGAGAAGCGACGCAGAGTGGCGCCCGGCCTGCCGACCGCTATGGCCTATTGAAGCACAGTCGCGAGTTC
TTGGACTTCTTCTGGGACATTGCGAAGCCTGAGCAGGAGACGCGACTTGCGGCCACGGAGAAGCTGCTGGAGTATCTGCGTGGCAGGCCGAAGGGGTCCGAGATG
AAATATGCCCTGAAGCGTCTAATCACGGGACTCGGGGTCGGGCGAGAAACAGCCCGGCCCTGCTACAGTTTGGCCCTGGCACAGCTGTTACAGTCTTTTGAAGAC
CTCCCCTTGTGCAGCATCCTGCAGCAGATACAAGAAAAATATGACCTGCATCAGGTGAAGAAGGCAATGCTGAGACCTGCTCTCTTTGCAAACCTGTTTGGAGTG
CTCGCCCTCTTTCAGTCAGGTCGGCTGGTGAAGGACCAGGAGGCACTGATGAAGTCGGTGAAGCTGCTGCAGGCCCTGGCCCAGTACCAAAACCACTTGCAGGAG
CAGCCCCGGAAGGCCCTGGTGGACATCCTCTCCGAGGTCTCGAAGGCCACATTGCAGGAGATCCTGCCGGAGGTCCTCAAAGCCGACTTGAATATAATACTCAGC
TCCCCTGAACAGCTAGAGCTCTTCCTCCTGGCCCAGCAGAAGGTGCCCTCCAAGCTCAAGAAGCTGGTGGGATCCGTGAACCTATTCTCAGATGAGAATGTCCCC
AGGCTGGTGAATGTGCTGAAGATGGCCGCCTCCTCTGTGAAGAAGGACCGCAAGCTGCCCGCCATTGCTCTGGACCTGCTCCGCCTGGCACTCAAGGAAGACAAG
TTCCCACGGTTCTGGAAGGAGGTGGTGGAACAAGGGCTGCTGAAGATGCAGTTCTGGCCAGCCAGCTACCTGTGTTTCCGCCTGCTGGGCGCGGCCCTGCCCCTG
CTGACCAAGGAGCAGCTGCACCTGGTGATGCAGGGAGACGTGATCCGCCATTACGGGGAGCACGTGTGCACTGCTAAGCTCCCAAAGCAGTTCAAGTTTGCCCCA
GAGATGGACGATTACGTGGGCACCTTCCTAGAGGGGTGCCAGGATGACCCTGAGCGGCAGCTGGCCGTGCTAGTGGCCTTCTCATCTGTCACCAACCAAGGCCTC
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>MYBBP1A|10514|protein
MESRDPAQPMSPGEATQSGARPADRYGLLKHSREFLDFFWDIAKPEQETRLAATEKLLEYLRGRPKGSEMKYALKRLITGLGVGRETARPCYSLALAQLLQSFED
LPLCSILQQIQEKYDLHQVKKAMLRPALFANLFGVLALFQSGRLVKDQEALMKSVKLLQALAQYQNHLQEQPRKALVDILSEVSKATLQEILPEVLKADLNIILS
SPEQLELFLLAQQKVPSKLKKLVGSVNLFSDENVPRLVNVLKMAASSVKKDRKLPAIALDLLRLALKEDKFPRFWKEVVEQGLLKMQFWPASYLCFRLLGAALPL
LTKEQLHLVMQGDVIRHYGEHVCTAKLPKQFKFAPEMDDYVGTFLEGCQDDPERQLAVLVAFSSVTNQGLPVTPTFWRVVRFLSPPALQGYVAWLRAMFLQPDLD
SLVDFSTNNQKKAQDSSLHMPERAVFRLRKWIIFRLVSIVDSLHLEMEEALTEQVARFCLFHSFFVTKKPTSQIPETKHPFSFPLENQAREAVSSAFFSLLQTLS
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top