AutismKB 2.0

Evidence Details for MYBL2


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Basic Information Top
Gene Symbol:MYBL2 ( B-MYB,BMYB,MGC15600 )
Gene Full Name: v-myb myeloblastosis viral oncogene homolog (avian)-like 2
Band: 20q13.12
Quick LinksEntrez ID:4605; OMIM: 601415; Uniprot ID:MYBB_HUMAN; ENSEMBL ID: ENSG00000101057; HGNC ID: 7548
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYBL2|4605|nucleotide
ATGTCTCGGCGGACGCGCTGCGAGGATCTGGATGAGCTGCACTACCAGGACACAGATTCAGATGTGCCGGAGCAGAGGGATAGCAAGTGCAAGGTCAAATGGACC
CATGAGGAGGACGAGCAGCTGAGGGCCCTGGTGAGGCAGTTTGGACAGCAGGACTGGAAGTTCCTGGCCAGCCACTTCCCTAACCGCACTGACCAGCAATGCCAG
TACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTCATCGAGCTGGTTAAGAAGTATGGCACAAAGCAG
TGGACACTGATTGCCAAGCACCTGAAGGGCCGGCTGGGGAAGCAGTGCCGTGAACGCTGGCACAACCACCTCAACCCTGAGGTGAAGAAGTCTTGCTGGACCGAG
GAGGAGGACCGCATCATCTGCGAGGCCCACAAGGTGCTGGGCAACCGCTGGGCCGAGATCGCCAAGATGTTGCCAGGGAGGACAGACAATGCTGTGAAGAATCAC
TGGAACTCTACCATCAAAAGGAAGGTGGACACAGGAGGCTTCTTGAGCGAGTCCAAAGACTGCAAGCCCCCAGTGTACTTGCTGCTGGAGCTCGAGGACAAGGAC
GGCCTCCAGAGTGCCCAGCCCACGGAAGGCCAGGGAAGTCTTCTGACCAACTGGCCCTCCGTCCCTCCTACCATAAAGGAGGAGGAAAACAGTGAGGAGGAACTT
GCAGCAGCCACCACATCGAAGGAACAGGAGCCCATCGGTACAGATCTGGACGCAGTGCGAACACCAGAGCCCTTGGAGGAATTCCCGAAGCGTGAGGACCAGGAA
GGCTCCCCACCAGAAACGAGCCTGCCTTACAAGTGGGTGGTGGAGGCAGCTAACCTCCTCATCCCCGCTGTGGGTTCTAGCCTCTCTGAAGCCCTGGACTTGATC
GAGTCGGACCCTGATGCTTGGTGTGACCTGAGTAAATTTGACCTCCCTGAGGAACCATCTGCAGAGGACAGTATCAACAACAGCCTAGTGCAGCTGCAAGCGTCA
CATCAGCAGCAAGTCCTGCCACCCCGCCAGCCTTCCGCCCTGGTGCCCAGTGTGACCGAGTACCGCCTGGATGGCCACACCATCTCAGACCTGAGCCGGAGCAGC
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>MYBL2|4605|protein
MSRRTRCEDLDELHYQDTDSDVPEQRDSKCKVKWTHEEDEQLRALVRQFGQQDWKFLASHFPNRTDQQCQYRWLRVLNPDLVKGPWTKEEDQKVIELVKKYGTKQ
WTLIAKHLKGRLGKQCRERWHNHLNPEVKKSCWTEEEDRIICEAHKVLGNRWAEIAKMLPGRTDNAVKNHWNSTIKRKVDTGGFLSESKDCKPPVYLLLELEDKD
GLQSAQPTEGQGSLLTNWPSVPPTIKEEENSEEELAAATTSKEQEPIGTDLDAVRTPEPLEEFPKREDQEGSPPETSLPYKWVVEAANLLIPAVGSSLSEALDLI
ESDPDAWCDLSKFDLPEEPSAEDSINNSLVQLQASHQQQVLPPRQPSALVPSVTEYRLDGHTISDLSRSSRGELIPISPSTEVGGSGIGTPPSVLKRQRKRRVAL
SPVTENSTSLSFLDSCNSLTPKSTPVKTLPFSPSQFLNFWNKQDTLELESPSLTSTPVCSQKVVVTTPLHRDKTPLHQKHAAFVTPDQKYSMDNTPHTPTPFKNA
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018