AutismKB 2.0

Evidence Details for DBR1


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Basic Information Top
Gene Symbol:DBR1 ( - )
Gene Full Name: debranching enzyme homolog 1 (S. cerevisiae)
Band: 3q22.3
Quick LinksEntrez ID:51163; OMIM: 607024; Uniprot ID:DBR1_HUMAN; ENSEMBL ID: ENSG00000138231; HGNC ID: 15594
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DBR1|51163|nucleotide
ATGCGGGTGGCTGTGGCTGGCTGCTGCCACGGCGAGCTGGATAAGATCTATGAGACGCTGGCGCTGGCAGAGCGGCGCGGCCCGGGGCCTGTCGACCTCTTGCTG
TGCTGCGGCGACTTCCAGGCGGTGCGCAACGAGGCGGATCTACGCTGCATGGCCGTGCCGCCCAAGTATCGTCACATGCAAACCTTCTACAGGTATTACTCTGGA
GAGAAAAAGGCTCCAGTTCTCACGCTCTTCATTGGGGGAAACCATGAAGCCTCAAATCATTTGCAAGAGTTACCCTATGGTGGCTGGGTGGCACCAAACATTTAT
TATTTAGGTTTGGCTGGTGTGGTAAAATACCGAGGTGTAAGGATCGGTGGAATCTCTGGTATCTTTAAATCTCATGACTATCGAAAAGGTCATTTTGAGTGCCCC
CCTTATAATTCATCTACAATCAGGAGTATATATCATGTGAGAAATATTGAAGTCTATAAATTAAAACAGCTGAAGCAGCCTATAGATATATTCTTGTCTCATGAT
TGGCCAAGAAGTATATATCATTATGGAAATAAGAAGCAACTTCTTAAGACTAAATCTTTTTTCCGACAAGAAGTGGAAAATAACACATTAGGAAGTCCAGCTGCC
TCAGAGCTTTTAGAGCATCTCAAACCTACTTATTGGTTTTCTGCCCACCTTCATGTGAAGTTTGCCGCCTTGATGCAGCATCAGGCAAAGGATAAAGGACAGACA
GCCAGAGCAACCAAATTTTTAGCCTTGGACAAATGCTTACCACATAGAGATTTTCTTCAGATATTAGAGATAGAACATGACCCCAGTGCTCCTGATTACTTGGAA
TATGATATTGAATGGCTCACTATTCTCAGGGCTACGGATGATCTTATTAATGTGACTGGGCGCCTGTGGAATATGCCAGAAAATAATGGCCTGCATGCAAGGTGG
GATTATAGTGCAACAGAAGAAGGTATGAAAGAAGTATTGGAAAAATTGAATCATGATCTCAAGGTTCCATGTAACTTTAGTGTAACAGCTGCTTGTTATGATCCT
AGCAAGCCACAGACACAAATGCAGCTGATTCATAGGATCAATCCTCAGACAACTGAATTTTGTGCCCAACTTGGCATCATAGACATCAATGTTAGGCTTCAGAAG
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>DBR1|51163|protein
MRVAVAGCCHGELDKIYETLALAERRGPGPVDLLLCCGDFQAVRNEADLRCMAVPPKYRHMQTFYRYYSGEKKAPVLTLFIGGNHEASNHLQELPYGGWVAPNIY
YLGLAGVVKYRGVRIGGISGIFKSHDYRKGHFECPPYNSSTIRSIYHVRNIEVYKLKQLKQPIDIFLSHDWPRSIYHYGNKKQLLKTKSFFRQEVENNTLGSPAA
SELLEHLKPTYWFSAHLHVKFAALMQHQAKDKGQTARATKFLALDKCLPHRDFLQILEIEHDPSAPDYLEYDIEWLTILRATDDLINVTGRLWNMPENNGLHARW
DYSATEEGMKEVLEKLNHDLKVPCNFSVTAACYDPSKPQTQMQLIHRINPQTTEFCAQLGIIDINVRLQKSKEEHHVCGEYEEQDDVESNDSGEDQSEYNTDTSA
LSSINPDEIMLDEEEDEDSIVSAHSGMNTPSVEPSDQASEFSASFSDVRILPGSMIVSSDDTVDSTIDREGKPGGTVESGNGEDLTKVPLKRLSDEHEPEQRKKI
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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 (1) 0 (0) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
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
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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