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