AutismKB 2.0

Evidence Details for UGDH


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Basic Information Top
Gene Symbol:UGDH ( GDH,UDP-GlcDH,UDPGDH,UGD )
Gene Full Name: UDP-glucose 6-dehydrogenase
Band: 4p14
Quick LinksEntrez ID:7358; OMIM: 603370; Uniprot ID:UGDH_HUMAN; ENSEMBL ID: ENSG00000109814; HGNC ID: 12525
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UGDH|7358|nucleotide
ATGTTTGAAATTAAGAAGATCTGTTGCATCGGTGCAGGCTATGTTGGAGGACCCACATGTAGTGTCATTGCTCATATGTGTCCTGAAATCAGGGTAACGGTTGTT
GATGTCAATGAATCAAGAATCAATGCGTGGAATTCTCCTACACTTCCTATTTATGAGCCAGGACTAAAAGAAGTGGTAGAATCCTGTCGAGGAAAAAATCTTTTT
TTTTCTACCAATATTGATGATGCCATCAAAGAAGCTGATCTTGTATTTATTTCTGTGCTGTCCAACCCTGAGTTTCTGGCAGAGGGAACAGCCATCAAGGACCTA
AAGAACCCAGACAGAGTACTGATTGGAGGGGATGAAACTCCAGAGGGCCAGAGAGCTGTGCAGGCCCTGTGTGCTGTATATGAGCACTGGGTTCCCAGAGAAAAG
ATCCTCACCACTAATACTTGGTCTTCAGAGCTTTCCAAACTGGCAGCAAATGCTTTTCTTGCCCAGAGAATAAGCAGCATTAACTCCATAAGTGCTCTGTGTGAA
GCAACAGGAGCTGATGTAGAAGAGGTAGCAACAGCGATTGGAATGGACCAGAGAATTGGAAACAAGTTTCTAAAAGCCAGTGTTGGGTTTGGTGGGAGCTGTTTC
CAAAAGGATGTTCTGAATTTGGTTTATCTCTGTGAGGCTCTGAATTTGCCAGAAGTAGCTCGTTATTGGCAGCAGGTCATAGACATGAATGACTACCAGAGGAGG
AGGTTTGCTTCCCGGATCATAGATAGTCTGTTTAATACAGTAACTGATAAGAAGATAGCTATTTTGGGATTTGCATTCAAAAAGGACACTGGTGATACAAGAGAA
TCTTCTAGTATATATATTAGCAAATATTTGATGGATGAAGGTGCACATCTACATATATATGATCCAAAAGTACCTAGGGAACAAATAGTTGTGGATCTTTCTCAT
CCAGGTGTTTCAGAGGATGACCAAGTGTCCCGGCTCGTGACCATTTCCAAGGATCCATATGAAGCATGTGATGGTGCCCATGCTGTTGTTATTTGCACTGAGTGG
GACATGTTTAAGGAATTGGATTATGAACGCATTCATAAAAAAATGCTAAAGCCAGCCTTTATCTTCGATGGACGGCGTGTCCTGGATGGGCTCCACAATGAACTA
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>UGDH|7358|protein
MFEIKKICCIGAGYVGGPTCSVIAHMCPEIRVTVVDVNESRINAWNSPTLPIYEPGLKEVVESCRGKNLFFSTNIDDAIKEADLVFISVLSNPEFLAEGTAIKDL
KNPDRVLIGGDETPEGQRAVQALCAVYEHWVPREKILTTNTWSSELSKLAANAFLAQRISSINSISALCEATGADVEEVATAIGMDQRIGNKFLKASVGFGGSCF
QKDVLNLVYLCEALNLPEVARYWQQVIDMNDYQRRRFASRIIDSLFNTVTDKKIAILGFAFKKDTGDTRESSSIYISKYLMDEGAHLHIYDPKVPREQIVVDLSH
PGVSEDDQVSRLVTISKDPYEACDGAHAVVICTEWDMFKELDYERIHKKMLKPAFIFDGRRVLDGLHNELQTIGFQIETIGKKVSSKRIPYAPSGEIPKFSLQDP
PNKKPKV
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top