AutismKB 2.0

Evidence Details for UBR5


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Basic Information Top
Gene Symbol:UBR5 ( DD5,EDD,EDD1,FLJ11310,HYD,KIAA0896,MGC57263 )
Gene Full Name: ubiquitin protein ligase E3 component n-recognin 5
Band: 8q22.3
Quick LinksEntrez ID:51366; OMIM: 608413; Uniprot ID:UBR5_HUMAN; ENSEMBL ID: ENSG00000104517; HGNC ID: 16806
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UBR5|51366|nucleotide
ATGACGTCCATCCATTTCGTGGTTCACCCGCTGCCGGGCACCGAGGACCAGCTCAATGACAGGTTACGAGAAGTTTCTGAGAAGCTGAACAAATATAATTTAAAC
AGCCACCCCCCTTTGAATGTATTGGAACAGGCTACTATTAAACAGTGTGTGGTGGGACCAAATCATGCTGCCTTTCTTCTTGAGGATGGTAGAGTTTGCAGGATT
GGTTTTTCAGTACAGCCAGACAGATTGGAATTGGGTAAACCTGATAATAATGATGGGTCAAAGTTGAACAGCAACTCGGGGGCAGGGAGGACGTCAAGGCCTGGT
AGGACAAGCGACTCTCCATGGTTTCTCTCAGGTTCTGAGACTCTAGGCAGGCTGGCAGGCAACACCTTAGGAAGCCGCTGGAGTTCTGGAGTGGGTGGAAGTGGT
GGAGGATCCTCTGGTAGGTCATCAGCTGGAGCTCGAGATTCCCGCCGGCAGACTCGAGTTATTCGGACAGGACGGGATCGAGGGTCTGGGCTTTTGGGCAGTCAG
CCCCAGCCAGTTATTCCAGCATCTGTCATTCCAGAGGAGCTGATTTCACAGGCCCAAGTTGTTTTACAAGGCAAATCCAGAAGTGTCATTATTCGAGAACTTCAG
AGAACAAATCTTGATGTGAACCTTGCTGTAAATAATTTACTTAGCCGGGATGATGAAGATGGAGATGATGGGGATGATACAGCCAGCGAATCTTATTTGCCTGGA
GAGGATCTTATGTCTCTCCTTGATGCCGACATTCATTCTGCCCACCCAAGTGTCATTATTGATGCAGATGCCATGTTTTCTGAAGACATTAGCTATTTTGGTTAC
CCTTCTTTTCGTCGTTCATCACTTTCCAGGCTAGGCTCATCTCGAGTTCTCCTTCTTCCCTTAGAGAGAGACTCTGAGCTGTTGCGTGAACGTGAATCCGTTTTA
CGTTTACGTGAACGAAGGTGGCTTGATGGAGCCTCATTTGATAATGAAAGGGGTTCTACCAGCAAGGAAGGAGAGCCAAACTTGGATAAGAAGAATACACCTGTT
CAAAGTCCAGTATCTCTAGGAGAAGATTTGCAGTGGTGGCCTGATAAGGATGGAACAAAATTCATCTGTATTGGGGCTCTGTATTCTGAACTTCTGGCTGTCAGC
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>UBR5|51366|protein
MTSIHFVVHPLPGTEDQLNDRLREVSEKLNKYNLNSHPPLNVLEQATIKQCVVGPNHAAFLLEDGRVCRIGFSVQPDRLELGKPDNNDGSKLNSNSGAGRTSRPG
RTSDSPWFLSGSETLGRLAGNTLGSRWSSGVGGSGGGSSGRSSAGARDSRRQTRVIRTGRDRGSGLLGSQPQPVIPASVIPEELISQAQVVLQGKSRSVIIRELQ
RTNLDVNLAVNNLLSRDDEDGDDGDDTASESYLPGEDLMSLLDADIHSAHPSVIIDADAMFSEDISYFGYPSFRRSSLSRLGSSRVLLLPLERDSELLRERESVL
RLRERRWLDGASFDNERGSTSKEGEPNLDKKNTPVQSPVSLGEDLQWWPDKDGTKFICIGALYSELLAVSSKGELYQWKWSESEPYRNAQNPSLHHPRATFLGLT
NEKIVLLSANSIRATVATENNKVATWVDETLSSVASKLEHTAQTYSELQGERIVSLHCCALYTCAQLENSLYWWGVVPFSQRKKMLEKARAKNKKPKSSAGISSM
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top