AutismKB 2.0

Evidence Details for UBR2


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Basic Information Top
Gene Symbol:UBR2 ( C6orf133,DKFZp686C08114,FLJ36357,KIAA0349,MGC71112,RP3-392M17.3,bA49A4.1,dJ242G1.1,dJ392M17.3 )
Gene Full Name: ubiquitin protein ligase E3 component n-recognin 2
Band: 6p21.1
Quick LinksEntrez ID:23304; OMIM: 609134; Uniprot ID:UBR2_HUMAN; ENSEMBL ID: ENSG00000024048; HGNC ID: 21289
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UBR2|23304|nucleotide
ATGGCGTCGGAGCTAGAGCCAGAGGTGCAGGCCATCGACCGGAGCTTGCTGGAATGTTCGGCCGAGGAGATTGCGGGGAAATGGCTGCAAGCAACTGACCTCACT
AGAGAAGTGTACCAGCATTTAGCCCACTATGTACCCAAAATCTACTGCAGGGGTCCCAACCCTTTTCCACAGAAAGAAGACATGCTGGCACAGCATGTTTTGTTG
GGACCAATGGAATGGTACCTTTGTGGTGAAGATCCTGCATTTGGATTTCCAAAACTTGAGCAAGCAAACAAACCTTCTCATCTTTGTGGTCGTGTTTTTAAAGTA
GGAGAGCCTACATATTCTTGCAGAGACTGTGCAGTTGATCCAACTTGTGTTTTGTGCATGGAGTGCTTTTTGGGAAGTATTCACAGAGATCATCGATATAGGATG
ACAACATCAGGAGGTGGAGGTTTCTGTGACTGTGGTGATACTGAAGCCTGGAAAGAGGGTCCTTACTGTCAAAAACATGAACTTAACACCTCTGAAATTGAGGAA
GAAGAGGATCCTCTTGTTCATTTATCAGAAGATGTGATAGCAAGAACTTATAACATTTTTGCTATTACGTTTCGGTATGCAGTAGAAATATTAACCTGGGAAAAA
GAAAGTGAATTGCCAGCAGATTTAGAGATGGTAGAGAAGAGTGACACCTACTATTGCATGCTGTTTAATGATGAGGTTCACACCTATGAACAAGTTATTTATACT
CTTCAGAAAGCTGTTAACTGTACACAAAAAGAAGCTATTGGTTTTGCAACTACAGTAGATCGAGATGGGCGTAGGTCTGTTCGATATGGAGATTTTCAGTATTGT
GAGCAAGCAAAATCAGTAATTGTGAGAAATACCAGTAGACAGACAAAGCCACTCAAAGTTCAAGTTATGCATTCGTCTATTGTCGCACATCAGAATTTTGGTTTG
AAACTTTTGTCTTGGCTGGGAAGTATTATTGGATATTCAGATGGCCTTCGCCGGATTTTATGTCAAGTTGGTTTACAAGAAGGGCCAGATGGTGAAAACTCTTCT
CTAGTGGACAGACTGATGCTTAGTGATTCCAAATTATGGAAAGGTGCTAGGAGTGTATATCATCAGTTGTTCATGAGCAGTCTGCTTATGGATTTGAAATACAAG
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>UBR2|23304|protein
MASELEPEVQAIDRSLLECSAEEIAGKWLQATDLTREVYQHLAHYVPKIYCRGPNPFPQKEDMLAQHVLLGPMEWYLCGEDPAFGFPKLEQANKPSHLCGRVFKV
GEPTYSCRDCAVDPTCVLCMECFLGSIHRDHRYRMTTSGGGGFCDCGDTEAWKEGPYCQKHELNTSEIEEEEDPLVHLSEDVIARTYNIFAITFRYAVEILTWEK
ESELPADLEMVEKSDTYYCMLFNDEVHTYEQVIYTLQKAVNCTQKEAIGFATTVDRDGRRSVRYGDFQYCEQAKSVIVRNTSRQTKPLKVQVMHSSIVAHQNFGL
KLLSWLGSIIGYSDGLRRILCQVGLQEGPDGENSSLVDRLMLSDSKLWKGARSVYHQLFMSSLLMDLKYKKLFAVRFAKNYERLQSDYVTDDHDREFSVADLSVQ
IFTVPSLFSISAGRSGSPL
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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) 3 (3) 1 (1) 0 (0) 0 (0) 33 (5)
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