AutismKB 2.0

Evidence Details for UHRF1


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Basic Information Top
Gene Symbol:UHRF1 ( FLJ21925,ICBP90,MGC138707,Np95,RNF106,hNP95 )
Gene Full Name: ubiquitin-like with PHD and ring finger domains 1
Band: 19p13.3
Quick LinksEntrez ID:29128; OMIM: 607990; Uniprot ID:UHRF1_HUMAN; ENSEMBL ID: ENSG00000034063; HGNC ID: 12556
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UHRF1|29128|nucleotide
ATGTGGATCCAGGTTCGGACCATGGACGGGAGGCAGACCCACACGGTGGACTCGCTGTCCAGGCTGACCAAGGTGGAGGAGCTGAGGCGGAAGATCCAGGAGCTG
TTCCACGTGGAGCCAGGCCTGCAGAGGCTGTTCTACAGGGGCAAACAGATGGAGGACGGCCATACCCTCTTCGACTACGAGGTCCGCCTGAATGACACCATCCAG
CTCCTGGTCCGCCAGAGCCTCGTGCTCCCCCACAGCACCAAGGAGCGGGACTCCGAGCTCTCCGACACCGACTCCGGCTGCTGCCTGGGCCAGAGTGAGTCAGAC
AAGTCCTCCACCCACGGTGAGGCGGCCGCCGAGACTGACAGCAGGCCAGCCGATGAGGACATGTGGGATGAGACGGAATTGGGGCTGTACAAGGTCAATGAGTAC
GTCGATGCTCGGGACACGAACATGGGGGCGTGGTTTGAGGCGCAGGTGGTCAGGGTGACGCGGAAGGCCCCCTCCCGGGACGAGCCCTGCAGCTCCACGTCCAGG
CCGGCGCTGGAGGAGGACGTCATTTACCACGTGAAATACGACGACTACCCGGAGAACGGCGTGGTCCAGATGAACTCCAGGGACGTCCGAGCGCGCGCCCGCACC
ATCATCAAGTGGCAGGACCTGGAGGTGGGCCAGGTGGTCATGCTCAACTACAACCCCGACAACCCCAAGGAGCGGGGCTTCTGGTACGACGCGGAGATCTCCAGG
AAGCGCGAGACCAGGACGGCGCGGGAACTCTACGCCAACGTGGTGCTGGGGGATGATTCTCTGAACGACTGTCGGATCATCTTCGTGGACGAAGTCTTCAAGATT
GAGCGGCCGGGTGAAGGGAGCCCCATGGTTGACAACCCCATGAGACGGAAGAGCGGGCCGTCCTGCAAGCACTGCAAGGACGACGTGAACAGACTCTGCCGGGTC
TGCGCCTGCCACCTGTGCGGGGGCCGGCAGGACCCCGACAAGCAGCTCATGTGCGATGAGTGCGACATGGCCTTCCACATCTACTGCCTGGACCCGCCCCTCAGC
AGTGTTCCCAGCGAGGACGAGTGGTACTGCCCTGAGTGCCGGAATGATGCCAGCGAGGTGGTACTGGCGGGAGAGCGGCTGAGAGAGAGCAAGAAGAAGGCGAAG
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>UHRF1|29128|protein
MWIQVRTMDGRQTHTVDSLSRLTKVEELRRKIQELFHVEPGLQRLFYRGKQMEDGHTLFDYEVRLNDTIQLLVRQSLVLPHSTKERDSELSDTDSGCCLGQSESD
KSSTHGEAAAETDSRPADEDMWDETELGLYKVNEYVDARDTNMGAWFEAQVVRVTRKAPSRDEPCSSTSRPALEEDVIYHVKYDDYPENGVVQMNSRDVRARART
IIKWQDLEVGQVVMLNYNPDNPKERGFWYDAEISRKRETRTARELYANVVLGDDSLNDCRIIFVDEVFKIERPGEGSPMVDNPMRRKSGPSCKHCKDDVNRLCRV
CACHLCGGRQDPDKQLMCDECDMAFHIYCLDPPLSSVPSEDEWYCPECRNDASEVVLAGERLRESKKKAKMASATSSSQRDWGKGMACVGRTKECTIVPSNHYGP
IPGIPVGTMWRFRVQVSESGVHRPHVAGIHGRSNDGAYSLVLAGGYEDDVDHGNFFTYTGSGGRDLSGNKRTAEQSCDQKLTNTNRALALNCFAPINDQEGAEAK
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top