AutismKB 2.0

Evidence Details for UHRF1BP1


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Basic Information Top
Gene Symbol:UHRF1BP1 ( C6orf107,FLJ20302,ICBP90,dJ349A12.1 )
Gene Full Name: UHRF1 binding protein 1
Band: 6p21.31
Quick LinksEntrez ID:54887; OMIM: NA; Uniprot ID:URFB1_HUMAN; ENSEMBL ID: ENSG00000065060; HGNC ID: 21216
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UHRF1BP1|54887|nucleotide
ATGGCCGGGATCATTAAGAAGCAGATCCTGAAACACCTGTCCCGGTTCACTAAGAATCTTTCCCCAGACAAAATCAACCTGAGCACCCTGAAAGGGGAGGGTCAG
CTGACCAACCTGGAGCTGGATGAAGAGGTTCTACAGAATGTACTGGAGCTGCCCACCTGGTTAGCCATCACTCGGGTCTACTGCAACAGGGCCTCCATCCGGATC
CAGTGGACAAAGTTGAAGACACACCCTATTTGCTTGTGTCTGGATAAGGTAGAGGTGGAGATGAAGACATGTGAGGATCCTCGGCCCCCCAATGGACAGTCTCCC
ATTGCCCTTGCTTCAGGACAGAGTGAATATGGCTTTGCCGAAAAGGTGGTGGAAGGGATGTTCATCATTGTCAATTCTATCACCATCAAGATTCACTCCAAGGCC
TTCCACGCTTCTTTTGAATTGTGGCAGCTCCAGGGCTATAGTGTCAACCCCAACTGGCAGCAGAGTGACCTTCGCCTTACCCGCATCACTGACCCCTGCCGAGGA
GAGGTTTTAACATTTAAGGAAATAACTTGGCAAACACTCCGAATTGAGGCAGATGCTACAGACAATGGTGATCAGGACCCAGTCACCACTCCATTGAGGCTTATT
ACGAACCAAGGCAGGATCCAAATAGCCCTCAAAAGAAGAACCAAAGATTGCAATGTGATATCCTCCAAGCTGATGTTCCTGTTGGATGACCTGCTCTGGGTGCTG
ACTGACTCACAGCTCAAGGCTATGATGAAGTATGCAGAGTCACTGAGTGAAGCCATGGAGAAGTCAGCCCATCAAAGAAAGAGCCTGGCCCCTGAACCTGTGCAG
ATCACTCCACCAGCCCCCAGTGCCCAGCAGTCCTGGGCCCAGGCATTTGGTGGCAGCCAGGGCAACAGCAACAGCAGCAGCAGCCGCCTCAGCCAGTACTTTGAG
AAATTTGATGTGAAAGAGTCCTCCTACCATCTGCTCATCTCCCGCCTGGACCTGCACATTTGTGATGATAGCCAGTCCCGAGAGCCAGGTGTCTCTGCCAACAGA
CTCATGGGTGGTGCCATGCAGCTTACCTTCCGCAAGATGGCGTTTGACTATTACCCTTTCCATTGGGCAGGTGATAGCTGCAAACATTGGGTACGCCACTGTGAG
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>UHRF1BP1|54887|protein
MAGIIKKQILKHLSRFTKNLSPDKINLSTLKGEGQLTNLELDEEVLQNVLELPTWLAITRVYCNRASIRIQWTKLKTHPICLCLDKVEVEMKTCEDPRPPNGQSP
IALASGQSEYGFAEKVVEGMFIIVNSITIKIHSKAFHASFELWQLQGYSVNPNWQQSDLRLTRITDPCRGEVLTFKEITWQTLRIEADATDNGDQDPVTTPLRLI
TNQGRIQIALKRRTKDCNVISSKLMFLLDDLLWVLTDSQLKAMMKYAESLSEAMEKSAHQRKSLAPEPVQITPPAPSAQQSWAQAFGGSQGNSNSSSSRLSQYFE
KFDVKESSYHLLISRLDLHICDDSQSREPGVSANRLMGGAMQLTFRKMAFDYYPFHWAGDSCKHWVRHCEAMETRGQWAQKLVMEFQSKMEKWHEETGLKPPWHL
GVDSLFRRKADSLSSPRKNPLERSPSQGRQPAFQPPAWNRLRSSCMVVRVDDLDIHQVSTAGQPSKKPSTLLSCSRKLHNLPTQVSAIHIEFTEYYFPDNQELPV
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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 (3) 0 (0) 0 (0) 0 (0) 2 (4)
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