AutismKB 2.0

Evidence Details for PHRF1


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Basic Information Top
Gene Symbol:PHRF1 ( KIAA1542,RNF221 )
Gene Full Name: PHD and ring finger domains 1
Band: 11p15.5
Quick LinksEntrez ID:57661; OMIM: 611780; Uniprot ID:PHRF1_HUMAN; ENSEMBL ID: ENSG00000070047; HGNC ID: 24351
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PHRF1|57661|nucleotide
ATGGATGACGACAGCCTGGATGAGCTTGTGGCCCGGAGCCCAGGGCCGGATGGACACCCACAGGTCGGCCCTGCGGACCCGGCAGGTGACTTTGAAGAAAGCAGC
GTGGGCAGCAGTGGGGACTCTGGGGACGACAGTGACAGCGAGCATGGAGATGGCACAGACGGAGAAGACGAGGGGGCGTCTGAGGAGGAAGACCTGGAAGACAGA
TCTGGTTCCGAGGATTCTGAAGACGACGGGGAGACATTGCTGGAGGTAGCGGGTACTCAGGGGAAACTGGAAGCCGCTGGCTCTTTCAATTCTGATGATGATGCA
GAGAGCTGCCCAATCTGTCTCAACGCATTCAGAGACCAGGCCGTGGGGACGCCGGAGAACTGTGCCCATTACTTCTGCCTGGACTGCATTGTCGAATGGTCCAAG
AATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAAAGATCCCAGTGGAGAACACCAAA
GCGAGCGAGGAGGAGGAGGACCCGACCTTCTGTGAGGTGTGCGGCAGGAGCGACCGTGAGGACAGGCTTTTGCTCTGCGACGGCTGCGATGCGGGGTACCACATG
GAATGCTTGGACCCCCCTCTCCAGGAGGTGCCGGTGGACGAGTGGTTCTGCCCGGAATGTGCTGCGCCTGGTGTTGTCCTTGCCGCTGATGCGGGTCCCGTGAGT
GAGGAGGAGGTCTCCCTGCTCTTGGCTGATGTGGTGCCCACCACCAGCAGGCTTCGGCCTCGAGCAGGTAGGACCCGGGCGATAGCCAGGACACGGCAGAGTGAG
AGAGTGAGAGCAACCGTGAACCGGAACCGGATCTCCACGGCCAGGAGGGTCCAGCACACACCAGGGCGCCTCGGGTCTTCCCTGCTGGATGAAGCCATCGAGGCT
GTGGCGACTGGCCTGAGCACTGCCGTGTATCAGCGCCCCCTGACGCCGCGCACTCCCGCCCGACGGAAGAGGAAGACAAGAAGACGGAAGAAAGTGCCGGGAAGA
AAGAAAACCCCGTCCGGACCATCCGCAAAAAGTAAGAGCTCAGCGACAAGATCTAAGAAACGCCAACATCGAGTGAAGAAGAGAAGAGGGAAGAAGGTAAAGAGT
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>PHRF1|57661|protein
MDDDSLDELVARSPGPDGHPQVGPADPAGDFEESSVGSSGDSGDDSDSEHGDGTDGEDEGASEEEDLEDRSGSEDSEDDGETLLEVAGTQGKLEAAGSFNSDDDA
ESCPICLNAFRDQAVGTPENCAHYFCLDCIVEWSKNANSCPVDRTLFKCICIRAQFGGKILRKIPVENTKASEEEEDPTFCEVCGRSDREDRLLLCDGCDAGYHM
ECLDPPLQEVPVDEWFCPECAAPGVVLAADAGPVSEEEVSLLLADVVPTTSRLRPRAGRTRAIARTRQSERVRATVNRNRISTARRVQHTPGRLGSSLLDEAIEA
VATGLSTAVYQRPLTPRTPARRKRKTRRRKKVPGRKKTPSGPSAKSKSSATRSKKRQHRVKKRRGKKVKSEATTRSRIARTLGLRRPVHSSCIPSVLKPVEPSLG
LLRADIGAASLSLFGDPYELDPFDSEELSANPLSPLSAKRRALSRSALQSHQPVARPVSVGLSRRRLPAAVPEPDLEEEPVPDLLGSILSGQSLLMLGSSDVIIH
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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 (2) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top