AutismKB 2.0

Evidence Details for PHF16


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Basic Information Top
Gene Symbol:PHF16 ( JADE3,KIAA0215,MGC138748,MGC138749 )
Gene Full Name: PHD finger protein 16
Band: Xp11.23
Quick LinksEntrez ID:9767; OMIM: 300618; Uniprot ID:JADE3_HUMAN; ENSEMBL ID: ENSG00000102221; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PHF16|9767|nucleotide
ATGAAACGCCATAGGCCTGTCAGCAGCAGTGACAGTTCAGACGAAAGTCCTTCCACTTCCTTTACTTCTGGCTCAATGTATAGGATCAAGTCAAAAATTCCAAAT
GAACACAAGAAACCTGCTGAGGTATTCCGGAAGGACCTCATCAGTGCCATGAAACTTCCAGATTCTCACCACATTAATCCTGATAGCTATTACCTCTTTGCTGAT
ACATGGAAGGAAGAATGGGAAAAGGGAGTCCAGGTACCAGCCAGTCCAGACACCGTTCCACAGCCTTCTCTCAGGATTATAGCTGAGAAGGTAAAGGACGTTCTG
TTTATCCGACCCCGGAAGTATATTCACTGCTCCAGCCCAGACACCACAGAGCCTGGCTACATCAACATCATGGAGTTGGCAGCATCTGTTTGCCGCTATGACCTA
GATGACATGGACATCTTCTGGCTTCAGGAACTCAATGAAGACCTTGCAGAAATGGGTTGTGGGCCAGTTGATGAGAATCTTATGGAAAAGACAGTAGAAGTCCTG
GAACGCCATTGCCATGAAAATATGAACCATGCTATTGAGACAGAGGAAGGGCTAGGCATAGAGTATGATGAAGATGTGATCTGTGATGTGTGCCGGTCTCCAGAC
AGTGAAGAAGGGAATGATATGGTGTTCTGTGATAAGTGTAACGTCTGTGTGCATCAGGCCTGCTATGGCATCCTCAAGGTCCCAGAAGGCAGCTGGCTGTGTCGC
TCCTGTGTCCTGGGCATTTATCCGCAATGTGTGTTATGTCCAAAGAAAGGTGGAGCCCTGAAGACCACCAAGACAGGGACTAAATGGGCTCATGTCAGCTGTGCC
CTGTGGATCCCAGAGGTCAGCATTGCTTGTCCTGAGAGGATGGAACCGATCACGAAGATCTCCCACATCCCACCCAGTCGGTGGGCCTTAGTCTGCAACTTGTGC
AAGTTGAAGACGGGGGCTTGTATTCAGTGCTCTATAAAAAGCTGCATCACTGCCTTCCACGTCACCTGTGCCTTTGAGCACGGCCTAGAGATGAAGACCATCCTA
GATGAGGGAGACGAAGTGAAGTTCAAGTCATATTGCCTCAAGCATAGCCAAAACAGGCAGAAACTTGGAGAAGCTGAGTACCCCCACCACAGGGCTAAAGAGCAG
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>PHF16|9767|protein
MKRHRPVSSSDSSDESPSTSFTSGSMYRIKSKIPNEHKKPAEVFRKDLISAMKLPDSHHINPDSYYLFADTWKEEWEKGVQVPASPDTVPQPSLRIIAEKVKDVL
FIRPRKYIHCSSPDTTEPGYINIMELAASVCRYDLDDMDIFWLQELNEDLAEMGCGPVDENLMEKTVEVLERHCHENMNHAIETEEGLGIEYDEDVICDVCRSPD
SEEGNDMVFCDKCNVCVHQACYGILKVPEGSWLCRSCVLGIYPQCVLCPKKGGALKTTKTGTKWAHVSCALWIPEVSIACPERMEPITKISHIPPSRWALVCNLC
KLKTGACIQCSIKSCITAFHVTCAFEHGLEMKTILDEGDEVKFKSYCLKHSQNRQKLGEAEYPHHRAKEQSQAKSEKTSLRAQKLRELEEEFYSLVRVEDVAAEL
GMPTLAVDFIYNYWKLKRKSNFNKPLFPPKEDEENGLVQPKEESIHTRMRMFMHLRQDLERVRNLCYMISRREKLKLSHNKIQEQIFGLQVQLLNQEIDAGLPLT
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
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
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top