AutismKB 2.0

Evidence Details for PHF8


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Basic Information Top
Gene Symbol:PHF8 ( DKFZp686E0868,JHDM1F,KIAA1111,MRXSSD,ZNF422 )
Gene Full Name: PHD finger protein 8
Band: Xp11.22
Quick LinksEntrez ID:23133; OMIM: 300560; Uniprot ID:PHF8_HUMAN; ENSEMBL ID: ENSG00000172943; HGNC ID: 20672
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PHF8|23133|nucleotide
ATGAACAGGAGCCGCGCTATCGTCCAGAGAGGACGCGTGCTGCCGCCTCCCGCCCCTCTTGACACGACGAACCTGGCCGGCCGCAGAACGCTCCAGGGCCGAGCG
AAGATGGCCTCGGTGCCGGTGTATTGCCTCTGCCGGCTGCCTTACGATGTGACCCGCTTCATGATCGAGTGTGACATGTGCCAGGACTGGTTTCATGGCAGTTGT
GTTGGTGTTGAAGAGGAGAAGGCTGCTGACATTGACCTCTACCACTGCCCCAACTGTGAAGTCTTGCATGGGCCCTCCATTATGAAAAAACGCCGTGGATCTTCA
AAGGGGCATGATACACACAAGGGGAAACCAGTGAAGACCGGGAGCCCTACGTTCGTCAGAGAGCTCCGGAGTAGGACTTTTGACAGCTCAGATGAAGTGATTCTG
AAGCCCACTGGAAATCAACTGACCGTGGAATTCCTGGAAGAAAATAGCTTCAGTGTGCCCATCCTGGTCCTGAAGAAGGATGGGTTGGGCATGACGCTGCCCTCG
CCATCATTCACTGTGAGGGATGTTGAACACTATGTTGGTTCTGACAAAGAGATTGATGTGATTGATGTGACCCGCCAGGCTGACTGCAAGATGAAGCTTGGTGAT
TTTGTGAAATACTATTACAGCGGGAAGAGGGAGAAAGTCCTCAATGTCATTAGTTTGGAATTCTCTGATACCAGACTTTCTAACCTTGTGGAGACACCGAAGATT
GTTCGAAAGCTGTCATGGGTCGAAAACTTGTGGCCAGAGGAATGTGTCTTTGAGAGACCCAATGTACAGAAGTACTGCCTCATGAGTGTGCGAGATAGCTATACA
GACTTTCACATTGACTTTGGTGGCACCTCTGTCTGGTACCATGTACTCAAGGGTGAAAAGATCTTCTACCTGATCCGCCCAACAAATGCCAATCTGACTCTCTTT
GAGTGCTGGAGCAGTTCCTCTAATCAGAATGAGATGTTCTTTGGGGACCAGGTGGACAAGTGCTACAAGTGTTCCGTGAAGCAAGGACAGACACTTTTCATTCCC
ACAGGGTGGATCCATGCTGTGCTGACGCCTGTGGACTGCCTTGCCTTTGGAGGGAACTTCTTACACAGCCTTAACATCGAGATGCAGCTCAAAGCCTATGAGATT
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>PHF8|23133|protein
MNRSRAIVQRGRVLPPPAPLDTTNLAGRRTLQGRAKMASVPVYCLCRLPYDVTRFMIECDMCQDWFHGSCVGVEEEKAADIDLYHCPNCEVLHGPSIMKKRRGSS
KGHDTHKGKPVKTGSPTFVRELRSRTFDSSDEVILKPTGNQLTVEFLEENSFSVPILVLKKDGLGMTLPSPSFTVRDVEHYVGSDKEIDVIDVTRQADCKMKLGD
FVKYYYSGKREKVLNVISLEFSDTRLSNLVETPKIVRKLSWVENLWPEECVFERPNVQKYCLMSVRDSYTDFHIDFGGTSVWYHVLKGEKIFYLIRPTNANLTLF
ECWSSSSNQNEMFFGDQVDKCYKCSVKQGQTLFIPTGWIHAVLTPVDCLAFGGNFLHSLNIEMQLKAYEIEKRLSTADLFRFPNFETICWYVGKHILDIFRGLRE
NRRHPASYLVHGGKALNLAFRAWTRKEALPDHEDEIPETVRTVQLIKDLAREIRLVEDIFQQNVGKTSNIFGLQRIFPAGSIPLTRPAHSTSVSMSRLSLPSKNG
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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) Yes 0 (0) 1 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMMental retardation syndrome, X-linked, Siderius type (300263)
DescriptionSiderius-Hamel syndrome (ID with cleft lip or cleft palate)
Reference(s)18498374;
LevelLevel 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed.
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
Qiao, 2008 USA, Canada aCGHASD - - - - 402 186 588
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
De Wolf V, 2014 - aCGH--syndromic autism - - - - 1 - 1
Linkage Studies Top