AutismKB 2.0

Evidence Details for PHIP


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Basic Information Top
Gene Symbol:PHIP ( DCAF14,FLJ20705,FLJ45918,MGC90216,WDR11,ndrp )
Gene Full Name: pleckstrin homology domain interacting protein
Band: 6q14.1
Quick LinksEntrez ID:55023; OMIM: 612870; Uniprot ID:PHIP_HUMAN; ENSEMBL ID: ENSG00000146247; HGNC ID: 15673
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PHIP|55023|nucleotide
ATGTCTTGTGAGAGGAAAGGCCTCTCGGAGCTGCGATCGGAGCTCTACTTCCTCATCGCCCGGTTCCTGGAAGATGGACCCTGTCAGCAGGCGGCTCAGGTGCTG
ATCCGCGAGGTGGCCGAGAAGGAGCTGCTGCCCCGGCGCACCGACTGGACCGGGAAGGAGCATCCCAGGACCTACCAGAATCTGGTGAAGTATTACAGACACTTA
GCACCTGATCACTTGCTGCAAATATGTCATCGACTAGGACCTCTTCTTGAACAAGAAATTCCTCAAAGTGTTCCTGGAGTACAAACTTTATTAGGAGCTGGAAGA
CAGTCTTTACTACGCACAAATAAAAGCTGCAAGCATGTTGTGTGGAAAGGATCTGCTCTGGCTGCGTTGCACTGTGGAAGACCACCTGAGTCACCAGTTAACTAT
GGTAGCCCACCCAGCATTGCGGATACTCTGTTTTCAAGGAAGCTGAATGGGAAATACAGACTTGAGCGACTTGTTCCAACTGCAGTGTATCAGCACATGAAAATG
CATAAACGAATTCTTGGACACTTGTCATCTGTGTACTGTGTAACTTTTGATCGAACTGGCAGACGGATATTTACTGGTTCTGATGACTGTCTTGTGAAAATATGG
GCAACAGATGATGGGAGGTTGTTAGCTACCTTAAGAGGACATGCTGCTGAAATATCAGACATGGCTGTAAACTATGAGAATACCATGATAGCAGCTGGAAGTTGT
GATAAAATGATCCGAGTCTGGTGTCTTCGAACCTGTGCACCTTTGGCTGTTCTTCAGGGCCATAGTGCATCTATTACATCACTACAGTTCTCACCATTGTGCAGT
GGCTCAAAGAGATATCTATCTTCTACTGGGGCAGATGGCACTATTTGTTTTTGGCTCTGGGATGCTGGAACCCTTAAAATAAACCCAAGACCTGCAAAATTTACA
GAGCGCCCTCGGCCTGGAGTTCAAATGATCTGTTCTTCTTTTAGTGCTGGTGGAATGTTTCTGGCGACGGGAAGCACAGATCATATTATTCGGGTTTATTTTTTT
GGATCAGGTCAGCCAGAGAAAATATCAGAATTGGAGTTTCATACTGACAAAGTTGACAGTATCCAGTTTTCCAACACTAGTAACAGGTTTGTAAGTGGCAGTCGT
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>PHIP|55023|protein
MSCERKGLSELRSELYFLIARFLEDGPCQQAAQVLIREVAEKELLPRRTDWTGKEHPRTYQNLVKYYRHLAPDHLLQICHRLGPLLEQEIPQSVPGVQTLLGAGR
QSLLRTNKSCKHVVWKGSALAALHCGRPPESPVNYGSPPSIADTLFSRKLNGKYRLERLVPTAVYQHMKMHKRILGHLSSVYCVTFDRTGRRIFTGSDDCLVKIW
ATDDGRLLATLRGHAAEISDMAVNYENTMIAAGSCDKMIRVWCLRTCAPLAVLQGHSASITSLQFSPLCSGSKRYLSSTGADGTICFWLWDAGTLKINPRPAKFT
ERPRPGVQMICSSFSAGGMFLATGSTDHIIRVYFFGSGQPEKISELEFHTDKVDSIQFSNTSNRFVSGSRDGTARIWQFKRREWKSILLDMATRPAGQNLQGIED
KITKMKVTMVAWDRHDNTVITAVNNMTLKVWNSYTGQLIHVLMGHEDEVFVLEPHPFDPRVLFSAGHDGNVIVWDLARGVKIRSYFNMIEGQGHGAVFDCKCSPD
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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 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Wang T, 2016 1543 1045 54 De novo genic mutations among a Chinese autism spectrum disorder cohort
Stessman HA, 2017 6342 - 74 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Wang T, 2016 China Illumina HiSeq 2000ASD 1045 - - 1543 PCR and Sanger sequencing
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018