AutismKB 2.0

Evidence Details for PIKFYVE


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PIKFYVE ( CFD,FAB1,FLJ37746,KIAA0981,MGC40423,PIP5K,PIP5K3 )
Gene Full Name: phosphoinositide kinase, FYVE finger containing
Band: 2q34
Quick LinksEntrez ID:200576; OMIM: 609414; Uniprot ID:FYV1_HUMAN; ENSEMBL ID: ENSG00000115020; HGNC ID: 23785
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PIKFYVE|200576|nucleotide
ATGGCCACAGATGATAAGACGTCCCCAACACTGGACTCTGCTAATGATTTGCCTCGATCTCCTACTAGTCCTTCTCATCTCACACACTTTAAACCTTTGACTCCT
GATCAAGATGAGCCCCCTTTTAAATCAGCTTATAGTTCTTTTGTAAATCTCTTTCGTTTTAACAAAGAGAGAGCAGAAGGAGGCCAGGGAGAACAGCAGCCTTTG
AGTGGAAGTTGGACCAGCCCTCAGCTCCCTTCGAGGACACAGTCTGTTAGGTCACCCACACCTTATAAAAAGCAGCTTAATGAGGAACTCCAGCGGCGCTCTTCA
GCATTAGACACAAGAAGGAAAGCAGAACCTACCTTTGGAGGTCATGACCCTCGTACAGCTGTTCAGCTTCGAAGCCTCAGCACAGTATTAAAACGCCTCAAGGAA
ATCATGGAGGGGAAAAGCCAGGATAGTGACCTGAAACAATACTGGATGCCAGATAGCCAATGTAAAGAGTGCTATGACTGTAGTGAGAAATTTACAACCTTTAGG
CGCAGACACCATTGCCGACTATGTGGGCAGATTTTCTGCAGTCGTTGCTGTAATCAAGAAATCCCTGGAAAATTTATGGGCTATACAGGAGACCTCCGAGCTTGC
ACATATTGTAGAAAAATAGCCTTAAGTTATGCTCATTCCACAGACAGTAATTCTATTGGGGAAGACTTGAATGCTCTTTCAGATTCTGCTTGCTCTGTGTCTGTG
CTTGATCCAAGTGAACCCCGAACACCTGTTGGGAGTAGGAAAGCCAGCCGTAACATATTTTTAGAGGATGATTTGGCCTGGCAAAGTTTGATTCATCCAGATTCC
TCAAATACTCCTCTTTCAACAAGACTTGTATCTGTGCAAGAGGATGCTGGGAAATCTCCTGCTCGAAATAGATCAGCCAGCATTACTAACCTGTCACTGGATAGA
TCTGGTTCTCCTATGGTACCTTCATATGAGACATCTGTCAGTCCCCAGGCTAACCGAACATATGTTAGGACAGAGACCACTGAGGATGAACGCAAAATTCTTCTG
GACAGTGTGCAGTTAAAAGACCTGTGGAAAAAAATCTGCCATCACAGCAGTGGAATGGAGTTTCAGGATCACCGCTACTGGTTGAGAACGCATCCCAACTGCATT
Show »

>PIKFYVE|200576|protein
MATDDKTSPTLDSANDLPRSPTSPSHLTHFKPLTPDQDEPPFKSAYSSFVNLFRFNKERAEGGQGEQQPLSGSWTSPQLPSRTQSVRSPTPYKKQLNEELQRRSS
ALDTRRKAEPTFGGHDPRTAVQLRSLSTVLKRLKEIMEGKSQDSDLKQYWMPDSQCKECYDCSEKFTTFRRRHHCRLCGQIFCSRCCNQEIPGKFMGYTGDLRAC
TYCRKIALSYAHSTDSNSIGEDLNALSDSACSVSVLDPSEPRTPVGSRKASRNIFLEDDLAWQSLIHPDSSNTPLSTRLVSVQEDAGKSPARNRSASITNLSLDR
SGSPMVPSYETSVSPQANRTYVRTETTEDERKILLDSVQLKDLWKKICHHSSGMEFQDHRYWLRTHPNCIVGKELVNWLIRNGHIATRAQAIAIGQAMVDGRWLD
CVSHHDQLFRDEYALYRPLQSTEFSETPSPDSDSVNSVEGHSEPSWFKDIKFDDSDTEQIAEEGDDNLANSASPSKRTSVSSFQSTVDSDSAASISLNVELDNVN
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (2) 0 (0) 0 (0) 0 (0) 10 (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
Pescucci, 2003 - STS mappingautism - - - - 1 - 1
Cusco, 2008 Spanish aCGHASD - - - - 96 100 196
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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