AutismKB 2.0

Annotation Detail for PIKFYVE


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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
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
7Phosphothreonine.
8Phosphoserine.
20Phosphoserine.
34Phosphothreonine.
46Phosphotyrosine.
73Phosphoserine.
76Phosphoserine.
88Phosphoserine.
219Phosphoserine.
223Phosphoserine.
299Phosphoserine.
307Phosphoserine.
318Phosphoserine.
323Phosphoserine.
329Phosphoserine.
352Phosphoserine.
449Phosphoserine.
452Phosphoserine.
454Phosphoserine.
457Phosphoserine.
475Phosphoserine.
477Phosphothreonine.
491Phosphoserine.
493Phosphoserine.
1155Phosphotyrosine.
1526Phosphoserine.
1544Phosphoserine.
1549Phosphoserine.
1714Phosphoserine.
1754Phosphoserine.
1772Phosphotyrosine.
Location(AA) Modifications Resource
46Phosphotyrosine.Swiss-Prot 53.0
46PhosphotyrosinePhospho.ELM 6.0
307Phosphoserine (By similarity).Swiss-Prot 53.0
307Phosphoserine (PKB
1155Phosphotyrosine.Swiss-Prot 53.0
1155PhosphotyrosinePhospho.ELM 6.0
1772Phosphotyrosine.Swiss-Prot 53.0
1772PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
20Phosphoserine(CDC2)HMM predict
20Phosphoserine(CDK)HMM predict
20Phosphoserine(IKK)HMM predict
23O-linkedHMM predict
23Phosphoserine(CDC2)HMM predict
23Phosphoserine(MAPK)HMM predict
23Phosphoserine(CDK)HMM predict
28Phosphothreonine(CDK)HMM predict
46Phosphotyrosine(EGFR)HMM predict
71Phosphoserine(ATM)HMM predict
73Phosphoserine(IKK)HMM predict
81O-linkedHMM predict
85Phosphoserine(PKA)HMM predict
85Phosphoserine(CAMK2)HMM predict
85Phosphoserine(IKK)HMM predict
88Phosphoserine(CDC2)HMM predict
90Phosphothreonine(MAPK)HMM predict
109Phosphothreonine(PKC)HMM predict
146Phosphoserine(ATM)HMM predict
188S-palmitoylHMM predict
191S-palmitoylHMM predict
192S-palmitoylHMM predict
228Phosphoserine(CK2)HMM predict
239O-linkedHMM predict
239Phosphoserine(IKK)HMM predict
253Phosphothreonine(CDC2)HMM predict
253Phosphothreonine(MAPK)HMM predict
253Phosphothreonine(CDK)HMM predict
261Phosphoserine(PKG)HMM predict
283O-linkedHMM predict
283Phosphothreonine(MAPK)HMM predict
283Phosphothreonine(CDK)HMM predict
291Phosphoserine(PKG)HMM predict
291Phosphoserine(CAMK2)HMM predict
299Phosphoserine(CDC2)HMM predict
303N-linkedHMM predict
316Phosphoserine(ATM)HMM predict
316Phosphoserine(IKK)HMM predict
318Phosphoserine(CDC2)HMM predict
329Phosphoserine(CDC2)HMM predict
333N-linkedHMM predict
336Phosphotyrosine(EGFR)HMM predict
449Phosphoserine(CDC2)HMM predict
449Phosphoserine(MAPK)HMM predict
449Phosphoserine(ATM)HMM predict
449Phosphoserine(IKK)HMM predict
454Phosphoserine(CK1)HMM predict
454Phosphoserine(IKK)HMM predict
457Phosphoserine(CK1)HMM predict
457PhosphoserineHMM predict
493Phosphoserine(CDC2)HMM predict
493Phosphoserine(CDK)HMM predict
499Phosphoserine(PKA)HMM predict
502O-linkedHMM predict
505Phosphoserine(IKK)HMM predict
506O-linkedHMM predict
511O-linkedHMM predict
628Phosphoserine(CK1)HMM predict
630Phosphoserine(CK1)HMM predict
647O-linkedHMM predict
647Phosphothreonine(PKC)HMM predict
847Phosphotyrosine(INSR)HMM predict
886N-linkedHMM predict
1026Phosphotyrosine(INSR)HMM predict
1033Phosphoserine(CK1)HMM predict
1033Phosphoserine(CK2)HMM predict
1135O-linkedHMM predict
1145Phosphoserine(ATM)HMM predict
1177Phosphoserine(IKK)HMM predict
1178Phosphoserine(CK1)HMM predict
1181Phosphoserine(CK1)HMM predict
1230O-linkedHMM predict
1230Phosphoserine(IKK)HMM predict
1476Phosphoserine(ATM)HMM predict
1479Phosphothreonine(CDK)HMM predict
1496Phosphoserine(PKA)HMM predict
1496Phosphoserine(IKK)HMM predict
1522Phosphoserine(PKA)HMM predict
1526Phosphoserine(CDC2)HMM predict
1526Phosphoserine(CDK)HMM predict
1567Phosphoserine(ATM)HMM predict
1570O-linkedHMM predict
1570Phosphoserine(IKK)HMM predict
1571O-linkedHMM predict
1572Phosphoserine(CK1)HMM predict
1573Phosphoserine(CK1)HMM predict
1580Phosphothreonine(MAPK)HMM predict
1589Phosphoserine(IKK)HMM predict
1601Phosphoserine(CK1)HMM predict
1616Phosphoserine(ATM)HMM predict
1623Phosphothreonine(PKC)HMM predict
1650Phosphotyrosine(Syk)HMM predict
1688Phosphoserine(CK1)HMM predict
1703N-linkedHMM predict
1708O-linkedHMM predict
1714Phosphoserine(CDC2)HMM predict
1714PhosphoserineHMM predict
1727N-linkedHMM predict
1737Phosphothreonine(PKC)HMM predict
1764Phosphothreonine(PKA)HMM predict
1772Phosphotyrosine(Syk)HMM predict
1814Phosphoserine(CK2)HMM predict
1841PhosphoserineHMM predict
1852Phosphoserine(CK1)HMM predict
1926N-linkedHMM predict
1927N-linkedHMM predict
2065Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015040
  • Location:chr2 208839235-208931718
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 208933329 208933910 581 1901
Fos K562GSE19551 208936499 208936848 349 4955
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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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


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