AutismKB 2.0

Annotation Detail for GFPT2


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Basic Information Top
Gene Symbol:GFPT2 ( FLJ10380,GFAT2 )
Gene Full Name: glutamine-fructose-6-phosphate transaminase 2
Band: 5q35.3
Quick LinksEntrez ID:9945; OMIM: 603865; Uniprot ID:GFPT2_HUMAN; ENSEMBL ID: ENSG00000131459; HGNC ID: 4242
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
245Phosphoserine.
Location(AA) Modifications Resource
201Phosphoserine (PKA
244PhosphoserinePhospho.ELM 6.0
245Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
71Phosphotyrosine(Syk)HMM predict
138Phosphotyrosine(Syk)HMM predict
138Phosphotyrosine(INSR)HMM predict
187MethyllysineHMM predict
198Phosphothreonine(PKC)HMM predict
298Phosphoserine(PKG)HMM predict
300Phosphoserine(CK2)HMM predict
300Phosphoserine(PKB)HMM predict
375S-palmitoylHMM predict
450O-linkedHMM predict
481Phosphoserine(ATM)HMM predict
523Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005110
  • Location:chr5 179660305-179712920
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 179712481 179713814 1333 227
CTCF G2GSE9613 179714382 179714893 511 1717
CTCF G2GSE9613 179715797 179716912 1115 3434
CTCF G2GSE9613 179722379 179722993 614 9766
CTCF G2GSE9613 179725964 179726212 248 13168
CTCF G2GSE9613 179727417 179728154 737 14865
CTCF G2GSE9613 179730099 179730508 409 17383
CTCF G2GSE9613 179730948 179731182 234 18145
Fos K562GSE19551 179712827 179713327 500 157
H3K27me3 colorectalcancer 179713814 179714893 1079 1433
Rb SenescentGSE19898 179713123 179713450 327 366
hScc1 BcellGSE12603 179713361 179713698 337 609
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 179650661 179651498 837 9226
CTCF G2GSE9613 179652737 179653512 775 7181
CTCF G2GSE9613 179659465 179659749 284 699
Fos K562GSE19551 179651567 179652110 543 8467
PHF8 HeLaGSE20725 179650679 179652461 1782 8736
Rb SenescentGSE19898 179653034 179653325 291 7126
TAF HelaGSE8489 179653255 179653512 257 6922
VDR GM10861-UnstimGSE22484 179651447 179653565 2118 7800
VDR GM10861-stimGSE22484 179652743 179653899 1156 6985
hScc1 BcellGSE12603 179653018 179653512 494 7041
hScc1 CdLSGSE12603 179652737 179653512 775 7181
hScc1 G2GSE9613 179650627 179651498 871 9243
hScc1 G2GSE9613 179652737 179653512 775 7181
p130 QuiescentGSE19898 179653102 179653260 158 7125
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 179675334 179675722 388 0
CTCF CD4GSE12889 179688239 179688579 340 0
CTCF CD4SISSRdata 179675334 179675722 388 0
CTCF CD4SISSRdata 179688239 179688579 340 0
CTCF HelaGSE12889 179675373 179675606 233 0
CTCF JurkatGSE12889 179688333 179688555 222 0
CTCF G2GSE9613 179664500 179664883 383 0
CTCF G2GSE9613 179671400 179671608 208 0
CTCF G2GSE9613 179673308 179673738 430 0
CTCF G2GSE9613 179675193 179676249 1056 0
CTCF G2GSE9613 179678126 179678670 544 0
CTCF G2GSE9613 179684660 179684849 189 0
CTCF G2GSE9613 179688093 179688921 828 0
CTCF G2GSE9613 179689939 179690148 209 0
CTCF G2GSE9613 179694535 179694947 412 0
CTCF G2GSE9613 179695604 179695928 324 0
CTCF G2GSE9613 179696377 179696557 180 0
CTCF G2GSE9613 179704269 179704442 173 0
CTCF G2GSE9613 179705549 179706247 698 0
CTCF G2GSE9613 179709562 179710551 989 0
CTCF G2GSE9613 179711284 179712155 871 0
Nanog hESGSE18292 179703169 179703620 451 0
Oct4 hESGSE17917 179691687 179692113 426 0
Oct4 hESGSE21916 179691173 179692065 892 0
Sox2 hESGSE18292 179703195 179703601 406 0
TAF HelaGSE8489 179690148 179690495 347 0
USF1 HepG2E 179663087 179663317 230 0
hScc1 BcellGSE12603 179673308 179673738 430 0
hScc1 BcellGSE12603 179675442 179675997 555 0
hScc1 BcellGSE12603 179688204 179688819 615 0
hScc1 BcellGSE12603 179711875 179712895 1020 0
hScc1 CdLSGSE12603 179675341 179676249 908 0
hScc1 G2GSE9613 179673308 179673670 362 0
p130 SGSE7516 179710985 179711249 264 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-378 hsa-mir-378 5 20353610
hsa-miR-378* hsa-mir-378 5 20353610
No data
Cis-Nats regulation Top

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


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