AutismKB 2.0

Annotation Detail for GTPBP1


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Basic Information Top
Gene Symbol:GTPBP1 ( GP-1,GP1,HSPC018,MGC20069 )
Gene Full Name: GTP binding protein 1
Band: 22q13.1
Quick LinksEntrez ID:9567; OMIM: 602245; Uniprot ID:GTPB1_HUMAN; ENSEMBL ID: ENSG00000100226; HGNC ID: 4669
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
12Phosphoserine.
24Phosphoserine.
25Phosphoserine.
44Phosphoserine.
47Phosphoserine.
580Phosphoserine.
584Phosphoserine.
Location(AA) Modifications Resource
3Phosphoserine (By similarity).Swiss-Prot 53.0
16Phosphoserine (By similarity).Swiss-Prot 53.0
35Phosphoserine.Swiss-Prot 53.0
35PhosphoserinePhospho.ELM 6.0
38Phosphoserine.Swiss-Prot 53.0
38PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
15Phosphoserine(CK1)HMM predict
16Phosphoserine(CDC2)HMM predict
38Phosphoserine(CK2)HMM predict
60Phosphoserine(CDK)HMM predict
110Phosphothreonine(PKC)HMM predict
142MethyllysineHMM predict
201Phosphoserine(CAMK2)HMM predict
250Phosphotyrosine(Jak)HMM predict
250Phosphotyrosine(Jak)HMM predict
250Phosphotyrosine(Syk)HMM predict
322Phosphoserine(CDC2)HMM predict
358N-linkedHMM predict
363N-linkedHMM predict
395Phosphoserine(CK1)HMM predict
415N-linkedHMM predict
497Phosphoserine(MAPK)HMM predict
569N-linkedHMM predict
570N-linkedHMM predict
574N-linkedHMM predict
614O-linkedHMM predict
615O-linkedHMM predict
625Phosphoserine(IKK)HMM predict
648LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004286
  • Location:chr22 37431752-37459535
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 37430956 37432100 1144 225
H3ac HepG2E 37430548 37431276 728 841
Rb GrowingGSE19898 37431247 37431790 543 234
Rb QuiescentGSE19898 37431244 37431805 561 228
Rb SenescentGSE19898 37431183 37431920 737 201
Rb shRbQuiescentGSE19898 37431401 37431776 375 164
Rb shRbSenescenceGSE19898 37431217 37431758 541 265
TAF k562GSE8489 37430766 37431900 1134 420
p130 QuiescentGSE19898 37431153 37431800 647 276
p130 SenescentGSE19898 37431191 37431760 569 277
p130 shRbQuiescentGSE19898 37431263 37431788 525 227
p130 shRbSenescentGSE19898 37431140 37431864 724 251
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 37451035 37451268 233 0
CTCF CD4GSE12889 37459302 37459540 238 0
CTCF CD4SISSRdata 37451035 37451268 233 0
CTCF CD4SISSRdata 37459302 37459540 238 0
CTCF G2GSE9613 37432141 37432363 222 0
CTCF G2GSE9613 37450269 37450456 187 0
CTCF G2GSE9613 37458996 37459817 821 0
FOXA1 MCF7GSE15244 37433305 37433637 332 0
FoxA1 MCF7MACSdata 37433361 37433637 276 0
H3K4me3 colorectalcancer 37432621 37433458 837 0
H3ac HepG2E 37432429 37433529 1100 0
P300 T30-glioblastomaGSE21026 37443792 37445013 1221 0
PHF8 293TGSE20725 37431743 37432444 701 0
PHF8 Hs68plusFBSGSE20725 37431092 37433024 1932 0
RARA MCF7GSE15244 37432796 37433602 806 0
Rb QuiescentGSE19898 37432252 37432453 201 0
Rb shRbSenescenceGSE19898 37431793 37431952 159 0
TAF k562GSE8489 37432621 37434232 1611 0
hScc1 BcellGSE12603 37431870 37432398 528 0
hScc1 BcellGSE12603 37456309 37456778 469 0
hScc1 BcellGSE12603 37458996 37459702 706 0
hScc1 CdLSGSE12603 37431935 37432490 555 0
hScc1 CdLSGSE12603 37459212 37459853 641 0
p130 QuiescentGSE19898 37431827 37432084 257 0
p130 SenescentGSE19898 37432327 37433000 673 0
Validated miRNA targets Top
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