AutismKB 2.0

Annotation Detail for GGT5


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Basic Information Top
Gene Symbol:GGT5 ( DKFZp566O011,FLJ92733,GGT-REL,GGTLA1 )
Gene Full Name: gamma-glutamyltransferase 5
Band: 22q11.23
Quick LinksEntrez ID:2687; OMIM: 137168; Uniprot ID:GGT5_HUMAN; ENSEMBL ID: ENSG00000099998; HGNC ID: 4260
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
98N-linked (GlcNAc...) (Potential).
204N-linked (GlcNAc...) (Potential).
303N-linked (GlcNAc...) (Potential).
347N-linked (GlcNAc...) (Potential).
535N-linked (GlcNAc...) (Potential).
550N-linked (GlcNAc...).
Location(AA) Modifications Resource
98N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
204N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
303N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
347N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
535N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
550N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
50O-linkedHMM predict
98N-linkedHMM predict
112Phosphothreonine(PKC)HMM predict
120Phosphoserine(CK1)HMM predict
204N-linkedHMM predict
226O-linkedHMM predict
282O-linkedHMM predict
404O-linkedHMM predict
439O-linkedHMM predict
442O-linkedHMM predict
442Phosphothreonine(CDC2)HMM predict
442Phosphothreonine(MAPK)HMM predict
444O-linkedHMM predict
444Phosphoserine(CDC2)HMM predict
447O-linkedHMM predict
467Phosphoserine(CDC2)HMM predict
467Phosphoserine(IKK)HMM predict
469O-linkedHMM predict
470Phosphoserine(MAPK)HMM predict
470Phosphoserine(IKK)HMM predict
537Phosphoserine(CK1)HMM predict
537Phosphoserine(ATM)HMM predict
550N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004121
  • Location:chr22 22945638-22971027
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 22973624 22973826 202 2698
CTCF CD4SISSRdata 22973624 22973826 202 2698
CTCF G2GSE9613 22973365 22974240 875 2775
Oct4 hESGSE17917 22973664 22974033 369 2821
STAT1 IFNSISSRdata 22973493 22973938 445 2688
TFAP2C MCF7GSE21234 22973167 22973846 679 2479
hScc1 BcellGSE12603 22972477 22974454 1977 2438
hScc1 BcellGSE12603 22977257 22978012 755 6607
hScc1 BcellGSE12603 22982982 22983758 776 12343
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 22933351 22934731 1380 11598
ER MCF7GSE19013 22932801 22933318 517 12579
FoxA1 MCF7MACSdata 22934046 22934301 255 11465
P300 T0-glioblastomaGSE21026 22933759 22934658 899 11430
P300 T30-glioblastomaGSE21026 22932605 22934755 2150 11959
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 22957234 22957494 260 0
CTCF CD4GSE12889 22968870 22968988 118 0
CTCF CD4SISSRdata 22957234 22957494 260 0
CTCF CD4SISSRdata 22968870 22968988 118 0
CTCF G2GSE9613 22969514 22970140 626 0
CTCF G2GSE9613 22970554 22971164 610 0
RARA MCF7GSE15244 22970689 22971164 475 0
hScc1 BcellGSE12603 22956933 22957201 268 0
hScc1 BcellGSE12603 22957750 22957997 247 0
p130 SenescentGSE19898 22968784 22969109 325 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