AutismKB 2.0

Annotation Detail for TTLL12


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Basic Information Top
Gene Symbol:TTLL12 ( FLJ41795,KIAA0153,dJ526I14.2 )
Gene Full Name: tubulin tyrosine ligase-like family, member 12
Band: 22q13.2
Quick LinksEntrez ID:23170; OMIM: NA; Uniprot ID:TTL12_HUMAN; ENSEMBL ID: ENSG00000100304; HGNC ID: 28974
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
15Phosphoserine.
16Phosphoserine.
20Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
15Phosphoserine(CK1)HMM predict
20Phosphothreonine(MAPK)HMM predict
20Phosphothreonine(CDC2)HMM predict
174N-linkedHMM predict
234Phosphothreonine(CK2)HMM predict
271Phosphothreonine(CDC2)HMM predict
317Phosphoserine(CK1)HMM predict
337N-linkedHMM predict
348Phosphoserine(PKG)HMM predict
508Phosphotyrosine(EGFR)HMM predict
508Phosphotyrosine(Syk)HMM predict
539Phosphotyrosine(EGFR)HMM predict
539SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015140
  • Location:chr22 41892572-41913050
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 41913428 41913743 315 535
CTCF CD4SISSRdata 41913428 41913743 315 535
CTCF G2GSE9613 41913447 41913752 305 549
ETS1 JurkatGSE17954 41913430 41914235 805 782
PHF8 293TGSE20725 41913558 41914304 746 881
PHF8 HeLaGSE20725 41913406 41914232 826 769
PHF8 Hs68plusFBSGSE20725 41913461 41914271 810 816
PolII HeLaGSE12783 41913427 41914306 879 816
hScc1 BcellGSE12603 41913447 41913752 305 549
p130 QuiescentGSE19898 41913581 41914069 488 775
p130 SenescentGSE19898 41913515 41913853 338 634
p130 shRbSenescentGSE19898 41913485 41914065 580 725
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41912663 41912975 312 0
Gata1 K562GSE18868 41909308 41909900 592 0
Gata2 K562GSE18868 41909308 41909963 655 0
H3ac HepG2E 41911595 41912215 620 0
Myc hESGSE17917 41912622 41913270 648 0
PHF8 293TGSE20725 41912426 41913177 751 0
PHF8 HeLaGSE20725 41912190 41913180 990 0
Rb QuiescentGSE19898 41911987 41912206 219 0
TFAP2C MCF7GSE21234 41897632 41897889 257 0
hScc1 BcellGSE12603 41894830 41895975 1145 0
hScc1 BcellGSE12603 41912397 41912975 578 0
hScc1 CdLSGSE12603 41912699 41912975 276 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