AutismKB 2.0

Annotation Detail for DBR1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DBR1 ( - )
Gene Full Name: debranching enzyme homolog 1 (S. cerevisiae)
Band: 3q22.3
Quick LinksEntrez ID:51163; OMIM: 607024; Uniprot ID:DBR1_HUMAN; ENSEMBL ID: ENSG00000138231; HGNC ID: 15594
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
128N6-acetyllysine.
474Phosphoserine.
478Phosphoserine.
479Phosphoserine.
499Phosphoserine (By similarity).
514Phosphoserine.
Location(AA) Modifications Resource
514Phosphoserine.Swiss-Prot 53.0
514PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
17Phosphotyrosine(Syk)HMM predict
37S-palmitoylHMM predict
132Phosphotyrosine(INSR)HMM predict
132Phosphotyrosine(Jak)HMM predict
143N-linkedHMM predict
202N-linkedHMM predict
203N-linkedHMM predict
207Phosphoserine(CDC2)HMM predict
245Phosphothreonine(PKC)HMM predict
297N-linkedHMM predict
355Phosphothreonine(PKC)HMM predict
405N-linkedHMM predict
407Phosphoserine(CK1)HMM predict
414Phosphotyrosine(Syk)HMM predict
418O-linkedHMM predict
439Phosphoserine(CK1)HMM predict
449Phosphothreonine(MAPK)HMM predict
451O-linkedHMM predict
455Phosphoserine(CK2)HMM predict
514Phosphoserine(CK1)HMM predict
529AsparagineHMM predict
533Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016216
  • Location:chr3 139362542-139376462
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 139382083 139382515 432 5837
Fos K562GSE19551 139382092 139382468 376 5818
Nanog hESGSE18292 139382169 139382450 281 5847
Oct1 HelaGSE14283 139377022 139377052 30 575
hScc1 BcellGSE12603 139382083 139382476 393 5817
hScc1 CdLSGSE12603 139382083 139382720 637 5939
hScc1 G2GSE9613 139382083 139382580 497 5869
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 139376115 139376502 387 0
ER Fulvestrant-MCF7GSE14664 139370832 139370873 41 0
FOXA1 MCF7GSE15244 139376187 139376502 315 0
H3K4me2 HCT116GSE10453 139375577 139376005 428 0
H3K4me3 colorectalcancer 139375577 139376502 925 0
H3ac HepG2E 139375577 139376502 925 0
Oct1 HelaGSE14283 139370838 139370884 46 0
P300 T30-glioblastomaGSE21026 139375942 139376861 919 0
PHF8 HeLaGSE20725 139375896 139376739 843 0
PHF8 Hs68plusFBSGSE20725 139375809 139376677 868 0
PolII HeLaGSE12783 139375672 139376788 1116 0
Rb GrowingGSE19898 139376382 139376537 155 0
Rb QuiescentGSE19898 139376182 139376512 330 0
Rb SenescentGSE19898 139375853 139376641 788 0
Rb shRbQuiescentGSE19898 139376226 139376475 249 0
Rb shRbSenescenceGSE19898 139376239 139376434 195 0
TAF HelaGSE8489 139375577 139375969 392 0
TAF k562GSE8489 139374938 139375261 323 0
TAF k562GSE8489 139375577 139376502 925 0
hScc1 BcellGSE12603 139376068 139376434 366 0
p130 QuiescentGSE19898 139375957 139376536 579 0
p130 SenescentGSE19898 139375623 139376704 1081 0
p130 shRbQuiescentGSE19898 139375876 139376680 804 0
p130 shRbSenescentGSE19898 139375875 139376621 746 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