AutismKB 2.0

Annotation Detail for HNF1B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HNF1B ( FJHN,HNF1beta,HNF2,HPC11,LF-B3,LFB3,MODY5,TCF2,VHNF1 )
Gene Full Name: HNF1 homeobox B
Band: 17q12
Quick LinksEntrez ID:6928; OMIM: 189907; Uniprot ID:HNF1B_HUMAN; ENSEMBL ID: ENSG00000108753; HGNC ID: 11630
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
75Phosphoserine (By similarity).
80Phosphoserine (By similarity).
Location(AA) Modifications Resource
75Phosphoserine (By similarity).Swiss-Prot 53.0
80Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
19O-linkedHMM predict
49Phosphoserine(ATM)HMM predict
49Phosphoserine(CDC2)HMM predict
49Phosphoserine(MAPK)HMM predict
52O-linkedHMM predict
52O-linkedHMM predict
52Phosphoserine(IKK)HMM predict
75Phosphoserine(PKG)HMM predict
86Phosphotyrosine(INSR)HMM predict
86Phosphotyrosine(EGFR)HMM predict
86Phosphotyrosine(Syk)HMM predict
146N-linkedHMM predict
151Phosphoserine(ATM)HMM predict
184N-linkedHMM predict
192N-linkedHMM predict
198Phosphoserine(ATM)HMM predict
210Phosphoserine(ATM)HMM predict
255N-linkedHMM predict
257Phosphoserine(PKC)HMM predict
279Phosphoserine(CDC2)HMM predict
321N-linkedHMM predict
327N-linkedHMM predict
340O-linkedHMM predict
342Phosphoserine(CDC2)HMM predict
342Phosphoserine(ATM)HMM predict
352Phosphotyrosine(Abl)HMM predict
362Phosphoserine(CK1)HMM predict
364O-linkedHMM predict
388Phosphoserine(MAPK)HMM predict
449N-linkedHMM predict
451O-linkedHMM predict
451Phosphoserine(IKK)HMM predict
451Phosphoserine(ATM)HMM predict
455Phosphoserine(ATM)HMM predict
513Phosphotyrosine(Abl)HMM predict
522Phosphotyrosine(SRC)HMM predict
525Phosphothreonine(PKC)HMM predict
535O-linkedHMM predict
539O-linkedHMM predict
544O-linkedHMM predict
545N-linkedHMM predict
552S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000458
  • Location:chr17 33120547-33179181
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
HIF1 HypoHepG2 33117433 33117915 482 2874
USF2 HepG2E 33117771 33118202 431 2561
hScc1 BcellGSE12603 33109468 33109706 238 10961
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 33135603 33135798 195 0
CTCF CD4SISSRdata 33135603 33135798 195 0
CTCF G2GSE9613 33135191 33136153 962 0
ER Fulvestrant-MCF7GSE14664 33125305 33125351 46 0
FOXA1 MCF7GSE15244 33150904 33151727 823 0
FoxA1 MCF7MACSdata 33151000 33151193 193 0
Myc hESGSE17917 33144521 33144879 358 0
Oct1 HelaGSE14283 33125305 33125349 44 0
P300 T0-glioblastomaGSE21026 33151173 33151853 680 0
RARG MCF7GSE15244 33151173 33151727 554 0
Rb shRbQuiescentGSE19898 33130898 33131126 228 0
TFAP2C MCF7GSE21234 33135334 33135888 554 0
TFAP2C MCF7GSE21234 33151226 33151544 318 0
hScc1 BcellGSE12603 33135191 33136068 877 0
hScc1 CdLSGSE12603 33135408 33136094 686 0
p63 keratinocytesGSE17611 33125644 33126823 1179 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