AutismKB 2.0

Annotation Detail for ENAH


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Basic Information Top
Gene Symbol:ENAH ( ENA,MENA,NDPP1 )
Gene Full Name: enabled homolog (Drosophila)
Band: 1q42.12
Quick LinksEntrez ID:55740; OMIM: 609061; Uniprot ID:ENAH_HUMAN; ENSEMBL ID: ENSG00000154380; HGNC ID: 18271
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
125Phosphoserine.
265Phosphoserine; by PKA (By similarity).
403KLKR.
405Phosphoserine.
410Phosphothreonine.
489Phosphothreonine.
502Phosphothreonine.
506Phosphoserine.
508Phosphoserine.
Location(AA) Modifications Resource
125Phosphoserine (By similarity).Swiss-Prot 53.0
265Phosphoserine (by PKA) (By similarity).Swiss-Prot 53.0
489Phosphothreonine.Swiss-Prot 53.0
508Phosphoserine.Swiss-Prot 53.0
508PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
5Phosphoserine(IKK)HMM predict
43N-linkedHMM predict
44N-linkedHMM predict
113Phosphoserine(ATM)HMM predict
125Phosphoserine(PKG)HMM predict
136Phosphoserine(ATM)HMM predict
265Phosphoserine(CK2)HMM predict
265O-linkedHMM predict
265Phosphoserine(PKG)HMM predict
265Phosphoserine(PKA)HMM predict
266Phosphoserine(PKG)HMM predict
272Phosphoserine(IKK)HMM predict
287Phosphoserine(CK1)HMM predict
295Phosphoserine(ATM)HMM predict
300Phosphothreonine(MAPK)HMM predict
300Phosphothreonine(CDK)HMM predict
302Phosphoserine(ATM)HMM predict
327Phosphoserine(IKK)HMM predict
327O-linkedHMM predict
344O-linkedHMM predict
405Phosphoserine(PKG)HMM predict
411Phosphoserine(IKK)HMM predict
425Phosphoserine(CK2)HMM predict
426Phosphoserine(CK1)HMM predict
481O-linkedHMM predict
481Phosphothreonine(PKC)HMM predict
482O-linkedHMM predict
486Phosphoserine(CK1)HMM predict
487O-linkedHMM predict
487O-linkedHMM predict
488Phosphoserine(CK1)HMM predict
488O-linkedHMM predict
488Phosphoserine(IKK)HMM predict
489PhosphothreonineHMM predict
489Phosphothreonine(CDC2)HMM predict
489Phosphothreonine(MAPK)HMM predict
489Phosphothreonine(CDK)HMM predict
489O-linkedHMM predict
493O-linkedHMM predict
504N-linkedHMM predict
508Phosphoserine(CDK)HMM predict
508Phosphoserine(CDC2)HMM predict
516Phosphoserine(CDC2)HMM predict
526N-linkedHMM predict
537Phosphoserine(IKK)HMM predict
541Phosphoserine(ATM)HMM predict
544O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001008493
  • Location:chr1 223741156-223907467
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 223907279 223907782 503 63
PAX3-FKHR Rh4GSE19063 223911792 223912745 953 4801
PHF8 Hs68minusFBSGSE20725 223907445 223908421 976 466
SRF HelaGSE8489 223911889 223912568 679 4761
hScc1 BcellGSE12603 223907310 223907997 687 186
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 223729131 223729903 772 11640
CTCF CD4GSE12889 223735329 223735559 230 5713
CTCF CD4SISSRdata 223729131 223729903 772 11640
CTCF CD4SISSRdata 223735329 223735559 230 5713
CTCF HelaGSE12889 223735236 223735554 318 5762
CTCF JurkatGSE12889 223729240 223729707 467 11683
CTCF G2GSE9613 223721755 223722085 330 19237
CTCF G2GSE9613 223728543 223728996 453 12387
CTCF G2GSE9613 223729367 223730031 664 11458
CTCF G2GSE9613 223732530 223732844 314 8470
CTCF G2GSE9613 223735594 223735981 387 5369
Oct4 hESGSE17917 223735342 223735547 205 5712
hScc1 BcellGSE12603 223721721 223722285 564 19154
hScc1 BcellGSE12603 223723205 223723545 340 17782
hScc1 BcellGSE12603 223728543 223728958 415 12406
hScc1 BcellGSE12603 223729367 223729906 539 11520
hScc1 CdLSGSE12603 223729367 223729807 440 11570
hScc1 G2GSE9613 223729367 223730031 664 11458
hScc1 G2GSE9613 223735594 223735981 387 5369
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 223762451 223763571 1120 0
CTCF G2GSE9613 223771995 223772300 305 0
FOXA1 MCF7GSE15244 223861760 223861964 204 0
Fos K562GSE19551 223762871 223763289 418 0
FoxA1 MCF7MACSdata 223762784 223763008 224 0
H3K4me3 colorectalcancer 223905749 223906309 560 0
H3ac HepG2E 223905681 223906411 730 0
Nanog hESGSE18292 223770278 223770629 351 0
Nanog hESGSE18292 223779956 223780504 548 0
P300 T0-glioblastomaGSE21026 223762488 223763590 1102 0
P300 T30-glioblastomaGSE21026 223762724 223763742 1018 0
TFAP2C MCF7GSE21234 223822076 223822428 352 0
USF1 HepG2E 223826511 223826829 318 0
p130 QuiescentGSE19898 223787731 223787949 218 0
p130 SenescentGSE19898 223896568 223896708 140 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


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