AutismKB 2.0

Annotation Detail for NGEF


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Basic Information Top
Gene Symbol:NGEF ( ARHGEF27,EPHEXIN )
Gene Full Name: neuronal guanine nucleotide exchange factor
Band: 2q37.1
Quick LinksEntrez ID:25791; OMIM: 605991; Uniprot ID:NGEF_HUMAN; ENSEMBL ID: ENSG00000066248; HGNC ID: 7807
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
179Phosphotyrosine (By similarity).
606Phosphoserine (By similarity).
Location(AA) Modifications Resource
179Phosphotyrosine (By similarity).Swiss-Prot 53.0
606Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
6PhosphoserineHMM predict
6Phosphoserine(CK2)HMM predict
16Phosphoserine(PKB)HMM predict
16Phosphoserine(PKA)HMM predict
16Phosphoserine(PKG)HMM predict
16PhosphoserineHMM predict
42Phosphoserine(IKK)HMM predict
42Phosphoserine(CK2)HMM predict
42Phosphoserine(CK1)HMM predict
73Phosphoserine(PKG)HMM predict
128Phosphoserine(CK1)HMM predict
128O-linkedHMM predict
128Phosphoserine(IKK)HMM predict
131O-linkedHMM predict
132Phosphoserine(CK1)HMM predict
132Phosphoserine(IKK)HMM predict
206N-linkedHMM predict
208Phosphoserine(CDC2)HMM predict
211Phosphoserine(IKK)HMM predict
214Phosphothreonine(MAPK)HMM predict
214PhosphothreonineHMM predict
214Phosphothreonine(CK2)HMM predict
229Phosphoserine(MAPK)HMM predict
229Phosphoserine(CDC2)HMM predict
229PhosphoserineHMM predict
369N-linkedHMM predict
372Phosphotyrosine(SRC)HMM predict
372Phosphotyrosine(Syk)HMM predict
462Phosphoserine(PKG)HMM predict
585Phosphoserine(IKK)HMM predict
585Phosphoserine(ATM)HMM predict
594Phosphothreonine(PKC)HMM predict
623Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019850
  • Location:chr2 233451662-233586181
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 233585941 233586523 582 51
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 233452765 233453085 320 0
CTCF G2GSE9613 233453616 233454271 655 0
CTCF G2GSE9613 233455243 233456624 1381 0
CTCF G2GSE9613 233457919 233458600 681 0
CTCF G2GSE9613 233459797 233460664 867 0
CTCF G2GSE9613 233463028 233464332 1304 0
CTCF G2GSE9613 233470581 233471008 427 0
CTCF G2GSE9613 233473777 233473968 191 0
CTCF G2GSE9613 233474619 233475105 486 0
CTCF G2GSE9613 233477043 233477226 183 0
CTCF G2GSE9613 233498232 233498538 306 0
CTCF G2GSE9613 233498837 233498994 157 0
CTCF G2GSE9613 233500256 233501398 1142 0
CTCF G2GSE9613 233501766 233501938 172 0
CTCF G2GSE9613 233553017 233553251 234 0
CTCF G2GSE9613 233553742 233554065 323 0
CTCF G2GSE9613 233554838 233555031 193 0
CTCF G2GSE9613 233556290 233556628 338 0
CTCF G2GSE9613 233571303 233571947 644 0
CTCF G2GSE9613 233577260 233577550 290 0
Fos K562GSE19551 233561458 233561826 368 0
FoxA1 MCF7MACSdata 233489082 233489254 172 0
H3ac HepG2E 233584895 233586443 1548 0
Nanog ESGSE20650 233538884 233539492 608 0
Nanog hESGSE18292 233539132 233539573 441 0
P300 T0-glioblastomaGSE21026 233474924 233475616 692 0
P300 T30-glioblastomaGSE21026 233474676 233475629 953 0
P300 T30-glioblastomaGSE21026 233560969 233562066 1097 0
PHF8 Hs68minusFBSGSE20725 233543739 233544231 492 0
TFAP2C MCF7GSE21234 233474982 233475399 417 0
hScc1 BcellGSE12603 233463390 233463706 316 0
hScc1 BcellGSE12603 233468510 233468745 235 0
hScc1 BcellGSE12603 233473777 233473968 191 0
hScc1 BcellGSE12603 233500318 233501398 1080 0
hScc1 BcellGSE12603 233501801 233501975 174 0
hScc1 G2GSE9613 233473777 233473968 191 0
hScc1 G2GSE9613 233500346 233502160 1814 0
hScc1 G2GSE9613 233554838 233555451 613 0
p130 SenescentGSE19898 233474500 233475213 713 0
p130 shRbSenescentGSE19898 233474744 233475252 508 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
15804 EST chr2 233703106 233706099 161 mRNA NGEF chr2 233568918 233703443Sense/Antisense (SA) pairs

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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