AutismKB 2.0

Annotation Detail for NEUROD1


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Basic Information Top
Gene Symbol:NEUROD1 ( BETA2,BHF-1,MODY6,NEUROD,bHLHa3 )
Gene Full Name: neurogenic differentiation 1
Band: 2q31.3
Quick LinksEntrez ID:4760; OMIM: 601724; Uniprot ID:NDF1_HUMAN; ENSEMBL ID: ENSG00000162992; HGNC ID: 7762
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
93Nuclear localization signal (Potential).
162Phosphoserine (By similarity).
259Phosphoserine (By similarity).
266Phosphoserine (By similarity).
274Phosphoserine (By similarity).
335Phosphoserine; by CaMK2 (By similarity).
Location(AA) Modifications Resource
274Phosphoserine (By similarity).Swiss-Prot 53.0
335Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
6Phosphoserine(CAMK2)HMM predict
28Phosphoserine(CK1)HMM predict
29Phosphoserine(CK2)HMM predict
29Phosphoserine(ATM)HMM predict
52Phosphoserine(CK1)HMM predict
92Phosphothreonine(PKC)HMM predict
92Phosphothreonine(PKA)HMM predict
167Phosphoserine(IKK)HMM predict
211O-linkedHMM predict
219Phosphotyrosine(Abl)HMM predict
228Phosphoserine(MAPK)HMM predict
231Phosphotyrosine(SRC)HMM predict
231Phosphotyrosine(Abl)HMM predict
233Phosphothreonine(PKC)HMM predict
274Phosphoserine(MAPK)HMM predict
274Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002500
  • Location:chr2 182249439-182253498
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 182256588 182257478 890 3535
H3K27me3 colorectalcancer 182251054 182256397 5343 227
H3K27me3 colorectalcancer 182257369 182258754 1385 4563
NRSF mAbJurkat 182254069 182255058 989 1065
NRSF mAbJurkat 182257177 182260204 3027 5192
NRSF-mono JurkatQuESTdata 182257987 182258654 667 4822
NRSF-poly JurkatQuESTdata 182258103 182258675 572 4891
TFAP2C MCF7GSE21234 182256291 182256686 395 2990
TFAP2C MCF7GSE21234 182258051 182258620 569 4837
hScc1 BcellGSE12603 182256561 182257035 474 3300
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 182244720 182244974 254 4593
Nanog hESGSE18292 182240190 182240503 313 9093
Sox2 hESGSE18292 182240269 182240502 233 9054
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 182250661 182251926 1265 0
NRSF mAbJurkat 182247934 182253792 5858 0
NRSF-mono JurkatQuESTdata 182250658 182251860 1202 0
NRSF-poly JurkatQuESTdata 182250605 182251962 1357 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-124 hsa-mir-124-1 8 21131276
hsa-miR-124 hsa-mir-124-2 8 21131276
hsa-miR-124 hsa-mir-124-3 20 21131276
hsa-miR-130a hsa-mir-130a 11 21067317
hsa-miR-130a* hsa-mir-130a 11 21067317
hsa-miR-135a hsa-mir-135a-1 3 20194722
hsa-miR-135a hsa-mir-135a-2 12 20194722
hsa-miR-15a hsa-mir-15a 13 17936263
hsa-miR-15a* hsa-mir-15a 13 17936263
hsa-miR-15b hsa-mir-15b 3 17936263
hsa-miR-15b* hsa-mir-15b 3 17936263
hsa-miR-16 hsa-mir-16-1 13 17936263
hsa-miR-16 hsa-mir-16-2 3 17936263
hsa-miR-17 hsa-mir-17 13 21067317
hsa-miR-17* hsa-mir-17 13 21067317
hsa-miR-190 hsa-mir-190 15 20554861
hsa-miR-195 hsa-mir-195 17 17936263
hsa-miR-195* hsa-mir-195 17 17936263
hsa-miR-199a-5p hsa-mir-199a-1 19 20194722
hsa-miR-199a-5p hsa-mir-199a-2 1 20194722
hsa-miR-9 hsa-mir-9-1 1 18842901
hsa-miR-9 hsa-mir-9-2 5 18842901
hsa-miR-9 hsa-mir-9-3 15 18842901
hsa-miR-92a hsa-mir-92a-1 13 21067317
hsa-miR-92a hsa-mir-92a-2 X 21067317
No data
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