AutismKB 2.0

Annotation Detail for CHRNA1


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Basic Information Top
Gene Symbol:CHRNA1 ( ACHRA,ACHRD,CHRNA,CMS2A,FCCMS,SCCMS )
Gene Full Name: cholinergic receptor, nicotinic, alpha 1 (muscle)
Band: 2q31.1
Quick LinksEntrez ID:1134; OMIM: 100690; Uniprot ID:ACHA_HUMAN; ENSEMBL ID: ENSG00000138435; HGNC ID: 1955
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
186N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
186N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
236Phosphoserine(IKK)HMM predict
243Phosphotyrosine(Syk)HMM predict
289Phosphothreonine(PKC)HMM predict
311O-linkedHMM predict
349Phosphoserine(PKB)HMM predict
378PhosphoserineHMM predict
475LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000079
  • Location:chr2 175320569-175337426
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 175344646 175344783 137 7288
CTCF CD4SISSRdata 175344646 175344783 137 7288
CTCF G2GSE9613 175344556 175344872 316 7288
FoxA1 MCF7MACSdata 175337590 175337904 314 321
Myc hESGSE17917 175339915 175340275 360 2669
Nanog hESGSE18292 175344711 175345315 604 7587
P300 T30-glioblastomaGSE21026 175351015 175352400 1385 14281
TFAP2C MCF7GSE21234 175344581 175345146 565 7437
hScc1 G2GSE9613 175344521 175344941 420 7305
p130 shRbQuiescentGSE19898 175351410 175352209 799 14383
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 175302884 175303362 478 17447
Nanog hESGSE18292 175303480 175303804 324 16928
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 175321804 175322127 323 0
CTCF CD4SISSRdata 175321804 175322127 323 0
CTCF G2GSE9613 175321695 175322152 457 0
hScc1 BcellGSE12603 175321771 175322226 455 0
hScc1 CdLSGSE12603 175321617 175322297 680 0
hScc1 G2GSE9613 175321695 175322226 531 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