AutismKB 2.0

Annotation Detail for CHRND


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Basic Information Top
Gene Symbol:CHRND ( ACHRD,CMS2A,FCCMS,SCCMS )
Gene Full Name: cholinergic receptor, nicotinic, delta
Band: 2q37.1
Quick LinksEntrez ID:1144; OMIM: 100720; Uniprot ID:ACHD_HUMAN; ENSEMBL ID: ENSG00000135902; HGNC ID: 1965
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
97N-linked (GlcNAc...) (Potential).
164N-linked (GlcNAc...) (Potential).
390Phosphotyrosine; by Tyr-kinases (By
Location(AA) Modifications Resource
97N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
164N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
390Phosphotyrosine (by Tyr-kinases) (Bysimilarity).Swiss-Prot 53.0
Location(AA) Modification Resource
190N-linkedHMM predict
230Phosphoserine(CDK)HMM predict
230Phosphoserine(CDC2)HMM predict
337Phosphothreonine(CDC2)HMM predict
379Phosphoserine(CK1)HMM predict
379Phosphoserine(PKG)HMM predict
379Phosphoserine(PKA)HMM predict
380Phosphoserine(PKA)HMM predict
380Phosphoserine(PKC)HMM predict
380Phosphoserine(PKA)HMM predict
383Phosphotyrosine(INSR)HMM predict
383Phosphotyrosine(Jak)HMM predict
385Phosphoserine(CK2)HMM predict
415Phosphothreonine(PKC)HMM predict
416Phosphothreonine(PKC)HMM predict
423O-linkedHMM predict
455Phosphotyrosine(Syk)HMM predict
468Phosphothreonine(PKC)HMM predict
494Phosphotyrosine(Abl)HMM predict
516PhenylalanineHMM predict
517PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000751
  • Location:chr2 233099165-233108447
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 233095062 233095314 252 3978
CTCF CD4SISSRdata 233095062 233095314 252 3978
CTCF G2GSE9613 233080301 233081103 802 18464
CTCF G2GSE9613 233081666 233081802 136 17432
CTCF G2GSE9613 233084396 233084563 167 14686
CTCF G2GSE9613 233090081 233090357 276 8947
CTCF G2GSE9613 233091682 233092023 341 7313
CTCF G2GSE9613 233092536 233092694 158 6551
CTCF G2GSE9613 233094143 233094518 375 4835
CTCF G2GSE9613 233094799 233096210 1411 3661
CTCF G2GSE9613 233096565 233097171 606 2298
CTCF G2GSE9613 233097712 233098028 316 1296
CTCF G2GSE9613 233098745 233099019 274 284
ER MCF7GSE19013 233084262 233084795 533 14637
hScc1 BcellGSE12603 233094756 233097171 2415 3202
hScc1 G2GSE9613 233090151 233090357 206 8912
hScc1 G2GSE9613 233094364 233096139 1775 3914
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 233109989 233110368 379 1731
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 233101728 233102262 534 0
CTCF G2GSE9613 233102964 233103425 461 0
CTCF G2GSE9613 233103907 233104378 471 0
CTCF G2GSE9613 233106856 233108072 1216 0
ETS1 JurkatGSE17954 233101956 233102613 657 0
RUNX JurkatGSE17954 233102037 233102144 107 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