AutismKB 2.0

Annotation Detail for CHM


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Basic Information Top
Gene Symbol:CHM ( DXS540,FLJ38564,GGTA,HSD-32,MGC102710,REP-1,TCD )
Gene Full Name: choroideremia (Rab escort protein 1)
Band: Xq21.2
Quick LinksEntrez ID:1121; OMIM: 300390; Uniprot ID:RAE1_HUMAN; ENSEMBL ID: ENSG00000188419; HGNC ID: 1940
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
305Phosphotyrosine.
651Phosphoserine.
652Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
129N-linkedHMM predict
145Phosphoserine(IKK)HMM predict
158Phosphothreonine(MAPK)HMM predict
161Phosphoserine(ATM)HMM predict
259N-linkedHMM predict
288Phosphothreonine(PKC)HMM predict
312Phosphotyrosine(Syk)HMM predict
315Phosphotyrosine(Syk)HMM predict
438Phosphotyrosine(Jak)HMM predict
466PhosphothreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000390
  • Location:chrX 85002841-85189221
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T0-glioblastomaGSE21026 85188737 85189797 1060 46
USF1 HepG2E 85188480 85190435 1955 236
p130 QuiescentGSE19898 85189367 85189744 377 334
p130 shRbSenescentGSE19898 85188810 85189656 846 12
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 84993207 84993354 147 9561
CTCF CD4SISSRdata 84993207 84993354 147 9561
CTCF G2GSE9613 84993218 84993553 335 9456
hScc1 BcellGSE12603 84993050 84993438 388 9598
hScc1 G2GSE9613 84993050 84993874 824 9380
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 85188944 85189153 209 0
ER E2-MCF7GSE14664 85023298 85023333 35 0
ER Fulvestrant-MCF7GSE14664 85023293 85023330 37 0
ETS1 JurkatGSE17954 85188573 85189635 1062 0
FOXA1 MCF7GSE15244 85134349 85134732 383 0
H3K4me3 colorectalcancer 85188336 85189042 706 0
H3ac HepG2E 85188480 85189188 708 0
Oct1 H2O2-HelaGSE14283 85139002 85139075 73 0
Oct1 H2O2-HelaGSE14283 85171897 85171926 29 0
Oct1 HelaGSE14283 85023296 85023325 29 0
Oct1 HelaGSE14283 85139002 85139035 33 0
Oct1 HelaGSE14283 85163045 85163073 28 0
P300 T30-glioblastomaGSE21026 85188511 85189487 976 0
PHF8 Hs68plusFBSGSE20725 85188443 85189643 1200 0
PolII HeLaGSE12783 85187770 85189510 1740 0
Rb QuiescentGSE19898 85188752 85189274 522 0
Rb SenescentGSE19898 85063936 85064277 341 0
Rb SenescentGSE19898 85064592 85064908 316 0
Rb SenescentGSE19898 85188603 85189321 718 0
TAF HelaGSE8489 85188135 85189829 1694 0
TAF k562GSE8489 85188135 85189865 1730 0
USF2 HepG2E 85188588 85189790 1202 0
hScc1 BcellGSE12603 85188841 85189115 274 0
p130 QuiescentGSE19898 85189117 85189310 193 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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