AutismKB 2.0

Annotation Detail for CHCHD3


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Basic Information Top
Gene Symbol:CHCHD3 ( FLJ20420 )
Gene Full Name: coiled-coil-helix-coiled-coil-helix domain containing 3
Band: 7q32.3-q33
Quick LinksEntrez ID:54927; OMIM: NA; Uniprot ID:CHCH3_HUMAN; ENSEMBL ID: ENSG00000106554; HGNC ID: 21906
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
49Phosphotyrosine.
50Phosphoserine.
58Phosphoserine (By similarity).
142N6-acetyllysine.
Location(AA) Modifications Resource
50Phosphoserine.Swiss-Prot 53.0
50PhosphoserinePhospho.ELM 6.0
58Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
11Phosphothreonine(PKA)HMM predict
19N-linkedHMM predict
39Phosphoserine(PKG)HMM predict
40Phosphoserine(IKK)HMM predict
42Phosphoserine(CK1)HMM predict
46Phosphoserine(ATM)HMM predict
156Phosphotyrosine(Syk)HMM predict
201Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017812
  • Location:chr7 132120163-132417367
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 132416742 132418048 1306 28
Fos K562GSE19551 132417025 132417981 956 136
P300 T0-glioblastomaGSE21026 132417135 132417956 821 178
P300 T30-glioblastomaGSE21026 132416831 132418008 1177 52
Rb GrowingGSE19898 132417332 132417698 366 148
Rb QuiescentGSE19898 132417192 132417736 544 97
Rb SenescentGSE19898 132417210 132417702 492 89
p130 QuiescentGSE19898 132417284 132417744 460 147
p130 SenescentGSE19898 132417148 132417810 662 112
p130 shRbQuiescentGSE19898 132417080 132417754 674 50
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 132117974 132119806 1832 1274
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 132265816 132266271 455 0
CTCF G2GSE9613 132386378 132386557 179 0
ER E2-MCF7GSE14664 132155471 132155669 198 0
ER Fulvestrant-MCF7GSE14664 132155475 132155551 76 0
ER Fulvestrant-MCF7GSE14664 132407419 132407451 32 0
H3K4me3 colorectalcancer 132416315 132416981 666 0
H3ac HepG2E 132416240 132417176 936 0
Nanog hESGSE18292 132333909 132334359 450 0
Oct1 H2O2-HelaGSE14283 132144144 132144186 42 0
Oct1 H2O2-HelaGSE14283 132395516 132395589 73 0
Oct1 HelaGSE14283 132144120 132144186 66 0
Oct1 HelaGSE14283 132395499 132395642 143 0
Oct1 HelaGSE14283 132407421 132407453 32 0
PHF8 HeLaGSE20725 132416671 132417908 1237 0
PHF8 Hs68minusFBSGSE20725 132416664 132417530 866 0
PHF8 Hs68plusFBSGSE20725 132416566 132417665 1099 0
Pol3 GM12878GSE19551 132304338 132304767 429 0
Rb GrowingGSE19898 132215445 132215592 147 0
TAF HelaGSE8489 132266583 132267066 483 0
USF1 HepG2E 132416357 132417812 1455 0
hScc1 CdLSGSE12603 132266092 132266622 530 0
p130 shRbSenescentGSE19898 132416827 132417710 883 0
p63 keratinocytesGSE17611 132135585 132136360 775 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
24666 EST chr7 131972706 131991624 18918 mRNA CHCHD3 chr7 131926878 132224083 Non-exonic Bidirectional (NOB) 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