AutismKB 2.0

Annotation Detail for C7orf47


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Basic Information Top
Gene Symbol:C7orf47 ( MGC22793 )
Gene Full Name: chromosome 7 open reading frame 47
Band: 7q22.1
Quick LinksEntrez ID:221908; OMIM: NA; Uniprot ID:CG047_HUMAN; ENSEMBL ID: ENSG00000160813; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
45Phosphoserine.
47Phosphoserine.
52Phosphoserine.
84Phosphothreonine.
87Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
47PhosphoserineHMM predict
47Phosphoserine(ATM)HMM predict
47Phosphoserine(MAPK)HMM predict
47Phosphoserine(CDC2)HMM predict
52Phosphoserine(CDK)HMM predict
52Phosphoserine(CDC2)HMM predict
59Phosphoserine(CDC2)HMM predict
59Phosphoserine(CDK)HMM predict
59PhosphoserineHMM predict
70MethylarginineHMM predict
87Phosphoserine(CDC2)HMM predict
87Phosphoserine(CDK)HMM predict
91O-linkedHMM predict
147Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_145030
  • Location:chr7 99870847-99872029
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 99878713 99878920 207 6787
ETS1 JurkatGSE17954 99871686 99872505 819 66
Oct1 HelaGSE14283 99873326 99873364 38 1316
Rb SenescentGSE19898 99871897 99872179 282 9
USF1 HepG2E 99878580 99879112 532 6817
USF1 HepG2E 99879911 99880789 878 8321
USF2 HepG2E 99879911 99880275 364 8064
p130 SenescentGSE19898 99871988 99872401 413 165
p130 SenescentGSE19898 99875188 99875536 348 3333
p130 SenescentGSE19898 99880002 99880590 588 8267
p130 shRbQuiescentGSE19898 99872052 99872565 513 279
p130 shRbQuiescentGSE19898 99875003 99875798 795 3371
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 99870346 99871035 689 157
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 99871410 99872024 614 0
NFkBII GM10847GSE19485 99871427 99872627 1200 0
PHF8 HeLaGSE20725 99871028 99872656 1628 0
hScc1 BcellGSE12603 99871071 99872137 1066 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