AutismKB 2.0

Annotation Detail for CCDC50


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Basic Information Top
Gene Symbol:CCDC50 ( C3orf6,DFNA44,YMER )
Gene Full Name: coiled-coil domain containing 50
Band: 3q28
Quick LinksEntrez ID:152137; OMIM: 611051; Uniprot ID:CCD50_HUMAN; ENSEMBL ID: ENSG00000152492; HGNC ID: 18111
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
140Phosphotyrosine.
144Phosphotyrosine.
145Phosphotyrosine.
279Phosphotyrosine.
Location(AA) Modifications Resource
140Phosphotyrosine.Swiss-Prot 53.0
144Phosphotyrosine.Swiss-Prot 53.0
145Phosphotyrosine.Swiss-Prot 53.0
279Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphoserine(IKK)HMM predict
77Phosphotyrosine(Syk)HMM predict
145Phosphotyrosine(Syk)HMM predict
162Phosphothreonine(MAPK)HMM predict
247Phosphoserine(PKG)HMM predict
249Phosphoserine(CK1)HMM predict
252Phosphoserine(CK2)HMM predict
279SulfotyrosineHMM predict
293Phosphoserine(CAMK2)HMM predict
293Phosphoserine(PKB)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_174908
  • Location:chr3 192529567-192592657
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 192529062 192529593 531 240
H3K4me3 colorectalcancer 192529170 192529494 324 236
H3ac HepG2E 192529133 192529703 570 150
RARA MCF7GSE15244 192529097 192529494 397 272
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 192538174 192539232 1058 0
CTCF G2GSE9613 192529593 192530143 550 0
Fos K562GSE19551 192538207 192538843 636 0
H3ac HepG2E 192530379 192531873 1494 0
Nanog ESGSE20650 192529504 192530127 623 0
Nanog hESGSE18292 192569401 192570500 1099 0
P300 T30-glioblastomaGSE21026 192538168 192538985 817 0
RARA MCF7GSE15244 192577180 192577616 436 0
TAF k562GSE8489 192530750 192531480 730 0
TFAP2C MCF7GSE21234 192557508 192557763 255 0
hScc1 BcellGSE12603 192529873 192530584 711 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
19175 mRNA C3orf6 chr3 192529575 192592666 239 EST chr3 192528721 192530547Sense/Antisense (SA) 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


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