AutismKB 2.0

Annotation Detail for CCDC93


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CCDC93 ( FLJ10996,FLJ25197,MGC13033 )
Gene Full Name: coiled-coil domain containing 93
Band: 2q14.1
Quick LinksEntrez ID:54520; OMIM: NA; Uniprot ID:CCD93_HUMAN; ENSEMBL ID: ENSG00000125633; HGNC ID: 25611
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
298Phosphoserine.
301Phosphoserine.
305Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
60S-palmitoylHMM predict
77N-linkedHMM predict
137Phosphotyrosine(INSR)HMM predict
142Phosphoserine(CAMK2)HMM predict
144Phosphoserine(ATM)HMM predict
176Phosphotyrosine(Syk)HMM predict
291Phosphoserine(CK2)HMM predict
301Phosphoserine(CK2)HMM predict
301Phosphoserine(CK1)HMM predict
305PhosphoserineHMM predict
353Phosphothreonine(PKC)HMM predict
398Phosphoserine(ATM)HMM predict
435Phosphoserine(CK1)HMM predict
436O-linkedHMM predict
445O-linkedHMM predict
537Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019044
  • Location:chr2 118389618-118488166
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 118506542 118506845 303 18527
CTCF CD4SISSRdata 118506542 118506845 303 18527
CTCF G2GSE9613 118506327 118506979 652 18487
H3ac HepG2E 118488376 118489026 650 535
Nanog hESGSE18292 118495337 118495911 574 7458
Nanog hESGSE18292 118501301 118501773 472 13371
Oct1 HelaGSE14283 118491216 118491247 31 3065
Oct1 HelaGSE14283 118492411 118492440 29 4259
SRF GMOGSE8489 118490740 118490979 239 2693
hScc1 CdLSGSE12603 118506248 118507011 763 18463
hScc1 G2GSE9613 118506327 118507011 684 18503
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 118389164 118389343 179 365
Oct1 HelaGSE14283 118377299 118377332 33 12303
Oct1 HelaGSE14283 118380939 118380968 29 8665
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 118391384 118391708 324 0
CTCF G2GSE9613 118477118 118477992 874 0
CTCF G2GSE9613 118486993 118487343 350 0
CTCF G2GSE9613 118487843 118488230 387 0
ER Fulvestrant-MCF7GSE14664 118430870 118430903 33 0
FOXA1 MCF7GSE15244 118431959 118433084 1125 0
FOXA1 MCF7GSE15244 118470326 118471247 921 0
FoxA1 MCF7MACSdata 118432235 118432635 400 0
H3K4me3 colorectalcancer 118486041 118487308 1267 0
H3ac HepG2E 118485652 118487418 1766 0
Myc K562GSE19551 118477427 118477700 273 0
Nanog hESGSE18292 118477374 118477693 319 0
Oct1 HelaGSE14283 118421105 118421134 29 0
Oct1 HelaGSE14283 118433489 118433535 46 0
Oct1 HelaGSE14283 118443448 118443478 30 0
Oct1 HelaGSE14283 118443679 118443733 54 0
Oct1 HelaGSE14283 118476971 118477018 47 0
Oct1 HelaGSE14283 118486845 118486886 41 0
Oct4 hESGSE17917 118456712 118456864 152 0
P300 T30-glioblastomaGSE21026 118454773 118455287 514 0
PHF8 HeLaGSE20725 118487003 118488808 1805 0
RARA MCF7GSE15244 118431959 118433129 1170 0
RARA MCF7GSE15244 118449145 118450307 1162 0
Rb shRbQuiescentGSE19898 118415866 118416086 220 0
Rb shRbQuiescentGSE19898 118447777 118447999 222 0
Rb shRbQuiescentGSE19898 118487195 118487385 190 0
SRF HelaGSE8489 118479273 118479502 229 0
TFAP2C MCF7GSE21234 118431455 118432077 622 0
TFAP2C MCF7GSE21234 118449825 118450180 355 0
USF1 HepG2E 118476126 118476776 650 0
USF1 HepG2E 118477118 118478846 1728 0
USF1 HepG2E 118479813 118480341 528 0
USF2 HepG2E 118477118 118478775 1657 0
hScc1 BcellGSE12603 118477417 118477854 437 0
hScc1 CdLSGSE12603 118477265 118477756 491 0
hScc1 G2GSE9613 118477118 118477928 810 0
p130 SenescentGSE19898 118454779 118455147 368 0
p130 shRbQuiescentGSE19898 118487890 118488378 488 0
p130 shRbSenescentGSE19898 118454431 118454685 254 0
p130 shRbSenescentGSE19898 118455331 118455639 308 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
14911 EST chr2 118409296 118409690 85 mRNA FLJ10996 chr2 118393401 118487936Sense/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