AutismKB 2.0

Annotation Detail for CCDC19


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Basic Information Top
Gene Symbol:CCDC19 ( NESG1 )
Gene Full Name: coiled-coil domain containing 19
Band: 1q22
Quick LinksEntrez ID:25790; OMIM: 605152; Uniprot ID:CCD19_HUMAN; ENSEMBL ID: ENSG00000213085; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
289Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
6Phosphothreonine(PKC)HMM predict
25Phosphoserine(CK2)HMM predict
101Phosphoserine(PKG)HMM predict
135Phosphoserine(CK1)HMM predict
244SulfotyrosineHMM predict
285Phosphoserine(PKG)HMM predict
334Phosphotyrosine(Abl)HMM predict
347Phosphothreonine(PKC)HMM predict
360MethylarginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012337
  • Location:chr1 158108779-158136529
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 158136451 158136684 233 38
TFAP2C MCF7GSE21234 158136767 158137220 453 464
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 158105669 158106036 367 2927
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 158127897 158128453 556 0
CTCF CD4SISSRdata 158127897 158128453 556 0
CTCF HelaGSE12889 158128020 158128448 428 0
CTCF JurkatGSE12889 158127942 158128371 429 0
CTCF G2GSE9613 158127774 158128393 619 0
Oct1 HelaGSE14283 158119994 158120026 32 0
Oct4 hESGSE17917 158127816 158128274 458 0
P300 T0-glioblastomaGSE21026 158125976 158126844 868 0
TAF HelaGSE8489 158118387 158119560 1173 0
TAFII hESGSE17917 158128080 158128302 222 0
hScc1 BcellGSE12603 158127811 158128393 582 0
hScc1 BcellGSE12603 158135497 158135651 154 0
hScc1 CdLSGSE12603 158127659 158128393 734 0
hScc1 G2GSE9613 158127811 158128393 582 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