AutismKB 2.0

Annotation Detail for CC2D1A


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Basic Information Top
Gene Symbol:CC2D1A ( FLJ20241,FLJ41160,FREUD-1,Freud-1/Aki1,MRT3 )
Gene Full Name: coiled-coil and C2 domain containing 1A
Band: 19p13.12
Quick LinksEntrez ID:54862; OMIM: 610055; Uniprot ID:C2D1A_HUMAN; ENSEMBL ID: ENSG00000132024; HGNC ID: 30237
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
204Phosphothreonine.
207Phosphotyrosine.
208Phosphoserine.
455Phosphoserine.
Location(AA) Modifications Resource
207Phosphotyrosine.Swiss-Prot 53.0
207PhosphotyrosinePhospho.ELM 6.0
208Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
13MethylarginineHMM predict
118O-linkedHMM predict
120Phosphothreonine(MAPK)HMM predict
203O-linkedHMM predict
204O-linkedHMM predict
204Phosphothreonine(MAPK)HMM predict
206O-linkedHMM predict
206O-linkedHMM predict
207Phosphotyrosine(SRC)HMM predict
208O-linkedHMM predict
212Phosphothreonine(PKC)HMM predict
212O-linkedHMM predict
220Phosphoserine(PKB)HMM predict
232O-linkedHMM predict
239O-linkedHMM predict
253Phosphoserine(MAPK)HMM predict
324Phosphoserine(IKK)HMM predict
324Phosphoserine(MAPK)HMM predict
324O-linkedHMM predict
327Phosphoserine(IKK)HMM predict
327O-linkedHMM predict
327Phosphoserine(ATM)HMM predict
331O-linkedHMM predict
331Phosphothreonine(MAPK)HMM predict
337O-linkedHMM predict
337O-linkedHMM predict
338O-linkedHMM predict
339O-linkedHMM predict
339O-linkedHMM predict
455Phosphoserine(IKK)HMM predict
468O-linkedHMM predict
470Phosphothreonine(CDC2)HMM predict
470Phosphothreonine(CDK)HMM predict
470Phosphothreonine(MAPK)HMM predict
473O-linkedHMM predict
473Phosphoserine(IKK)HMM predict
478O-linkedHMM predict
478O-linkedHMM predict
487Phosphoserine(PKC)HMM predict
569Phosphoserine(ATM)HMM predict
592N-linkedHMM predict
595N-linkedHMM predict
602N-linkedHMM predict
633Phosphothreonine(MAPK)HMM predict
674O-linkedHMM predict
717S-palmitoylHMM predict
719N-linkedHMM predict
731Phosphothreonine(PKC)HMM predict
780Phosphothreonine(PKC)HMM predict
780Phosphothreonine(PKA)HMM predict
839N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017721
  • Location:chr19 13878051-13902690
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAFII hESGSE17917 13877727 13878245 518 66
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 13877596 13878573 977 0
ETS1 JurkatGSE17954 13892799 13893869 1070 0
Fos K562GSE19551 13892833 13893724 891 0
hScc1 BcellGSE12603 13885108 13885446 338 0
hScc1 BcellGSE12603 13890571 13891197 626 0
hScc1 BcellGSE12603 13892213 13892465 252 0
hScc1 BcellGSE12603 13899735 13900098 363 0
p130 QuiescentGSE19898 13878334 13878560 226 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
12782 mRNA FLJ20241 chr19 13864992 13902691 96 mRNA MGC11271 chr19 13854167 13877909Sense/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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