AutismKB 2.0

Annotation Detail for C19orf2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C19orf2 ( FLJ10575,NNX3,RMP,URI )
Gene Full Name: chromosome 19 open reading frame 2
Band: 19q12
Quick LinksEntrez ID:8725; OMIM: 603494; Uniprot ID:RMP_HUMAN; ENSEMBL ID: ENSG00000105176; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
241Phosphothreonine.
242Phosphothreonine.
243Phosphoserine.
244Phosphoserine.
440Phosphoserine (By similarity).
Location(AA) Modifications Resource
215Phosphothreonine.Swiss-Prot 53.0
216Phosphothreonine.Swiss-Prot 53.0
217Phosphoserine.Swiss-Prot 53.0
218Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
40Phosphoserine(PKG)HMM predict
41Phosphothreonine(PKC)HMM predict
101Phosphothreonine(PKC)HMM predict
216Phosphothreonine(CK2)HMM predict
217PhosphoserineHMM predict
217Phosphoserine(CK2)HMM predict
217Phosphoserine(CK1)HMM predict
218Phosphoserine(CK2)HMM predict
240Phosphothreonine(MAPK)HMM predict
265N-linkedHMM predict
272Phosphoserine(ATM)HMM predict
272Phosphoserine(CK2)HMM predict
326N-linkedHMM predict
328Phosphothreonine(PKC)HMM predict
344N-linkedHMM predict
345Phosphoserine(PKG)HMM predict
345Phosphoserine(PKA)HMM predict
391Phosphoserine(CK2)HMM predict
391Phosphoserine(IKK)HMM predict
396O-linkedHMM predict
399Phosphoserine(CK2)HMM predict
446Phosphothreonine(MAPK)HMM predict
463O-linkedHMM predict
465Phosphothreonine(MAPK)HMM predict
465O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003796
  • Location:chr19 35125264-35198450
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 35112104 35112140 36 13143
ER MCF7GSE19013 35111237 35111818 581 13737
Oct1 H2O2-HelaGSE14283 35121816 35121844 28 3435
Oct1 HelaGSE14283 35121789 35121844 55 3448
PHF8 Hs68plusFBSGSE20725 35124533 35125970 1437 13
hScc1 BcellGSE12603 35107393 35107537 144 17800
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 35211448 35213930 2482 14239
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 35167543 35168210 667 0
CTCF CD4GSE12889 35149706 35149820 114 0
CTCF CD4SISSRdata 35149706 35149820 114 0
CTCF G2GSE9613 35125233 35125564 331 0
ETS1 JurkatGSE17954 35125312 35125974 662 0
LIN9 G0GSE7516 35167204 35167433 229 0
Myc K562GSE19551 35136219 35136427 208 0
Myc K562GSE19551 35150330 35150687 357 0
Myc K562GSE19551 35171056 35171435 379 0
Nanog hESGSE18292 35136183 35136639 456 0
Oct1 HelaGSE14283 35134973 35135019 46 0
Oct1 HelaGSE14283 35187676 35187739 63 0
P300 T0-glioblastomaGSE21026 35167872 35168233 361 0
P300 T30-glioblastomaGSE21026 35167868 35168383 515 0
PHF8 HeLaGSE20725 35124510 35126124 1614 0
Rb QuiescentGSE19898 35182337 35182477 140 0
TAF HelaGSE8489 35146498 35147169 671 0
TAF k562GSE8489 35139345 35139657 312 0
hScc1 BcellGSE12603 35125024 35125601 577 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