AutismKB 2.0

Annotation Detail for RNF43


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Basic Information Top
Gene Symbol:RNF43 ( DKFZp781H02126,DKFZp781H0392,FLJ20315,FLJ77466,FLJ99338,MGC125630,RNF124,URCC )
Gene Full Name: ring finger protein 43
Band: 17q23.2
Quick LinksEntrez ID:54894; OMIM: 612482; Uniprot ID:RNF43_HUMAN; ENSEMBL ID: ENSG00000108375; HGNC ID: 18505
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
62N-linked (GlcNAc...) (Potential).
92N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
62N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
92N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
41Phosphoserine(CK1)HMM predict
62N-linkedHMM predict
92N-linkedHMM predict
98N-linkedHMM predict
111Phosphoserine(CDC2)HMM predict
262O-linkedHMM predict
264Phosphoserine(CK2)HMM predict
264Phosphoserine(IKK)HMM predict
280Phosphoserine(CK1)HMM predict
315N-linkedHMM predict
321Phosphoserine(IKK)HMM predict
323Phosphoserine(ATM)HMM predict
332Phosphotyrosine(Syk)HMM predict
425Phosphoserine(ATM)HMM predict
444O-linkedHMM predict
446Phosphoserine(CK2)HMM predict
446O-linkedHMM predict
446Phosphoserine(CK1)HMM predict
457Phosphotyrosine(Syk)HMM predict
464O-linkedHMM predict
464Phosphoserine(CK2)HMM predict
466Phosphoserine(IKK)HMM predict
467O-linkedHMM predict
468O-linkedHMM predict
478Phosphoserine(IKK)HMM predict
481N-linkedHMM predict
496O-linkedHMM predict
527Phosphothreonine(PKC)HMM predict
532Phosphoserine(IKK)HMM predict
558Phosphotyrosine(Jak)HMM predict
568MethyllysineHMM predict
593Phosphoserine(MAPK)HMM predict
593Phosphoserine(CDC2)HMM predict
593O-linkedHMM predict
593Phosphoserine(IKK)HMM predict
599O-linkedHMM predict
603Phosphoserine(PKB)HMM predict
603Phosphoserine(PKG)HMM predict
603Phosphoserine(IKK)HMM predict
630O-linkedHMM predict
661O-linkedHMM predict
664O-linkedHMM predict
664Phosphothreonine(CDK)HMM predict
664Phosphothreonine(MAPK)HMM predict
664Phosphothreonine(CDC2)HMM predict
667O-linkedHMM predict
745O-linkedHMM predict
771PhosphoserineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017763
  • Location:chr17 53786038-53849892
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 53849896 53850355 459 233
CTCF CD4SISSRdata 53849896 53850355 459 233
CTCF G2GSE9613 53849873 53850279 406 184
Myc K562GSE19551 53849789 53850280 491 142
Myc K562GSE19551 53869198 53869611 413 19512
Oct4 hESGSE17917 53849976 53850249 273 220
RARA MCF7GSE15244 53849357 53850496 1139 34
TFAP2C MCF7GSE21234 53849580 53850324 744 60
hScc1 BcellGSE12603 53849639 53850352 713 103
hScc1 CdLSGSE12603 53849639 53850387 748 121
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 53784994 53786618 1624 233
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 53786943 53787261 318 0
FOXA1 MCF7GSE15244 53820042 53821192 1150 0
FOXA1 MCF7GSE15244 53823577 53824488 911 0
FoxA1 MCF7MACSdata 53820094 53820530 436 0
FoxA1 MCF7MACSdata 53823757 53824204 447 0
FoxA1 MCF7MACSdata 53845404 53845567 163 0
GATA3 MCF7GSE15244 53820042 53821995 1953 0
H3K4me2 HCT116GSE10453 53847815 53848662 847 0
H3ac HepG2E 53799887 53800210 323 0
H3ac HepG2E 53803082 53803921 839 0
H3ac HepG2E 53804370 53805299 929 0
H3ac HepG2E 53814365 53815498 1133 0
H3ac HepG2E 53824224 53825273 1049 0
H3ac HepG2E 53828534 53828932 398 0
H3ac HepG2E 53845159 53846506 1347 0
H3ac HepG2E 53846845 53850130 3285 0
Myc K562GSE19551 53846925 53847318 393 0
Oct1 HelaGSE14283 53794145 53794216 71 0
Oct1 HelaGSE14283 53811427 53811466 39 0
RARA MCF7GSE15244 53820042 53821763 1721 0
RARA MCF7GSE15244 53823317 53824602 1285 0
RARG MCF7GSE15244 53808910 53809335 425 0
RARG MCF7GSE15244 53820042 53821335 1293 0
RARG MCF7GSE15244 53823541 53824525 984 0
RARG MCF7GSE15244 53849284 53850352 1068 0
TFAP2C MCF7GSE21234 53820063 53820754 691 0
hScc1 BcellGSE12603 53786896 53787225 329 0
p63 keratinocytesGSE17611 53796612 53797677 1065 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


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