AutismKB 2.0

Annotation Detail for ANKRD50


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Basic Information Top
Gene Symbol:ANKRD50 ( KIAA1223 )
Gene Full Name: ankyrin repeat domain 50
Band: 4q28.1
Quick LinksEntrez ID:57182; OMIM: NA; Uniprot ID:ANR50_HUMAN; ENSEMBL ID: ENSG00000151458; HGNC ID: 29223
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1222Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
41Phosphoserine(CDC2)HMM predict
132Phosphoserine(PKA)HMM predict
145N-linkedHMM predict
153O-linkedHMM predict
153O-linkedHMM predict
154O-linkedHMM predict
155O-linkedHMM predict
155O-linkedHMM predict
159O-linkedHMM predict
179S-palmitoylHMM predict
185Phosphoserine(PKG)HMM predict
189Phosphothreonine(PKC)HMM predict
199Phosphoserine(PKG)HMM predict
392N-linkedHMM predict
394Phosphothreonine(MAPK)HMM predict
424N-linkedHMM predict
426Phosphothreonine(CDC2)HMM predict
431Phosphoserine(PKG)HMM predict
526Phosphothreonine(CDK)HMM predict
551N-linkedHMM predict
795Phosphothreonine(MAPK)HMM predict
848N-linkedHMM predict
851N-linkedHMM predict
1055O-linkedHMM predict
1057Phosphoserine(CDC2)HMM predict
1072Phosphoserine(CK1)HMM predict
1082N-linkedHMM predict
1084Phosphoserine(CK1)HMM predict
1108O-linkedHMM predict
1111O-linkedHMM predict
1111Phosphoserine(CK2)HMM predict
1113Phosphoserine(ATM)HMM predict
1113Phosphoserine(CDK)HMM predict
1113Phosphoserine(CDC2)HMM predict
1124Phosphoserine(IKK)HMM predict
1135N-linkedHMM predict
1136Phosphoserine(CDC2)HMM predict
1141O-linkedHMM predict
1142O-linkedHMM predict
1142Phosphoserine(IKK)HMM predict
1142O-linkedHMM predict
1143O-linkedHMM predict
1144O-linkedHMM predict
1168Phosphoserine(IKK)HMM predict
1177Phosphoserine(IKK)HMM predict
1180Phosphoserine(CDC2)HMM predict
1180Phosphoserine(MAPK)HMM predict
1180O-linkedHMM predict
1185O-linkedHMM predict
1187Phosphoserine(IKK)HMM predict
1194Phosphoserine(MAPK)HMM predict
1194Phosphoserine(CDC2)HMM predict
1214Phosphoserine(PKC)HMM predict
1235Phosphoserine(IKK)HMM predict
1235Phosphoserine(PKG)HMM predict
1236N-linkedHMM predict
1238Phosphoserine(CK1)HMM predict
1238Phosphoserine(ATM)HMM predict
1288Phosphoserine(ATM)HMM predict
1343Phosphotyrosine(EGFR)HMM predict
1348Phosphothreonine(CDK)HMM predict
1351Phosphoserine(CK1)HMM predict
1363Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020337
  • Location:chr4 125804917-125851381
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 125852039 125853420 1381 1348
CTCF G2GSE9613 125853923 125854509 586 2835
H3K4me2 HCT116GSE10453 125851694 125852377 683 654
H3K4me3 colorectalcancer 125851409 125852674 1265 660
KLF4 hESGSE17917 125853299 125853568 269 2052
Myc K562GSE19551 125853880 125854348 468 2733
Oct1 HelaGSE14283 125854977 125855006 29 3610
Oct1 HelaGSE14283 125859009 125859040 31 7643
Oct1 HelaGSE14283 125862356 125862395 39 10994
Oct1 HelaGSE14283 125867818 125867852 34 16454
PHF8 293TGSE20725 125852530 125854314 1784 2041
PHF8 HeLaGSE20725 125852366 125854073 1707 1838
PHF8 Hs68minusFBSGSE20725 125852498 125854504 2006 2120
PHF8 Hs68plusFBSGSE20725 125852782 125854388 1606 2204
TFAP2C MCF7GSE21234 125853562 125854299 737 2549
hScc1 BcellGSE12603 125852674 125853570 896 1741
p130 SenescentGSE19898 125853574 125854306 732 2559
p130 shRbQuiescentGSE19898 125853608 125854471 863 2658
p130 shRbSenescentGSE19898 125853480 125854269 789 2493
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 125788537 125788850 313 16224
Oct1 HelaGSE14283 125793533 125793570 37 11366
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 125807329 125807357 28 0
Oct1 HelaGSE14283 125828807 125828839 32 0
Oct1 HelaGSE14283 125845491 125845555 64 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