AutismKB 2.0

Annotation Detail for ANKRD40


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Basic Information Top
Gene Symbol:ANKRD40 ( DKFZp451K241,MGC15396 )
Gene Full Name: ankyrin repeat domain 40
Band: 17q21.33
Quick LinksEntrez ID:91369; OMIM: NA; Uniprot ID:ANR40_HUMAN; ENSEMBL ID: ENSG00000154945; HGNC ID: 28233
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
74Phosphothreonine(CK2)HMM predict
84Phosphothreonine(PKC)HMM predict
134O-linkedHMM predict
149O-linkedHMM predict
150PhosphothreonineHMM predict
150Phosphothreonine(CDK)HMM predict
150Phosphothreonine(MAPK)HMM predict
154Phosphoserine(MAPK)HMM predict
154O-linkedHMM predict
154Phosphoserine(ATM)HMM predict
160Phosphoserine(IKK)HMM predict
199Phosphothreonine(MAPK)HMM predict
199Phosphothreonine(CDK)HMM predict
214Phosphoserine(ATM)HMM predict
230O-linkedHMM predict
235N-linkedHMM predict
238Phosphotyrosine(INSR)HMM predict
269N-linkedHMM predict
275N-linkedHMM predict
296S-palmitoylHMM predict
297S-palmitoylHMM predict
352Phosphothreonine(PKC)HMM predict
359TyrosineHMM predict
364Phosphoserine(PKA)HMM predict
364Phosphoserine(PKG)HMM predict
364SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052855
  • Location:chr17 46127681-46140261
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 46141553 46141591 38 1311
H3K4me2 HCT116GSE10453 46141004 46141521 517 1001
H3ac HepG2E 46140366 46141521 1155 682
TAF k562GSE8489 46140598 46141521 923 798
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46127547 46127687 140 65
CTCF CD4SISSRdata 46127547 46127687 140 65
Oct1 HelaGSE14283 46125923 46125952 29 1744
hScc1 CdLSGSE12603 46127183 46127682 499 249
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46127414 46128048 634 0
ETS1 JurkatGSE17954 46139049 46140777 1728 0
H3ac HepG2E 46135741 46136567 826 0
H3ac HepG2E 46139305 46139800 495 0
Oct1 H2O2-HelaGSE14283 46138937 46138968 31 0
Oct1 HelaGSE14283 46128791 46128823 32 0
Oct1 HelaGSE14283 46138933 46138968 35 0
PHF8 293TGSE20725 46139441 46140594 1153 0
PHF8 HeLaGSE20725 46139407 46140663 1256 0
PHF8 Hs68plusFBSGSE20725 46139196 46140653 1457 0
USF1 HepG2E 46139305 46139631 326 0
USF2 HepG2E 46139305 46139595 290 0
hScc1 BcellGSE12603 46139417 46140326 909 0
hScc1 CdLSGSE12603 46137565 46137832 267 0
hScc1 CdLSGSE12603 46139631 46140326 695 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