AutismKB 2.0

Annotation Detail for ANKRD27


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Basic Information Top
Gene Symbol:ANKRD27 ( DKFZp434L0718,FLJ00040,VARP )
Gene Full Name: ankyrin repeat domain 27 (VPS9 domain)
Band: 19q13.11
Quick LinksEntrez ID:84079; OMIM: NA; Uniprot ID:ANR27_HUMAN; ENSEMBL ID: ENSG00000105186; HGNC ID: 25310
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1023Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
14Phosphotyrosine(Jak)HMM predict
46Phosphoserine(IKK)HMM predict
101Phosphotyrosine(Syk)HMM predict
101Phosphotyrosine(EGFR)HMM predict
122Phosphoserine(CK1)HMM predict
122Phosphoserine(CK2)HMM predict
122Phosphoserine(PKG)HMM predict
122PhosphoserineHMM predict
123PhosphoserineHMM predict
279Phosphoserine(CDC2)HMM predict
299Phosphoserine(ATM)HMM predict
331N-linkedHMM predict
337N-linkedHMM predict
366Phosphoserine(CAMK2)HMM predict
388Phosphoserine(IKK)HMM predict
418Phosphoserine(ATM)HMM predict
418Phosphoserine(CK1)HMM predict
455Phosphothreonine(CDK)HMM predict
465Phosphothreonine(MAPK)HMM predict
490N-linkedHMM predict
498Phosphothreonine(MAPK)HMM predict
531Phosphothreonine(MAPK)HMM predict
567Phosphothreonine(MAPK)HMM predict
627Phosphoserine(IKK)HMM predict
634Phosphoserine(CDC2)HMM predict
634Phosphoserine(CDK)HMM predict
643Phosphoserine(CK1)HMM predict
643Phosphoserine(ATM)HMM predict
650Phosphoserine(IKK)HMM predict
650O-linkedHMM predict
653Phosphoserine(IKK)HMM predict
667Phosphotyrosine(EGFR)HMM predict
704Phosphoserine(IKK)HMM predict
715S-palmitoylHMM predict
738N-linkedHMM predict
819Phosphoserine(ATM)HMM predict
916Phosphothreonine(PKC)HMM predict
928Phosphotyrosine(INSR)HMM predict
952Phosphothreonine(PKC)HMM predict
965N-linkedHMM predict
1041Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032139
  • Location:chr19 37779746-37857941
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 37857619 37858469 850 103
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 37775726 37775758 32 4005
Oct1 HelaGSE14283 37775721 37775766 45 4003
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 37825153 37826773 1620 0
CTCF CD4GSE12889 37782490 37782842 352 0
CTCF CD4SISSRdata 37782490 37782842 352 0
CTCF G2GSE9613 37782342 37782716 374 0
CTCF G2GSE9613 37857233 37857659 426 0
ER E2-MCF7GSE14664 37808313 37808353 40 0
ER E2-MCF7GSE14664 37849459 37849493 34 0
ER Fulvestrant-MCF7GSE14664 37833520 37833594 74 0
FOXA1 MCF7GSE15244 37852788 37853150 362 0
FoxA1 MCF7MACSdata 37852798 37852996 198 0
Gata1 K562GSE18868 37810952 37811699 747 0
Gata2 K562GSE18868 37811071 37811768 697 0
Nanog hESGSE18292 37782541 37782741 200 0
Oct1 H2O2-HelaGSE14283 37838802 37838831 29 0
Oct1 HelaGSE14283 37789868 37789894 26 0
Oct1 HelaGSE14283 37853430 37853470 40 0
USF1 HepG2E 37852788 37853150 362 0
hScc1 BcellGSE12603 37856946 37858194 1248 0
p130 shRbSenescentGSE19898 37857788 37858067 279 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
257 Unknown MicroArray miR-124 ANKRD27 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000105186 G1-to-S transition n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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