AutismKB 2.0

Annotation Detail for UACA


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Basic Information Top
Gene Symbol:UACA ( FLJ10128,KIAA1561,MGC141967,MGC141969,NUCLING )
Gene Full Name: uveal autoantigen with coiled-coil domains and ankyrin repeats
Band: 15q23
Quick LinksEntrez ID:55075; OMIM: 612516; Uniprot ID:UACA_HUMAN; ENSEMBL ID: ENSG00000137831; HGNC ID: 15947
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
562N6-acetyllysine.
723Phosphotyrosine.
1065Phosphothreonine.
Location(AA) Modifications Resource
1065Phosphothreonine.Swiss-Prot 53.0
1065PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
19O-linkedHMM predict
148Phosphoserine(CK1)HMM predict
200N-linkedHMM predict
239Phosphotyrosine(Syk)HMM predict
276N-linkedHMM predict
410Phosphoserine(CDC2)HMM predict
410O-linkedHMM predict
410Phosphoserine(IKK)HMM predict
429Phosphoserine(CK1)HMM predict
435Phosphoserine(IKK)HMM predict
488Phosphoserine(CK1)HMM predict
610Phosphothreonine(PKC)HMM predict
638Phosphoserine(PKG)HMM predict
660Phosphoserine(CK1)HMM predict
662Phosphoserine(CK1)HMM predict
712N-linkedHMM predict
789N-linkedHMM predict
793Phosphoserine(CK1)HMM predict
873N-linkedHMM predict
933Phosphoserine(IKK)HMM predict
945Phosphoserine(CK2)HMM predict
1016Phosphotyrosine(Jak)HMM predict
1019PhosphoserineHMM predict
1062Phosphoserine(PKG)HMM predict
1076Phosphoserine(ATM)HMM predict
1097Phosphothreonine(PKC)HMM predict
1125N-linkedHMM predict
1130N-linkedHMM predict
1148Phosphothreonine(PKC)HMM predict
1194Phosphoserine(ATM)HMM predict
1343Phosphotyrosine(INSR)HMM predict
1347N-linkedHMM predict
1365Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001008224
  • Location:chr15 68733948-68781673
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 68716087 68716486 399 17662
hScc1 BcellGSE12603 68716159 68716486 327 17626
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 68759054 68759341 287 0
CTCF CD4SISSRdata 68759054 68759341 287 0
CTCF G2GSE9613 68758914 68759199 285 0
FoxA1 MCF7MACSdata 68770336 68770603 267 0
hScc1 BcellGSE12603 68758878 68759165 287 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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