AutismKB 2.0

Annotation Detail for UFSP2


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Basic Information Top
Gene Symbol:UFSP2 ( C4orf20,FLJ11200 )
Gene Full Name: UFM1-specific peptidase 2
Band: 4q35.1
Quick LinksEntrez ID:55325; OMIM: 611482; Uniprot ID:UFSP2_HUMAN; ENSEMBL ID: ENSG00000109775; HGNC ID: 25640
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
137Phosphotyrosine(INSR)HMM predict
139N-linkedHMM predict
210O-linkedHMM predict
250Phosphotyrosine(Syk)HMM predict
261Phosphotyrosine(Abl)HMM predict
261Phosphotyrosine(Syk)HMM predict
305S-palmitoylHMM predict
460ProlineHMM predict
461AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018359
  • Location:chr4 186558436-186584061
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 186583489 186584759 1270 63
P300 T30-glioblastomaGSE21026 186583358 186584915 1557 75
PHF8 HeLaGSE20725 186583573 186584638 1065 44
hScc1 BcellGSE12603 186584422 186584598 176 449
p130 QuiescentGSE19898 186584312 186584799 487 494
p130 SenescentGSE19898 186583718 186584731 1013 163
p130 shRbQuiescentGSE19898 186583575 186584731 1156 92
p130 shRbSenescentGSE19898 186583562 186584726 1164 83
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 186570630 186570886 256 0
H3K4me3 colorectalcancer 186583052 186583886 834 0
H3ac HepG2E 186583052 186584631 1579 0
USF2 HepG2E 186583267 186584711 1444 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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