AutismKB 2.0

Annotation Detail for POMP


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Basic Information Top
Gene Symbol:POMP ( C13orf12,PNAS-110,UMP1 )
Gene Full Name: proteasome maturation protein
Band: 13q12.3
Quick LinksEntrez ID:51371; OMIM: 613386; Uniprot ID:POMP_HUMAN; ENSEMBL ID: ENSG00000132963; HGNC ID: 20330
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
72High-affinity association with the
Location(AA) Modifications Resource
Location(AA) Modification Resource
63N-linkedHMM predict
69N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015932
  • Location:chr13 28131250-28151058
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28130970 28131494 524 19
ETS1 JurkatGSE17954 28130608 28131789 1181 52
GABP HelaGSE8489 28129926 28131006 1080 785
GABP k562GSE8489 28129596 28131200 1604 853
H3K4me2 HCT116GSE10453 28129668 28130356 688 1239
H3K4me3 colorectalcancer 28129668 28131164 1496 835
H3ac HepG2E 28130206 28131239 1033 528
NFkBII GM12878GSE19485 28112743 28114569 1826 17595
NFkBII GM12892GSE19485 28113030 28114503 1473 17484
Oct1 H2O2-HelaGSE14283 28112697 28112736 39 18534
Oct1 HelaGSE14283 28112697 28112736 39 18534
PHF8 293TGSE20725 28130571 28131831 1260 50
RNAII Tamoxifen-MCF7GSE14664 28112697 28112736 39 18534
TFAP2C MCF7GSE21234 28130971 28131365 394 83
hScc1 BcellGSE12603 28130676 28131784 1108 21
hScc1 CdLSGSE12603 28130711 28131642 931 74
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 28156592 28156752 160 5614
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 28132851 28133292 441 0
GABP k562GSE8489 28133628 28133806 178 0
H3K4me3 colorectalcancer 28131612 28132336 724 0
H3ac HepG2E 28131494 28132336 842 0
H3ac HepG2E 28132851 28133033 182 0
Myc hESGSE17917 28131149 28131517 368 0
Oct1 HelaGSE14283 28143439 28143472 33 0
Oct4 hESGSE17917 28139323 28139472 149 0
PHF8 HeLaGSE20725 28130771 28131916 1145 0
PolII HeLaGSE12783 28129988 28133258 3270 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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