AutismKB 2.0

Annotation Detail for POMC


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Basic Information Top
Gene Symbol:POMC ( ACTH,CLIP,LPH,MSH,NPP,POC )
Gene Full Name: proopiomelanocortin
Band: 2p23.3
Quick LinksEntrez ID:5443; OMIM: 176830; Uniprot ID:COLI_HUMAN; ENSEMBL ID: ENSG00000115138; HGNC ID: 9201
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
71O-linked (HexNAc...).
87Phenylalanine amide.
91N-linked (GlcNAc...).
134Glutamic acid 1-amide.
150Valine amide.
168Phosphoserine.
Location(AA) Modifications Resource
71O-linked (HexNAc...).Swiss-Prot 53.0
71O-linkedOGlycBase6.0
87Phenylalanine amide (G-88 provides amidegroup).Swiss-Prot 53.0
91N-linked (GlcNAc...).Swiss-Prot 53.0
91N-likedOGlycBase6.0
134Glutamic acid 1-amide (G-135 providesamide group).Swiss-Prot 53.0
150Valine amide (G-151 provides amidegroup).Swiss-Prot 53.0
168Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
91N-linkedHMM predict
92Phosphoserine(PKG)HMM predict
93Phosphoserine(CDC2)HMM predict
93Phosphoserine(PKG)HMM predict
94O-linkedHMM predict
94O-linkedHMM predict
95Phosphoserine(CK1)HMM predict
98Phosphoserine(IKK)HMM predict
138Phosphoserine(PKG)HMM predict
248Phosphothreonine(MAPK)HMM predict
263Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000939
  • Location:chr2 25237225-25245062
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 25260124 25260792 668 15396
FOXA1 MCF7GSE15244 25260688 25261151 463 15857
H3K27me3 colorectalcancer 25245697 25246595 898 1084
hScc1 BcellGSE12603 25260549 25260756 207 15590
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 25229749 25230052 303 7325
CTCF G2GSE9613 25230892 25231458 566 6051
Oct1 H2O2-HelaGSE14283 25230385 25230413 28 6827
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 25242482 25242716 234 0
CTCF G2GSE9613 25242530 25242743 213 0
CTCF G2GSE9613 25244545 25245121 576 0
H3K27me3 colorectalcancer 25242901 25244219 1318 0
hScc1 BcellGSE12603 25238004 25238285 281 0
hScc1 BcellGSE12603 25242306 25242901 595 0
hScc1 BcellGSE12603 25244770 25245199 429 0
hScc1 CdLSGSE12603 25242270 25243022 752 0
hScc1 G2GSE9613 25242161 25242901 740 0
hScc1 G2GSE9613 25244545 25245199 654 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-122 hsa-mir-122 18 20960104
hsa-miR-122* hsa-mir-122 18 20960104
hsa-miR-130a hsa-mir-130a 11 19849700
hsa-miR-130a* hsa-mir-130a 11 19849700
hsa-miR-138 hsa-mir-138-2 16 21168126
hsa-miR-138 hsa-mir-138-1 3 21168126
hsa-miR-138-2* hsa-mir-138-2 16 21168126
hsa-miR-148a hsa-mir-148a 7 21168126
hsa-miR-148a* hsa-mir-148a 7 21168126
hsa-miR-200b hsa-mir-200b 1 19849700
hsa-miR-200b* hsa-mir-200b 1 19849700
hsa-miR-202 hsa-mir-202 10 21266515
hsa-miR-202* hsa-mir-202 10 21266515
hsa-miR-203 hsa-mir-203 14 19849700
hsa-miR-210 hsa-mir-210 11 19849700
hsa-miR-22 hsa-mir-22 17 21168126
hsa-miR-22* hsa-mir-22 17 21168126
hsa-miR-339-3p hsa-mir-339 7 21168126
hsa-miR-339-5p hsa-mir-339 7 21168126
hsa-miR-382 hsa-mir-382 14 19849700
hsa-miR-484 hsa-mir-484 16 19849700
hsa-miR-488 hsa-mir-488 1 21168126
hsa-miR-488* hsa-mir-488 1 21168126
hsa-miR-491-3p hsa-mir-491 9 21168126
hsa-miR-491-5p hsa-mir-491 9 21168126
hsa-miR-493 hsa-mir-493 14 20960104
hsa-miR-493* hsa-mir-493 14 20960104
No data
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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