AutismKB 2.0

Annotation Detail for FRMPD2


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Basic Information Top
Gene Symbol:FRMPD2 ( MGC178184,MGC178187,MGC35285,MGC87776,MGC87777,MGC90186,PDZD5C,PDZK4,PDZK5C )
Gene Full Name: FERM and PDZ domain containing 2
Band: 10q11.22
Quick LinksEntrez ID:143162; OMIM: 613323; Uniprot ID:FRPD2_HUMAN; ENSEMBL ID: ENSG00000170324; HGNC ID: 28572
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001018071
  • Location:chr10 49034613-49152722
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 49167736 49167968 232 15130
CTCF CD4SISSRdata 49167736 49167968 232 15130
CTCF JurkatGSE12889 49167796 49167954 158 15153
ER MCF7GSE19013 49165872 49166604 732 13516
RARA MCF7GSE15244 49164922 49166829 1907 13153
RARG MCF7GSE15244 49165786 49166797 1011 13569
TFAP2C MCF7GSE21234 49165712 49166907 1195 13587
hScc1 BcellGSE12603 49167644 49167943 299 15071
hScc1 CdLSGSE12603 49167608 49167943 335 15053
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 49093645 49093802 157 0
CTCF CD4SISSRdata 49093645 49093802 157 0
H3ac HepG2E 49135645 49136039 394 0
KLF4 hESGSE17917 49129877 49130051 174 0
Nanog hESGSE18292 49086152 49086561 409 0
Oct1 HelaGSE14283 49063636 49063664 28 0
Oct1 HelaGSE14283 49119754 49119845 91 0
TFAP2C MCF7GSE21234 49067243 49067710 467 0
TFAP2C MCF7GSE21234 49093466 49094125 659 0
hScc1 BcellGSE12603 49093404 49093844 440 0
hScc1 BcellGSE12603 49102109 49102480 371 0
hScc1 BcellGSE12603 49124256 49124666 410 0
hScc1 CdLSGSE12603 49093463 49093844 381 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