AutismKB 2.0

Annotation Detail for COL28A1


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Basic Information Top
Gene Symbol:COL28A1 ( COL28 )
Gene Full Name: collagen, type XXVIII, alpha 1
Band: 7p21.3
Quick LinksEntrez ID:340267; OMIM: 609996; Uniprot ID:COSA1_HUMAN; ENSEMBL ID: ENSG00000215018; HGNC ID: 22442
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_001037763
  • Location:chr7 7364768-7541984
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7547778 7548067 289 5938
hScc1 BcellGSE12603 7547703 7548114 411 5924
hScc1 CdLSGSE12603 7547517 7548114 597 5831
hScc1 G2GSE9613 7547740 7548114 374 5943
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 7360668 7361295 627 3787
TFAP2C MCF7GSE21234 7360829 7361279 450 3715
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7430479 7431004 525 0
ER Fulvestrant-MCF7GSE14664 7429111 7429145 34 0
ER MCF7GSE19013 7425445 7426343 898 0
FOXA1 MCF7GSE15244 7401784 7402503 719 0
FOXA1 MCF7GSE15244 7535464 7536019 555 0
Nanog hESGSE18292 7430607 7430883 276 0
Oct1 H2O2-HelaGSE14283 7432719 7432747 28 0
P300 T30-glioblastomaGSE21026 7444917 7445583 666 0
P300 T30-glioblastomaGSE21026 7498357 7499115 758 0
PAX3-FKHR Rh4GSE19063 7380268 7382617 2349 0
RARA MCF7GSE15244 7498768 7499048 280 0
TFAP2C MCF7GSE21234 7422156 7422816 660 0
hScc1 BcellGSE12603 7430409 7431076 667 0
hScc1 BcellGSE12603 7507772 7508031 259 0
hScc1 CdLSGSE12603 7430373 7431004 631 0
hScc1 CdLSGSE12603 7500749 7501174 425 0
hScc1 G2GSE9613 7430409 7431154 745 0
p63 keratinocytesGSE17611 7452718 7453421 703 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