AutismKB 2.0

Annotation Detail for COL9A2


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Basic Information Top
Gene Symbol:COL9A2 ( DJ39G22.4,EDM2,MED )
Gene Full Name: collagen, type IX, alpha 2
Band: 1p34.2
Quick LinksEntrez ID:1298; OMIM: 120260; Uniprot ID:CO9A2_HUMAN; ENSEMBL ID: ENSG00000049089; HGNC ID: 2218
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
169O-linked (Xyl...) (glycosaminoglycan) (By
Location(AA) Modifications Resource
169O-linked (Xyl...) (glycosaminoglycan) (Bysimilarity).Swiss-Prot 53.0
Location(AA) Modification Resource
7Phosphoserine(CDK)HMM predict
7Phosphoserine(MAPK)HMM predict
65O-linkedHMM predict
86O-linkedHMM predict
89O-linkedHMM predict
101O-linkedHMM predict
139O-linkedHMM predict
148O-linkedHMM predict
148O-linkedHMM predict
159MethylarginineHMM predict
183O-linkedHMM predict
192O-linkedHMM predict
213O-linkedHMM predict
219O-linkedHMM predict
243O-linkedHMM predict
246O-linkedHMM predict
251Phosphotyrosine(INSR)HMM predict
252O-linkedHMM predict
261O-linkedHMM predict
275MethylarginineHMM predict
279O-linkedHMM predict
294O-linkedHMM predict
297O-linkedHMM predict
300O-linkedHMM predict
314Phosphothreonine(MAPK)HMM predict
314Phosphothreonine(CDC2)HMM predict
314O-linkedHMM predict
318O-linkedHMM predict
320O-linkedHMM predict
329Phosphoserine(CDC2)HMM predict
344O-linkedHMM predict
345O-linkedHMM predict
363O-linkedHMM predict
375MethylarginineHMM predict
387O-linkedHMM predict
404MethylarginineHMM predict
408O-linkedHMM predict
426O-linkedHMM predict
429O-linkedHMM predict
431Phosphoserine(CDC2)HMM predict
431O-linkedHMM predict
453O-linkedHMM predict
456O-linkedHMM predict
459O-linkedHMM predict
465O-linkedHMM predict
476Phosphotyrosine(INSR)HMM predict
480O-linkedHMM predict
480O-linkedHMM predict
498MethylarginineHMM predict
504MethylarginineHMM predict
512MethylarginineHMM predict
597O-linkedHMM predict
599O-linkedHMM predict
603O-linkedHMM predict
611MethylarginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001852
  • Location:chr1 40538749-40555525
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 40556001 40556418 417 684
H3K27me3 colorectalcancer 40556981 40557429 448 1680
Rb GrowingGSE19898 40556052 40556208 156 605
Rb GrowingGSE19898 40556308 40556500 192 879
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 40537927 40538326 399 623
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 40553530 40553829 299 0
CTCF CD4SISSRdata 40553530 40553829 299 0
CTCF HelaGSE12889 40553624 40553850 226 0
CTCF JurkatGSE12889 40553475 40553827 352 0
CTCF G2GSE9613 40541914 40542300 386 0
CTCF G2GSE9613 40549145 40549619 474 0
CTCF G2GSE9613 40553336 40554458 1122 0
CTCF G2GSE9613 40555113 40555642 529 0
FoxA1 MCF7MACSdata 40544506 40544829 323 0
H3ac HepG2E 40552371 40553370 999 0
Myc K562GSE19551 40553405 40553962 557 0
Oct1 H2O2-HelaGSE14283 40541286 40541323 37 0
hScc1 BcellGSE12603 40540890 40541302 412 0
hScc1 BcellGSE12603 40541813 40542262 449 0
hScc1 BcellGSE12603 40549478 40549854 376 0
hScc1 BcellGSE12603 40553264 40553988 724 0
hScc1 BcellGSE12603 40554386 40556036 1650 0
hScc1 CdLSGSE12603 40553370 40553988 618 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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