AutismKB 2.0

Annotation Detail for COL22A1


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Basic Information Top
Gene Symbol:COL22A1 ( - )
Gene Full Name: collagen, type XXII, alpha 1
Band: 8q24.23-q24.3
Quick LinksEntrez ID:169044; OMIM: 610026; Uniprot ID:COMA1_HUMAN; ENSEMBL ID: ENSG00000169436; HGNC ID: 22989
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
375N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152888
  • Location:chr8 139669660-139995417
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
STAT1 HeLaGSE12782 139996479 139997695 1216 1670
STAT1 HeLaGSE12783 139996510 139997661 1151 1668
TAF HelaGSE8489 140015078 140015252 174 19748
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 139916077 139917319 1242 0
CTCF CD4GSE12889 139768048 139768292 244 0
CTCF CD4GSE12889 139808870 139809126 256 0
CTCF CD4GSE12889 139849106 139849314 208 0
CTCF CD4SISSRdata 139768048 139768292 244 0
CTCF CD4SISSRdata 139808870 139809126 256 0
CTCF CD4SISSRdata 139849106 139849314 208 0
CTCF HelaGSE12889 139808829 139809183 354 0
CTCF HelaGSE12889 139942899 139943074 175 0
CTCF JurkatGSE12889 139768035 139768341 306 0
CTCF JurkatGSE12889 139808796 139809212 416 0
FOXA1 DLD1GSE12801 139872683 139873347 664 0
FOXA1 MCF7GSE15244 139872720 139873032 312 0
FOXA1 MCF7GSE15244 139933032 139933606 574 0
FOXA1 MCF7GSE15244 139950783 139950925 142 0
FOXA1 MCF7GSE15244 139957509 139958221 712 0
H3K27me3 colorectalcancer 139994199 139995363 1164 0
KLF4 hESGSE17917 139958905 139959199 294 0
NRSF JurkatGSE13047 139709871 139710226 355 0
NRSF JurkatGSE13047 139723239 139723855 616 0
NRSF JurkatGSE13047 139761601 139762247 646 0
NRSF JurkatGSE13047 139817078 139817755 677 0
NRSF JurkatGSE13047 139869892 139871598 1706 0
NRSF JurkatGSE13047 139898707 139899280 573 0
NRSF JurkatSISSRdata 139709787 139710178 391 0
NRSF JurkatSISSRdata 139817196 139817529 333 0
NRSF mAbJurkat 139705442 139706946 1504 0
NRSF mAbJurkat 139707373 139709666 2293 0
NRSF mAbJurkat 139709989 139710160 171 0
NRSF mAbJurkat 139711464 139712218 754 0
NRSF mAbJurkat 139866617 139868023 1406 0
NRSF mAbJurkat 139868485 139871476 2991 0
NRSF mAbJurkat 139871860 139874073 2213 0
NRSF mAbJurkat 139874493 139875489 996 0
NRSF-mono JurkatQuESTdata 139709870 139710196 326 0
NRSF-mono JurkatQuESTdata 139711218 139711418 200 0
NRSF-mono JurkatQuESTdata 139723238 139723854 616 0
NRSF-mono JurkatQuESTdata 139761648 139762334 686 0
NRSF-mono JurkatQuESTdata 139817077 139817627 550 0
NRSF-mono JurkatQuESTdata 139869547 139869763 216 0
NRSF-mono JurkatQuESTdata 139870231 139871553 1322 0
NRSF-mono JurkatQuESTdata 139872498 139872912 414 0
NRSF-mono JurkatQuESTdata 139898815 139899200 385 0
NRSF pAbJurkat 139708358 139709244 886 0
NRSF pAbJurkat 139809740 139810024 284 0
NRSF pAbJurkat 139812751 139812942 191 0
NRSF pAbJurkat 139847522 139847858 336 0
NRSF pAbJurkat 139868485 139869494 1009 0
NRSF pAbJurkat 139869843 139871049 1206 0
NRSF pAbJurkat 139871860 139872372 512 0
NRSF pAbJurkat 139872821 139873177 356 0
NRSF pAbJurkat 139896984 139897919 935 0
NRSF pAbJurkat 139933486 139933679 193 0
NRSF pAbJurkat 139938339 139938982 643 0
NRSF pAbJurkat 139952394 139952758 364 0
NRSF pAbJurkat 139964310 139964696 386 0
NRSF-poly JurkatQuESTdata 139709924 139710242 318 0
NRSF-poly JurkatQuESTdata 139711123 139711396 273 0
NRSF-poly JurkatQuESTdata 139723312 139723865 553 0
NRSF-poly JurkatQuESTdata 139761832 139762268 436 0
NRSF-poly JurkatQuESTdata 139817158 139817755 597 0
NRSF-poly JurkatQuESTdata 139870312 139871203 891 0
NRSF-poly JurkatQuESTdata 139898707 139899341 634 0
RARG MCF7GSE15244 139767604 139767790 186 0
Stat6 IL-4-hr4GSE17850 139962150 139962793 643 0
TAF HelaGSE8489 139946418 139946725 307 0
TFAP2C MCF7GSE21234 139811165 139811511 346 0
TFAP2C MCF7GSE21234 139969132 139969453 321 0
hScc1 BcellGSE12603 139767604 139768340 736 0
hScc1 BcellGSE12603 139808754 139809275 521 0
hScc1 BcellGSE12603 139848726 139849736 1010 0
hScc1 BcellGSE12603 139853307 139853559 252 0
hScc1 BcellGSE12603 139875265 139875489 224 0
hScc1 BcellGSE12603 139959103 139959446 343 0
hScc1 BcellGSE12603 139963134 139963632 498 0
hScc1 BcellGSE12603 139964310 139964545 235 0
hScc1 CdLSGSE12603 139767826 139768340 514 0
hScc1 CdLSGSE12603 139808789 139809275 486 0
hScc1 CdLSGSE12603 139848694 139849630 936 0
hScc1 G2GSE9613 139767604 139768340 736 0
hScc1 G2GSE9613 139808754 139809421 667 0
hScc1 G2GSE9613 139848652 139849875 1223 0
p63 keratinocytesGSE17611 139936923 139938517 1594 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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