AutismKB 2.0

Annotation Detail for COL19A1


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Basic Information Top
Gene Symbol:COL19A1 ( COL9A1L,D6S228E )
Gene Full Name: collagen, type XIX, alpha 1
Band: 6q13
Quick LinksEntrez ID:1310; OMIM: 120165; Uniprot ID:COJA1_HUMAN; ENSEMBL ID: ENSG00000082293; HGNC ID: 2196
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
954Cell attachment site (Potential).
Location(AA) Modifications Resource
Location(AA) Modification Resource
25O-linkedHMM predict
25Phosphothreonine(PKC)HMM predict
101Phosphoserine(IKK)HMM predict
197Phosphothreonine(PKA)HMM predict
216Phosphoserine(PKC)HMM predict
291O-linkedHMM predict
306O-linkedHMM predict
309O-linkedHMM predict
327O-linkedHMM predict
335O-linkedHMM predict
336O-linkedHMM predict
339O-linkedHMM predict
342O-linkedHMM predict
348O-linkedHMM predict
363O-linkedHMM predict
375O-linkedHMM predict
378O-linkedHMM predict
381O-linkedHMM predict
408MethylarginineHMM predict
414O-linkedHMM predict
458O-linkedHMM predict
461O-linkedHMM predict
464O-linkedHMM predict
476O-linkedHMM predict
479O-linkedHMM predict
488O-linkedHMM predict
491O-linkedHMM predict
502Phosphoserine(ATM)HMM predict
506O-linkedHMM predict
524O-linkedHMM predict
529Phosphoserine(IKK)HMM predict
557O-linkedHMM predict
560O-linkedHMM predict
576O-linkedHMM predict
605O-linkedHMM predict
616Phosphoserine(ATM)HMM predict
630MethylarginineHMM predict
631O-linkedHMM predict
657Phosphothreonine(MAPK)HMM predict
657Phosphothreonine(CDC2)HMM predict
710O-linkedHMM predict
722Phosphotyrosine(INSR)HMM predict
722Phosphotyrosine(SRC)HMM predict
742MethylarginineHMM predict
746O-linkedHMM predict
748O-linkedHMM predict
749O-linkedHMM predict
754Phosphotyrosine(EGFR)HMM predict
761O-linkedHMM predict
779O-linkedHMM predict
788O-linkedHMM predict
794O-linkedHMM predict
797O-linkedHMM predict
800O-linkedHMM predict
802O-linkedHMM predict
850O-linkedHMM predict
874O-linkedHMM predict
889O-linkedHMM predict
889O-linkedHMM predict
922O-linkedHMM predict
949O-linkedHMM predict
973O-linkedHMM predict
976O-linkedHMM predict
988O-linkedHMM predict
990O-linkedHMM predict
1002O-linkedHMM predict
1002Phosphoserine(CDC2)HMM predict
1002Phosphoserine(ATM)HMM predict
1014Phosphoserine(CK2)HMM predict
1080O-linkedHMM predict
1093Phosphoserine(CDC2)HMM predict
1093Phosphoserine(CDK)HMM predict
1100O-linkedHMM predict
1107Phosphoserine(CDC2)HMM predict
1107Phosphoserine(CDK)HMM predict
1107PhosphoserineHMM predict
1107Phosphoserine(ATM)HMM predict
1120O-linkedHMM predict
1128CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001858
  • Location:chr6 70633168-70978877
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 70616358 70616585 227 16697
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 70870544 70870678 134 0
CTCF CD4GSE12889 70874966 70875149 183 0
CTCF CD4GSE12889 70933050 70933234 184 0
CTCF CD4SISSRdata 70870544 70870678 134 0
CTCF CD4SISSRdata 70874966 70875149 183 0
CTCF CD4SISSRdata 70933050 70933234 184 0
CTCF HelaGSE12889 70932919 70933268 349 0
CTCF G2GSE9613 70634020 70634355 335 0
CTCF G2GSE9613 70870287 70870780 493 0
CTCF G2GSE9613 70933069 70933313 244 0
ER E2-MCF7GSE14664 70656659 70656752 93 0
ER E2-MCF7GSE14664 70669579 70669612 33 0
ER E2-MCF7GSE14664 70863042 70863077 35 0
ER E2-MCF7GSE14664 70956061 70956093 32 0
ER Fulvestrant-MCF7GSE14664 70724108 70724144 36 0
ER Fulvestrant-MCF7GSE14664 70863042 70863074 32 0
ER Fulvestrant-MCF7GSE14664 70871775 70871812 37 0
ER Fulvestrant-MCF7GSE14664 70934683 70934716 33 0
ER Fulvestrant-MCF7GSE14664 70962161 70962195 34 0
H3K27me3 colorectalcancer 70633468 70635578 2110 0
H3K4me3 colorectalcancer 70632809 70634649 1840 0
Oct1 H2O2-HelaGSE14283 70669580 70669615 35 0
Oct1 H2O2-HelaGSE14283 70724118 70724144 26 0
Oct1 H2O2-HelaGSE14283 70740019 70740061 42 0
Oct1 H2O2-HelaGSE14283 70852953 70852982 29 0
Oct1 H2O2-HelaGSE14283 70861863 70861906 43 0
Oct1 H2O2-HelaGSE14283 70862297 70862327 30 0
Oct1 H2O2-HelaGSE14283 70871778 70871810 32 0
Oct1 H2O2-HelaGSE14283 70897558 70897586 28 0
Oct1 H2O2-HelaGSE14283 70934683 70934716 33 0
Oct1 H2O2-HelaGSE14283 70936102 70936138 36 0
Oct1 H2O2-HelaGSE14283 70938371 70938404 33 0
Oct1 H2O2-HelaGSE14283 70977018 70977066 48 0
Oct1 HelaGSE14283 70669579 70669611 32 0
Oct1 HelaGSE14283 70724114 70724145 31 0
Oct1 HelaGSE14283 70740019 70740057 38 0
Oct1 HelaGSE14283 70861863 70861907 44 0
Oct1 HelaGSE14283 70862293 70862334 41 0
Oct1 HelaGSE14283 70863043 70863078 35 0
Oct1 HelaGSE14283 70871775 70871814 39 0
Oct1 HelaGSE14283 70891180 70891209 29 0
Oct1 HelaGSE14283 70897557 70897589 32 0
Oct1 HelaGSE14283 70923400 70923434 34 0
Oct1 HelaGSE14283 70934679 70934713 34 0
Oct1 HelaGSE14283 70936098 70936145 47 0
Oct1 HelaGSE14283 70938369 70938409 40 0
Oct1 HelaGSE14283 70977018 70977067 49 0
P300 T30-glioblastomaGSE21026 70661134 70661767 633 0
TFAP2C MCF7GSE21234 70661198 70661658 460 0
hScc1 BcellGSE12603 70633809 70634577 768 0
hScc1 CdLSGSE12603 70874587 70875292 705 0
hScc1 CdLSGSE12603 70932579 70933529 950 0
hScc1 G2GSE9613 70933032 70933388 356 0
p63 keratinocytesGSE17611 70660879 70661865 986 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-574-5p hsa-mir-574 4 21268075
hsa-miR-574-5p hsa-mir-574 4 21104817
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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