AutismKB 2.0

Annotation Detail for COL1A2


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Basic Information Top
Gene Symbol:COL1A2 ( OI4 )
Gene Full Name: collagen, type I, alpha 2
Band: 7q21.3
Quick LinksEntrez ID:1278; OMIM: 120160; Uniprot ID:CO1A2_HUMAN; ENSEMBL ID: ENSG00000164692; HGNC ID: 2198
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
80Pyrrolidone carboxylic acid (By
84Allysine.
420Hydroxyproline.
441Hydroxyproline.
444Hydroxyproline.
1267N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
80Pyrrolidone carboxylic acid (Bysimilarity).Swiss-Prot 53.0
84Allysine.Swiss-Prot 53.0
420Hydroxyproline.Swiss-Prot 53.0
441Hydroxyproline.Swiss-Prot 53.0
444Hydroxyproline.Swiss-Prot 53.0
1267N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
52MethylarginineHMM predict
59O-linkedHMM predict
59O-linkedHMM predict
126O-linkedHMM predict
132MethylarginineHMM predict
165MethylarginineHMM predict
177O-linkedHMM predict
189O-linkedHMM predict
198O-linkedHMM predict
207N-linkedHMM predict
209Phosphothreonine(CDC2)HMM predict
213O-linkedHMM predict
234MethylarginineHMM predict
239O-linkedHMM predict
251O-linkedHMM predict
264O-linkedHMM predict
291O-linkedHMM predict
291O-linkedHMM predict
306O-linkedHMM predict
309O-linkedHMM predict
327MethylarginineHMM predict
339O-linkedHMM predict
353O-linkedHMM predict
354O-linkedHMM predict
357O-linkedHMM predict
360O-linkedHMM predict
365O-linkedHMM predict
375O-linkedHMM predict
389O-linkedHMM predict
399MethylarginineHMM predict
401Phosphoserine(CDC2)HMM predict
401Phosphoserine(CDK)HMM predict
405MethylarginineHMM predict
422O-linkedHMM predict
423MethylarginineHMM predict
426O-linkedHMM predict
426Phosphoserine(PKB)HMM predict
450MethylarginineHMM predict
455Phosphoserine(CDC2)HMM predict
498O-linkedHMM predict
501O-linkedHMM predict
510O-linkedHMM predict
543O-linkedHMM predict
561O-linkedHMM predict
561O-linkedHMM predict
588MethylarginineHMM predict
597O-linkedHMM predict
603O-linkedHMM predict
608O-linkedHMM predict
609MethylarginineHMM predict
612O-linkedHMM predict
612Phosphoserine(PKA)HMM predict
612Phosphoserine(ATM)HMM predict
612Phosphoserine(PKB)HMM predict
621O-linkedHMM predict
636O-linkedHMM predict
636O-linkedHMM predict
639O-linkedHMM predict
639O-linkedHMM predict
654O-linkedHMM predict
657O-linkedHMM predict
675MethylarginineHMM predict
690O-linkedHMM predict
710Phosphoserine(CDC2)HMM predict
738O-linkedHMM predict
744O-linkedHMM predict
747O-linkedHMM predict
756O-linkedHMM predict
776O-linkedHMM predict
786O-linkedHMM predict
794MethylarginineHMM predict
795O-linkedHMM predict
801O-linkedHMM predict
801O-linkedHMM predict
804O-linkedHMM predict
804O-linkedHMM predict
831O-linkedHMM predict
846O-linkedHMM predict
849O-linkedHMM predict
860O-linkedHMM predict
860Phosphothreonine(CDC2)HMM predict
860Phosphothreonine(MAPK)HMM predict
914O-linkedHMM predict
945O-linkedHMM predict
984O-linkedHMM predict
984O-linkedHMM predict
999O-linkedHMM predict
999Phosphoserine(PKB)HMM predict
1008O-linkedHMM predict
1014O-linkedHMM predict
1017MethylarginineHMM predict
1023O-linkedHMM predict
1046O-linkedHMM predict
1053MethylarginineHMM predict
1059O-linkedHMM predict
1068O-linkedHMM predict
1108Phosphotyrosine(INSR)HMM predict
1127Phosphoserine(CDK)HMM predict
1133Phosphotyrosine(Syk)HMM predict
1151Phosphothreonine(MAPK)HMM predict
1151PhosphothreonineHMM predict
1162Phosphothreonine(PKC)HMM predict
1265Phosphoserine(ATM)HMM predict
1267N-linkedHMM predict
1278Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000089
  • Location:chr7 93861808-93898479
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 93860839 93861289 450 745
NRSF JurkatGSE13047 93861482 93861910 428 113
NRSF JurkatSISSRdata 93861448 93861830 382 170
NRSF-mono JurkatQuESTdata 93861459 93861855 396 152
P300 T30-glioblastomaGSE21026 93840805 93844048 3243 19382
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 93903173 93903656 483 4935
hScc1 BcellGSE12603 93903245 93903598 353 4942
hScc1 BcellGSE12603 93916489 93916892 403 18211
hScc1 CdLSGSE12603 93903245 93903656 411 4971
hScc1 CdLSGSE12603 93916489 93916892 403 18211
hScc1 G2GSE9613 93903136 93903656 520 4917
hScc1 G2GSE9613 93916432 93916892 460 18183
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 93862807 93862947 140 0
CTCF CD4SISSRdata 93862807 93862947 140 0
CTCF G2GSE9613 93862099 93862317 218 0
CTCF G2GSE9613 93862633 93863402 769 0
NRSF-poly JurkatQuESTdata 93861609 93862223 614 0
STAT1 HeLaGSE12782 93863326 93864519 1193 0
STAT1 HeLaGSE12783 93863389 93864485 1096 0
hScc1 BcellGSE12603 93862317 93863105 788 0
hScc1 CdLSGSE12603 93862633 93863132 499 0
hScc1 G2GSE9613 93861981 93863402 1421 0
p130 QuiescentGSE19898 93861473 93863289 1816 0
p130 shRbQuiescentGSE19898 93862112 93862986 874 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7g hsa-let-7g 3 20338660
hsa-let-7g* hsa-let-7g 3 20338660
hsa-miR-135a hsa-mir-135a-1 3 18723672
hsa-miR-135a hsa-mir-135a-2 12 18723672
hsa-miR-192 hsa-mir-192 11 17360662
hsa-miR-192 hsa-mir-192 11 21389977
hsa-miR-192* hsa-mir-192 11 17360662
hsa-miR-192* hsa-mir-192 11 21389977
hsa-miR-200b hsa-mir-200b 1 21389977
hsa-miR-200b* hsa-mir-200b 1 21389977
hsa-miR-200c hsa-mir-200c 12 21389977
hsa-miR-200c* hsa-mir-200c 12 21389977
hsa-miR-215 hsa-mir-215 1 17360662
hsa-miR-216a hsa-mir-216a 2 20713358
hsa-miR-29a hsa-mir-29a 7 18390668
hsa-miR-29a hsa-mir-29a 7 18723672
hsa-miR-29a* hsa-mir-29a 7 18390668
hsa-miR-29a* hsa-mir-29a 7 18723672
hsa-miR-29b hsa-mir-29b-1 7 19956414
hsa-miR-29b hsa-mir-29b-2 1 19956414
hsa-miR-29b hsa-mir-29b-1 7 18723672
hsa-miR-29b hsa-mir-29b-2 1 18723672
hsa-miR-29b-1* hsa-mir-29b-1 7 19956414
hsa-miR-29c hsa-mir-29c 1 18390668
hsa-miR-29c* hsa-mir-29c 1 18390668
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
595 Unknown TRUE miR-29c COL1A2 Luciferase assay 18390668
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000164692 nasopharyngeal epithelium nasopharyngeal carcinomas (NPC) down regulated muscle cell "benign tumour, malignant tumour, carcinoma, sarcoma"
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