AutismKB 2.0

Annotation Detail for COL4A1


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Basic Information Top
Gene Symbol:COL4A1 ( arresten )
Gene Full Name: collagen, type IV, alpha 1
Band: 13q34
Quick LinksEntrez ID:1282; OMIM: 120130; Uniprot ID:CO4A1_HUMAN; ENSEMBL ID: ENSG00000187498; HGNC ID: 2202
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
126N-linked (GlcNAc...).
Location(AA) Modifications Resource
126N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
45O-linkedHMM predict
48O-linkedHMM predict
78O-linkedHMM predict
81O-linkedHMM predict
89O-linkedHMM predict
90O-linkedHMM predict
92O-linkedHMM predict
99O-linkedHMM predict
99O-linkedHMM predict
126N-linkedHMM predict
128O-linkedHMM predict
129O-linkedHMM predict
156O-linkedHMM predict
172O-linkedHMM predict
217O-linkedHMM predict
228O-linkedHMM predict
231O-linkedHMM predict
237O-linkedHMM predict
257O-linkedHMM predict
260O-linkedHMM predict
263O-linkedHMM predict
277O-linkedHMM predict
286MethylarginineHMM predict
295O-linkedHMM predict
298O-linkedHMM predict
300O-linkedHMM predict
300Phosphoserine(CDC2)HMM predict
322O-linkedHMM predict
343O-linkedHMM predict
348Phosphotyrosine(EGFR)HMM predict
351Phosphothreonine(MAPK)HMM predict
355MethylarginineHMM predict
361O-linkedHMM predict
393O-linkedHMM predict
396MethylarginineHMM predict
402O-linkedHMM predict
407O-linkedHMM predict
409MethylarginineHMM predict
418O-linkedHMM predict
418Phosphoserine(CDC2)HMM predict
418Phosphoserine(CDK)HMM predict
418Phosphoserine(ATM)HMM predict
427Phosphotyrosine(INSR)HMM predict
460O-linkedHMM predict
463O-linkedHMM predict
475Phosphotyrosine(Syk)HMM predict
497O-linkedHMM predict
500MethylarginineHMM predict
527O-linkedHMM predict
543O-linkedHMM predict
555O-linkedHMM predict
555Phosphothreonine(PKC)HMM predict
557MethylarginineHMM predict
560Phosphoserine(CDC2)HMM predict
563MethylarginineHMM predict
573O-linkedHMM predict
575O-linkedHMM predict
575Phosphoserine(CDC2)HMM predict
582O-linkedHMM predict
600O-linkedHMM predict
608Phosphotyrosine(INSR)HMM predict
617O-linkedHMM predict
628O-linkedHMM predict
628Phosphoserine(CDC2)HMM predict
628Phosphoserine(CDK)HMM predict
635O-linkedHMM predict
656O-linkedHMM predict
656Phosphoserine(CDC2)HMM predict
656Phosphoserine(CDK)HMM predict
666MethylarginineHMM predict
671Phosphothreonine(CDC2)HMM predict
674MethylarginineHMM predict
681O-linkedHMM predict
698O-linkedHMM predict
712Phosphothreonine(CDC2)HMM predict
712Phosphothreonine(MAPK)HMM predict
712Phosphothreonine(CDK)HMM predict
715MethylarginineHMM predict
731O-linkedHMM predict
742O-linkedHMM predict
753O-linkedHMM predict
753Phosphothreonine(MAPK)HMM predict
757O-linkedHMM predict
759O-linkedHMM predict
792O-linkedHMM predict
792Phosphoserine(ATM)HMM predict
792Phosphoserine(IKK)HMM predict
795O-linkedHMM predict
795Phosphoserine(CDC2)HMM predict
819O-linkedHMM predict
825O-linkedHMM predict
828O-linkedHMM predict
842O-linkedHMM predict
845O-linkedHMM predict
854O-linkedHMM predict
857O-linkedHMM predict
877O-linkedHMM predict
878O-linkedHMM predict
892O-linkedHMM predict
892Phosphoserine(CDC2)HMM predict
905O-linkedHMM predict
914O-linkedHMM predict
923O-linkedHMM predict
926O-linkedHMM predict
950O-linkedHMM predict
956O-linkedHMM predict
965O-linkedHMM predict
967O-linkedHMM predict
992O-linkedHMM predict
998O-linkedHMM predict
998O-linkedHMM predict
1010O-linkedHMM predict
1012O-linkedHMM predict
1021Phosphothreonine(CDC2)HMM predict
1021Phosphothreonine(MAPK)HMM predict
1025O-linkedHMM predict
1036O-linkedHMM predict
1036O-linkedHMM predict
1043O-linkedHMM predict
1046O-linkedHMM predict
1049O-linkedHMM predict
1066O-linkedHMM predict
1077Phosphoserine(CDC2)HMM predict
1077Phosphoserine(CDK)HMM predict
1081O-linkedHMM predict
1084O-linkedHMM predict
1086O-linkedHMM predict
1099O-linkedHMM predict
1101O-linkedHMM predict
1101Phosphoserine(CDC2)HMM predict
1110O-linkedHMM predict
1110Phosphoserine(CDK)HMM predict
1117O-linkedHMM predict
1120O-linkedHMM predict
1132O-linkedHMM predict
1140O-linkedHMM predict
1140Phosphothreonine(CDC2)HMM predict
1140Phosphothreonine(MAPK)HMM predict
1144O-linkedHMM predict
1150O-linkedHMM predict
1155Phosphoserine(ATM)HMM predict
1165O-linkedHMM predict
1182O-linkedHMM predict
1185O-linkedHMM predict
1187O-linkedHMM predict
1188O-linkedHMM predict
1199Phosphoserine(CDC2)HMM predict
1199Phosphoserine(ATM)HMM predict
1205O-linkedHMM predict
1206O-linkedHMM predict
1226Phosphoserine(CDC2)HMM predict
1226Phosphoserine(ATM)HMM predict
1235O-linkedHMM predict
1265O-linkedHMM predict
1268O-linkedHMM predict
1283O-linkedHMM predict
1297Phosphoserine(CDC2)HMM predict
1303O-linkedHMM predict
1304O-linkedHMM predict
1319O-linkedHMM predict
1328O-linkedHMM predict
1340O-linkedHMM predict
1356O-linkedHMM predict
1371O-linkedHMM predict
1380O-linkedHMM predict
1407O-linkedHMM predict
1416O-linkedHMM predict
1419MethylarginineHMM predict
1498Phosphoserine(PKA)HMM predict
1519SulfotyrosineHMM predict
1600Phosphoserine(MAPK)HMM predict
1603Phosphoserine(IKK)HMM predict
1646Phosphothreonine(PKA)HMM predict
1667ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001845
  • Location:chr13 109599311-109757458
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 109757273 109757717 444 37
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 109587979 109589162 1183 10741
CTCF G2GSE9613 109587037 109587282 245 12152
CTCF G2GSE9613 109588809 109589203 394 10306
ER Fulvestrant-MCF7GSE14664 109582469 109582517 48 16819
Oct1 HelaGSE14283 109582475 109582573 98 16788
P300 T30-glioblastomaGSE21026 109587972 109589405 1433 10623
SRF HelaGSE8489 109587878 109588578 700 11084
hScc1 CdLSGSE12603 109587907 109588334 427 11191
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 109672599 109672838 239 0
CTCF CD4SISSRdata 109672599 109672838 239 0
CTCF HelaGSE12889 109672536 109672821 285 0
CTCF G2GSE9613 109672212 109672763 551 0
CTCF G2GSE9613 109681050 109681385 335 0
CTCF G2GSE9613 109699156 109699383 227 0
CTCF G2GSE9613 109701585 109702085 500 0
CTCF G2GSE9613 109717285 109717510 225 0
CTCF G2GSE9613 109725048 109725336 288 0
FOXA1 MCF7GSE15244 109755558 109756066 508 0
H3K27me3 colorectalcancer 109752248 109754717 2469 0
NRSF JurkatGSE13047 109717283 109717928 645 0
NRSF mAbJurkat 109717285 109717675 390 0
NRSF-mono JurkatQuESTdata 109717282 109717835 553 0
NRSF-poly JurkatQuESTdata 109717312 109717903 591 0
Nanog ESGSE20650 109605547 109605923 376 0
Oct1 H2O2-HelaGSE14283 109670012 109670054 42 0
Oct1 HelaGSE14283 109639950 109639985 35 0
Oct1 HelaGSE14283 109670012 109670054 42 0
Oct1 HelaGSE14283 109741860 109741920 60 0
RARA MCF7GSE15244 109604913 109605373 460 0
RARG MCF7GSE15244 109716592 109716955 363 0
Sox2 hESGSE18292 109697961 109698163 202 0
hScc1 BcellGSE12603 109632913 109633259 346 0
hScc1 BcellGSE12603 109672249 109672763 514 0
hScc1 BcellGSE12603 109725016 109725336 320 0
hScc1 BcellGSE12603 109737731 109737977 246 0
hScc1 BcellGSE12603 109756719 109756987 268 0
hScc1 CdLSGSE12603 109672212 109672763 551 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-192 hsa-mir-192 11 21389977
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-29a hsa-mir-29a 7 20067797
hsa-miR-29a hsa-mir-29a 7 18390668
hsa-miR-29a* hsa-mir-29a 7 20067797
hsa-miR-29a* hsa-mir-29a 7 18390668
hsa-miR-29b hsa-mir-29b-1 7 20657750
hsa-miR-29b hsa-mir-29b-2 1 20657750
hsa-miR-29b hsa-mir-29b-1 7 19956414
hsa-miR-29b hsa-mir-29b-2 1 19956414
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
hsa-miR-574-5p hsa-mir-574 4 21268075
hsa-miR-574-5p hsa-mir-574 4 21104817
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
591 Unknown TRUE miR-29c COL1A1 Luciferase assay 18390668
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000187498 nasopharyngeal epithelium nasopharyngeal carcinomas (NPC) down regulated n_a malignant tumour
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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