AutismKB 2.0

Annotation Detail for COL12A1


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Basic Information Top
Gene Symbol:COL12A1 ( BA209D8.1,COL12A1L,DJ234P15.1 )
Gene Full Name: collagen, type XII, alpha 1
Band: 6q13-q14.1
Quick LinksEntrez ID:1303; OMIM: 120320; Uniprot ID:COCA1_HUMAN; ENSEMBL ID: ENSG00000111799; HGNC ID: 2188
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
700N-linked (GlcNAc...) (Potential).
798O-linked (Xyl...) (chondroitin sulfate)
864Cell attachment site (Potential).
889O-linked (Xyl...) (chondroitin sulfate)
981O-linked (Xyl...) (chondroitin sulfate)
1763N-linked (GlcNAc...) (Potential).
2206N-linked (GlcNAc...) (Potential).
2528N-linked (GlcNAc...).
2679N-linked (GlcNAc...).
2781Cell attachment site (Potential).
2897Cell attachment site (Potential).
29444-hydroxyproline (By similarity).
29474-hydroxyproline (By similarity).
29504-hydroxyproline (By similarity).
29594-hydroxyproline (By similarity).
29654-hydroxyproline (By similarity).
29684-hydroxyproline (By similarity).
29714-hydroxyproline (By similarity).
29834-hydroxyproline (By similarity).
30004-hydroxyproline (By similarity).
30034-hydroxyproline (By similarity).
30144-hydroxyproline (By similarity).
30234-hydroxyproline (By similarity).
30264-hydroxyproline (By similarity).
30294-hydroxyproline (By similarity).
Location(AA) Modifications Resource
700N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
798O-linked (Xyl...) (chondroitin sulfate)(Potential).Swiss-Prot 53.0
889O-linked (Xyl...) (chondroitin sulfate)(Potential).Swiss-Prot 53.0
981O-linked (Xyl...) (chondroitin sulfate)(Potential).Swiss-Prot 53.0
1763N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2206N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2528N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2679N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2944Hydroxyproline (By similarity).Swiss-Prot 53.0
2947Hydroxyproline (By similarity).Swiss-Prot 53.0
2950Hydroxyproline (By similarity).Swiss-Prot 53.0
2959Hydroxyproline (By similarity).Swiss-Prot 53.0
2965Hydroxyproline (By similarity).Swiss-Prot 53.0
2968Hydroxyproline (By similarity).Swiss-Prot 53.0
2971Hydroxyproline (By similarity).Swiss-Prot 53.0
2983Hydroxyproline (By similarity).Swiss-Prot 53.0
3000Hydroxyproline (By similarity).Swiss-Prot 53.0
3003Hydroxyproline (By similarity).Swiss-Prot 53.0
3014Hydroxyproline (By similarity).Swiss-Prot 53.0
3023Hydroxyproline (By similarity).Swiss-Prot 53.0
3026Hydroxyproline (By similarity).Swiss-Prot 53.0
3029Hydroxyproline (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
79O-linkedHMM predict
90Phosphotyrosine(SRC)HMM predict
90Phosphotyrosine(Jak)HMM predict
103Phosphoserine(ATM)HMM predict
355N-linkedHMM predict
357O-linkedHMM predict
357Phosphoserine(CDC2)HMM predict
359Phosphoserine(CDC2)HMM predict
381O-linkedHMM predict
413Phosphoserine(ATM)HMM predict
524Phosphothreonine(PKC)HMM predict
589Phosphoserine(MAPK)HMM predict
632Phosphotyrosine(INSR)HMM predict
651N-linkedHMM predict
682O-linkedHMM predict
683O-linkedHMM predict
683Phosphoserine(CK1)HMM predict
685O-linkedHMM predict
685Phosphoserine(IKK)HMM predict
689Phosphoserine(CDC2)HMM predict
700N-linkedHMM predict
778Phosphothreonine(PKA)HMM predict
778Phosphothreonine(PKC)HMM predict
788Phosphotyrosine(Jak)HMM predict
802Phosphothreonine(MAPK)HMM predict
833Phosphoserine(PKG)HMM predict
938Phosphoserine(CAMK2)HMM predict
971Phosphotyrosine(Jak)HMM predict
996Phosphoserine(ATM)HMM predict
1046O-linkedHMM predict
1089Phosphoserine(CDC2)HMM predict
1356Phosphotyrosine(Syk)HMM predict
1419Phosphotyrosine(Syk)HMM predict
1450Phosphotyrosine(SRC)HMM predict
1450Phosphotyrosine(Jak)HMM predict
1462Phosphotyrosine(EGFR)HMM predict
1463Phosphoserine(CK1)HMM predict
1503Phosphotyrosine(Jak)HMM predict
1541Phosphotyrosine(SRC)HMM predict
1544Phosphothreonine(PKC)HMM predict
1554Phosphoserine(CK1)HMM predict
1558Phosphothreonine(PKC)HMM predict
1563Phosphothreonine(PKA)HMM predict
1602Phosphothreonine(CDK)HMM predict
1615Phosphoserine(IKK)HMM predict
1617Phosphothreonine(PKC)HMM predict
1643Phosphoserine(ATM)HMM predict
1651Phosphothreonine(PKC)HMM predict
1732Phosphoserine(CK2)HMM predict
1734Phosphoserine(CK1)HMM predict
1734Phosphoserine(CK2)HMM predict
1763N-linkedHMM predict
1767N-linkedHMM predict
1807Phosphoserine(IKK)HMM predict
1836Phosphothreonine(PKC)HMM predict
1846Phosphothreonine(PKC)HMM predict
1912O-linkedHMM predict
1944N-linkedHMM predict
1948N-linkedHMM predict
2014N-linkedHMM predict
2016Phosphoserine(CDC2)HMM predict
2042Phosphoserine(ATM)HMM predict
2139Phosphoserine(CDC2)HMM predict
2141Phosphoserine(MAPK)HMM predict
2146Phosphotyrosine(Jak)HMM predict
2175N-linkedHMM predict
2206N-linkedHMM predict
2231Phosphothreonine(PKC)HMM predict
2238Phosphoserine(CDC2)HMM predict
2295O-linkedHMM predict
2299O-linkedHMM predict
2303O-linkedHMM predict
2309O-linkedHMM predict
2516Phosphotyrosine(INSR)HMM predict
2518Phosphoserine(CDC2)HMM predict
2518Phosphoserine(CDK)HMM predict
2528N-linkedHMM predict
2533N-linkedHMM predict
2616Phosphoserine(IKK)HMM predict
2679N-linkedHMM predict
2761O-linkedHMM predict
2764MethylarginineHMM predict
2770O-linkedHMM predict
2811O-linkedHMM predict
2823O-linkedHMM predict
2825Phosphothreonine(CDK)HMM predict
2841MethylarginineHMM predict
2853MethylarginineHMM predict
2861O-linkedHMM predict
2861Phosphoserine(CDC2)HMM predict
2861Phosphoserine(CDK)HMM predict
2861Phosphoserine(ATM)HMM predict
2864O-linkedHMM predict
2864Phosphoserine(CDC2)HMM predict
2864Phosphoserine(ATM)HMM predict
2868O-linkedHMM predict
2871O-linkedHMM predict
2871O-linkedHMM predict
2886O-linkedHMM predict
2889O-linkedHMM predict
2892O-linkedHMM predict
2956MethylarginineHMM predict
2964MethylarginineHMM predict
2986O-linkedHMM predict
2997MethylarginineHMM predict
3010MethylarginineHMM predict
3017O-linkedHMM predict
3019O-linkedHMM predict
3020MethylarginineHMM predict
3028MethylarginineHMM predict
3032O-linkedHMM predict
3050AlanineHMM predict
3059TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_080645
  • Location:chr6 75850762-75972342
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 75973885 75974749 864 1975
CTCF G2GSE9613 75975321 75976012 691 3324
CTCF G2GSE9613 75977665 75978025 360 5503
H3K27me3 colorectalcancer 75971086 75975426 4340 914
Nanog ESGSE20650 75979525 75979960 435 7400
Nanog hESGSE18292 75979549 75980070 521 7467
P300 T30-glioblastomaGSE21026 75983567 75984366 799 11624
TFAP2C MCF7GSE21234 75972431 75972754 323 250
hScc1 BcellGSE12603 75973858 75974492 634 1833
hScc1 BcellGSE12603 75975321 75975828 507 3232
hScc1 CdLSGSE12603 75975210 75976260 1050 3393
hScc1 CdLSGSE12603 75977665 75978025 360 5503
hScc1 G2GSE9613 75973994 75975828 1834 2569
hScc1 G2GSE9613 75977665 75978025 360 5503
p130 SenescentGSE19898 75972346 75973195 849 428
p130 shRbQuiescentGSE19898 75973240 75973690 450 1123
p130 shRbSenescentGSE19898 75972308 75972813 505 218
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 75934816 75934998 182 0
CTCF G2GSE9613 75968402 75969099 697 0
CTCF G2GSE9613 75970554 75972616 2062 0
H3K27me3 colorectalcancer 75851321 75852361 1040 0
H3K27me3 colorectalcancer 75970298 75970802 504 0
Oct1 H2O2-HelaGSE14283 75896426 75896456 30 0
Oct1 H2O2-HelaGSE14283 75905594 75905635 41 0
Oct1 HelaGSE14283 75893898 75893931 33 0
Oct1 HelaGSE14283 75905596 75905659 63 0
SRF GMOGSE8489 75865107 75865454 347 0
SRF HepG2GSE8489 75865107 75865454 347 0
hScc1 BcellGSE12603 75968074 75968915 841 0
hScc1 BcellGSE12603 75970627 75971054 427 0
hScc1 BcellGSE12603 75971334 75971724 390 0
hScc1 CdLSGSE12603 75970520 75971119 599 0
hScc1 G2GSE9613 75970447 75972851 2404 0
p130 shRbQuiescentGSE19898 75969184 75969620 436 0
p130 shRbQuiescentGSE19898 75971444 75972721 1277 0
p63 keratinocytesGSE17611 75962123 75963037 914 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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