AutismKB 2.0

Annotation Detail for COL6A3


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Basic Information Top
Gene Symbol:COL6A3 ( DKFZp686D23123,DKFZp686K04147,DKFZp686N0262,FLJ34702,FLJ98399 )
Gene Full Name: collagen, type VI, alpha 3
Band: 2q37.3
Quick LinksEntrez ID:1293; OMIM: 120250; Uniprot ID:CO6A3_HUMAN; ENSEMBL ID: ENSG00000163359; HGNC ID: 2213
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
26Pyrrolidone carboxylic acid (Probable).
108N-linked (GlcNAc...) (Potential).
116N-linked (GlcNAc...) (Potential).
202N-linked (GlcNAc...) (Potential).
251N-linked (GlcNAc...) (Potential).
2042Cell attachment site.
2079N-linked (GlcNAc...).
21004-hydroxyproline.
21035-hydroxylysine.
2103O-linked (Gal...).
2138Cell attachment site.
2150Cell attachment site.
2156Cell attachment site.
22064-hydroxyproline.
2209O-linked (Gal...).
22095-hydroxylysine.
2212O-linked (Gal...).
22125-hydroxylysine.
22394-hydroxyproline.
23164-hydroxyproline.
23194-hydroxyproline.
23225-hydroxylysine.
2322O-linked (Gal...).
2331N-linked (GlcNAc...) (Potential).
2337O-linked (Gal...).
23375-hydroxylysine.
2372Cell attachment site.
2558N-linked (GlcNAc...) (Potential).
2677N-linked (GlcNAc...).
2861N-linked (GlcNAc...) (Potential).
3037N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
26Pyrrolidone carboxylic acid (Probable).Swiss-Prot 53.0
108N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
116N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
202N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
251N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2079N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
21004-hydroxyproline.Swiss-Prot 53.0
21035-hydroxylysine.Swiss-Prot 53.0
2103O-linked (Gal...).Swiss-Prot 53.0
22064-hydroxyproline.Swiss-Prot 53.0
22095-hydroxylysine.Swiss-Prot 53.0
2209O-linked (Gal...).Swiss-Prot 53.0
2212O-linked (Gal...).Swiss-Prot 53.0
22125-hydroxylysine.Swiss-Prot 53.0
22394-hydroxyproline.Swiss-Prot 53.0
23164-hydroxyproline.Swiss-Prot 53.0
23194-hydroxyproline.Swiss-Prot 53.0
23225-hydroxylysine.Swiss-Prot 53.0
2322O-linked (Gal...).Swiss-Prot 53.0
2331N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
23375-hydroxylysine.Swiss-Prot 53.0
2337O-linked (Gal...).Swiss-Prot 53.0
2558N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2677N-linked (GlcNAc...).Swiss-Prot 53.0
2861N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3036N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
116N-linkedHMM predict
202N-linkedHMM predict
251N-linkedHMM predict
252N-linkedHMM predict
257N-linkedHMM predict
358Phosphoserine(CK2)HMM predict
566Phosphoserine(CK1)HMM predict
566Phosphoserine(ATM)HMM predict
576Phosphoserine(PKA)HMM predict
989Phosphoserine(CDC2)HMM predict
1025O-linkedHMM predict
1085Phosphotyrosine(INSR)HMM predict
1225Phosphoserine(CDC2)HMM predict
1225Phosphoserine(MAPK)HMM predict
1225Phosphoserine(ATM)HMM predict
1241Phosphoserine(ATM)HMM predict
1290Phosphoserine(CK2)HMM predict
1382Phosphoserine(PKG)HMM predict
1406Phosphothreonine(MAPK)HMM predict
1410O-linkedHMM predict
1492Phosphothreonine(PKC)HMM predict
1512Phosphoserine(CDC2)HMM predict
1516Phosphothreonine(PKC)HMM predict
1619O-linkedHMM predict
1619Phosphothreonine(CDC2)HMM predict
1627Phosphothreonine(MAPK)HMM predict
1627Phosphothreonine(CDK)HMM predict
1627PhosphothreonineHMM predict
1654Phosphoserine(PKA)HMM predict
1654Phosphoserine(PKG)HMM predict
1763Phosphoserine(IKK)HMM predict
1882Phosphoserine(CDC2)HMM predict
1884Phosphothreonine(PKC)HMM predict
1888Phosphoserine(PKG)HMM predict
1893Phosphothreonine(MAPK)HMM predict
1906Phosphotyrosine(Syk)HMM predict
1906SulfotyrosineHMM predict
1941Phosphoserine(IKK)HMM predict
2002Phosphotyrosine(Jak)HMM predict
2052O-linkedHMM predict
2060Phosphotyrosine(Syk)HMM predict
2079N-linkedHMM predict
2091MethylarginineHMM predict
2094O-linkedHMM predict
2096O-linkedHMM predict
2103O-linkedHMM predict
2121O-linkedHMM predict
2127O-linkedHMM predict
2130O-linkedHMM predict
2139O-linkedHMM predict
2145O-linkedHMM predict
2170O-linkedHMM predict
2173O-linkedHMM predict
2209O-linkedHMM predict
2212O-linkedHMM predict
2251MethylarginineHMM predict
2263MethylarginineHMM predict
2272O-linkedHMM predict
2281O-linkedHMM predict
2293O-linkedHMM predict
2309O-linkedHMM predict
2310O-linkedHMM predict
2322O-linkedHMM predict
2331N-linkedHMM predict
2337O-linkedHMM predict
2340MethylarginineHMM predict
2346O-linkedHMM predict
2346Phosphoserine(PKA)HMM predict
2346Phosphoserine(PKG)HMM predict
2346Phosphoserine(PKB)HMM predict
2346PhosphoserineHMM predict
2355O-linkedHMM predict
2360Phosphotyrosine(INSR)HMM predict
2367MethylarginineHMM predict
2390S-palmitoylHMM predict
2498Phosphothreonine(PKC)HMM predict
2523Phosphoserine(CDC2)HMM predict
2558N-linkedHMM predict
2559N-linkedHMM predict
2652Phosphoserine(ATM)HMM predict
2677N-linkedHMM predict
2692Phosphotyrosine(INSR)HMM predict
2827Phosphotyrosine(Syk)HMM predict
2861N-linkedHMM predict
2864O-linkedHMM predict
2865O-linkedHMM predict
2865Phosphoserine(CDC2)HMM predict
2865Phosphoserine(IKK)HMM predict
2868O-linkedHMM predict
2868Phosphoserine(IKK)HMM predict
2872O-linkedHMM predict
2873O-linkedHMM predict
2873Phosphothreonine(PKC)HMM predict
2879O-linkedHMM predict
2879O-linkedHMM predict
2884O-linkedHMM predict
2886O-linkedHMM predict
2891O-linkedHMM predict
2893O-linkedHMM predict
2898O-linkedHMM predict
2929O-linkedHMM predict
2929Phosphothreonine(PKC)HMM predict
2983O-linkedHMM predict
3036N-linkedHMM predict
3074O-linkedHMM predict
3078Phosphoserine(PKG)HMM predict
3078Phosphoserine(ATM)HMM predict
3078Phosphoserine(IKK)HMM predict
3088O-linkedHMM predict
3090Phosphoserine(CK1)HMM predict
3092O-linkedHMM predict
3159LysineHMM predict
3161S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004369
  • Location:chr2 237897400-237987558
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 237994895 237995301 406 7540
CTCF CD4SISSRdata 237994895 237995301 406 7540
CTCF G2GSE9613 237994855 237995522 667 7630
CTCF G2GSE9613 238005859 238006320 461 18531
H3K27me3 colorectalcancer 237993026 237993928 902 5919
hScc1 G2GSE9613 237994925 237995522 597 7665
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 237880888 237881465 577 16224
CTCF G2GSE9613 237886159 237886539 380 11052
CTCF G2GSE9613 237895477 237895799 322 1763
CTCF G2GSE9613 237896377 237896603 226 911
ER MCF7GSE19013 237896322 237896891 569 794
P300 T30-glioblastomaGSE21026 237888264 237889814 1550 8362
USF1 HepG2E 237887674 237888337 663 9395
p130 shRbQuiescentGSE19898 237889614 237889939 325 7624
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 237916898 237917450 552 0
CTCF G2GSE9613 237909453 237909697 244 0
CTCF G2GSE9613 237924265 237924627 362 0
CTCF G2GSE9613 237933249 237933780 531 0
CTCF G2GSE9613 237941111 237941369 258 0
CTCF G2GSE9613 237946022 237946513 491 0
CTCF G2GSE9613 237948299 237948439 140 0
CTCF G2GSE9613 237950271 237950556 285 0
CTCF G2GSE9613 237957884 237958234 350 0
CTCF G2GSE9613 237983288 237983644 356 0
H3K27me3 colorectalcancer 237986468 237988256 1788 0
KLF4 hESGSE17917 237923408 237923574 166 0
hScc1 G2GSE9613 237983179 237983644 465 0
p130 shRbQuiescentGSE19898 237957429 237958001 572 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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