AutismKB 2.0

Annotation Detail for COL2A1


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Basic Information Top
Gene Symbol:COL2A1 ( ANFH,AOM,COL11A3,MGC131516,SEDC )
Gene Full Name: collagen, type II, alpha 1
Band: 12q13.11
Quick LinksEntrez ID:1280; OMIM: 120140; Uniprot ID:CO2A1_HUMAN; ENSEMBL ID: ENSG00000139219; HGNC ID: 2200
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1905-hydroxylysine (By similarity).
190O-linked (Gal...) (By similarity).
2875-hydroxylysine (By similarity).
287O-linked (Gal...) (By similarity).
299O-linked (Gal...) (By similarity).
2995-hydroxylysine (By similarity).
308O-linked (Gal...) (By similarity).
3085-hydroxylysine (By similarity).
374O-linked (Gal...) (By similarity).
3745-hydroxylysine (By similarity).
6085-hydroxylysine (By similarity).
608O-linked (Gal...) (By similarity).
620O-linked (Gal...) (By similarity).
6205-hydroxylysine (By similarity).
1130O-linked (Gal...) (By similarity).
11305-hydroxylysine (By similarity).
1388N-linked (GlcNAc...).
Location(AA) Modifications Resource
1905-hydroxylysine (By similarity).Swiss-Prot 53.0
190O-linked (Gal...) (By similarity).Swiss-Prot 53.0
2875-hydroxylysine (By similarity).Swiss-Prot 53.0
287O-linked (Gal...) (By similarity).Swiss-Prot 53.0
2995-hydroxylysine (By similarity).Swiss-Prot 53.0
299O-linked (Gal...) (By similarity).Swiss-Prot 53.0
3085-hydroxylysine (By similarity).Swiss-Prot 53.0
308O-linked (Gal...) (By similarity).Swiss-Prot 53.0
374O-linked (Gal...) (By similarity).Swiss-Prot 53.0
3745-hydroxylysine (By similarity).Swiss-Prot 53.0
6085-hydroxylysine (By similarity).Swiss-Prot 53.0
608O-linked (Gal...) (By similarity).Swiss-Prot 53.0
6205-hydroxylysine (By similarity).Swiss-Prot 53.0
620O-linked (Gal...) (By similarity).Swiss-Prot 53.0
11305-hydroxylysine (By similarity).Swiss-Prot 53.0
1130O-linked (Gal...) (By similarity).Swiss-Prot 53.0
1388N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
103O-linkedHMM predict
106O-linkedHMM predict
119O-linkedHMM predict
140O-linkedHMM predict
143O-linkedHMM predict
149MethylarginineHMM predict
157Phosphothreonine(CDC2)HMM predict
209MethylarginineHMM predict
236O-linkedHMM predict
236O-linkedHMM predict
275MethylarginineHMM predict
287O-linkedHMM predict
299O-linkedHMM predict
308O-linkedHMM predict
311O-linkedHMM predict
313Phosphoserine(CDC2)HMM predict
313Phosphoserine(ATM)HMM predict
317N-linkedHMM predict
319O-linkedHMM predict
319Phosphoserine(CDC2)HMM predict
319Phosphoserine(ATM)HMM predict
335O-linkedHMM predict
374O-linkedHMM predict
380O-linkedHMM predict
392MethylarginineHMM predict
397Phosphothreonine(CDC2)HMM predict
400O-linkedHMM predict
400Phosphoserine(CDC2)HMM predict
407O-linkedHMM predict
419O-linkedHMM predict
421O-linkedHMM predict
437MethylarginineHMM predict
452O-linkedHMM predict
455O-linkedHMM predict
464O-linkedHMM predict
470O-linkedHMM predict
494MethylarginineHMM predict
509MethylarginineHMM predict
515MethylarginineHMM predict
527O-linkedHMM predict
536O-linkedHMM predict
536O-linkedHMM predict
542O-linkedHMM predict
563O-linkedHMM predict
563Phosphothreonine(PKC)HMM predict
578O-linkedHMM predict
596MethylarginineHMM predict
608O-linkedHMM predict
620O-linkedHMM predict
629MethylarginineHMM predict
638O-linkedHMM predict
662O-linkedHMM predict
698MethylarginineHMM predict
709O-linkedHMM predict
719MethylarginineHMM predict
731O-linkedHMM predict
734O-linkedHMM predict
764O-linkedHMM predict
773O-linkedHMM predict
803O-linkedHMM predict
827O-linkedHMM predict
848O-linkedHMM predict
857O-linkedHMM predict
869O-linkedHMM predict
869O-linkedHMM predict
878O-linkedHMM predict
881O-linkedHMM predict
884O-linkedHMM predict
887MethylarginineHMM predict
896O-linkedHMM predict
923O-linkedHMM predict
923O-linkedHMM predict
929O-linkedHMM predict
935O-linkedHMM predict
940MethylarginineHMM predict
956O-linkedHMM predict
965O-linkedHMM predict
965O-linkedHMM predict
989MethylarginineHMM predict
1001O-linkedHMM predict
1001O-linkedHMM predict
1013O-linkedHMM predict
1016MethylarginineHMM predict
1028O-linkedHMM predict
1036MethylarginineHMM predict
1039O-linkedHMM predict
1055O-linkedHMM predict
1061O-linkedHMM predict
1075O-linkedHMM predict
1075Phosphoserine(CDC2)HMM predict
1075PhosphoserineHMM predict
1082O-linkedHMM predict
1088MethylarginineHMM predict
1100O-linkedHMM predict
1118O-linkedHMM predict
1130O-linkedHMM predict
1136O-linkedHMM predict
1148O-linkedHMM predict
1148O-linkedHMM predict
1154O-linkedHMM predict
1160O-linkedHMM predict
1160O-linkedHMM predict
1172O-linkedHMM predict
1193O-linkedHMM predict
1196O-linkedHMM predict
1238Phosphotyrosine(INSR)HMM predict
1271Phosphoserine(CDC2)HMM predict
1282Phosphothreonine(PKC)HMM predict
1325Phosphotyrosine(Syk)HMM predict
1382Phosphoserine(CK1)HMM predict
1386Phosphoserine(ATM)HMM predict
1388N-linkedHMM predict
1454Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_033150
  • Location:chr12 46653015-46684551
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46689079 46689214 135 4595
ER MCF7GSE19013 46701855 46702599 744 17676
FOXA1 DLD1GSE12801 46701574 46702436 862 17454
FOXA1 DLD1GSE12801 46702936 46703556 620 18695
FOXA1 MCF7GSE15244 46701427 46704175 2748 18250
FoxA1 MCF7MACSdata 46701745 46702342 597 17492
RARA MCF7GSE15244 46701710 46703591 1881 18099
RARG MCF7GSE15244 46688684 46689177 493 4379
RARG MCF7GSE15244 46701350 46704175 2825 18211
TAF HelaGSE8489 46688577 46689079 502 4277
TFAP2C MCF7GSE21234 46701764 46702565 801 17613
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 46652361 46653099 738 286
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46655124 46655582 458 0
CTCF G2GSE9613 46655932 46656141 209 0
CTCF G2GSE9613 46656647 46657226 579 0
CTCF G2GSE9613 46657809 46658571 762 0
CTCF G2GSE9613 46658967 46659558 591 0
CTCF G2GSE9613 46660033 46660490 457 0
CTCF G2GSE9613 46660773 46661376 603 0
CTCF G2GSE9613 46661647 46662073 426 0
CTCF G2GSE9613 46663049 46663275 226 0
CTCF G2GSE9613 46663575 46663835 260 0
CTCF G2GSE9613 46665520 46665943 423 0
CTCF G2GSE9613 46666844 46667216 372 0
CTCF G2GSE9613 46667747 46668684 937 0
CTCF G2GSE9613 46669292 46670023 731 0
CTCF G2GSE9613 46671216 46671717 501 0
CTCF G2GSE9613 46673591 46673732 141 0
CTCF G2GSE9613 46675587 46676063 476 0
CTCF G2GSE9613 46681065 46681203 138 0
CTCF G2GSE9613 46682162 46682444 282 0
CTCF G2GSE9613 46682888 46683195 307 0
CTCF G2GSE9613 46683705 46684929 1224 0
FOXA1 MCF7GSE15244 46675432 46676489 1057 0
FOXA1 MCF7GSE15244 46681709 46683523 1814 0
FoxA1 MCF7MACSdata 46677342 46677617 275 0
H3K27me3 colorectalcancer 46682248 46684129 1881 0
NRSF pAbJurkat 46659687 46659987 300 0
TFAP2C MCF7GSE21234 46656167 46656692 525 0
TFAP2C MCF7GSE21234 46677193 46677834 641 0
TFAP2C MCF7GSE21234 46680903 46681634 731 0
hScc1 G2GSE9613 46659015 46661470 2455 0
hScc1 G2GSE9613 46671216 46671645 429 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-140-3p hsa-mir-140 16 19714579
hsa-miR-140-5p hsa-mir-140 16 19714579
hsa-miR-146a hsa-mir-146a 5 19333945
hsa-miR-146a* hsa-mir-146a 5 19333945
hsa-miR-146b-3p hsa-mir-146b 10 19333945
hsa-miR-146b-5p hsa-mir-146b 10 19333945
hsa-miR-21 hsa-mir-21 17 20349039
hsa-miR-21* hsa-mir-21 17 20349039
hsa-miR-34a hsa-mir-34a 1 20675358
hsa-miR-34a* hsa-mir-34a 1 20675358
hsa-miR-675 hsa-mir-675 11 20529846
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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