AutismKB 2.0

Annotation Detail for COL6A1


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Basic Information Top
Gene Symbol:COL6A1 ( OPLL )
Gene Full Name: collagen, type VI, alpha 1
Band: 21q22.3
Quick LinksEntrez ID:1291; OMIM: 120220; Uniprot ID:CO6A1_HUMAN; ENSEMBL ID: ENSG00000142156; HGNC ID: 2211
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
212N-linked (GlcNAc...).
264Cell attachment site.
444Cell attachment site.
480Cell attachment site.
516N-linked (GlcNAc...).
537N-linked (GlcNAc...) (Potential).
804N-linked (GlcNAc...).
896N-linked (GlcNAc...).
Location(AA) Modifications Resource
212N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
516N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
537N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
804N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
896N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
25Phosphothreonine(MAPK)HMM predict
25Phosphothreonine(CDC2)HMM predict
66Phosphothreonine(PKC)HMM predict
77Phosphotyrosine(Jak)HMM predict
78Phosphotyrosine(Jak)HMM predict
128Phosphotyrosine(INSR)HMM predict
192Phosphothreonine(MAPK)HMM predict
212N-linkedHMM predict
229Phosphoserine(ATM)HMM predict
280O-linkedHMM predict
301O-linkedHMM predict
304O-linkedHMM predict
306O-linkedHMM predict
310O-linkedHMM predict
312O-linkedHMM predict
316O-linkedHMM predict
319O-linkedHMM predict
322O-linkedHMM predict
324O-linkedHMM predict
334O-linkedHMM predict
346O-linkedHMM predict
348O-linkedHMM predict
361O-linkedHMM predict
370O-linkedHMM predict
373O-linkedHMM predict
388Phosphoserine(ATM)HMM predict
388O-linkedHMM predict
388O-linkedHMM predict
391O-linkedHMM predict
406O-linkedHMM predict
433MethylarginineHMM predict
475O-linkedHMM predict
490MethylarginineHMM predict
516N-linkedHMM predict
531MethylarginineHMM predict
537N-linkedHMM predict
539O-linkedHMM predict
540O-linkedHMM predict
546O-linkedHMM predict
568O-linkedHMM predict
571O-linkedHMM predict
573Phosphotyrosine(INSR)HMM predict
625Phosphoserine(CK1)HMM predict
668Phosphoserine(ATM)HMM predict
678Phosphoserine(CDC2)HMM predict
718Phosphoserine(CDC2)HMM predict
734Phosphothreonine(PKC)HMM predict
780Phosphoserine(ATM)HMM predict
793Phosphotyrosine(EGFR)HMM predict
804N-linkedHMM predict
818Phosphotyrosine(INSR)HMM predict
896N-linkedHMM predict
947Phosphoserine(IKK)HMM predict
947Phosphoserine(ATM)HMM predict
951Phosphothreonine(MAPK)HMM predict
994Phosphotyrosine(SRC)HMM predict
998SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001848
  • Location:chr21 46226090-46249390
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46215074 46215257 183 10925
CTCF CD4GSE12889 46218016 46218274 258 7946
CTCF CD4SISSRdata 46215074 46215257 183 10925
CTCF CD4SISSRdata 46218016 46218274 258 7946
CTCF HelaGSE12889 46215068 46215290 222 10912
CTCF JurkatGSE12889 46215016 46215325 309 10920
CTCF G2GSE9613 46214962 46215620 658 10800
CTCF G2GSE9613 46217888 46218200 312 8047
ETS1 JurkatGSE17954 46217713 46218678 965 7895
H3K27me3 colorectalcancer 46223412 46223809 397 2480
Rb GrowingGSE19898 46218047 46218379 332 7878
Rb QuiescentGSE19898 46218064 46218335 271 7891
Rb SenescentGSE19898 46218109 46218464 355 7804
Rb shRbSenescenceGSE19898 46218893 46219141 248 7074
hScc1 BcellGSE12603 46214628 46215665 1037 10944
hScc1 BcellGSE12603 46218052 46218851 799 7639
p130 QuiescentGSE19898 46218165 46218535 370 7741
p130 QuiescentGSE19898 46218946 46219102 156 7067
p130 SenescentGSE19898 46216303 46216566 263 9656
p130 SenescentGSE19898 46219298 46219531 233 6676
p130 shRbQuiescentGSE19898 46216254 46217064 810 9432
p130 shRbQuiescentGSE19898 46217937 46218352 415 7946
p130 shRbQuiescentGSE19898 46218620 46219111 491 7225
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 46266688 46267438 750 17673
USF1 HepG2E 46268082 46268394 312 18848
hScc1 BcellGSE12603 46250785 46251125 340 1565
hScc1 BcellGSE12603 46254954 46255267 313 5720
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46225813 46226511 698 0
KLF4 hESGSE17917 46244845 46245026 181 0
TFAP2C MCF7GSE21234 46239557 46240727 1170 0
hScc1 BcellGSE12603 46226091 46226511 420 0
hScc1 BcellGSE12603 46230867 46231945 1078 0
hScc1 BcellGSE12603 46233848 46234739 891 0
hScc1 BcellGSE12603 46235412 46235888 476 0
hScc1 BcellGSE12603 46248522 46249530 1008 0
p130 SenescentGSE19898 46231586 46231870 284 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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