AutismKB 2.0

Annotation Detail for COL4A4


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Basic Information Top
Gene Symbol:COL4A4 ( CA44 )
Gene Full Name: collagen, type IV, alpha 4
Band: 2q36.3
Quick LinksEntrez ID:1286; OMIM: 120131; Uniprot ID:CO4A4_HUMAN; ENSEMBL ID: ENSG00000081052; HGNC ID: 2206
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
96Cell attachment site (Potential).
139Phosphoserine.
142N-linked (GlcNAc...) (Potential).
147Cell attachment site (Potential).
191Cell attachment site (Potential).
312Cell attachment site (Potential).
669N-linked (GlcNAc...) (Potential).
726Cell attachment site (Potential).
787Cell attachment site (Potential).
991Cell attachment site (Potential).
1214Cell attachment site (Potential).
Location(AA) Modifications Resource
142N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
669N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
63O-linkedHMM predict
64MethylarginineHMM predict
88O-linkedHMM predict
91O-linkedHMM predict
106O-linkedHMM predict
109O-linkedHMM predict
112O-linkedHMM predict
133MethylarginineHMM predict
139O-linkedHMM predict
142N-linkedHMM predict
154MethylarginineHMM predict
169O-linkedHMM predict
172O-linkedHMM predict
210O-linkedHMM predict
210O-linkedHMM predict
227MethylarginineHMM predict
231O-linkedHMM predict
239O-linkedHMM predict
253O-linkedHMM predict
253Phosphoserine(CDC2)HMM predict
253Phosphoserine(IKK)HMM predict
269O-linkedHMM predict
272O-linkedHMM predict
275O-linkedHMM predict
290O-linkedHMM predict
293O-linkedHMM predict
298O-linkedHMM predict
301O-linkedHMM predict
316Phosphotyrosine(INSR)HMM predict
318O-linkedHMM predict
318Phosphoserine(CDC2)HMM predict
318Phosphoserine(CDK)HMM predict
325O-linkedHMM predict
343O-linkedHMM predict
349MethylarginineHMM predict
360Phosphothreonine(CDK)HMM predict
381O-linkedHMM predict
471O-linkedHMM predict
473O-linkedHMM predict
483O-linkedHMM predict
486O-linkedHMM predict
513O-linkedHMM predict
513Phosphoserine(CAMK2)HMM predict
514O-linkedHMM predict
525O-linkedHMM predict
526O-linkedHMM predict
547O-linkedHMM predict
547O-linkedHMM predict
547PhosphoserineHMM predict
553O-linkedHMM predict
556O-linkedHMM predict
568O-linkedHMM predict
595O-linkedHMM predict
612O-linkedHMM predict
641MethylarginineHMM predict
659O-linkedHMM predict
662O-linkedHMM predict
669N-linkedHMM predict
688O-linkedHMM predict
700O-linkedHMM predict
702Phosphoserine(ATM)HMM predict
706O-linkedHMM predict
736O-linkedHMM predict
739Phosphoserine(CDC2)HMM predict
749O-linkedHMM predict
749Phosphoserine(CDC2)HMM predict
756O-linkedHMM predict
776PhosphoserineHMM predict
782O-linkedHMM predict
806O-linkedHMM predict
809O-linkedHMM predict
827O-linkedHMM predict
847O-linkedHMM predict
847Phosphoserine(CDC2)HMM predict
847Phosphoserine(CDK)HMM predict
847Phosphoserine(ATM)HMM predict
854O-linkedHMM predict
869O-linkedHMM predict
905O-linkedHMM predict
908MethylarginineHMM predict
932O-linkedHMM predict
938O-linkedHMM predict
941O-linkedHMM predict
953O-linkedHMM predict
971O-linkedHMM predict
973O-linkedHMM predict
992O-linkedHMM predict
994O-linkedHMM predict
1001MethylarginineHMM predict
1007Phosphotyrosine(INSR)HMM predict
1007Phosphotyrosine(SRC)HMM predict
1007Phosphotyrosine(Abl)HMM predict
1020O-linkedHMM predict
1035O-linkedHMM predict
1055O-linkedHMM predict
1055Phosphoserine(CDC2)HMM predict
1055Phosphoserine(CDK)HMM predict
1055Phosphoserine(ATM)HMM predict
1062O-linkedHMM predict
1071O-linkedHMM predict
1074O-linkedHMM predict
1087O-linkedHMM predict
1092O-linkedHMM predict
1092O-linkedHMM predict
1102O-linkedHMM predict
1114MethylarginineHMM predict
1116O-linkedHMM predict
1116O-linkedHMM predict
1116Phosphoserine(CDC2)HMM predict
1116Phosphoserine(CDK)HMM predict
1125O-linkedHMM predict
1126O-linkedHMM predict
1126O-linkedHMM predict
1168O-linkedHMM predict
1171O-linkedHMM predict
1183O-linkedHMM predict
1186O-linkedHMM predict
1188O-linkedHMM predict
1189O-linkedHMM predict
1192O-linkedHMM predict
1209O-linkedHMM predict
1217O-linkedHMM predict
1217Phosphoserine(ATM)HMM predict
1217Phosphoserine(IKK)HMM predict
1221O-linkedHMM predict
1221Phosphoserine(CDC2)HMM predict
1221Phosphoserine(ATM)HMM predict
1228O-linkedHMM predict
1229O-linkedHMM predict
1237O-linkedHMM predict
1238O-linkedHMM predict
1238O-linkedHMM predict
1272MethylarginineHMM predict
1312O-linkedHMM predict
1324O-linkedHMM predict
1345O-linkedHMM predict
1353MethylarginineHMM predict
1354O-linkedHMM predict
1357O-linkedHMM predict
1363O-linkedHMM predict
1363O-linkedHMM predict
1388MethylarginineHMM predict
1400MethylarginineHMM predict
1408O-linkedHMM predict
1425O-linkedHMM predict
1425Phosphoserine(CDC2)HMM predict
1425Phosphoserine(CDK)HMM predict
1425Phosphoserine(ATM)HMM predict
1432O-linkedHMM predict
1435O-linkedHMM predict
1584Phosphoserine(IKK)HMM predict
1621Phosphoserine(IKK)HMM predict
1688LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000092
  • Location:chr2 227575673-227737518
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 227606421 227606588 167 0
CTCF CD4GSE12889 227680138 227680302 164 0
CTCF CD4GSE12889 227702860 227703017 157 0
CTCF CD4SISSRdata 227606421 227606588 167 0
CTCF CD4SISSRdata 227680138 227680302 164 0
CTCF CD4SISSRdata 227702860 227703017 157 0
CTCF JurkatGSE12889 227680134 227680401 267 0
CTCF JurkatGSE12889 227702752 227703031 279 0
CTCF G2GSE9613 227577234 227577596 362 0
CTCF G2GSE9613 227580391 227580640 249 0
CTCF G2GSE9613 227581035 227581571 536 0
CTCF G2GSE9613 227591296 227591681 385 0
CTCF G2GSE9613 227606212 227606743 531 0
CTCF G2GSE9613 227698521 227698742 221 0
CTCF G2GSE9613 227702824 227703302 478 0
CTCF G2GSE9613 227726554 227726957 403 0
CTCF G2GSE9613 227736743 227737960 1217 0
FOXA1 MCF7GSE15244 227611583 227611903 320 0
H3K27me3 colorectalcancer 227735359 227736016 657 0
Nanog ESGSE20650 227606356 227606722 366 0
Nanog hESGSE18292 227680065 227680430 365 0
Rb shRbSenescenceGSE19898 227606251 227606439 188 0
hScc1 BcellGSE12603 227631964 227632249 285 0
hScc1 BcellGSE12603 227679941 227680117 176 0
hScc1 BcellGSE12603 227702708 227703825 1117 0
hScc1 BcellGSE12603 227736544 227737902 1358 0
hScc1 CdLSGSE12603 227702672 227703545 873 0
hScc1 G2GSE9613 227577134 227577596 462 0
hScc1 G2GSE9613 227702672 227703336 664 0
hScc1 G2GSE9613 227736615 227738113 1498 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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