AutismKB 2.0

Annotation Detail for ADAMTS12


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Basic Information Top
Gene Symbol:ADAMTS12 ( PRO4389 )
Gene Full Name: ADAM metallopeptidase with thrombospondin type 1 motif, 12
Band: 5p13.3-p13.2
Quick LinksEntrez ID:81792; OMIM: 606184; Uniprot ID:ATS12_HUMAN; ENSEMBL ID: ENSG00000151388; HGNC ID: 14605
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
105N-linked (GlcNAc...) (Potential).
125N-linked (GlcNAc...) (Potential).
213Cysteine switch (By similarity).
215N-linked (GlcNAc...) (Potential).
234Phosphoserine.
236Phosphoserine.
485N-linked (GlcNAc...) (Potential).
685N-linked (GlcNAc...) (Potential).
790N-linked (GlcNAc...) (Potential).
952N-linked (GlcNAc...) (Potential).
982Phosphothreonine (By similarity).
1105N-linked (GlcNAc...) (Potential).
1276N-linked (GlcNAc...) (Potential).
1301N-linked (GlcNAc...) (Potential).
1321N-linked (GlcNAc...) (Potential).
1372N-linked (GlcNAc...) (Potential).
1379N-linked (GlcNAc...) (Potential).
1504N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
105N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
125N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
215N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
234Phosphoserine.Swiss-Prot 53.0
236Phosphoserine.Swiss-Prot 53.0
485N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
685N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
790N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
951N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1104N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1275N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1300N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1320N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1371N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1378N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1503N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
105N-linkedHMM predict
109N-linkedHMM predict
217Phosphoserine(ATM)HMM predict
243Phosphoserine(CK1)HMM predict
433Phosphoserine(IKK)HMM predict
485N-linkedHMM predict
545C-linkedHMM predict
548C-linkedHMM predict
551C-linkedHMM predict
685N-linkedHMM predict
703Phosphothreonine(PKC)HMM predict
716Phosphotyrosine(INSR)HMM predict
832C-linkedHMM predict
951N-linkedHMM predict
952C-linkedHMM predict
997Phosphoserine(CDC2)HMM predict
1025Phosphothreonine(PKC)HMM predict
1026O-linkedHMM predict
1039O-linkedHMM predict
1039Phosphoserine(IKK)HMM predict
1041O-linkedHMM predict
1041Phosphoserine(CK1)HMM predict
1041Phosphoserine(IKK)HMM predict
1044O-linkedHMM predict
1048O-linkedHMM predict
1048O-linkedHMM predict
1049O-linkedHMM predict
1049Phosphoserine(CDK)HMM predict
1049Phosphoserine(CDC2)HMM predict
1051O-linkedHMM predict
1053Phosphothreonine(PKC)HMM predict
1053O-linkedHMM predict
1085Phosphoserine(IKK)HMM predict
1087O-linkedHMM predict
1087Phosphoserine(ATM)HMM predict
1104N-linkedHMM predict
1106O-linkedHMM predict
1106Phosphoserine(CK2)HMM predict
1106O-linkedHMM predict
1107Phosphoserine(CK1)HMM predict
1108O-linkedHMM predict
1124O-linkedHMM predict
1126Phosphoserine(IKK)HMM predict
1140Phosphothreonine(CDK)HMM predict
1200Phosphothreonine(MAPK)HMM predict
1222Phosphoserine(ATM)HMM predict
1226O-linkedHMM predict
1228O-linkedHMM predict
1232Phosphothreonine(CDC2)HMM predict
1275N-linkedHMM predict
1285Phosphothreonine(CK2)HMM predict
1291Phosphoserine(CK1)HMM predict
1300N-linkedHMM predict
1303N-linkedHMM predict
1320N-linkedHMM predict
1321C-linkedHMM predict
1371N-linkedHMM predict
1461Phosphothreonine(PKA)HMM predict
1462Phosphoserine(PKA)HMM predict
1462Phosphoserine(IKK)HMM predict
1503N-linkedHMM predict
1546Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_030955
  • Location:chr5 33563045-33927880
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 33927614 33928235 621 44
Oct1 H2O2-HelaGSE14283 33930409 33930445 36 2547
Oct1 HelaGSE14283 33930382 33930444 62 2533
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 33550094 33550362 268 12818
Nanog hESGSE18292 33553020 33553252 232 9910
Stat6 IL-4-hr4GSE17850 33548061 33548642 581 14694
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 33624724 33624863 139 0
CTCF CD4SISSRdata 33624724 33624863 139 0
CTCF HelaGSE12889 33624698 33624927 229 0
CTCF JurkatGSE12889 33624616 33624882 266 0
CTCF G2GSE9613 33566342 33566667 325 0
CTCF G2GSE9613 33584993 33585392 399 0
CTCF G2GSE9613 33594947 33595274 327 0
CTCF G2GSE9613 33600004 33600358 354 0
CTCF G2GSE9613 33624273 33625149 876 0
CTCF G2GSE9613 33631387 33631645 258 0
CTCF G2GSE9613 33758682 33758895 213 0
ER E2-MCF7GSE14664 33734016 33734049 33 0
ER E2-MCF7GSE14664 33752388 33752467 79 0
ER E2-MCF7GSE14664 33837494 33837560 66 0
ER Fulvestrant-MCF7GSE14664 33734016 33734062 46 0
ER MCF7GSE19013 33585584 33586380 796 0
FOXA1 MCF7GSE15244 33585138 33586373 1235 0
FOXA1 MCF7GSE15244 33925876 33926799 923 0
FoxA1 MCF7MACSdata 33585900 33586100 200 0
FoxA1 MCF7MACSdata 33926027 33926373 346 0
NFkBII GM12878GSE19485 33885506 33887043 1537 0
NFkBII GM12892GSE19485 33885692 33886753 1061 0
NRSF mAbJurkat 33884104 33884236 132 0
Nanog hESGSE18292 33685932 33686249 317 0
Oct1 H2O2-HelaGSE14283 33629098 33629137 39 0
Oct1 H2O2-HelaGSE14283 33651367 33651404 37 0
Oct1 H2O2-HelaGSE14283 33847410 33847439 29 0
Oct1 HelaGSE14283 33629098 33629140 42 0
Oct1 HelaGSE14283 33651367 33651417 50 0
Oct1 HelaGSE14283 33734017 33734063 46 0
Oct1 HelaGSE14283 33771233 33771262 29 0
Oct1 HelaGSE14283 33793153 33793190 37 0
Oct1 HelaGSE14283 33847407 33847441 34 0
Oct1 HelaGSE14283 33855553 33855583 30 0
Oct4 hESGSE21916 33624466 33625083 617 0
P300 T0-glioblastomaGSE21026 33772028 33772817 789 0
P300 T30-glioblastomaGSE21026 33685698 33686319 621 0
P300 T30-glioblastomaGSE21026 33772164 33773207 1043 0
P300 T30-glioblastomaGSE21026 33824517 33825152 635 0
Rb shRbQuiescentGSE19898 33627609 33627775 166 0
Rb shRbQuiescentGSE19898 33926123 33926285 162 0
TAF HelaGSE8489 33663580 33664045 465 0
TAF HelaGSE8489 33708237 33709213 976 0
TAF HelaGSE8489 33855576 33855754 178 0
TAF HelaGSE8489 33917751 33918002 251 0
TFAP2C MCF7GSE21234 33597393 33597975 582 0
TFAP2C MCF7GSE21234 33685644 33686028 384 0
hScc1 BcellGSE12603 33624485 33624934 449 0
hScc1 BcellGSE12603 33659118 33659505 387 0
hScc1 BcellGSE12603 33885921 33886545 624 0
hScc1 CdLSGSE12603 33624448 33625149 701 0
hScc1 CdLSGSE12603 33885819 33886545 726 0
hScc1 G2GSE9613 33624237 33625184 947 0
hScc1 G2GSE9613 33631117 33631645 528 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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