AutismKB 2.0

Annotation Detail for ALPL


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ALPL ( AP-TNAP,APTNAP,FLJ40094,FLJ93059,HOPS,MGC161443,MGC167935,TNAP,TNSALP )
Gene Full Name: alkaline phosphatase, liver/bone/kidney
Band: 1p36.12
Quick LinksEntrez ID:249; OMIM: 171760; Uniprot ID:PPBT_HUMAN; ENSEMBL ID: ENSG00000162551; HGNC ID: 438
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
140N-linked (GlcNAc...) (Potential).
230N-linked (GlcNAc...) (Potential).
271N-linked (GlcNAc...) (Potential).
303N-linked (GlcNAc...) (Potential).
430N-linked (GlcNAc...).
Location(AA) Modifications Resource
140N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
230N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
271N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
303N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
430N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
502GPI-anchor amidated serine (Probable).Swiss-Prot 53.0
Location(AA) Modification Resource
115O-linkedHMM predict
134Phosphothreonine(PKC)HMM predict
140N-linkedHMM predict
145N-linkedHMM predict
173O-linkedHMM predict
173Phosphothreonine(MAPK)HMM predict
230N-linkedHMM predict
236SulfotyrosineHMM predict
271N-linkedHMM predict
303N-linkedHMM predict
364Phosphoserine(IKK)HMM predict
441Phosphotyrosine(Syk)HMM predict
479Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000478
  • Location:chr1 21708444-21777490
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 21708219 21708385 166 143
CTCF CD4SISSRdata 21708219 21708385 166 143
CTCF JurkatGSE12889 21708258 21708445 187 93
CTCF G2GSE9613 21707863 21708441 578 293
ER E2-MCF7GSE14664 21700193 21700231 38 8233
ER Fulvestrant-MCF7GSE14664 21700197 21700235 38 8229
KLF4 hESGSE17917 21702475 21702647 172 5884
KLF4 hESGSE17917 21708136 21708456 320 149
Oct1 HelaGSE14283 21700198 21700236 38 8228
hScc1 BcellGSE12603 21703242 21703509 267 5069
hScc1 CdLSGSE12603 21707824 21708592 768 237
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 21785467 21786762 1295 8624
CTCF G2GSE9613 21783119 21783456 337 5797
CTCF G2GSE9613 21784834 21785052 218 7453
P300 T30-glioblastomaGSE21026 21785549 21786662 1113 8615
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 21773232 21773393 161 0
CTCF JurkatGSE12889 21734011 21734171 160 0
CTCF G2GSE9613 21733999 21734366 367 0
CTCF G2GSE9613 21736481 21736761 280 0
CTCF G2GSE9613 21737378 21737586 208 0
FoxA1 MCF7MACSdata 21733889 21734142 253 0
NRSF JurkatGSE13047 21733714 21734502 788 0
NRSF-mono JurkatQuESTdata 21733713 21734384 671 0
NRSF-poly JurkatQuESTdata 21733842 21734381 539 0
Nanog hESGSE18292 21752432 21752963 531 0
Oct1 HelaGSE14283 21767034 21767061 27 0
P300 T30-glioblastomaGSE21026 21710769 21711544 775 0
Rb GrowingGSE19898 21751916 21752062 146 0
Rb GrowingGSE19898 21773339 21773541 202 0
STAT1 IFNSISSRdata 21745062 21745653 591 0
Sox2 hESGSE18292 21752598 21752862 264 0
TFAP2C MCF7GSE21234 21767513 21767964 451 0
hScc1 BcellGSE12603 21708123 21708887 764 0
hScc1 BcellGSE12603 21733760 21734366 606 0
hScc1 BcellGSE12603 21737378 21737586 208 0
hScc1 BcellGSE12603 21739337 21739766 429 0
hScc1 CdLSGSE12603 21733760 21734366 606 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-195 hsa-mir-195 17 20845893
hsa-miR-195* hsa-mir-195 17 20845893
hsa-miR-26a hsa-mir-26a-1 3 20845893
hsa-miR-26a hsa-mir-26a-2 12 20845893
hsa-miR-30b hsa-mir-30b 8 20845893
hsa-miR-30b* hsa-mir-30b 8 20845893
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved