AutismKB 2.0

Annotation Detail for AMBP


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Basic Information Top
Gene Symbol:AMBP ( A1M,EDC1,HCP,HI30,IATIL,ITI,ITIL,ITILC,UTI )
Gene Full Name: alpha-1-microglobulin/bikunin precursor
Band: 9q32
Quick LinksEntrez ID:259; OMIM: 176870; Uniprot ID:AMBP_HUMAN; ENSEMBL ID: ENSG00000106927; HGNC ID: 453
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
24O-linked (GalNAc...).
36N-linked (GlcNAc...) (complex).
115N-linked (GlcNAc...) (complex).
215O-linked (Xyl...) (chondroitin sulfate).
250N-linked (GlcNAc...).
Location(AA) Modifications Resource
24O-linked (GalNAc...)./FTId=CAR
36N-linked (GlcNAc...) (complex).Swiss-Prot 53.0
115N-linked (GlcNAc...) (complex).Swiss-Prot 53.0
215O-linked (Xyl...) (chondroitin sulfate).Swiss-Prot 53.0
250N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
18O-linkedHMM predict
24Phosphothreonine(CDK)HMM predict
75Phosphothreonine(CK2)HMM predict
98Phosphotyrosine(INSR)HMM predict
115N-linkedHMM predict
215Phosphoserine(CK1)HMM predict
250N-linkedHMM predict
337CysteineHMM predict
340ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001633
  • Location:chr9 115862230-115880535
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 115884560 115884897 337 4193
CTCF CD4SISSRdata 115884560 115884897 337 4193
CTCF HelaGSE12889 115884663 115884869 206 4231
ER MCF7GSE19013 115886268 115886822 554 6010
FOXA1 MCF7GSE15244 115882838 115884229 1391 2998
TFAP2C MCF7GSE21234 115882893 115883434 541 2628
USF2 HepG2E 115882127 115883050 923 2053
USF2 HepG2E 115883349 115884598 1249 3438
hScc1 CdLSGSE12603 115884337 115885131 794 4199
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 115875988 115876318 330 0
H3ac HepG2E 115877165 115880515 3350 0
p63 keratinocytesGSE17611 115873005 115873880 875 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