AutismKB 2.0

Annotation Detail for STAMBP


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:STAMBP ( AMSH,MGC126516,MGC126518 )
Gene Full Name: STAM binding protein
Band: 2p13.1
Quick LinksEntrez ID:10617; OMIM: 606247; Uniprot ID:STABP_HUMAN; ENSEMBL ID: ENSG00000124356; HGNC ID: 16950
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2Phosphoserine.
48Phosphoserine.
243Phosphoserine.
245Phosphoserine.
247Phosphoserine.
348JAMM motif.
Location(AA) Modifications Resource
2Phosphoserine.Swiss-Prot 53.0
2PhosphoserinePhospho.ELM 6.0
48Phosphoserine.Swiss-Prot 53.0
48PhosphoserinePhospho.ELM 6.0
243Phosphoserine.Swiss-Prot 53.0
243PhosphoserinePhospho.ELM 6.0
245Phosphoserine.Swiss-Prot 53.0
245PhosphoserinePhospho.ELM 6.0
247Phosphoserine.Swiss-Prot 53.0
247PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
51Phosphoserine(CK1)HMM predict
91Phosphothreonine(PKC)HMM predict
121Phosphotyrosine(Syk)HMM predict
121SulfotyrosineHMM predict
215O-linkedHMM predict
243Phosphoserine(PKG)HMM predict
247Phosphoserine(CK1)HMM predict
355SulfotyrosineHMM predict
409SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_201647
  • Location:chr2 73909593-73943517
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 73904614 73904945 331 4814
CTCF CD4SISSRdata 73904614 73904945 331 4814
CTCF G2GSE9613 73904344 73905080 736 4882
ETS1 JurkatGSE17954 73908847 73910335 1488 3
Fos K562GSE19551 73909130 73909801 671 128
GABP k562GSE8489 73907657 73909429 1772 1051
Oct1 HelaGSE14283 73906525 73906560 35 3051
P300 T0-glioblastomaGSE21026 73908786 73909832 1046 285
RNAII Tamoxifen-MCF7GSE14664 73898026 73898144 118 11509
TAF HelaGSE8489 73898991 73899182 191 10507
hScc1 BcellGSE12603 73904425 73904948 523 4907
hScc1 CdLSGSE12603 73904344 73905080 736 4882
hScc1 G2GSE9613 73904380 73905117 737 4845
No data
No data
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
14473 mRNA STAMBP chr2 73967781 74001665 122 EST chr2 73988096 73995709Sense/Antisense (SA) pairs

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