AutismKB 2.0

Annotation Detail for SMAP2


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Basic Information Top
Gene Symbol:SMAP2 ( RP1-228H13.3,SMAP1L )
Gene Full Name: small ArfGAP2
Band: 1p34.2
Quick LinksEntrez ID:64744; OMIM: NA; Uniprot ID:SMAP2_HUMAN; ENSEMBL ID: ENSG00000084070; HGNC ID: 25082
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
219Phosphoserine.
225Phosphoserine.
240Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022733
  • Location:chr1 40612314-40661578
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 40594031 40594071 40 18264
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 40665180 40665229 49 3626
Oct1 HelaGSE14283 40665192 40665227 35 3631
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 40643039 40643439 400 0
H3K4me3 colorectalcancer 40612809 40613311 502 0
H3ac HepG2E 40612303 40613568 1265 0
H3ac HepG2E 40615577 40616071 494 0
H3ac HepG2E 40621717 40622123 406 0
H3ac HepG2E 40622925 40623375 450 0
H3ac HepG2E 40623624 40624057 433 0
H3ac HepG2E 40627431 40628003 572 0
H3ac HepG2E 40628905 40629447 542 0
NFkBII GM12878GSE19485 40621578 40625194 3616 0
Oct1 H2O2-HelaGSE14283 40628588 40628621 33 0
Oct1 HelaGSE14283 40619850 40619889 39 0
Oct1 HelaGSE14283 40636782 40636817 35 0
PHF8 HeLaGSE20725 40611506 40613350 1844 0
Rb QuiescentGSE19898 40612802 40613023 221 0
TAF k562GSE8489 40612543 40614164 1621 0
TAF k562GSE8489 40621717 40622123 406 0
TAF k562GSE8489 40622787 40625083 2296 0
TFAP2C MCF7GSE21234 40649531 40649865 334 0
USF2 HepG2E 40659476 40660437 961 0
hScc1 BcellGSE12603 40612963 40613203 240 0
hScc1 BcellGSE12603 40622994 40623447 453 0
hScc1 BcellGSE12603 40642970 40643439 469 0
hScc1 CdLSGSE12603 40612809 40613346 537 0
hScc1 CdLSGSE12603 40642859 40643439 580 0
hScc1 G2GSE9613 40642970 40643439 469 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