AutismKB 2.0

Annotation Detail for SAV1


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Basic Information Top
Gene Symbol:SAV1 ( SAV,WW45,WWP4 )
Gene Full Name: salvador homolog 1 (Drosophila)
Band: 14q22.1
Quick LinksEntrez ID:60485; OMIM: 607203; Uniprot ID:SAV1_HUMAN; ENSEMBL ID: ENSG00000151748; HGNC ID: 17795
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
26Phosphothreonine.
27Phosphoserine.
56Phosphoserine.
90Phosphoserine.
94Phosphoserine.
136Phosphoserine.
186Phosphothreonine.
210Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
7Phosphothreonine(PKC)HMM predict
26Phosphothreonine(PKA)HMM predict
48Phosphothreonine(PKA)HMM predict
94Phosphoserine(PKG)HMM predict
156SulfotyrosineHMM predict
161SulfotyrosineHMM predict
190N-linkedHMM predict
193N-linkedHMM predict
223N-linkedHMM predict
245PhosphoserineHMM predict
252Phosphotyrosine(EGFR)HMM predict
273Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021818
  • Location:chr14 50170109-50204772
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 50204133 50205612 1479 100
Pol2 GM12878GSE19551 50204164 50205475 1311 47
RARG MCF7GSE15244 50206075 50206550 475 1540
TAF HelaGSE8489 50204989 50206916 1927 1180
TAF k562GSE8489 50205100 50206916 1816 1236
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 50204353 50205065 712 0
H3K4me3 colorectalcancer 50203544 50204227 683 0
H3ac HepG2E 50202883 50204286 1403 0
Nanog ESGSE20650 50194703 50195024 321 0
Nanog hESGSE18292 50194574 50195141 567 0
Oct1 HelaGSE14283 50173908 50173935 27 0
TAF HelaGSE8489 50202633 50204155 1522 0
TAF k562GSE8489 50201182 50202103 921 0
TAF k562GSE8489 50202514 50203904 1390 0
hScc1 BcellGSE12603 50204083 50204845 762 0
hScc1 CdLSGSE12603 50204227 50204952 725 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