AutismKB 2.0

Annotation Detail for ADAM30


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Basic Information Top
Gene Symbol:ADAM30 ( svph4 )
Gene Full Name: ADAM metallopeptidase domain 30
Band: 1p12
Quick LinksEntrez ID:11085; OMIM: 604779; Uniprot ID:ADA30_HUMAN; ENSEMBL ID: ENSG00000134249; HGNC ID: 208
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
177Cysteine switch (By similarity).
222N-linked (GlcNAc...) (Potential).
372N-linked (GlcNAc...) (Potential).
438N-linked (GlcNAc...) (Potential).
473N-linked (GlcNAc...) (Potential).
625N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
222N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
372N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
438N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
473N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
625N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
60Phosphoserine(MAPK)HMM predict
92Phosphoserine(PKC)HMM predict
105Phosphotyrosine(INSR)HMM predict
152Phosphoserine(CDC2)HMM predict
175Phosphoserine(CK2)HMM predict
372N-linkedHMM predict
427S-palmitoylHMM predict
444S-palmitoylHMM predict
445S-palmitoylHMM predict
473N-linkedHMM predict
479N-linkedHMM predict
482Phosphotyrosine(Syk)HMM predict
625N-linkedHMM predict
672Phosphoserine(ATM)HMM predict
730Phosphothreonine(CK2)HMM predict
748Phosphothreonine(CK2)HMM predict
757Phosphothreonine(CK2)HMM predict
766Phosphothreonine(CK2)HMM predict
783LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021794
  • Location:chr1 120237678-120240635
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 120241359 120241388 29 738
Oct1 HelaGSE14283 120241359 120241388 29 738
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 120230408 120230571 163 7189
CTCF CD4SISSRdata 120230408 120230571 163 7189
CTCF G2GSE9613 120230317 120230642 325 7199
Gata2 K562GSE18868 120218206 120218747 541 19202
Oct1 HelaGSE14283 120227715 120227747 32 9948
Oct1 HelaGSE14283 120228038 120228091 53 9614
RARA MCF7GSE15244 120231408 120231653 245 6148
hScc1 BcellGSE12603 120224176 120224484 308 13349
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 120237763 120238449 686 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