AutismKB 2.0

Annotation Detail for ADSS


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Basic Information Top
Gene Symbol:ADSS ( ADEH,MGC20404 )
Gene Full Name: adenylosuccinate synthase
Band: 1q44
Quick LinksEntrez ID:159; OMIM: 103060; Uniprot ID:PURA2_HUMAN; ENSEMBL ID: ENSG00000035687; HGNC ID: 292
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
22MethylarginineHMM predict
90N-linkedHMM predict
223Phosphotyrosine(INSR)HMM predict
270O-linkedHMM predict
272Phosphoserine(IKK)HMM predict
273N-linkedHMM predict
275O-linkedHMM predict
332Phosphothreonine(PKC)HMM predict
428Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001126
  • Location:chr1 242638419-242682035
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 242681929 242682448 519 153
ETS1 JurkatGSE17954 242681608 242682776 1168 157
LIN9 G0GSE7516 242681929 242682448 519 153
Rb QuiescentGSE19898 242682132 242682263 131 162
Rb SenescentGSE19898 242681750 242682361 611 20
p130 QuiescentGSE19898 242681918 242682397 479 122
p130 SenescentGSE19898 242681890 242682403 513 111
p130 shRbSenescentGSE19898 242681721 242682388 667 19
p130 G0GSE7516 242681965 242682448 483 171
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 242681144 242682060 916 0
H3K4me3 colorectalcancer 242679913 242681593 1680 0
H3ac HepG2E 242680380 242681248 868 0
PHF8 HeLaGSE20725 242680703 242682134 1431 0
Rb QuiescentGSE19898 242681841 242682104 263 0
TAF k562GSE8489 242678996 242679879 883 0
TAF k562GSE8489 242680344 242680983 639 0
hScc1 BcellGSE12603 242681018 242682198 1180 0
hScc1 CdLSGSE12603 242681144 242682448 1304 0
hScc1 G2GSE9613 242680983 242682060 1077 0
p130 shRbQuiescentGSE19898 242681806 242682264 458 0
p63 keratinocytesGSE17611 242674736 242675357 621 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1026 Unknown pSILAC miR-16 ADSS down 75-50% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000035687 n_a n_a n_a n_a n_a
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