AutismKB 2.0

Annotation Detail for AASS


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Basic Information Top
Gene Symbol:AASS ( LKR/SDH,LKRSDH,LORSDH )
Gene Full Name: aminoadipate-semialdehyde synthase
Band: 7q31.32
Quick LinksEntrez ID:10157; OMIM: 605113; Uniprot ID:AASS_HUMAN; ENSEMBL ID: ENSG00000008311; HGNC ID: 17366
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
707N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
72Phosphotyrosine(Jak)HMM predict
72Phosphotyrosine(INSR)HMM predict
190N-linkedHMM predict
279Phosphotyrosine(SRC)HMM predict
335Phosphoserine(CDC2)HMM predict
441Phosphoserine(CDC2)HMM predict
452N-linkedHMM predict
464Phosphothreonine(PKC)HMM predict
474Phosphoserine(PKG)HMM predict
589Phosphoserine(CK2)HMM predict
589Phosphoserine(CK1)HMM predict
708Phosphotyrosine(INSR)HMM predict
708Phosphotyrosine(Syk)HMM predict
771Phosphoserine(CDC2)HMM predict
827Phosphoserine(PKG)HMM predict
828Phosphotyrosine(Jak)HMM predict
893O-linkedHMM predict
911IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005763
  • Location:chr7 121503422-121561111
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 121570977 121571272 295 10013
H3K4me3 colorectalcancer 121570183 121570494 311 9227
H3K4me3 colorectalcancer 121571768 121572184 416 10865
Oct1 HelaGSE14283 121564472 121564500 28 3375
Oct1 HelaGSE14283 121580027 121580059 32 18932
Rb SenescentGSE19898 121571328 121571654 326 10380
hScc1 BcellGSE12603 121571169 121571527 358 10237
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 121497774 121498032 258 5520
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 121520379 121520599 220 0
CTCF G2GSE9613 121520111 121520522 411 0
Oct1 H2O2-HelaGSE14283 121509526 121509560 34 0
Oct1 H2O2-HelaGSE14283 121530523 121530551 28 0
Oct1 HelaGSE14283 121509497 121509563 66 0
hScc1 BcellGSE12603 121520285 121520522 237 0
hScc1 CdLSGSE12603 121520111 121520522 411 0
hScc1 G2GSE9613 121520179 121520522 343 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