AutismKB 2.0

Annotation Detail for ASS1


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Basic Information Top
Gene Symbol:ASS1 ( ASS,CTLN1 )
Gene Full Name: argininosuccinate synthase 1
Band: 9q34.11
Quick LinksEntrez ID:445; OMIM: 603470; Uniprot ID:ASSY_HUMAN; ENSEMBL ID: ENSG00000130707; HGNC ID: 758
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
165N6-acetyllysine.
352Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
29Phosphotyrosine(INSR)HMM predict
29Phosphotyrosine(Syk)HMM predict
83Phosphotyrosine(Syk)HMM predict
174Phosphothreonine(CDC2)HMM predict
180Phosphoserine(IKK)HMM predict
219Phosphothreonine(MAPK)HMM predict
282Phosphotyrosine(INSR)HMM predict
282Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000050
  • Location:chr9 132309914-132366480
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 132296826 132297015 189 12994
TFAP2C MCF7GSE21234 132297518 132298483 965 11914
hScc1 BcellGSE12603 132298293 132298852 559 11342
p63 keratinocytesGSE17611 132292036 132292907 871 17443
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 132366843 132367288 445 585
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 132326352 132326718 366 0
CTCF CD4SISSRdata 132326352 132326718 366 0
CTCF JurkatGSE12889 132326412 132326752 340 0
ER MCF7GSE19013 132315873 132316587 714 0
FOXA1 MCF7GSE15244 132312247 132312777 530 0
Myc K562GSE19551 132313146 132313761 615 0
Myc K562GSE19551 132345875 132346204 329 0
Nanog hESGSE18292 132346897 132347268 371 0
PAX3-FKHR Rh4GSE19063 132343737 132345257 1520 0
Rb GrowingGSE19898 132326496 132326650 154 0
Rb QuiescentGSE19898 132326430 132326811 381 0
Rb SenescentGSE19898 132326425 132326757 332 0
Rb shRbSenescenceGSE19898 132326415 132326680 265 0
Sox2 hESGSE18292 132347022 132347200 178 0
TFAP2C MCF7GSE21234 132310602 132313747 3145 0
TFAP2C MCF7GSE21234 132315982 132317343 1361 0
hScc1 BcellGSE12603 132309702 132310226 524 0
hScc1 BcellGSE12603 132326341 132326879 538 0
hScc1 BcellGSE12603 132344139 132344531 392 0
hScc1 BcellGSE12603 132354945 132355392 447 0
hScc1 BcellGSE12603 132358648 132358903 255 0
hScc1 G2GSE9613 132325976 132327161 1185 0
p130 shRbQuiescentGSE19898 132313124 132313491 367 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
27118 mRNA ASS chr9 130355212 130406214 102 mRNA chr9 130374662 130376650Sense/Antisense (SA) pairs

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


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