AutismKB 2.0

Annotation Detail for CPS1


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Basic Information Top
Gene Symbol:CPS1 ( CPSASE1 )
Gene Full Name: carbamoyl-phosphate synthase 1, mitochondrial
Band: 2q34
Quick LinksEntrez ID:1373; OMIM: 608307; Uniprot ID:CPSM_HUMAN; ENSEMBL ID: ENSG00000021826; HGNC ID: 2323
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
55N6-acetyllysine (By similarity).
119N6-acetyllysine (By similarity).
287N6-acetyllysine (By similarity).
527N6-acetyllysine (By similarity).
841N6-acetyllysine (By similarity).
892N6-acetyllysine (By similarity).
898Phosphoserine (By similarity).
1291N6-acetyllysine (By similarity).
Location(AA) Modifications Resource
55N6-acetyllysine (By similarity).Swiss-Prot 53.0
119N6-acetyllysine (By similarity).Swiss-Prot 53.0
287N6-acetyllysine (By similarity).Swiss-Prot 53.0
527N6-acetyllysine (By similarity).Swiss-Prot 53.0
841N6-acetyllysine (By similarity).Swiss-Prot 53.0
892N6-acetyllysine (By similarity).Swiss-Prot 53.0
898Phosphoserine (By similarity).Swiss-Prot 53.0
1291N6-acetyllysine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
22N-linkedHMM predict
80Phosphotyrosine(EGFR)HMM predict
140SulfotyrosineHMM predict
216N-linkedHMM predict
324N-linkedHMM predict
327N-linkedHMM predict
381Phosphothreonine(MAPK)HMM predict
404Phosphothreonine(PKA)HMM predict
446Phosphoserine(ATM)HMM predict
634Phosphotyrosine(SRC)HMM predict
634Phosphotyrosine(Jak)HMM predict
683Phosphothreonine(PKA)HMM predict
684Phosphoserine(PKG)HMM predict
720Phosphoserine(PKG)HMM predict
844Phosphoserine(CK1)HMM predict
847Phosphoserine(CK1)HMM predict
863Phosphoserine(CK2)HMM predict
863Phosphoserine(CK1)HMM predict
957Phosphotyrosine(Jak)HMM predict
1002Phosphothreonine(PKC)HMM predict
1036Phosphoserine(CK1)HMM predict
1216Phosphoserine(ATM)HMM predict
1295Phosphothreonine(PKA)HMM predict
1417N-linkedHMM predict
1441N-linkedHMM predict
1442N-linkedHMM predict
1495Phosphoserine(PKC)HMM predict
1498LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001875
  • Location:chr2 211129582-211252073
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PolII HeLaGSE12783 211243162 211261397 18235 206
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 211150596 211150803 207 0
CTCF CD4SISSRdata 211150596 211150803 207 0
GABP k562GSE8489 211162302 211162482 180 0
Nanog ESGSE20650 211130600 211131130 530 0
Nanog ESGSE20650 211193495 211193973 478 0
Nanog hESGSE18292 211150573 211150775 202 0
PolII HeLaGSE12783 211129118 211135248 6130 0
PolII HeLaGSE12783 211144083 211170421 26338 0
PolII HeLaGSE12783 211187769 211195110 7341 0
PolII HeLaGSE12783 211199354 211201642 2288 0
STAT1 HeLaGSE12783 211236324 211237307 983 0
TAF HelaGSE8489 211130116 211130613 497 0
TAF HelaGSE8489 211131427 211132014 587 0
hScc1 CdLSGSE12603 211190690 211191091 401 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