AutismKB 2.0

Annotation Detail for CBS


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Basic Information Top
Gene Symbol:CBS ( HIP4 )
Gene Full Name: cystathionine-beta-synthase
Band: 21q22.3
Quick LinksEntrez ID:875; OMIM: 613381; Uniprot ID:CBS_HUMAN; ENSEMBL ID: ENSG00000160200; HGNC ID: 1550
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
19Phosphoserine.
119N6-(pyridoxal phosphate)lysine.
Location(AA) Modifications Resource
211Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO).Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphothreonine(MAPK)HMM predict
23Phosphoserine(IKK)HMM predict
61O-linkedHMM predict
294N-linkedHMM predict
301Phosphotyrosine(SRC)HMM predict
301Phosphotyrosine(INSR)HMM predict
301Phosphotyrosine(Syk)HMM predict
352O-linkedHMM predict
428O-linkedHMM predict
524Phosphoserine(CDC2)HMM predict
525Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000071
  • Location:chr21 43346371-43369492
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 43369387 43369841 454 122
p130 SenescentGSE19898 43373080 43373553 473 3824
p130 shRbSenescentGSE19898 43373258 43373597 339 3935
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 43342634 43343459 825 3325
RARA MCF7GSE15244 43338648 43339498 850 7299
TFAP2C MCF7GSE21234 43338460 43339876 1416 7204
p130 shRbQuiescentGSE19898 43338296 43338858 562 7795
p130 shRbSenescentGSE19898 43338718 43338864 146 7581
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 43347027 43347250 223 0
Rb QuiescentGSE19898 43368319 43368673 354 0
Rb SenescentGSE19898 43368760 43368966 206 0
TFAP2C MCF7GSE21234 43368205 43368671 466 0
hScc1 BcellGSE12603 43349502 43350043 541 0
hScc1 BcellGSE12603 43356860 43357283 423 0
hScc1 BcellGSE12603 43359216 43359625 409 0
hScc1 BcellGSE12603 43361493 43361867 374 0
hScc1 BcellGSE12603 43367670 43368200 530 0
p130 SenescentGSE19898 43368203 43368715 512 0
p130 shRbSenescentGSE19898 43368544 43368697 153 0
p130 shRbSenescentGSE19898 43368769 43369019 250 0
p63 keratinocytesGSE17611 43345943 43346823 880 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 19431195
hsa-let-7a hsa-let-7a-2 11 19431195
hsa-let-7a hsa-let-7a-3 22 19431195
hsa-let-7a* hsa-let-7a-1 9 19431195
hsa-let-7a* hsa-let-7a-3 22 19431195
hsa-let-7b hsa-let-7b 22 19431195
hsa-let-7b* hsa-let-7b 22 19431195
hsa-let-7c hsa-let-7c 21 19431195
hsa-let-7c* hsa-let-7c 21 19431195
hsa-let-7d hsa-let-7d 9 19431195
hsa-let-7d* hsa-let-7d 9 19431195
hsa-let-7e hsa-let-7e 19 19431195
hsa-let-7e* hsa-let-7e 19 19431195
hsa-let-7f hsa-let-7f-1 9 19431195
hsa-let-7f hsa-let-7f-2 X 19431195
hsa-let-7f-1* hsa-let-7f-1 9 19431195
hsa-let-7f-2* hsa-let-7f-2 X 19431195
hsa-let-7g hsa-let-7g 3 19431195
hsa-let-7g* hsa-let-7g 3 19431195
hsa-let-7i hsa-let-7i 12 19431195
hsa-let-7i* hsa-let-7i 12 19431195
No data
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