AutismKB 2.0

Annotation Detail for CPT1B


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Basic Information Top
Gene Symbol:CPT1B ( CPT1-M,CPT1M,CPTI,CPTI-M,FLJ55729,FLJ58750,KIAA1670,M-CPT1,MCCPT1,MCPT1 )
Gene Full Name: carnitine palmitoyltransferase 1B (muscle)
Band: 22q13.33
Quick LinksEntrez ID:1375; OMIM: 601987; Uniprot ID:CPT1B_HUMAN; ENSEMBL ID: ENSG00000205560; HGNC ID: 2329
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
15PhosphothreonineHMM predict
100Phosphothreonine(MAPK)HMM predict
100Phosphothreonine(CDK)HMM predict
147N-linkedHMM predict
182O-linkedHMM predict
201Phosphotyrosine(INSR)HMM predict
201Phosphotyrosine(Jak)HMM predict
201Phosphotyrosine(Syk)HMM predict
201PhosphotyrosineHMM predict
202Phosphotyrosine(Syk)HMM predict
202SulfotyrosineHMM predict
256Phosphotyrosine(Syk)HMM predict
314N-linkedHMM predict
372Phosphoserine(IKK)HMM predict
372Phosphoserine(ATM)HMM predict
426SulfotyrosineHMM predict
428SulfotyrosineHMM predict
435Phosphoserine(CK1)HMM predict
565Phosphoserine(MAPK)HMM predict
594Phosphothreonine(PKC)HMM predict
604Phosphothreonine(PKC)HMM predict
607O-linkedHMM predict
610Phosphoserine(CK1)HMM predict
679Phosphoserine(CK1)HMM predict
741Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004377
  • Location:chr22 49354156-49363743
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 49348009 49348293 284 6006
CTCF CD4SISSRdata 49348009 49348293 284 6006
CTCF G2GSE9613 49347988 49348339 351 5993
H3ac HepG2E 49348451 49349403 952 5230
PHF8 293TGSE20725 49347867 49348627 760 5910
Rb GrowingGSE19898 49348064 49348383 319 5933
Rb QuiescentGSE19898 49348079 49348292 213 5971
Rb SenescentGSE19898 49348144 49348381 237 5894
TAFII hESGSE17917 49348043 49348455 412 5908
hScc1 BcellGSE12603 49347988 49348600 612 5863
hScc1 CdLSGSE12603 49347988 49348600 612 5863
p130 SenescentGSE19898 49348207 49348512 305 5797
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 49360830 49361959 1129 0
Myc K562GSE19551 49361328 49361855 527 0
TFAP2C MCF7GSE21234 49353863 49354574 711 0
TFAP2C MCF7GSE21234 49361214 49361690 476 0
hScc1 BcellGSE12603 49363121 49363817 696 0
hScc1 G2GSE9613 49361107 49362031 924 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
17675 mRNA chr22 49299571 49301026 568 mRNA CPT1B chr22 49297433 49307022Sense/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