AutismKB 2.0

Annotation Detail for SCCPDH


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Basic Information Top
Gene Symbol:SCCPDH ( FLJ43187,NET11,RP11-439E19.2 )
Gene Full Name: saccharopine dehydrogenase (putative)
Band: 1q44
Quick LinksEntrez ID:51097; OMIM: NA; Uniprot ID:SCPDH_HUMAN; ENSEMBL ID: ENSG00000143653; HGNC ID: 24275
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
171N-linkedHMM predict
215N-linkedHMM predict
218N-linkedHMM predict
259Phosphothreonine(PKA)HMM predict
339O-linkedHMM predict
346Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016002
  • Location:chr1 244954000-244998059
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 244939652 244939927 275 14211
Fos K562GSE19551 244942253 244942815 562 11467
RARA MCF7GSE15244 244939652 244939927 275 14211
TFAP2C MCF7GSE21234 244953651 244954168 517 91
USF1 HepG2E 244939687 244939927 240 14194
USF2 HepG2E 244939687 244939927 240 14194
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct4 hESGSE21916 244998295 244998767 472 472
TFAP2C MCF7GSE21234 245003264 245003780 516 5463
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 244983908 244984123 215 0
CTCF CD4SISSRdata 244983908 244984123 215 0
CTCF G2GSE9613 244953861 244954674 813 0
FoxA1 MCF7MACSdata 244956423 244956577 154 0
H3K4me3 colorectalcancer 244954960 244955834 874 0
H3ac HepG2E 244954886 244955834 948 0
H3ac HepG2E 244972746 244972988 242 0
Myc K562GSE19551 244978744 244979157 413 0
PHF8 HeLaGSE20725 244953512 244955141 1629 0
RARA MCF7GSE15244 244994883 244995176 293 0
Rb QuiescentGSE19898 244954587 244955074 487 0
Rb SenescentGSE19898 244954686 244955028 342 0
Rb shRbQuiescentGSE19898 244954322 244954509 187 0
TAF k562GSE8489 244954846 244955834 988 0
TFAP2C MCF7GSE21234 244965479 244965984 505 0
TFAP2C MCF7GSE21234 244978754 244979296 542 0
hScc1 BcellGSE12603 244953981 244954483 502 0
hScc1 G2GSE9613 244953861 244954638 777 0
p130 QuiescentGSE19898 244954231 244954510 279 0
p130 shRbSenescentGSE19898 244954255 244954586 331 0
p130 shRbSenescentGSE19898 244954620 244955082 462 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