AutismKB 2.0

Annotation Detail for CTSH


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Basic Information Top
Gene Symbol:CTSH ( ACC-4,ACC-5,CPSB,DKFZp686B24257,MGC1519,minichain )
Gene Full Name: cathepsin H
Band: 15q25.1
Quick LinksEntrez ID:1512; OMIM: 116820; Uniprot ID:CATH_HUMAN; ENSEMBL ID: ENSG00000103811; HGNC ID: 2535
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
101N-linked (GlcNAc...).
230N-linked (GlcNAc...).
Location(AA) Modifications Resource
101N-linked (GlcNAc...).Swiss-Prot 53.0
230N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
45Phosphothreonine(PKA)HMM predict
101N-linkedHMM predict
130Phosphoserine(CDC2)HMM predict
230N-linkedHMM predict
268O-linkedHMM predict
270O-linkedHMM predict
275Phosphothreonine(CDC2)HMM predict
320AsparagineHMM predict
322S-farnesylHMM predict
329SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004390
  • Location:chr15 77001162-77024474
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 77026905 77027126 221 2541
CTCF G2GSE9613 77030811 77031140 329 6501
FOXA1 MCF7GSE15244 77031027 77031713 686 6896
FOXA1 eGFPGSE10845 77031027 77031745 718 6912
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 76989125 76989748 623 11726
VDR GM10855-stimGSE22484 76998538 77002722 4184 533
hScc1 BcellGSE12603 76988904 76989936 1032 11743
hScc1 BcellGSE12603 76992661 76992910 249 8377
hScc1 CdLSGSE12603 76989050 76989748 698 11764
hScc1 G2GSE9613 76989125 76989710 585 11745
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 77008991 77009133 142 0
CTCF G2GSE9613 77010930 77011420 490 0
CTCF G2GSE9613 77013215 77013359 144 0
ER E2-MCF7GSE14664 77017302 77017335 33 0
Fos K562GSE19551 77016486 77017044 558 0
H3ac HepG2E 77022039 77022620 581 0
H3ac HepG2E 77023210 77024072 862 0
NFkBII GM10847GSE19485 77023456 77024862 1406 0
NFkBII GM12878GSE19485 77016430 77020094 3664 0
RARA MCF7GSE15244 77009993 77012001 2008 0
VDR GM10855-UnstimGSE22484 76998564 77004196 5632 0
hScc1 BcellGSE12603 77007995 77008121 126 0
hScc1 BcellGSE12603 77008757 77009589 832 0
hScc1 BcellGSE12603 77011612 77012113 501 0
hScc1 BcellGSE12603 77023846 77024705 859 0
p63 keratinocytesGSE17611 77009979 77010999 1020 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