AutismKB 2.0

Annotation Detail for CTSD


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Basic Information Top
Gene Symbol:CTSD ( CLN10,CPSD,MGC2311 )
Gene Full Name: cathepsin D
Band: 11p15.5
Quick LinksEntrez ID:1509; OMIM: 116840; Uniprot ID:CATD_HUMAN; ENSEMBL ID: ENSG00000117984; HGNC ID: 2529
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
134N-linked (GlcNAc...).
263N-linked (GlcNAc...).
Location(AA) Modifications Resource
134N-linked (GlcNAc...).Swiss-Prot 53.0
263N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
55Phosphotyrosine(Jak)HMM predict
63O-linkedHMM predict
74Phosphotyrosine(INSR)HMM predict
131Phosphotyrosine(INSR)HMM predict
134N-linkedHMM predict
150Phosphotyrosine(INSR)HMM predict
152Phosphoserine(ATM)HMM predict
263N-linkedHMM predict
334Phosphothreonine(PKC)HMM predict
354Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001909
  • Location:chr11 1730560-1741797
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 1741452 1742021 569 0
NRSF pAbJurkat 1732579 1732774 195 0
NRSF pAbJurkat 1735433 1737015 1582 0
NRSF pAbJurkat 1738242 1738952 710 0
NRSF pAbJurkat 1740442 1740836 394 0
TFAP2C MCF7GSE21234 1733304 1734417 1113 0
TFAP2C MCF7GSE21234 1740064 1741008 944 0
USF1 HepG2E 1740334 1740744 410 0
hScc1 BcellGSE12603 1732579 1732813 234 0
hScc1 BcellGSE12603 1734927 1735331 404 0
hScc1 BcellGSE12603 1735796 1737051 1255 0
hScc1 BcellGSE12603 1738276 1739333 1057 0
hScc1 BcellGSE12603 1739779 1740135 356 0
hScc1 BcellGSE12603 1741026 1742119 1093 0
hScc1 CdLSGSE12603 1741434 1742119 685 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-125a-3p hsa-mir-125a 19 19950226
hsa-miR-125a-5p hsa-mir-125a 19 19950226
hsa-miR-140-3p hsa-mir-140 16 19950226
hsa-miR-140-5p hsa-mir-140 16 19950226
hsa-miR-149 hsa-mir-149 2 19950226
hsa-miR-149* hsa-mir-149 2 19950226
hsa-miR-27a hsa-mir-27a 19 19950226
hsa-miR-27a* hsa-mir-27a 19 19950226
hsa-miR-423-3p hsa-mir-423 17 19950226
hsa-miR-423-5p hsa-mir-423 17 19950226
hsa-miR-92a hsa-mir-92a-1 13 19950226
hsa-miR-92a-1* hsa-mir-92a-1 13 19950226
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