AutismKB 2.0

Annotation Detail for CASP7


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CASP7 ( CMH-1,ICE-LAP3,MCH3 )
Gene Full Name: caspase 7, apoptosis-related cysteine peptidase
Band: 10q25.3
Quick LinksEntrez ID:840; OMIM: 601761; Uniprot ID:CASP7_HUMAN; ENSEMBL ID: ENSG00000165806; HGNC ID: 1508
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
16Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
30Phosphoserine(IKK)HMM predict
42N-linkedHMM predict
50Phosphothreonine(PKC)HMM predict
88N-linkedHMM predict
127Phosphoserine(CK2)HMM predict
139S-palmitoylHMM predict
203N-linkedHMM predict
208N-linkedHMM predict
277Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_033338
  • Location:chr10 115429415-115480651
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 115430119 115431032 913 0
NFkBII GM12878GSE19485 115429485 115433791 4306 0
NRSF-mono JurkatQuESTdata 115466446 115466796 350 0
P300 T30-glioblastomaGSE21026 115458880 115459700 820 0
Sox2 hESGSE18292 115454934 115455122 188 0
TFAP2C MCF7GSE21234 115451605 115451875 270 0
hScc1 BcellGSE12603 115461522 115461690 168 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-125b hsa-mir-125b-1 11 18056640
hsa-miR-125b hsa-mir-125b-2 21 18056640
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