AutismKB 2.0

Annotation Detail for APAF1


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Basic Information Top
Gene Symbol:APAF1 ( APAF-1,CED4,DKFZp781B1145 )
Gene Full Name: apoptotic peptidase activating factor 1
Band: 12q23.1
Quick LinksEntrez ID:317; OMIM: 602233; Uniprot ID:APAF_HUMAN; ENSEMBL ID: ENSG00000120868; HGNC ID: 576
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
204Phosphothreonine.
238Phosphoserine.
248Phosphoserine.
Location(AA) Modifications Resource
204Phosphothreonine.Swiss-Prot 53.0
204PhosphothreoninePhospho.ELM 6.0
238Phosphoserine.Swiss-Prot 53.0
238PhosphoserinePhospho.ELM 6.0
248Phosphoserine.Swiss-Prot 53.0
248PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
65N-linkedHMM predict
68Phosphotyrosine(INSR)HMM predict
68Phosphotyrosine(EGFR)HMM predict
80Phosphotyrosine(Syk)HMM predict
96Phosphoserine(CDC2)HMM predict
193Phosphoserine(IKK)HMM predict
213Phosphoserine(ATM)HMM predict
268Phosphoserine(PKB)HMM predict
268Phosphoserine(IKK)HMM predict
272Phosphoserine(IKK)HMM predict
320Phosphoserine(CDC2)HMM predict
361SulfotyrosineHMM predict
361Phosphotyrosine(Syk)HMM predict
369Phosphoserine(CK1)HMM predict
420N-linkedHMM predict
449N-linkedHMM predict
451Phosphoserine(ATM)HMM predict
577Phosphotyrosine(SRC)HMM predict
602N-linkedHMM predict
605N-linkedHMM predict
624Phosphoserine(CK1)HMM predict
709N-linkedHMM predict
891Phosphoserine(ATM)HMM predict
896Phosphoserine(IKK)HMM predict
899O-linkedHMM predict
967S-palmitoylHMM predict
968S-palmitoylHMM predict
975Phosphotyrosine(Jak)HMM predict
1060Phosphoserine(CAMK2)HMM predict
1062Phosphoserine(IKK)HMM predict
1103O-linkedHMM predict
1186Phosphoserine(CDC2)HMM predict
1216N-linkedHMM predict
1219N-linkedHMM predict
1226Phosphoserine(CDK)HMM predict
1232Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_181869
  • Location:chr12 97563208-97653334
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 97562991 97563324 333 51
Rb QuiescentGSE19898 97563090 97563236 146 46
Rb shRbSenescenceGSE19898 97562846 97563187 341 192
hScc1 G2GSE9613 97562840 97563338 498 120
p130 shRbSenescentGSE19898 97562514 97563421 907 241
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 97571785 97572208 423 0
CTCF CD4GSE12889 97616884 97617083 199 0
CTCF CD4SISSRdata 97571785 97572208 423 0
CTCF CD4SISSRdata 97616884 97617083 199 0
CTCF G2GSE9613 97571865 97572217 352 0
CTCF G2GSE9613 97616776 97617095 319 0
CTCF G2GSE9613 97627367 97627646 279 0
CTCF G2GSE9613 97643746 97644163 417 0
H3K4me3 colorectalcancer 97563717 97564091 374 0
H3ac HepG2E 97563682 97564263 581 0
Myc K562GSE19551 97616704 97617048 344 0
Oct1 H2O2-HelaGSE14283 97580138 97580181 43 0
Oct1 H2O2-HelaGSE14283 97622295 97622324 29 0
Oct1 HelaGSE14283 97563832 97563861 29 0
STAT1 IFNSISSRdata 97571675 97572190 515 0
hScc1 BcellGSE12603 97571785 97572287 502 0
hScc1 BcellGSE12603 97644003 97644205 202 0
hScc1 CdLSGSE12603 97571648 97572287 639 0
hScc1 CdLSGSE12603 97616669 97617207 538 0
hScc1 CdLSGSE12603 97643785 97644236 451 0
hScc1 G2GSE9613 97571785 97572287 502 0
p130 QuiescentGSE19898 97563106 97563371 265 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-21 hsa-mir-21 17 17991735
hsa-miR-21* hsa-mir-21 17 17991735
No data
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
6484 mRNA APAF1 chr12 97541545 97631678 187 EST chr12 97631491 97647646Sense/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


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