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
Unigene EST Top
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204859_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts22.9
Adipocyte13.95
AdrenalCortex24.35
Adrenalgland15.35
Amygdala14.2
Appendix24.95
AtrioventricularNode38.95
BDCA4+_DentriticCells75.5
Bonemarrow21.55
BronchialEpithelialCells15.35
CD105+_Endothelial24.6
CD14+_Monocytes200.85
CD19+_BCells(neg._sel.)30.6
CD33+_Myeloid194.9
CD34+25.8
CD4+_Tcells16.05
CD56+_NKCells66.3
CD71+_EarlyErythroid15.5
CD8+_Tcells22.5
CardiacMyocytes39.7
Caudatenucleus12.95
Cerebellum10.35
CerebellumPeduncles21.55
CiliaryGanglion19.6
CingulateCortex15.95
Colorectaladenocarcinoma15.4
DorsalRootGanglion18.65
FetalThyroid17.45
Fetalbrain15.9
Fetalliver14.85
Fetallung12.95
GlobusPallidus13.95
Heart31.25
Hypothalamus14.15
Kidney14.9
Leukemia_chronicMyelogenousK-56214.5
Leukemia_promyelocytic-HL-6013.15
Leukemialymphoblastic(MOLT-4)15.6
Liver24.1
Lung15.2
Lymphnode13.35
Lymphoma_burkitts(Daudi)27.85
Lymphoma_burkitts(Raji)25.4
MedullaOblongata11.2
OccipitalLobe11
OlfactoryBulb12.5
Ovary14
Pancreas15
PancreaticIslet18.05
ParietalLobe16.5
Pituitary18.6
Placenta15
Pons14.75
PrefrontalCortex16.9
Prostate17.7
Salivarygland14.45
SkeletalMuscle32.7
Skin31.3
SmoothMuscle24
Spinalcord16
SubthalamicNucleus17.15
SuperiorCervicalGanglion32.45
TemporalLobe14.15
Testis11.9
TestisGermCell11.2
TestisIntersitial13.1
TestisLeydigCell18.05
TestisSeminiferousTubule12.5
Thalamus15.45
Thymus12.05
Thyroid17.85
Tongue21.65
Tonsil16.9
Trachea11.95
TrigeminalGanglion27.05
Uterus12.65
UterusCorpus19.9
WholeBlood155.45
Wholebrain9.7
colon16.2
pineal_day25.22
pineal_night20.82
retina17.45
small_intestine15.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1241_PI416573500
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala6.89 ± 0.28
Basal Forebrain6.6 ± 0.17
Basal Part of Pons6.5 ± 0.25
Cerebellar Cortex6.8 ± 0.14
Cerebellar Nuclei6.65 ± 0.17
Claustrum6.67 ± 0.38
Epithalamus7.07 ± 0.23
Frontal Lobe6.45 ± 0.28
Globus Pallidus6.7 ± 0.08
Hypothalamus6.57 ± 0.32
Insula6.75 ± 0.24
Limbic Lobe6.62 ± 0.35
Mesencephalon6.53 ± 0.25
Myelencephalon6.54 ± 0.32
Occipital Lobe6.61 ± 0.2
Parietal Lobe6.55 ± 0.27
Pontine Tegmentum6.55 ± 0.3
Striatum6.21 ± 0.24
Subthalamus6.24 ± 0.22
Temporal Lobe6.67 ± 0.25
Thalamus6.49 ± 0.26
White Matter7.18 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Apaf1CBCerebellum100
100
Apaf1CTXCerebral cortex98.36
94.42
Apaf1HIPHippocampal region45.3
51.77
Apaf1HPFHippocampal formation63.01
66.1
Apaf1HYHypothalamus26.14
21.85
Apaf1LSXLateral septal complex13.34
12.37
Apaf1MBMidbrain48.89
47.13
Apaf1MYMedulla100
100
Apaf1OLFOlfactory bulb86.54
92.28
Apaf1PPons70.41
79.43
Apaf1PALPallidum35.38
32.68
Apaf1RHPRetrohippocampal region100
93.47
Apaf1sAMYStriatum-like amygdalar nuclei52.28
38.05
Apaf1STRStriatum36.75
26.77
Apaf1STRdStriatum dorsal region35.91
26.52
Apaf1STRvStriatum ventral region37.98
25.08
Apaf1THThalamus38.79
31.32
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
APAF_HUMAN_0 0 0 0 GSPLVVSLIGALLR PRIDE
APAF_HUMAN_1110 14 1110 1123 IWSFDLLLPLHELR PRIDE
APAF_HUMAN_318 14 318 331 GSPLVVSLIGALLR PRIDE
PAp00498033 19 82 100 DLAALLHDGIPVVSSSSGK Peptide Atlas

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