AutismKB 2.0

Annotation Detail for CASP8AP2


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Basic Information Top
Gene Symbol:CASP8AP2 ( CED-4,FLASH,FLJ11208,KIAA1315,RIP25 )
Gene Full Name: caspase 8 associated protein 2
Band: 6q15
Quick LinksEntrez ID:9994; OMIM: 606880; Uniprot ID:C8AP2_HUMAN; ENSEMBL ID: ENSG00000118412; HGNC ID: 1510
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body2 / 7076128
blastocyst4 / 6231964
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult38 / 193912119
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal79 / 336030723
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow2 / 4880140
brain17 / 110098915
cervix1 / 4817120
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye3 / 21105414
heart3 / 8962633
intestine3 / 23447212
kidney5 / 21177723
larynx2 / 2414582
liver2 / 2077439
lung3 / 3369748
lymph0 / 442700 
lymph node4 / 9161043
mammary gland3 / 15327119
mouth2 / 6705229
muscle9 / 10771583
nerve1 / 1576863
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus6 / 23287825
vascular4 / 5178077
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P58898
  • 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
Amygdala5.97 ± 0.32
Basal Forebrain6.16 ± 0.18
Basal Part of Pons6.1 ± 0.36
Cerebellar Cortex6.52 ± 0.19
Cerebellar Nuclei6.12 ± 0.47
Claustrum6.07 ± 0.54
Epithalamus6.2 ± 0.35
Frontal Lobe6.11 ± 0.34
Globus Pallidus5.99 ± 0.33
Hypothalamus6.2 ± 0.39
Insula6.18 ± 0.31
Limbic Lobe6.02 ± 0.43
Mesencephalon6.22 ± 0.36
Myelencephalon6.14 ± 0.39
Occipital Lobe6.48 ± 0.29
Parietal Lobe6.25 ± 0.37
Pontine Tegmentum6.16 ± 0.39
Striatum5.83 ± 0.3
Subthalamus6.51 ± 0.23
Temporal Lobe6.13 ± 0.33
Thalamus6.25 ± 0.35
White Matter6.41 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Casp8ap2CBCerebellum0.53
0.92
Casp8ap2CTXCerebral cortex0.22
0.28
Casp8ap2HIPHippocampal region0.14
0.13
Casp8ap2HPFHippocampal formation0.11
0.11
Casp8ap2HYHypothalamus0.04
0.03
Casp8ap2LSXLateral septal complex0
0
Casp8ap2MBMidbrain0.24
0.31
Casp8ap2MYMedulla2.06
2.39
Casp8ap2OLFOlfactory bulb0.42
1.65
Casp8ap2PPons0.29
0.43
Casp8ap2PALPallidum0.01
0
Casp8ap2RHPRetrohippocampal region0.07
0.09
Casp8ap2sAMYStriatum-like amygdalar nuclei0.05
0.07
Casp8ap2STRStriatum0.07
0.06
Casp8ap2STRdStriatum dorsal region0.07
0.07
Casp8ap2STRvStriatum ventral region0.1
0.06
Casp8ap2THThalamus0.08
0.11
Peptide 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