AutismKB 2.0

Annotation Detail for DOCK8


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Basic Information Top
Gene Symbol:DOCK8 ( FLJ00026,FLJ00152,FLJ00346,MRD2,ZIR8 )
Gene Full Name: dedicator of cytokinesis 8
Band: 9p24.3
Quick LinksEntrez ID:81704; OMIM: 611432; Uniprot ID:DOCK8_HUMAN; ENSEMBL ID: ENSG00000107099; HGNC ID: 19191
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 body0 / 707610 
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult55 / 193912128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor15 / 26384556
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia10 / 95842104
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal142 / 336030742
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites0 / 400150 
bladder1 / 2975733
blood12 / 12347897
bone0 / 716550 
bone marrow3 / 4880161
brain8 / 11009897
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine5 / 23447221
kidney9 / 21177742
larynx1 / 2414541
liver0 / 2077430 
lung6 / 33697417
lymph1 / 4427022
lymph node34 / 91610371
mammary gland1 / 1532716
mouth2 / 6705229
muscle1 / 1077159
nerve2 / 15768126
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta11 / 28082539
prostate6 / 18934531
salivary gland0 / 201550 
skin13 / 21057461
spleen5 / 5395292
stomach0 / 966190 
testis17 / 33044251
thymus9 / 81131110
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P353888
  • 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
Amygdala2.85 ± 0.97
Basal Forebrain2.57 ± 0.57
Basal Part of Pons2.8 ± 0.71
Cerebellar Cortex2.21 ± 0.46
Cerebellar Nuclei3.85 ± 0.56
Claustrum3.11 ± 0.63
Epithalamus3.26 ± 0.53
Frontal Lobe2.52 ± 0.9
Globus Pallidus4.56 ± 0.48
Hypothalamus2.53 ± 0.85
Insula2.48 ± 0.71
Limbic Lobe2.59 ± 0.85
Mesencephalon2.79 ± 0.79
Myelencephalon2.7 ± 0.8
Occipital Lobe2.41 ± 0.61
Parietal Lobe2.69 ± 0.78
Pontine Tegmentum2.71 ± 0.88
Striatum2.96 ± 0.82
Subthalamus3.15 ± 0.27
Temporal Lobe2.73 ± 0.79
Thalamus2.69 ± 0.71
White Matter4.53 ± 0.33
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DOCK8_HUMAN_1490 7 1490 1496 MFGTYFR PRIDE
DOCK8_HUMAN_330 39 330 368 SAVFSVTYPSSDIYLVVKIEKVLQQGEIGDCAEPYTVIK PRIDE
PAp00003430 11 113 123 HLNVLCDVSGK 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