AutismKB 2.0

Annotation Detail for F8


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Basic Information Top
Gene Symbol:F8 ( AHF,DXS1253E,F8B,F8C,FVIII,HEMA )
Gene Full Name: coagulation factor VIII, procoagulant component
Band: Xq28
Quick LinksEntrez ID:2157; OMIM: 306700; Uniprot ID:FA8_HUMAN; ENSEMBL ID: ENSG00000185010; HGNC ID: 3546
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 
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult34 / 193912117
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma8 / 10688374
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal76 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain42 / 110098938
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver5 / 20774324
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle5 / 10771546
nerve1 / 1576863
ovary1 / 1020519
pancreas4 / 21481218
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta6 / 28082521
prostate8 / 18934542
salivary gland0 / 201550 
skin3 / 21057414
spleen2 / 5395237
stomach0 / 966190 
testis9 / 33044227
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205756_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.6
Adipocyte6.25
AdrenalCortex8.35
Adrenalgland7.6
Amygdala14.45
Appendix28.95
AtrioventricularNode9.25
BDCA4+_DentriticCells5.85
Bonemarrow6.7
BronchialEpithelialCells5.85
CD105+_Endothelial6.2
CD14+_Monocytes6.45
CD19+_BCells(neg._sel.)6.3
CD33+_Myeloid8.1
CD34+7.85
CD4+_Tcells6.35
CD56+_NKCells7.1
CD71+_EarlyErythroid5.9
CD8+_Tcells5.95
CardiacMyocytes8.3
Caudatenucleus9.8
Cerebellum5
CerebellumPeduncles7.3
CiliaryGanglion5.05
CingulateCortex6.55
Colorectaladenocarcinoma6.3
DorsalRootGanglion5.9
FetalThyroid6.3
Fetalbrain6
Fetalliver9.75
Fetallung4.65
GlobusPallidus5.05
Heart9.45
Hypothalamus7.2
Kidney5.55
Leukemia_chronicMyelogenousK-5625.35
Leukemia_promyelocytic-HL-605.55
Leukemialymphoblastic(MOLT-4)4.85
Liver9.45
Lung6.8
Lymphnode21.85
Lymphoma_burkitts(Daudi)8.3
Lymphoma_burkitts(Raji)9.05
MedullaOblongata5.8
OccipitalLobe5.95
OlfactoryBulb5.3
Ovary18.1
Pancreas4.95
PancreaticIslet6.7
ParietalLobe7.65
Pituitary7.6
Placenta6.1
Pons6.6
PrefrontalCortex37.35
Prostate7.3
Salivarygland11.9
SkeletalMuscle12.95
Skin6.5
SmoothMuscle6.85
Spinalcord7.5
SubthalamicNucleus6.4
SuperiorCervicalGanglion22.6
TemporalLobe6
Testis5.6
TestisGermCell13.5
TestisIntersitial6.15
TestisLeydigCell6.45
TestisSeminiferousTubule5.6
Thalamus6.6
Thymus4.5
Thyroid12.7
Tongue7.45
Tonsil6.2
Trachea5.15
TrigeminalGanglion7.2
Uterus12.1
UterusCorpus6.35
WholeBlood7.55
Wholebrain10.2
colon6.15
pineal_day50.2
pineal_night53.32
retina10
small_intestine5.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P217643
  • 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
Amygdala5.21 ± 0.4
Basal Forebrain5.02 ± 0.33
Basal Part of Pons5.15 ± 0.47
Cerebellar Cortex4.6 ± 0.38
Cerebellar Nuclei4.67 ± 0.52
Claustrum5.06 ± 0.42
Epithalamus5.09 ± 0.34
Frontal Lobe4.89 ± 0.45
Globus Pallidus4.76 ± 0.29
Hypothalamus4.81 ± 0.76
Insula4.69 ± 0.55
Limbic Lobe4.93 ± 0.49
Mesencephalon4.91 ± 0.54
Myelencephalon4.94 ± 0.47
Occipital Lobe5.17 ± 0.36
Parietal Lobe5.11 ± 0.52
Pontine Tegmentum4.9 ± 0.48
Striatum5.21 ± 0.34
Subthalamus4.84 ± 0.53
Temporal Lobe4.92 ± 0.39
Thalamus5 ± 0.42
White Matter3.56 ± 1.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
F8CBCerebellum2.51
3.4
F8CTXCerebral cortex2.44
0.96
F8HIPHippocampal region1.57
1.25
F8HPFHippocampal formation1.61
1.24
F8HYHypothalamus2.02
0.83
F8LSXLateral septal complex1.22
0.67
F8MBMidbrain1.5
1.04
F8MYMedulla2.11
1.11
F8OLFOlfactory bulb2.33
1.1
F8PPons2.58
1.29
F8PALPallidum2.74
1.01
F8RHPRetrohippocampal region1.72
1.3
F8sAMYStriatum-like amygdalar nuclei3.7
0.82
F8STRStriatum1.16
0.47
F8STRdStriatum dorsal region0.68
0.42
F8STRvStriatum ventral region1.67
0.48
F8THThalamus0.98
0.71
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
FA8_HUMAN_385 7 385 391 PSFIQIR PRIDE
PAp00039916 19 911 929 DNLAAGTDNTSSLGPPSMP 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


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