AutismKB 2.0

Annotation Detail for F12


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Basic Information Top
Gene Symbol:F12 ( HAE3,HAEX,HAF )
Gene Full Name: coagulation factor XII (Hageman factor)
Band: 5q35.3
Quick LinksEntrez ID:2161; OMIM: 610619; Uniprot ID:FA12_HUMAN; ENSEMBL ID: ENSG00000131187; HGNC ID: 3530
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 body1 / 7076114
blastocyst0 / 623190 
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult25 / 193912112
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 tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal25 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites7 / 40015174
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine3 / 23447212
kidney1 / 2117774
larynx0 / 241450 
liver10 / 20774348
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach6 / 9661962
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205774_at
Cell line Expression level Expression bar
721_B_lymphoblasts19
Adipocyte3.45
AdrenalCortex3.65
Adrenalgland2.9
Amygdala3.7
Appendix3.45
AtrioventricularNode2.65
BDCA4+_DentriticCells4.7
Bonemarrow3.4
BronchialEpithelialCells3.45
CD105+_Endothelial3.5
CD14+_Monocytes3.7
CD19+_BCells(neg._sel.)3.8
CD33+_Myeloid4.5
CD34+5
CD4+_Tcells3.9
CD56+_NKCells4.25
CD71+_EarlyErythroid3.25
CD8+_Tcells3.4
CardiacMyocytes4.4
Caudatenucleus3.2
Cerebellum2.8
CerebellumPeduncles3.9
CiliaryGanglion2.45
CingulateCortex3.5
Colorectaladenocarcinoma53.2
DorsalRootGanglion2.6
FetalThyroid3.35
Fetalbrain4
Fetalliver80.7
Fetallung16.65
GlobusPallidus2.55
Heart4.35
Hypothalamus3.85
Kidney2.8
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.85
Leukemialymphoblastic(MOLT-4)2.8
Liver3083.95
Lung3.8
Lymphnode3
Lymphoma_burkitts(Daudi)4.45
Lymphoma_burkitts(Raji)4.85
MedullaOblongata3.25
OccipitalLobe3.15
OlfactoryBulb2.75
Ovary2.25
Pancreas2.95
PancreaticIslet3.7
ParietalLobe3.65
Pituitary4.05
Placenta3.6
Pons3.3
PrefrontalCortex4.4
Prostate4.1
Salivarygland2.75
SkeletalMuscle4.45
Skin2.65
SmoothMuscle3.95
Spinalcord3.7
SubthalamicNucleus3.15
SuperiorCervicalGanglion3.9
TemporalLobe3.2
Testis3
TestisGermCell2.95
TestisIntersitial2.9
TestisLeydigCell3.45
TestisSeminiferousTubule2.95
Thalamus3.55
Thymus2.8
Thyroid4.4
Tongue7.05
Tonsil3.4
Trachea2.9
TrigeminalGanglion3.4
Uterus2.8
UterusCorpus3.05
WholeBlood3.85
Wholebrain3.4
colon3.5
pineal_day4.4
pineal_night4.32
retina4.225
small_intestine3.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16257_PI416261804
  • 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
Amygdala5.88 ± 0.66
Basal Forebrain5.42 ± 0.33
Basal Part of Pons6.19 ± 0.41
Cerebellar Cortex4.81 ± 0.48
Cerebellar Nuclei4.76 ± 0.47
Claustrum5.84 ± 0.45
Epithalamus4.86 ± 0.3
Frontal Lobe5.61 ± 0.6
Globus Pallidus4.58 ± 1.03
Hypothalamus5.64 ± 0.35
Insula5.99 ± 0.57
Limbic Lobe5.81 ± 0.8
Mesencephalon5.27 ± 0.68
Myelencephalon5.58 ± 0.72
Occipital Lobe4.57 ± 0.89
Parietal Lobe5.46 ± 0.62
Pontine Tegmentum5.24 ± 0.7
Striatum5.95 ± 0.88
Subthalamus5.08 ± 0.74
Temporal Lobe5.85 ± 0.62
Thalamus5.04 ± 0.77
White Matter3.78 ± 0.64
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024035 23 33 55 AEEHTVVLTVTGEPCHFPFQYHR 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