AutismKB 2.0

Annotation Detail for FAM193A


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Basic Information Top
Gene Symbol:FAM193A ( C4orf8 )
Gene Full Name: family with sequence similarity 193, member A
Band: 4p16.3
Quick LinksEntrez ID:8603; OMIM: NA; Uniprot ID:F193A_HUMAN; ENSEMBL ID: ENSG00000125386; HGNC ID: 16822
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 body9 / 70761127
blastocyst2 / 6231932
fetus32 / 56401256
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult65 / 193912133
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor16 / 26384560
glioma6 / 10688356
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal124 / 336030736
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone3 / 7165541
bone marrow0 / 488010 
brain25 / 110098922
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye10 / 21105447
heart5 / 8962655
intestine6 / 23447225
kidney5 / 21177723
larynx3 / 24145124
liver4 / 20774319
lung13 / 33697438
lymph1 / 4427022
lymph node11 / 91610120
mammary gland5 / 15327132
mouth2 / 6705229
muscle4 / 10771537
nerve2 / 15768126
ovary4 / 10205139
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate5 / 18934526
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach3 / 9661931
testis13 / 33044239
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus15 / 23287864
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203600_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts28.05
Adipocyte3.6
AdrenalCortex4.85
Adrenalgland4.7
Amygdala13.25
Appendix5.3
AtrioventricularNode3.15
BDCA4+_DentriticCells25.3
Bonemarrow4.6
BronchialEpithelialCells3.75
CD105+_Endothelial20.75
CD14+_Monocytes9.05
CD19+_BCells(neg._sel.)42.55
CD33+_Myeloid20.35
CD34+25.35
CD4+_Tcells23.95
CD56+_NKCells25.55
CD71+_EarlyErythroid6.65
CD8+_Tcells26.4
CardiacMyocytes6.1
Caudatenucleus4.95
Cerebellum9.75
CerebellumPeduncles6.05
CiliaryGanglion2.5
CingulateCortex5.45
Colorectaladenocarcinoma5.9
DorsalRootGanglion2.9
FetalThyroid5.7
Fetalbrain11.45
Fetalliver5
Fetallung6.25
GlobusPallidus4.4
Heart6.5
Hypothalamus7.25
Kidney3.7
Leukemia_chronicMyelogenousK-5624.9
Leukemia_promyelocytic-HL-605.6
Leukemialymphoblastic(MOLT-4)10.25
Liver8
Lung58.75
Lymphnode5.55
Lymphoma_burkitts(Daudi)8.2
Lymphoma_burkitts(Raji)25.9
MedullaOblongata5.7
OccipitalLobe5.8
OlfactoryBulb5.35
Ovary2.35
Pancreas3.6
PancreaticIslet5.4
ParietalLobe4.85
Pituitary7.3
Placenta7.15
Pons4.65
PrefrontalCortex15
Prostate29.1
Salivarygland3.75
SkeletalMuscle4.05
Skin2.6
SmoothMuscle5.2
Spinalcord8.15
SubthalamicNucleus4.8
SuperiorCervicalGanglion4.55
TemporalLobe4.1
Testis34.8
TestisGermCell27.7
TestisIntersitial11.55
TestisLeydigCell10.05
TestisSeminiferousTubule12.25
Thalamus7.05
Thymus17.5
Thyroid11.3
Tongue3.9
Tonsil4.3
Trachea3.65
TrigeminalGanglion4.35
Uterus29.5
UterusCorpus3.7
WholeBlood12.45
Wholebrain15.55
colon6.1
pineal_day29.68
pineal_night17.14
retina22.65
small_intestine5.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P126465
  • 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
Amygdala3.11 ± 0.86
Basal Forebrain2.48 ± 0.39
Basal Part of Pons2.36 ± 0.56
Cerebellar Cortex3.14 ± 0.45
Cerebellar Nuclei2.91 ± 0.69
Claustrum3.27 ± 0.95
Epithalamus2.41 ± 0.64
Frontal Lobe2.53 ± 0.73
Globus Pallidus2.88 ± 1.02
Hypothalamus2.66 ± 0.76
Insula2.4 ± 0.82
Limbic Lobe2.88 ± 0.84
Mesencephalon2.85 ± 0.85
Myelencephalon2.77 ± 0.75
Occipital Lobe3.11 ± 0.82
Parietal Lobe2.67 ± 0.77
Pontine Tegmentum2.73 ± 0.69
Striatum2.55 ± 0.74
Subthalamus2.74 ± 0.65
Temporal Lobe2.54 ± 0.77
Thalamus2.6 ± 0.68
White Matter3.02 ± 0.52
Mouse Brain ISH
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


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