AutismKB 2.0

Annotation Detail for FAM83A


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Basic Information Top
Gene Symbol:FAM83A ( BJ-TSA-9,MGC14128 )
Gene Full Name: family with sequence similarity 83, member A
Band: 8q24.13
Quick LinksEntrez ID:84985; OMIM: NA; Uniprot ID:FA83A_HUMAN; ENSEMBL ID: ENSG00000147689; HGNC ID: 28210
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult47 / 193912124
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor0 / 941780 
cervical tumor5 / 34366145
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor108 / 136302792
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor21 / 103127203
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal22 / 33603076
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer14 / 102680136
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites0 / 400150 
bladder2 / 2975767
blood0 / 1234780 
bone1 / 7165513
bone marrow3 / 4880161
brain4 / 11009893
cervix5 / 48171103
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus2 / 2020998
eye12 / 21105456
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx10 / 24145414
liver0 / 2077430 
lung25 / 33697474
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth99 / 670521476
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate17 / 18934589
salivary gland1 / 2015549
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P216052
  • 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
Amygdala1.92 ± 1.07
Basal Forebrain1.53 ± 0.36
Basal Part of Pons1.4 ± 0.76
Cerebellar Cortex1.32 ± 0.71
Cerebellar Nuclei2.05 ± 0.86
Claustrum2.45 ± 0.97
Epithalamus1.2 ± 0.86
Frontal Lobe1.52 ± 0.79
Globus Pallidus2.1 ± 0.6
Hypothalamus1.61 ± 0.77
Insula1.24 ± 0.4
Limbic Lobe1.62 ± 0.88
Mesencephalon1.59 ± 0.77
Myelencephalon1.62 ± 0.78
Occipital Lobe1.6 ± 0.8
Parietal Lobe1.52 ± 0.92
Pontine Tegmentum1.65 ± 0.81
Striatum1.72 ± 0.78
Subthalamus1.67 ± 0.76
Temporal Lobe1.49 ± 0.85
Thalamus1.46 ± 0.72
White Matter1.87 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC030396CBCerebellum11.09
12.05
BC030396CTXCerebral cortex5.36
3.59
BC030396HIPHippocampal region5.51
4.87
BC030396HPFHippocampal formation5.18
4.19
BC030396HYHypothalamus0.24
0.31
BC030396LSXLateral septal complex1.08
1.02
BC030396MBMidbrain0.68
0.79
BC030396MYMedulla2.41
2.26
BC030396OLFOlfactory bulb4.72
3.14
BC030396PPons0.91
1.34
BC030396PALPallidum0.54
0.4
BC030396RHPRetrohippocampal region4.89
3.44
BC030396sAMYStriatum-like amygdalar nuclei0.55
0.51
BC030396STRStriatum0.95
0.79
BC030396STRdStriatum dorsal region0.98
0.84
BC030396STRvStriatum ventral region0.92
0.68
BC030396THThalamus1.27
1.51
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