AutismKB 2.0

Annotation Detail for FAM134A


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Basic Information Top
Gene Symbol:FAM134A ( C2orf17,DKFZp686C2379,MGC3035 )
Gene Full Name: family with sequence similarity 134, member A
Band: 2q35
Quick LinksEntrez ID:79137; OMIM: NA; Uniprot ID:F134A_HUMAN; ENSEMBL ID: ENSG00000144567; HGNC ID:
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
blastocyst3 / 6231948
fetus23 / 56401240
neonate0 / 310970 
infant5 / 23620211
juvenile3 / 5555653
adult136 / 193912170
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma12 / 82823144
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor18 / 26384568
glioma16 / 106883149
head and neck tumor9 / 13630266
kidney tumor3 / 6895943
leukemia7 / 9584273
liver tumor5 / 9635951
lung tumor5 / 10312748
lymphoma7 / 7175597
non-neoplasia3 / 9725030
normal194 / 336030757
ovarian tumor7 / 7668291
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer7 / 10268068
retinoblastoma4 / 4635686
skin tumor24 / 124949192
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites1 / 4001524
bladder2 / 2975767
blood7 / 12347856
bone11 / 71655153
bone marrow1 / 4880120
brain107 / 110098997
cervix1 / 4817120
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye16 / 21105475
heart1 / 8962611
intestine20 / 23447285
kidney13 / 21177761
larynx1 / 2414541
liver9 / 20774343
lung22 / 33697465
lymph4 / 4427090
lymph node0 / 916100 
mammary gland7 / 15327145
mouth6 / 6705289
muscle5 / 10771546
nerve2 / 15768126
ovary10 / 10205197
pancreas7 / 21481232
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta15 / 28082553
prostate17 / 18934589
salivary gland1 / 2015549
skin25 / 210574118
spleen5 / 5395292
stomach4 / 9661941
testis40 / 330442121
thymus6 / 8113173
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218037_at
Cell line Expression level Expression bar
721_B_lymphoblasts62.35
Adipocyte52.35
AdrenalCortex36.55
Adrenalgland46.6
Amygdala231.4
Appendix29.25
AtrioventricularNode9.35
BDCA4+_DentriticCells42.6
Bonemarrow57.1
BronchialEpithelialCells39.35
CD105+_Endothelial52.8
CD14+_Monocytes81.25
CD19+_BCells(neg._sel.)88.05
CD33+_Myeloid75.8
CD34+79.8
CD4+_Tcells59.95
CD56+_NKCells81.6
CD71+_EarlyErythroid73.2
CD8+_Tcells52.85
CardiacMyocytes63.5
Caudatenucleus94.4
Cerebellum129.85
CerebellumPeduncles236.75
CiliaryGanglion11.05
CingulateCortex142.45
Colorectaladenocarcinoma95.3
DorsalRootGanglion32.25
FetalThyroid60.7
Fetalbrain128.8
Fetalliver43.65
Fetallung38.25
GlobusPallidus55.35
Heart74.45
Hypothalamus179.95
Kidney54.05
Leukemia_chronicMyelogenousK-56215.9
Leukemia_promyelocytic-HL-6035.25
Leukemialymphoblastic(MOLT-4)28.6
Liver89.6
Lung70.1
Lymphnode33.85
Lymphoma_burkitts(Daudi)78.65
Lymphoma_burkitts(Raji)70.1
MedullaOblongata117.95
OccipitalLobe123.75
OlfactoryBulb41.55
Ovary33.65
Pancreas22.3
PancreaticIslet60.5
ParietalLobe125.15
Pituitary60.45
Placenta53.2
Pons89.85
PrefrontalCortex290.05
Prostate57.6
Salivarygland43.85
SkeletalMuscle45.3
Skin31.1
SmoothMuscle42.15
Spinalcord65.75
SubthalamicNucleus96.05
SuperiorCervicalGanglion45.2
TemporalLobe141.85
Testis473.6
TestisGermCell282.75
TestisIntersitial290.1
TestisLeydigCell199.25
TestisSeminiferousTubule272.75
Thalamus215.95
Thymus52.5
Thyroid105.75
Tongue33.45
Tonsil27.45
Trachea45.55
TrigeminalGanglion48.6
Uterus31.3
UterusCorpus44.85
WholeBlood107.35
Wholebrain310.75
colon42.55
pineal_day191.74
pineal_night205.66
retina90.375
small_intestine34.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P108522
  • 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
Amygdala10.13 ± 0.31
Basal Forebrain10.12 ± 0.13
Basal Part of Pons10.58 ± 0.14
Cerebellar Cortex10.37 ± 0.19
Cerebellar Nuclei10.27 ± 0.18
Claustrum10.51 ± 0.16
Epithalamus10.07 ± 0.24
Frontal Lobe10.49 ± 0.24
Globus Pallidus9.63 ± 0.24
Hypothalamus10.28 ± 0.28
Insula10.48 ± 0.2
Limbic Lobe10.29 ± 0.32
Mesencephalon10.18 ± 0.29
Myelencephalon10.27 ± 0.32
Occipital Lobe10.03 ± 0.33
Parietal Lobe10.36 ± 0.29
Pontine Tegmentum10.32 ± 0.28
Striatum10.17 ± 0.33
Subthalamus10.47 ± 0.27
Temporal Lobe10.39 ± 0.26
Thalamus10.42 ± 0.25
White Matter9.63 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC038286CBCerebellum100
100
BC038286CTXCerebral cortex100
100
BC038286HIPHippocampal region100
100
BC038286HPFHippocampal formation100
100
BC038286HYHypothalamus100
100
BC038286LSXLateral septal complex100
100
BC038286MBMidbrain100
100
BC038286MYMedulla65.56
100
BC038286OLFOlfactory bulb100
100
BC038286PPons76.81
100
BC038286PALPallidum100
100
BC038286RHPRetrohippocampal region100
100
BC038286sAMYStriatum-like amygdalar nuclei100
100
BC038286STRStriatum100
100
BC038286STRdStriatum dorsal region100
100
BC038286STRvStriatum ventral region100
100
BC038286THThalamus100
100
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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