AutismKB 2.0

Annotation Detail for FAM8A1


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Basic Information Top
Gene Symbol:FAM8A1 ( AHCP,FLJ23721 )
Gene Full Name: family with sequence similarity 8, member A1
Band: 6p22.3
Quick LinksEntrez ID:51439; OMIM: NA; Uniprot ID:FA8A1_HUMAN; ENSEMBL ID: ENSG00000137414; HGNC ID: 16372
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
blastocyst2 / 6231932
fetus22 / 56401239
neonate2 / 3109764
infant0 / 236200 
juvenile10 / 55556179
adult133 / 193912168
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor32 / 94178339
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor2 / 11424617
esophageal tumor3 / 17290173
gastrointestinal tumor25 / 119369209
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor15 / 136302110
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor11 / 96359114
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal149 / 336030744
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood1 / 1234788
bone1 / 7165513
bone marrow1 / 4880120
brain59 / 110098953
cervix0 / 481710 
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus3 / 20209148
eye11 / 21105452
heart5 / 8962655
intestine7 / 23447229
kidney5 / 21177723
larynx0 / 241450 
liver20 / 20774396
lung12 / 33697435
lymph0 / 442700 
lymph node1 / 9161010
mammary gland32 / 153271208
mouth15 / 67052223
muscle7 / 10771564
nerve1 / 1576863
ovary2 / 10205119
pancreas9 / 21481241
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta4 / 28082514
prostate5 / 18934526
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach24 / 96619248
testis24 / 33044272
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus13 / 23287855
vascular11 / 51780212
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203420_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.7
Adipocyte64.65
AdrenalCortex25.55
Adrenalgland22.3
Amygdala322.2
Appendix46.1
AtrioventricularNode21.4
BDCA4+_DentriticCells45.85
Bonemarrow24.35
BronchialEpithelialCells23.4
CD105+_Endothelial60.55
CD14+_Monocytes27.15
CD19+_BCells(neg._sel.)30.8
CD33+_Myeloid151.9
CD34+78.8
CD4+_Tcells113.8
CD56+_NKCells380.7
CD71+_EarlyErythroid20.2
CD8+_Tcells175.5
CardiacMyocytes32.15
Caudatenucleus170
Cerebellum111.85
CerebellumPeduncles107.25
CiliaryGanglion25.3
CingulateCortex119.2
Colorectaladenocarcinoma26.25
DorsalRootGanglion34.25
FetalThyroid137.9
Fetalbrain236.2
Fetalliver66.55
Fetallung63.55
GlobusPallidus60.95
Heart31.45
Hypothalamus248.75
Kidney27.25
Leukemia_chronicMyelogenousK-56255.85
Leukemia_promyelocytic-HL-6043.4
Leukemialymphoblastic(MOLT-4)24.3
Liver48.65
Lung26.05
Lymphnode50.35
Lymphoma_burkitts(Daudi)31.2
Lymphoma_burkitts(Raji)24.35
MedullaOblongata105.4
OccipitalLobe164.7
OlfactoryBulb104.2
Ovary71.7
Pancreas46.35
PancreaticIslet108.8
ParietalLobe82.55
Pituitary232.85
Placenta27.5
Pons54.4
PrefrontalCortex432.25
Prostate69.9
Salivarygland84.7
SkeletalMuscle32.9
Skin23.85
SmoothMuscle43.75
Spinalcord228.25
SubthalamicNucleus80.6
SuperiorCervicalGanglion32.4
TemporalLobe43.35
Testis19.05
TestisGermCell36.3
TestisIntersitial21.5
TestisLeydigCell47.1
TestisSeminiferousTubule22.7
Thalamus140.05
Thymus20.35
Thyroid113.6
Tongue24.2
Tonsil23.75
Trachea66.9
TrigeminalGanglion27.6
Uterus190.7
UterusCorpus42.35
WholeBlood637.75
Wholebrain222.25
colon91.7
pineal_day282.58
pineal_night259.74
retina173.85
small_intestine49.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P337575
  • 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
Amygdala7.24 ± 0.52
Basal Forebrain7.62 ± 0.15
Basal Part of Pons7.93 ± 0.2
Cerebellar Cortex7.63 ± 0.28
Cerebellar Nuclei7.64 ± 0.38
Claustrum7.11 ± 0.56
Epithalamus8.07 ± 0.33
Frontal Lobe7.71 ± 0.35
Globus Pallidus7.37 ± 0.29
Hypothalamus7.99 ± 0.55
Insula7.7 ± 0.29
Limbic Lobe7.68 ± 0.38
Mesencephalon7.58 ± 0.37
Myelencephalon7.64 ± 0.43
Occipital Lobe7.7 ± 0.33
Parietal Lobe7.69 ± 0.37
Pontine Tegmentum7.62 ± 0.31
Striatum7.61 ± 0.31
Subthalamus7.46 ± 0.49
Temporal Lobe7.65 ± 0.36
Thalamus7.63 ± 0.27
White Matter8.12 ± 0.25
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00006598 27 76 102 RGEAASGSGAELQEQAGCEAPEAAAPR 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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