AutismKB 2.0

Annotation Detail for FAM127A


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Basic Information Top
Gene Symbol:FAM127A ( CXX1,MAR8C,MART8C,MGC117411,Mar8,Mart8 )
Gene Full Name: family with sequence similarity 127, member A
Band: Xq26
Quick LinksEntrez ID:8933; OMIM: 300213; Uniprot ID:F127A_HUMAN; ENSEMBL ID: ENSG00000134590; 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 body20 / 70761282
blastocyst8 / 62319128
fetus35 / 56401262
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult161 / 193912183
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor14 / 94178148
cervical tumor2 / 3436658
chondrosarcoma22 / 82823265
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor10 / 26384537
glioma22 / 106883205
head and neck tumor11 / 13630280
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor15 / 103127145
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal220 / 336030765
ovarian tumor7 / 7668291
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer24 / 102680233
retinoblastoma4 / 4635686
skin tumor22 / 124949176
soft tissue/muscle tissue tumor18 / 125191143
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone17 / 71655237
bone marrow1 / 4880120
brain61 / 110098955
cervix4 / 4817183
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue37 / 215722171
esophagus0 / 202090 
eye30 / 211054142
heart10 / 89626111
intestine8 / 23447234
kidney4 / 21177718
larynx1 / 2414541
liver4 / 20774319
lung40 / 336974118
lymph0 / 442700 
lymph node1 / 9161010
mammary gland17 / 153271110
mouth1 / 6705214
muscle15 / 107715139
nerve1 / 1576863
ovary10 / 10205197
pancreas24 / 214812111
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta17 / 28082560
prostate27 / 189345142
salivary gland7 / 20155347
skin38 / 210574180
spleen0 / 539520 
stomach2 / 9661920
testis1 / 3304423
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus18 / 23287877
vascular3 / 5178057
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201828_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.8
Adipocyte434.3
AdrenalCortex269.35
Adrenalgland493.15
Amygdala1451.55
Appendix158.55
AtrioventricularNode47.65
BDCA4+_DentriticCells123.2
Bonemarrow81.25
BronchialEpithelialCells246.6
CD105+_Endothelial162.4
CD14+_Monocytes210.95
CD19+_BCells(neg._sel.)44.55
CD33+_Myeloid286
CD34+149.7
CD4+_Tcells52.2
CD56+_NKCells188.35
CD71+_EarlyErythroid65
CD8+_Tcells47.8
CardiacMyocytes599.8
Caudatenucleus678.6
Cerebellum662.05
CerebellumPeduncles675.3
CiliaryGanglion76.55
CingulateCortex1045.45
Colorectaladenocarcinoma18.45
DorsalRootGanglion137.35
FetalThyroid427.05
Fetalbrain496.15
Fetalliver145.15
Fetallung459.15
GlobusPallidus381.15
Heart2289.2
Hypothalamus1651.7
Kidney202.15
Leukemia_chronicMyelogenousK-56262.15
Leukemia_promyelocytic-HL-6027.9
Leukemialymphoblastic(MOLT-4)11.1
Liver201.65
Lung938.85
Lymphnode102.45
Lymphoma_burkitts(Daudi)17.6
Lymphoma_burkitts(Raji)28.85
MedullaOblongata677.25
OccipitalLobe889.2
OlfactoryBulb385.45
Ovary167.35
Pancreas91.1
PancreaticIslet199.3
ParietalLobe841.45
Pituitary728.05
Placenta347.3
Pons416.4
PrefrontalCortex1859.45
Prostate842.4
Salivarygland57.55
SkeletalMuscle156.95
Skin58.7
SmoothMuscle1086.2
Spinalcord995.85
SubthalamicNucleus537.05
SuperiorCervicalGanglion115.45
TemporalLobe710.45
Testis248.25
TestisGermCell225.8
TestisIntersitial73.65
TestisLeydigCell61.15
TestisSeminiferousTubule72.65
Thalamus1244.25
Thymus129.05
Thyroid610.5
Tongue254.15
Tonsil51.8
Trachea155.65
TrigeminalGanglion140.8
Uterus592.85
UterusCorpus143.8
WholeBlood67.5
Wholebrain1592.3
colon190.7
pineal_day954.4
pineal_night867.4
retina804.3
small_intestine177.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P156566
  • 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
Amygdala9.38 ± 0.44
Basal Forebrain9.69 ± 0.23
Basal Part of Pons10.25 ± 0.25
Cerebellar Cortex9.56 ± 0.3
Cerebellar Nuclei9.99 ± 0.23
Claustrum9.52 ± 0.48
Epithalamus9.39 ± 0.51
Frontal Lobe9.91 ± 0.35
Globus Pallidus9.42 ± 0.46
Hypothalamus10.2 ± 0.29
Insula9.94 ± 0.32
Limbic Lobe9.53 ± 0.54
Mesencephalon9.67 ± 0.38
Myelencephalon9.68 ± 0.54
Occipital Lobe9.15 ± 0.51
Parietal Lobe9.67 ± 0.42
Pontine Tegmentum9.58 ± 0.38
Striatum9.19 ± 0.46
Subthalamus10.2 ± 0.21
Temporal Lobe9.9 ± 0.38
Thalamus9.76 ± 0.33
White Matter9.22 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cxx1cCBCerebellum23.84
34.81
Cxx1cCTXCerebral cortex46.87
41.09
Cxx1cHIPHippocampal region20.07
26.05
Cxx1cHPFHippocampal formation19.97
22.05
Cxx1cHYHypothalamus66.89
69.41
Cxx1cLSXLateral septal complex59.83
59.26
Cxx1cMBMidbrain59.69
68.32
Cxx1cMYMedulla65.86
92.71
Cxx1cOLFOlfactory bulb32.77
27.89
Cxx1cPPons55.65
73.78
Cxx1cPALPallidum51.69
58.27
Cxx1cRHPRetrohippocampal region19.83
16.34
Cxx1csAMYStriatum-like amygdalar nuclei61.35
54.81
Cxx1cSTRStriatum38.77
32.11
Cxx1cSTRdStriatum dorsal region32.19
25.67
Cxx1cSTRvStriatum ventral region42.19
31.84
Cxx1cTHThalamus44.17
51.12
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