AutismKB 2.0

Annotation Detail for FAM120A


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Basic Information Top
Gene Symbol:FAM120A ( C9orf10,DNAPTP1,DNAPTP5,MGC111527,MGC133257,OSSA )
Gene Full Name: family with sequence similarity 120A
Band: 9q22.31
Quick LinksEntrez ID:23196; OMIM: 612265; Uniprot ID:F120A_HUMAN; ENSEMBL ID: ENSG00000048828; HGNC ID: 13247
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 body11 / 70761155
blastocyst7 / 62319112
fetus48 / 56401285
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult180 / 193912192
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma4 / 17475228
breast (mammary gland) tumor4 / 9417842
cervical tumor10 / 34366290
chondrosarcoma25 / 82823301
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor11 / 11936992
germ cell tumor25 / 26384594
glioma14 / 106883130
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia7 / 9584273
liver tumor7 / 9635972
lung tumor11 / 103127106
lymphoma6 / 7175583
non-neoplasia5 / 9725051
normal280 / 336030783
ovarian tumor6 / 7668278
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer23 / 102680223
retinoblastoma2 / 4635643
skin tumor8 / 12494964
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites5 / 40015124
bladder7 / 29757235
blood9 / 12347872
bone22 / 71655307
bone marrow3 / 4880161
brain26 / 110098923
cervix10 / 48171207
connective tissue11 / 14925573
ear5 / 16212308
embryonic tissue25 / 215722115
esophagus1 / 2020949
eye24 / 211054113
heart11 / 89626122
intestine11 / 23447246
kidney22 / 211777103
larynx0 / 241450 
liver17 / 20774381
lung52 / 336974154
lymph1 / 4427022
lymph node36 / 91610392
mammary gland21 / 153271137
mouth0 / 670520 
muscle3 / 10771527
nerve3 / 15768190
ovary7 / 10205168
pancreas15 / 21481269
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta30 / 280825106
prostate32 / 189345169
salivary gland1 / 2015549
skin19 / 21057490
spleen0 / 539520 
stomach7 / 9661972
testis11 / 33044233
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus25 / 232878107
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200767_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts82.35
Adipocyte64.45
AdrenalCortex58.95
Adrenalgland48.35
Amygdala56.1
Appendix56.75
AtrioventricularNode42.75
BDCA4+_DentriticCells92.6
Bonemarrow56.85
BronchialEpithelialCells57.9
CD105+_Endothelial72.85
CD14+_Monocytes113.95
CD19+_BCells(neg._sel.)82.05
CD33+_Myeloid121.55
CD34+84.85
CD4+_Tcells79.2
CD56+_NKCells108.5
CD71+_EarlyErythroid53.65
CD8+_Tcells63.55
CardiacMyocytes69.4
Caudatenucleus50.65
Cerebellum46.3
CerebellumPeduncles63.85
CiliaryGanglion39.7
CingulateCortex73.95
Colorectaladenocarcinoma57.2
DorsalRootGanglion42.75
FetalThyroid55.25
Fetalbrain51.45
Fetalliver48.8
Fetallung46.2
GlobusPallidus44.15
Heart71.7
Hypothalamus61.3
Kidney45.55
Leukemia_chronicMyelogenousK-56250.8
Leukemia_promyelocytic-HL-6047.25
Leukemialymphoblastic(MOLT-4)45.3
Liver73.75
Lung61.7
Lymphnode48.4
Lymphoma_burkitts(Daudi)71.65
Lymphoma_burkitts(Raji)77.95
MedullaOblongata52.9
OccipitalLobe51.15
OlfactoryBulb44.8
Ovary35.15
Pancreas45.45
PancreaticIslet60.15
ParietalLobe67.1
Pituitary65.75
Placenta74.25
Pons53.9
PrefrontalCortex70.2
Prostate66.85
Salivarygland45.1
SkeletalMuscle68.8
Skin42.85
SmoothMuscle64.15
Spinalcord60.25
SubthalamicNucleus59.05
SuperiorCervicalGanglion63.3
TemporalLobe51.7
Testis48.2
TestisGermCell39.65
TestisIntersitial44.55
TestisLeydigCell55.6
TestisSeminiferousTubule48.95
Thalamus57.25
Thymus44.4
Thyroid68.25
Tongue69.1
Tonsil57.55
Trachea51.45
TrigeminalGanglion55.35
Uterus51.9
UterusCorpus50.5
WholeBlood61.65
Wholebrain47.7
colon90.9
pineal_day71.74
pineal_night69.8
retina72.75
small_intestine98.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P138022
  • 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
Amygdala6.98 ± 0.27
Basal Forebrain7.08 ± 0.3
Basal Part of Pons6.82 ± 0.17
Cerebellar Cortex6.93 ± 0.26
Cerebellar Nuclei6.8 ± 0.26
Claustrum7.12 ± 0.4
Epithalamus7.2 ± 0.33
Frontal Lobe7 ± 0.28
Globus Pallidus7.23 ± 0.23
Hypothalamus6.95 ± 0.32
Insula7.02 ± 0.31
Limbic Lobe6.99 ± 0.23
Mesencephalon6.99 ± 0.29
Myelencephalon7.01 ± 0.27
Occipital Lobe6.89 ± 0.25
Parietal Lobe6.95 ± 0.23
Pontine Tegmentum6.99 ± 0.31
Striatum7.19 ± 0.19
Subthalamus6.82 ± 0.19
Temporal Lobe7.07 ± 0.24
Thalamus6.97 ± 0.29
White Matter7.55 ± 0.34
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
F120A_HUMAN_37 9 37 45 QRPPQTPLR PRIDE
F120A_HUMAN_45 11 45 55 LLVDADNCLHR PRIDE
F120A_HUMAN_851 23 851 873 QSHTLPFPPPPALPFYPASAYPR PRIDE
PAp00002114 21 817 837 EKTPLIDLCDGQADQAAKVEK 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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