AutismKB 2.0

Annotation Detail for OFD1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:OFD1 ( 71-7A,CXorf5,JBTS10,MGC117039,MGC117040,SGBS2 )
Gene Full Name: oral-facial-digital syndrome 1
Band: Xp22.2
Quick LinksEntrez ID:8481; OMIM: 300170; Uniprot ID:OFD1_HUMAN; ENSEMBL ID: ENSG00000046651; HGNC ID: 2567
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 
blastocyst5 / 6231980
fetus34 / 56401260
neonate2 / 3109764
infant0 / 236200 
juvenile3 / 5555653
adult106 / 193912154
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) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor11 / 26384541
glioma21 / 106883196
head and neck tumor10 / 13630273
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal133 / 336030739
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites3 / 4001574
bladder1 / 2975733
blood4 / 12347832
bone0 / 716550 
bone marrow0 / 488010 
brain57 / 110098951
cervix1 / 4817120
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye4 / 21105418
heart3 / 8962633
intestine11 / 23447246
kidney5 / 21177723
larynx5 / 24145207
liver13 / 20774362
lung16 / 33697447
lymph0 / 442700 
lymph node3 / 9161032
mammary gland18 / 153271117
mouth1 / 6705214
muscle8 / 10771574
nerve0 / 157680 
ovary3 / 10205129
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta5 / 28082517
prostate7 / 18934536
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach0 / 966190 
testis25 / 33044275
thymus3 / 8113136
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203569_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts545.05
Adipocyte48.45
AdrenalCortex66.9
Adrenalgland46.35
Amygdala83.75
Appendix103.75
AtrioventricularNode58.9
BDCA4+_DentriticCells2088.55
Bonemarrow55.45
BronchialEpithelialCells70.55
CD105+_Endothelial255.4
CD14+_Monocytes123.25
CD19+_BCells(neg._sel.)794.3
CD33+_Myeloid181.1
CD34+779.6
CD4+_Tcells668.15
CD56+_NKCells857.15
CD71+_EarlyErythroid186.25
CD8+_Tcells714.45
CardiacMyocytes67.15
Caudatenucleus77.25
Cerebellum56.6
CerebellumPeduncles81.5
CiliaryGanglion51.5
CingulateCortex48.5
Colorectaladenocarcinoma177.05
DorsalRootGanglion58.15
FetalThyroid116.05
Fetalbrain75.3
Fetalliver66.95
Fetallung113.05
GlobusPallidus50.5
Heart73.65
Hypothalamus121.8
Kidney52
Leukemia_chronicMyelogenousK-562137.85
Leukemia_promyelocytic-HL-60102.65
Leukemialymphoblastic(MOLT-4)91
Liver103.05
Lung60.35
Lymphnode206.5
Lymphoma_burkitts(Daudi)158.95
Lymphoma_burkitts(Raji)155.6
MedullaOblongata61.25
OccipitalLobe61.8
OlfactoryBulb134.25
Ovary56.05
Pancreas63.3
PancreaticIslet124.3
ParietalLobe64.85
Pituitary119.5
Placenta64.6
Pons51.6
PrefrontalCortex114.3
Prostate91.2
Salivarygland79.1
SkeletalMuscle75.65
Skin59.1
SmoothMuscle50.6
Spinalcord102.5
SubthalamicNucleus46.35
SuperiorCervicalGanglion73.15
TemporalLobe54.9
Testis55.45
TestisGermCell103.95
TestisIntersitial80.4
TestisLeydigCell86.25
TestisSeminiferousTubule112.55
Thalamus79.6
Thymus41.8
Thyroid158.65
Tongue85
Tonsil154.3
Trachea57.55
TrigeminalGanglion39.3
Uterus136.85
UterusCorpus65.85
WholeBlood85.55
Wholebrain41.8
colon50.85
pineal_day163.94
pineal_night101.22
retina99.375
small_intestine39.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P254226
  • 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
Amygdala5.58 ± 0.31
Basal Forebrain5.81 ± 0.19
Basal Part of Pons5.44 ± 0.51
Cerebellar Cortex5.84 ± 0.18
Cerebellar Nuclei5.56 ± 0.57
Claustrum5.78 ± 0.42
Epithalamus6.1 ± 0.26
Frontal Lobe5.38 ± 0.42
Globus Pallidus5.95 ± 0.48
Hypothalamus5.58 ± 0.45
Insula5.36 ± 0.22
Limbic Lobe5.39 ± 0.46
Mesencephalon5.62 ± 0.38
Myelencephalon5.55 ± 0.46
Occipital Lobe5.66 ± 0.41
Parietal Lobe5.5 ± 0.43
Pontine Tegmentum5.56 ± 0.49
Striatum5.76 ± 0.49
Subthalamus5.7 ± 0.35
Temporal Lobe5.43 ± 0.38
Thalamus5.6 ± 0.32
White Matter6.85 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ofd1CBCerebellum4.98
5.76
Ofd1CTXCerebral cortex2.51
1.73
Ofd1HIPHippocampal region5.71
5.17
Ofd1HPFHippocampal formation5.9
4.8
Ofd1HYHypothalamus0.33
0.44
Ofd1LSXLateral septal complex0.47
0.29
Ofd1MBMidbrain0.93
0.95
Ofd1MYMedulla2.67
2.88
Ofd1OLFOlfactory bulb5.25
3.4
Ofd1PPons1.66
1.6
Ofd1PALPallidum0.69
0.54
Ofd1RHPRetrohippocampal region6.1
4.22
Ofd1sAMYStriatum-like amygdalar nuclei0.38
0.7
Ofd1STRStriatum1
1.04
Ofd1STRdStriatum dorsal region1.28
1.49
Ofd1STRvStriatum ventral region0.76
0.41
Ofd1THThalamus1.41
1.68
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
OFD1_HUMAN_463 5 463 467 NENLR PRIDE

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved