AutismKB 2.0

Annotation Detail for TCOF1


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Basic Information Top
Gene Symbol:TCOF1 ( MFD1,treacle )
Gene Full Name: Treacher Collins-Franceschetti syndrome 1
Band: 5q32-q33.1
Quick LinksEntrez ID:6949; OMIM: 606847; Uniprot ID:TCOF_HUMAN; ENSEMBL ID: ENSG00000070814; HGNC ID: 11654
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 body8 / 70761113
blastocyst9 / 62319144
fetus23 / 56401240
neonate2 / 3109764
infant0 / 236200 
juvenile2 / 5555635
adult132 / 193912168
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor12 / 94178127
cervical tumor2 / 3436658
chondrosarcoma9 / 82823108
colorectal tumor13 / 114246113
esophageal tumor4 / 17290231
gastrointestinal tumor15 / 119369125
germ cell tumor46 / 263845174
glioma18 / 106883168
head and neck tumor11 / 13630280
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor6 / 9635962
lung tumor20 / 103127193
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal128 / 336030738
ovarian tumor16 / 76682208
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer6 / 10268058
retinoblastoma11 / 46356237
skin tumor31 / 124949248
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites5 / 40015124
bladder2 / 2975767
blood5 / 12347840
bone6 / 7165583
bone marrow4 / 4880181
brain52 / 110098947
cervix3 / 4817162
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus4 / 20209197
eye19 / 21105490
heart1 / 8962611
intestine24 / 234472102
kidney7 / 21177733
larynx4 / 24145165
liver8 / 20774338
lung37 / 336974109
lymph1 / 4427022
lymph node9 / 9161098
mammary gland14 / 15327191
mouth6 / 6705289
muscle8 / 10771574
nerve0 / 157680 
ovary17 / 102051166
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta21 / 28082574
prostate9 / 18934547
salivary gland0 / 201550 
skin31 / 210574147
spleen2 / 5395237
stomach2 / 9661920
testis22 / 33044266
thymus4 / 8113149
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord4 / 13680292
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202384_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts119.2
Adipocyte17.1
AdrenalCortex22.55
Adrenalgland14.6
Amygdala13.9
Appendix17.8
AtrioventricularNode35.3
BDCA4+_DentriticCells39.8
Bonemarrow17.55
BronchialEpithelialCells18.6
CD105+_Endothelial76.8
CD14+_Monocytes28.9
CD19+_BCells(neg._sel.)35.65
CD33+_Myeloid52.05
CD34+99.3
CD4+_Tcells84.9
CD56+_NKCells40.1
CD71+_EarlyErythroid24.15
CD8+_Tcells113.75
CardiacMyocytes28.5
Caudatenucleus13.5
Cerebellum14.15
CerebellumPeduncles27.3
CiliaryGanglion16.65
CingulateCortex28.5
Colorectaladenocarcinoma39.3
DorsalRootGanglion20.6
FetalThyroid15.05
Fetalbrain13.75
Fetalliver12.55
Fetallung10.95
GlobusPallidus13
Heart21.05
Hypothalamus17.75
Kidney15.1
Leukemia_chronicMyelogenousK-56259.4
Leukemia_promyelocytic-HL-6030.2
Leukemialymphoblastic(MOLT-4)25.45
Liver18.4
Lung18.2
Lymphnode14.3
Lymphoma_burkitts(Daudi)41.35
Lymphoma_burkitts(Raji)26.5
MedullaOblongata16.25
OccipitalLobe15.05
OlfactoryBulb14.65
Ovary11.75
Pancreas14.35
PancreaticIslet18.8
ParietalLobe26.3
Pituitary16.95
Placenta17.25
Pons16.4
PrefrontalCortex21.9
Prostate19.35
Salivarygland14.05
SkeletalMuscle27.2
Skin24.5
SmoothMuscle19.45
Spinalcord17.9
SubthalamicNucleus24.8
SuperiorCervicalGanglion19.2
TemporalLobe20.4
Testis15.8
TestisGermCell13.75
TestisIntersitial13.35
TestisLeydigCell17.25
TestisSeminiferousTubule28.75
Thalamus19.1
Thymus15.7
Thyroid17.5
Tongue17.85
Tonsil18.9
Trachea14.15
TrigeminalGanglion19.15
Uterus11.75
UterusCorpus15.65
WholeBlood15.15
Wholebrain11.35
colon17.4
pineal_day21.84
pineal_night20.6
retina21.5
small_intestine13.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P243396
  • 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
Amygdala5.54 ± 0.62
Basal Forebrain5.19 ± 0.36
Basal Part of Pons5.45 ± 0.29
Cerebellar Cortex5.21 ± 0.27
Cerebellar Nuclei5.76 ± 0.46
Claustrum5.6 ± 0.46
Epithalamus4.81 ± 0.38
Frontal Lobe5.53 ± 0.39
Globus Pallidus4.71 ± 0.53
Hypothalamus5.26 ± 0.65
Insula5.46 ± 0.4
Limbic Lobe5.34 ± 0.46
Mesencephalon5.48 ± 0.42
Myelencephalon5.41 ± 0.44
Occipital Lobe5.55 ± 0.35
Parietal Lobe5.59 ± 0.38
Pontine Tegmentum5.37 ± 0.51
Striatum5.14 ± 0.52
Subthalamus5.85 ± 0.17
Temporal Lobe5.45 ± 0.36
Thalamus5.39 ± 0.37
White Matter4.49 ± 0.7
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009451 24 38 61 CFLAQPVTLLDIYTHWQQTSELGR Peptide Atlas
TCOF_HUMAN_1168 15 1168 1182 QEAKPQQAAGMLSPK PRIDE
TCOF_HUMAN_426 17 426 442 SPQVKPASTMGMGPLGK PRIDE
TCOF_HUMAN_942 12 942 953 TNVVTMPTAHPR 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


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