AutismKB 2.0

Annotation Detail for TFAP4


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Basic Information Top
Gene Symbol:TFAP4 ( AP-4,bHLHc41 )
Gene Full Name: transcription factor AP-4 (activating enhancer binding protein 4)
Band: 16p13.3
Quick LinksEntrez ID:7023; OMIM: 600743; Uniprot ID:TFAP4_HUMAN; ENSEMBL ID: ENSG00000090447; HGNC ID: 11745
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
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult12 / 19391216
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor6 / 26384522
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal17 / 33603075
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain4 / 11009893
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine5 / 23447221
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate3 / 18934515
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205688_at
Cell line Expression level Expression bar
721_B_lymphoblasts90.7
Adipocyte91.65
AdrenalCortex92.4
Adrenalgland79.6
Amygdala93.75
Appendix158.85
AtrioventricularNode106.45
BDCA4+_DentriticCells45.9
Bonemarrow126.1
BronchialEpithelialCells50.95
CD105+_Endothelial83.15
CD14+_Monocytes58.3
CD19+_BCells(neg._sel.)43.7
CD33+_Myeloid69.9
CD34+66.4
CD4+_Tcells94.15
CD56+_NKCells53.2
CD71+_EarlyErythroid64.15
CD8+_Tcells66.05
CardiacMyocytes101
Caudatenucleus101.75
Cerebellum85.9
CerebellumPeduncles122.5
CiliaryGanglion143.5
CingulateCortex133.85
Colorectaladenocarcinoma88.6
DorsalRootGanglion92.1
FetalThyroid86
Fetalbrain96.9
Fetalliver76.85
Fetallung73.95
GlobusPallidus115.25
Heart110.85
Hypothalamus90.6
Kidney108.65
Leukemia_chronicMyelogenousK-56283.7
Leukemia_promyelocytic-HL-6085.55
Leukemialymphoblastic(MOLT-4)77.05
Liver115.2
Lung62.65
Lymphnode76.75
Lymphoma_burkitts(Daudi)132.75
Lymphoma_burkitts(Raji)122.15
MedullaOblongata96.95
OccipitalLobe88.3
OlfactoryBulb86.95
Ovary67.25
Pancreas76.75
PancreaticIslet94.65
ParietalLobe126.9
Pituitary144.95
Placenta74.15
Pons110.35
PrefrontalCortex98.95
Prostate85.3
Salivarygland124.3
SkeletalMuscle106.15
Skin89.3
SmoothMuscle63.15
Spinalcord94.4
SubthalamicNucleus165.4
SuperiorCervicalGanglion134.45
TemporalLobe119.75
Testis76.15
TestisGermCell75.85
TestisIntersitial71.4
TestisLeydigCell105.3
TestisSeminiferousTubule101.8
Thalamus107
Thymus69.55
Thyroid94.35
Tongue88.95
Tonsil86
Trachea112.8
TrigeminalGanglion108.6
Uterus68.15
UterusCorpus114.2
WholeBlood96.55
Wholebrain74.5
colon85.55
pineal_day88.76
pineal_night79.34
retina113.45
small_intestine82.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9344_PI416261804
  • 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
Amygdala2.13 ± 1.04
Basal Forebrain1.83 ± 0.16
Basal Part of Pons1.74 ± 0.69
Cerebellar Cortex2.06 ± 0.77
Cerebellar Nuclei2.09 ± 0.68
Claustrum2.87 ± 0.75
Epithalamus1.43 ± 0.82
Frontal Lobe1.74 ± 0.74
Globus Pallidus2.1 ± 0.58
Hypothalamus1.99 ± 0.77
Insula1.32 ± 0.62
Limbic Lobe1.81 ± 0.79
Mesencephalon2.11 ± 0.86
Myelencephalon1.9 ± 0.73
Occipital Lobe1.94 ± 0.6
Parietal Lobe2 ± 0.9
Pontine Tegmentum1.88 ± 0.77
Striatum2.03 ± 0.82
Subthalamus1.95 ± 0.81
Temporal Lobe1.76 ± 0.7
Thalamus1.81 ± 0.66
White Matter2.21 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tcfap4CBCerebellum21.36
24.37
Tcfap4CTXCerebral cortex12.85
8.78
Tcfap4HIPHippocampal region18.19
19.81
Tcfap4HPFHippocampal formation14.21
13.82
Tcfap4HYHypothalamus3.48
2.57
Tcfap4LSXLateral septal complex1.27
0.88
Tcfap4MBMidbrain5.34
4.59
Tcfap4MYMedulla12.26
12.21
Tcfap4OLFOlfactory bulb16.81
12.77
Tcfap4PPons7.59
7.41
Tcfap4PALPallidum5.65
4.61
Tcfap4RHPRetrohippocampal region7.23
5.45
Tcfap4sAMYStriatum-like amygdalar nuclei7.08
5.51
Tcfap4STRStriatum7.76
5.43
Tcfap4STRdStriatum dorsal region7.68
5.41
Tcfap4STRvStriatum ventral region9.86
6.35
Tcfap4THThalamus6.77
5.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
TFAP4_HUMAN_154 6 154 159 EMIELR 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