AutismKB 2.0

Annotation Detail for AFAP1


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Basic Information Top
Gene Symbol:AFAP1 ( AFAP,AFAP-110,FLJ56849 )
Gene Full Name: actin filament associated protein 1
Band: 4p16.1
Quick LinksEntrez ID:60312; OMIM: 608252; Uniprot ID:AFAP1_HUMAN; ENSEMBL ID: ENSG00000196526; HGNC ID: 24017
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 body14 / 70761197
blastocyst1 / 6231916
fetus27 / 56401247
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult70 / 193912136
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor6 / 26384522
glioma5 / 10688346
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal138 / 336030741
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
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
bladder1 / 2975733
blood0 / 1234780 
bone5 / 7165569
bone marrow1 / 4880120
brain53 / 110098948
cervix1 / 4817120
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue15 / 21572269
esophagus1 / 2020949
eye4 / 21105418
heart0 / 896260 
intestine5 / 23447221
kidney9 / 21177742
larynx0 / 241450 
liver2 / 2077439
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth3 / 6705244
muscle7 / 10771564
nerve0 / 157680 
ovary4 / 10205139
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate3 / 18934515
salivary gland0 / 201550 
skin11 / 21057452
spleen1 / 5395218
stomach2 / 9661920
testis21 / 33044263
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus9 / 23287838
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203563_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.35
Adipocyte12.6
AdrenalCortex24.1
Adrenalgland13
Amygdala14.85
Appendix22.5
AtrioventricularNode26.6
BDCA4+_DentriticCells10.25
Bonemarrow17.9
BronchialEpithelialCells12.25
CD105+_Endothelial12.75
CD14+_Monocytes14.9
CD19+_BCells(neg._sel.)12.65
CD33+_Myeloid14.5
CD34+13.95
CD4+_Tcells11.2
CD56+_NKCells12.45
CD71+_EarlyErythroid13.65
CD8+_Tcells9.2
CardiacMyocytes49.7
Caudatenucleus12
Cerebellum11.25
CerebellumPeduncles20
CiliaryGanglion20.65
CingulateCortex14.75
Colorectaladenocarcinoma12.1
DorsalRootGanglion16.8
FetalThyroid16.65
Fetalbrain15.8
Fetalliver11.85
Fetallung13.45
GlobusPallidus12.9
Heart31.95
Hypothalamus12.2
Kidney14.6
Leukemia_chronicMyelogenousK-56211.05
Leukemia_promyelocytic-HL-6011.2
Leukemialymphoblastic(MOLT-4)8.55
Liver26.5
Lung14.55
Lymphnode9.95
Lymphoma_burkitts(Daudi)18.85
Lymphoma_burkitts(Raji)23.85
MedullaOblongata10.6
OccipitalLobe11.6
OlfactoryBulb9.8
Ovary13.15
Pancreas12.9
PancreaticIslet15
ParietalLobe17.85
Pituitary16.8
Placenta12.15
Pons14.75
PrefrontalCortex13.6
Prostate14.25
Salivarygland12.2
SkeletalMuscle32.15
Skin20.85
SmoothMuscle25.2
Spinalcord13.05
SubthalamicNucleus15
SuperiorCervicalGanglion31.5
TemporalLobe14.35
Testis11.1
TestisGermCell8.85
TestisIntersitial12.35
TestisLeydigCell15.85
TestisSeminiferousTubule11.35
Thalamus14.95
Thymus9.2
Thyroid14.6
Tongue20.3
Tonsil14.2
Trachea10.45
TrigeminalGanglion28.65
Uterus16.25
UterusCorpus23.7
WholeBlood13.25
Wholebrain9.25
colon20.85
pineal_day15.88
pineal_night15.92
retina16.4
small_intestine14.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6688_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
Amygdala4.16 ± 0.69
Basal Forebrain3.65 ± 0.48
Basal Part of Pons3.59 ± 0.48
Cerebellar Cortex3.47 ± 0.55
Cerebellar Nuclei3.81 ± 0.49
Claustrum4.09 ± 0.84
Epithalamus3.18 ± 0.48
Frontal Lobe3.53 ± 0.57
Globus Pallidus3.88 ± 0.78
Hypothalamus3.43 ± 0.48
Insula3.46 ± 0.62
Limbic Lobe3.69 ± 0.58
Mesencephalon3.73 ± 0.72
Myelencephalon3.7 ± 0.61
Occipital Lobe3.52 ± 0.6
Parietal Lobe3.63 ± 0.69
Pontine Tegmentum3.65 ± 0.6
Striatum3.7 ± 0.6
Subthalamus3.62 ± 0.53
Temporal Lobe3.73 ± 0.56
Thalamus3.49 ± 0.61
White Matter3.76 ± 0.81
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2600003E23RikCBCerebellum16.27
20.21
2600003E23RikCTXCerebral cortex35.16
30.32
2600003E23RikHIPHippocampal region19.59
23.75
2600003E23RikHPFHippocampal formation22.54
23.23
2600003E23RikHYHypothalamus8.29
6.41
2600003E23RikLSXLateral septal complex5.03
4.76
2600003E23RikMBMidbrain13.08
11.47
2600003E23RikMYMedulla15.16
16.11
2600003E23RikOLFOlfactory bulb33.36
29.04
2600003E23RikPPons11.52
11.87
2600003E23RikPALPallidum10.47
8.61
2600003E23RikRHPRetrohippocampal region28.65
23.66
2600003E23RiksAMYStriatum-like amygdalar nuclei10.28
8.07
2600003E23RikSTRStriatum11.33
8.71
2600003E23RikSTRdStriatum dorsal region12.35
9.12
2600003E23RikSTRvStriatum ventral region11.41
8.96
2600003E23RikTHThalamus42.88
34.87
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


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