AutismKB 2.0

Annotation Detail for AFF3


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Basic Information Top
Gene Symbol:AFF3 ( LAF4,MLLT2-like )
Gene Full Name: AF4/FMR2 family, member 3
Band: 2q11.2
Quick LinksEntrez ID:3899; OMIM: 601464; Uniprot ID:AFF3_HUMAN; ENSEMBL ID: ENSG00000144218; HGNC ID: 6473
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 body2 / 7076128
blastocyst0 / 623190 
fetus94 / 564012166
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult43 / 193912122
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia13 / 95842135
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal204 / 336030760
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone3 / 7165541
bone marrow1 / 4880120
brain92 / 110098983
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye9 / 21105442
heart2 / 8962622
intestine0 / 2344720 
kidney4 / 21177718
larynx0 / 241450 
liver0 / 2077430 
lung9 / 33697426
lymph1 / 4427022
lymph node35 / 91610382
mammary gland5 / 15327132
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate5 / 18934526
salivary gland0 / 201550 
skin3 / 21057414
spleen2 / 5395237
stomach1 / 9661910
testis8 / 33044224
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus2 / 2328788
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205735_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.6
Adipocyte7.2
AdrenalCortex7.95
Adrenalgland6.3
Amygdala7.3
Appendix8.7
AtrioventricularNode6
BDCA4+_DentriticCells7.8
Bonemarrow7.2
BronchialEpithelialCells7.05
CD105+_Endothelial7.2
CD14+_Monocytes8.15
CD19+_BCells(neg._sel.)7.55
CD33+_Myeloid9.05
CD34+8.85
CD4+_Tcells8
CD56+_NKCells8.3
CD71+_EarlyErythroid7.3
CD8+_Tcells6.7
CardiacMyocytes11.05
Caudatenucleus6.55
Cerebellum5.9
CerebellumPeduncles8.9
CiliaryGanglion5.6
CingulateCortex7.5
Colorectaladenocarcinoma7.25
DorsalRootGanglion5.95
FetalThyroid7.1
Fetalbrain7.3
Fetalliver6.4
Fetallung5.8
GlobusPallidus5.45
Heart10.05
Hypothalamus7.6
Kidney6.15
Leukemia_chronicMyelogenousK-5626.6
Leukemia_promyelocytic-HL-606.4
Leukemialymphoblastic(MOLT-4)5.9
Liver10.05
Lung7.7
Lymphnode5.95
Lymphoma_burkitts(Daudi)9.35
Lymphoma_burkitts(Raji)11.55
MedullaOblongata6.7
OccipitalLobe6.15
OlfactoryBulb5.65
Ovary4.85
Pancreas6.55
PancreaticIslet8.1
ParietalLobe7.8
Pituitary8.5
Placenta7.15
Pons9.6
PrefrontalCortex8
Prostate8.35
Salivarygland5.9
SkeletalMuscle9.35
Skin5.9
SmoothMuscle8.15
Spinalcord7.75
SubthalamicNucleus6.75
SuperiorCervicalGanglion8.75
TemporalLobe6.7
Testis6.3
TestisGermCell6.05
TestisIntersitial6.3
TestisLeydigCell7.3
TestisSeminiferousTubule6.15
Thalamus7.4
Thymus5.55
Thyroid8.95
Tongue7.85
Tonsil7.1
Trachea6.05
TrigeminalGanglion12.4
Uterus5.85
UterusCorpus6.75
WholeBlood7.95
Wholebrain5.8
colon7.3
pineal_day8.92
pineal_night8.76
retina8.675
small_intestine6.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P366670
  • 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
Amygdala6.02 ± 0.72
Basal Forebrain5.22 ± 0.34
Basal Part of Pons5.87 ± 0.53
Cerebellar Cortex5.83 ± 0.34
Cerebellar Nuclei5.24 ± 0.39
Claustrum6.54 ± 0.74
Epithalamus4.83 ± 0.54
Frontal Lobe5.36 ± 0.55
Globus Pallidus4.87 ± 0.55
Hypothalamus4.92 ± 0.55
Insula5.26 ± 0.49
Limbic Lobe5.89 ± 0.63
Mesencephalon5.51 ± 0.67
Myelencephalon5.57 ± 0.64
Occipital Lobe5.62 ± 0.44
Parietal Lobe5.61 ± 0.62
Pontine Tegmentum5.36 ± 0.62
Striatum5.63 ± 0.8
Subthalamus5.69 ± 0.57
Temporal Lobe5.55 ± 0.61
Thalamus5.3 ± 0.51
White Matter4.17 ± 0.64
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aff3CBCerebellum16.97
19.07
Aff3CTXCerebral cortex54.77
47.92
Aff3HIPHippocampal region43.82
77.38
Aff3HPFHippocampal formation44.8
61.49
Aff3HYHypothalamus29.92
25.1
Aff3LSXLateral septal complex30.3
27.37
Aff3MBMidbrain26.93
25.3
Aff3MYMedulla47.08
55.12
Aff3OLFOlfactory bulb42.18
34.11
Aff3PPons32.02
36.17
Aff3PALPallidum35.86
37.3
Aff3RHPRetrohippocampal region46.36
40.12
Aff3sAMYStriatum-like amygdalar nuclei29.73
23.36
Aff3STRStriatum67.06
52.87
Aff3STRdStriatum dorsal region88.77
71.63
Aff3STRvStriatum ventral region32.68
22.14
Aff3THThalamus33.29
32.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AFF3_HUMAN_709 20 709 728 EAAANGGSGPRAPVGSINAR 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