AutismKB 2.0

Annotation Detail for AFF2


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Basic Information Top
Gene Symbol:AFF2 ( FMR2,FRAXE,MRX2,OX19 )
Gene Full Name: AF4/FMR2 family, member 2
Band: Xq28
Quick LinksEntrez ID:2334; OMIM: 300806; Uniprot ID:AFF2_HUMAN; ENSEMBL ID: ENSG00000155966; HGNC ID: 3776
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 
blastocyst1 / 6231916
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult27 / 193912113
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia8 / 9584283
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal50 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
blood8 / 12347864
bone0 / 716550 
bone marrow0 / 488010 
brain26 / 110098923
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node8 / 9161087
mammary gland0 / 1532710 
mouth2 / 6705229
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216364_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.65
Adipocyte4.6
AdrenalCortex4.95
Adrenalgland4
Amygdala4.85
Appendix6.65
AtrioventricularNode3.6
BDCA4+_DentriticCells4.85
Bonemarrow7.55
BronchialEpithelialCells4.55
CD105+_Endothelial4.65
CD14+_Monocytes4.9
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid5.8
CD34+5.9
CD4+_Tcells5.1
CD56+_NKCells5.45
CD71+_EarlyErythroid4.4
CD8+_Tcells4.35
CardiacMyocytes6.45
Caudatenucleus4.15
Cerebellum3.75
CerebellumPeduncles5.6
CiliaryGanglion3.25
CingulateCortex4.75
Colorectaladenocarcinoma4.6
DorsalRootGanglion3.5
FetalThyroid4.5
Fetalbrain4.6
Fetalliver4.1
Fetallung3.8
GlobusPallidus3.35
Heart6.35
Hypothalamus5
Kidney3.95
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)3.75
Liver6.25
Lung5
Lymphnode4
Lymphoma_burkitts(Daudi)7.7
Lymphoma_burkitts(Raji)6.85
MedullaOblongata4.25
OccipitalLobe4.15
OlfactoryBulb3.65
Ovary3.1
Pancreas3.8
PancreaticIslet4.95
ParietalLobe5.1
Pituitary5.8
Placenta4.7
Pons4.45
PrefrontalCortex5.7
Prostate5.4
Salivarygland3.75
SkeletalMuscle7.1
Skin3.5
SmoothMuscle5.25
Spinalcord4.95
SubthalamicNucleus4.2
SuperiorCervicalGanglion5.35
TemporalLobe4.3
Testis4.05
TestisGermCell3.8
TestisIntersitial3.9
TestisLeydigCell4.6
TestisSeminiferousTubule4
Thalamus4.7
Thymus3.65
Thyroid5.75
Tongue4.65
Tonsil4.55
Trachea3.85
TrigeminalGanglion4.9
Uterus3.8
UterusCorpus4.25
WholeBlood5.05
Wholebrain3.85
colon4.7
pineal_day5.76
pineal_night5.6
retina5.625
small_intestine4.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10375_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
Amygdala7.3 ± 0.51
Basal Forebrain6.1 ± 0.37
Basal Part of Pons6.25 ± 0.52
Cerebellar Cortex7.25 ± 0.22
Cerebellar Nuclei6.46 ± 0.5
Claustrum7.74 ± 0.88
Epithalamus5.06 ± 1.37
Frontal Lobe6.38 ± 0.64
Globus Pallidus6.71 ± 0.39
Hypothalamus6.57 ± 0.76
Insula6.63 ± 0.39
Limbic Lobe7.33 ± 0.79
Mesencephalon6.67 ± 0.8
Myelencephalon6.59 ± 1.01
Occipital Lobe7.07 ± 0.64
Parietal Lobe6.65 ± 0.63
Pontine Tegmentum6.66 ± 0.58
Striatum4.67 ± 0.78
Subthalamus6.73 ± 0.39
Temporal Lobe6.84 ± 0.44
Thalamus6.23 ± 0.57
White Matter3.95 ± 1.51
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AFF2_HUMAN_1196 13 1196 1208 VAQIPSPWVSNGK PRIDE
AFF2_HUMAN_1209 30 1209 1238 NTPSPVSLNNVSPINAMGNCNNGPVTIPQR PRIDE
AFF2_HUMAN_1299 7 1299 1305 QGLCWLR PRIDE
AFF2_HUMAN_155 7 155 161 SKPEWSR PRIDE
AFF2_HUMAN_441 21 441 461 TLTTQCTATELYQAVEKAKPR PRIDE
AFF2_HUMAN_614 11 614 624 LSTTSETVSQR PRIDE
AFF2_HUMAN_614 15 614 628 LSTTSETVSQRTIGK PRIDE
AFF2_HUMAN_673 9 673 681 ATAHKPAPR PRIDE
AFF2_HUMAN_83 17 83 99 NLLTNHSNQNHLVGIPK PRIDE
AFF2_HUMAN_967 11 967 977 GISVNEGDTPK 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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