AutismKB 2.0

Annotation Detail for AFF4


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Basic Information Top
Gene Symbol:AFF4 ( AF5Q31,MCEF,MGC75036 )
Gene Full Name: AF4/FMR2 family, member 4
Band: 5q31.1
Quick LinksEntrez ID:27125; OMIM: 604417; Uniprot ID:AFF4_HUMAN; ENSEMBL ID: ENSG00000072364; HGNC ID: 17869
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
blastocyst7 / 62319112
fetus53 / 56401293
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult157 / 193912180
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor5 / 12794390
bladder carcinoma0 / 174750 
breast (mammary gland) tumor12 / 94178127
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor10 / 13630273
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia9 / 9725092
normal260 / 336030777
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer9 / 10268087
retinoblastoma4 / 4635686
skin tumor4 / 12494932
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland6 / 33197180
ascites4 / 4001599
bladder1 / 2975733
blood5 / 12347840
bone7 / 7165597
bone marrow3 / 4880161
brain59 / 110098953
cervix1 / 4817120
connective tissue6 / 14925540
ear3 / 16212185
embryonic tissue23 / 215722106
esophagus1 / 2020949
eye16 / 21105475
heart7 / 8962678
intestine10 / 23447242
kidney12 / 21177756
larynx2 / 2414582
liver15 / 20774372
lung21 / 33697462
lymph2 / 4427045
lymph node5 / 9161054
mammary gland32 / 153271208
mouth5 / 6705274
muscle6 / 10771555
nerve2 / 15768126
ovary2 / 10205119
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta13 / 28082546
prostate19 / 189345100
salivary gland0 / 201550 
skin4 / 21057418
spleen4 / 5395274
stomach7 / 9661972
testis29 / 33044287
thymus11 / 81131135
thyroid2 / 4747342
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord0 / 136800 
uterus31 / 232878133
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219199_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.05
Adipocyte4.75
AdrenalCortex5.05
Adrenalgland4
Amygdala5.05
Appendix6.35
AtrioventricularNode4.1
BDCA4+_DentriticCells5.15
Bonemarrow4.7
BronchialEpithelialCells4.75
CD105+_Endothelial4.8
CD14+_Monocytes5.1
CD19+_BCells(neg._sel.)5
CD33+_Myeloid6.05
CD34+6.1
CD4+_Tcells5.25
CD56+_NKCells5.75
CD71+_EarlyErythroid4.5
CD8+_Tcells4.7
CardiacMyocytes6.05
Caudatenucleus4.25
Cerebellum3.85
CerebellumPeduncles5.4
CiliaryGanglion3.65
CingulateCortex4.9
Colorectaladenocarcinoma4.8
DorsalRootGanglion3.6
FetalThyroid4.6
Fetalbrain4.75
Fetalliver4.15
Fetallung3.85
GlobusPallidus3.5
Heart6.45
Hypothalamus5.25
Kidney3.9
Leukemia_chronicMyelogenousK-5624.3
Leukemia_promyelocytic-HL-604.2
Leukemialymphoblastic(MOLT-4)3.9
Liver6.45
Lung5.25
Lymphnode4.05
Lymphoma_burkitts(Daudi)6.05
Lymphoma_burkitts(Raji)6.7
MedullaOblongata4.4
OccipitalLobe4.3
OlfactoryBulb3.8
Ovary3.2
Pancreas3.85
PancreaticIslet5.1
ParietalLobe5
Pituitary5.6
Placenta4.95
Pons4.5
PrefrontalCortex6.05
Prostate5.65
Salivarygland3.85
SkeletalMuscle5.9
Skin3.75
SmoothMuscle5.45
Spinalcord5.05
SubthalamicNucleus4.3
SuperiorCervicalGanglion5.85
TemporalLobe4.4
Testis14.25
TestisGermCell7.05
TestisIntersitial27.85
TestisLeydigCell5.05
TestisSeminiferousTubule10.35
Thalamus4.85
Thymus3.8
Thyroid6.05
Tongue4.65
Tonsil4.65
Trachea4
TrigeminalGanglion4.7
Uterus3.95
UterusCorpus4.25
WholeBlood5.3
Wholebrain4.1
colon4.85
pineal_day6.02
pineal_night5.88
retina5.8
small_intestine4.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P942636
  • 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
Amygdala5.65 ± 0.41
Basal Forebrain5.93 ± 0.26
Basal Part of Pons5.05 ± 0.34
Cerebellar Cortex5.75 ± 0.32
Cerebellar Nuclei5.28 ± 0.57
Claustrum5.61 ± 0.68
Epithalamus5.62 ± 0.24
Frontal Lobe5.51 ± 0.38
Globus Pallidus5.68 ± 0.39
Hypothalamus5.85 ± 0.48
Insula5.6 ± 0.5
Limbic Lobe5.76 ± 0.35
Mesencephalon5.74 ± 0.38
Myelencephalon5.63 ± 0.44
Occipital Lobe5.75 ± 0.31
Parietal Lobe5.69 ± 0.4
Pontine Tegmentum5.72 ± 0.32
Striatum5.87 ± 0.41
Subthalamus5.56 ± 0.1
Temporal Lobe5.58 ± 0.35
Thalamus5.57 ± 0.32
White Matter6.31 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aff4CBCerebellum60.8
47.14
Aff4CTXCerebral cortex64.17
37.21
Aff4HIPHippocampal region71.73
94.09
Aff4HPFHippocampal formation64.46
72.92
Aff4HYHypothalamus73.53
46.95
Aff4LSXLateral septal complex69.6
39.34
Aff4MBMidbrain55.96
37.63
Aff4MYMedulla50.39
40.31
Aff4OLFOlfactory bulb100
59.26
Aff4PPons47.93
36.75
Aff4PALPallidum57.98
39.74
Aff4RHPRetrohippocampal region47.91
36.42
Aff4sAMYStriatum-like amygdalar nuclei48.21
30.17
Aff4STRStriatum60.62
33.82
Aff4STRdStriatum dorsal region53.68
29.92
Aff4STRvStriatum ventral region86.39
44.96
Aff4THThalamus37.25
23.59
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009302 21 882 902 APSSSSNCPPSAPTLDSSKPR Peptide Atlas

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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