AutismKB 2.0

Annotation Detail for FAF1


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Basic Information Top
Gene Symbol:FAF1 ( FLJ37524,HFAF1s,UBXD12,UBXN3A,hFAF1 )
Gene Full Name: Fas (TNFRSF6) associated factor 1
Band: 1p32.3
Quick LinksEntrez ID:11124; OMIM: 604460; Uniprot ID:FAF1_HUMAN; ENSEMBL ID: ENSG00000185104; HGNC ID: 3578
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
blastocyst0 / 623190 
fetus48 / 56401285
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult211 / 1939121108
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma12 / 82823144
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor10 / 26384537
glioma6 / 10688356
head and neck tumor10 / 13630273
kidney tumor7 / 68959101
leukemia6 / 9584262
liver tumor3 / 9635931
lung tumor19 / 103127184
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal182 / 336030754
ovarian tumor13 / 76682169
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer11 / 102680107
retinoblastoma8 / 46356172
skin tumor27 / 124949216
soft tissue/muscle tissue tumor116 / 125191926
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites4 / 4001599
bladder2 / 2975767
blood9 / 12347872
bone12 / 71655167
bone marrow0 / 488010 
brain53 / 110098948
cervix2 / 4817141
connective tissue94 / 149255629
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye20 / 21105494
heart9 / 89626100
intestine13 / 23447255
kidney11 / 21177751
larynx0 / 241450 
liver6 / 20774328
lung41 / 336974121
lymph3 / 4427067
lymph node11 / 91610120
mammary gland10 / 15327165
mouth2 / 6705229
muscle23 / 107715213
nerve1 / 1576863
ovary17 / 102051166
pancreas18 / 21481283
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta13 / 28082546
prostate11 / 18934558
salivary gland3 / 20155148
skin31 / 210574147
spleen1 / 5395218
stomach4 / 9661941
testis26 / 33044278
thymus3 / 8113136
thyroid5 / 47473105
tonsil5 / 16999294
trachea1 / 5241319
umbilical cord0 / 136800 
uterus19 / 23287881
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218080_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts86.25
Adipocyte18.8
AdrenalCortex18.1
Adrenalgland14.5
Amygdala20.9
Appendix17.55
AtrioventricularNode9.7
BDCA4+_DentriticCells21.8
Bonemarrow18.15
BronchialEpithelialCells32.15
CD105+_Endothelial38.7
CD14+_Monocytes20.35
CD19+_BCells(neg._sel.)29.45
CD33+_Myeloid24.9
CD34+39.7
CD4+_Tcells19.1
CD56+_NKCells79.1
CD71+_EarlyErythroid49.75
CD8+_Tcells21.5
CardiacMyocytes21.7
Caudatenucleus16.1
Cerebellum13.3
CerebellumPeduncles18.95
CiliaryGanglion13
CingulateCortex19.05
Colorectaladenocarcinoma39.65
DorsalRootGanglion13.2
FetalThyroid22.85
Fetalbrain15.1
Fetalliver15.1
Fetallung15.45
GlobusPallidus11
Heart23.25
Hypothalamus25.3
Kidney15.55
Leukemia_chronicMyelogenousK-562118.4
Leukemia_promyelocytic-HL-6026.5
Leukemialymphoblastic(MOLT-4)63.1
Liver23.85
Lung20.5
Lymphnode14.55
Lymphoma_burkitts(Daudi)91.5
Lymphoma_burkitts(Raji)25.55
MedullaOblongata16.1
OccipitalLobe16.85
OlfactoryBulb21.45
Ovary12.2
Pancreas16.25
PancreaticIslet33.15
ParietalLobe18.75
Pituitary22.1
Placenta20.95
Pons14.9
PrefrontalCortex25.6
Prostate22.15
Salivarygland14.7
SkeletalMuscle24.1
Skin14.05
SmoothMuscle22.55
Spinalcord20.65
SubthalamicNucleus15.9
SuperiorCervicalGanglion19.8
TemporalLobe14.05
Testis131.05
TestisGermCell98.75
TestisIntersitial128.75
TestisLeydigCell72
TestisSeminiferousTubule90.2
Thalamus18.3
Thymus21.05
Thyroid25.85
Tongue17.05
Tonsil18.3
Trachea15.65
TrigeminalGanglion16.7
Uterus15.35
UterusCorpus17.85
WholeBlood20.75
Wholebrain15.8
colon19.35
pineal_day26.98
pineal_night35.92
retina23
small_intestine18.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13540_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
Amygdala8.53 ± 0.25
Basal Forebrain8.51 ± 0.26
Basal Part of Pons8.42 ± 0.23
Cerebellar Cortex8.34 ± 0.17
Cerebellar Nuclei8.47 ± 0.19
Claustrum8.76 ± 0.28
Epithalamus8.04 ± 0.33
Frontal Lobe8.42 ± 0.2
Globus Pallidus8.83 ± 0.19
Hypothalamus8.4 ± 0.15
Insula8.43 ± 0.19
Limbic Lobe8.48 ± 0.24
Mesencephalon8.55 ± 0.24
Myelencephalon8.43 ± 0.25
Occipital Lobe8.57 ± 0.22
Parietal Lobe8.46 ± 0.22
Pontine Tegmentum8.46 ± 0.17
Striatum8.3 ± 0.21
Subthalamus8.37 ± 0.08
Temporal Lobe8.44 ± 0.21
Thalamus8.42 ± 0.2
White Matter9.26 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Faf1CBCerebellum3.78
4.55
Faf1CTXCerebral cortex3.47
2.32
Faf1HIPHippocampal region1.79
2
Faf1HPFHippocampal formation2.43
2.19
Faf1HYHypothalamus0.19
0.13
Faf1LSXLateral septal complex0.05
0.03
Faf1MBMidbrain0.68
0.89
Faf1MYMedulla4.61
4.59
Faf1OLFOlfactory bulb4.29
3.22
Faf1PPons2.02
2.52
Faf1PALPallidum0.84
0.59
Faf1RHPRetrohippocampal region3.64
2.57
Faf1sAMYStriatum-like amygdalar nuclei0.74
0.67
Faf1STRStriatum0.7
0.61
Faf1STRdStriatum dorsal region0.99
0.87
Faf1STRvStriatum ventral region0.21
0.25
Faf1THThalamus0.38
0.29
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
FAF1_HUMAN_269 7 269 275 SSPAQTR PRIDE
FAF1_HUMAN_459 21 459 479 SSNEVLNVIQGNTTVDELMMR PRIDE
FAF1_HUMAN_544 11 544 554 KEQEEEREAIR PRIDE
PAp00067046 16 206 221 EYNLNFSGSSTIQEVK 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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