AutismKB 2.0

Annotation Detail for FANCA


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Basic Information Top
Gene Symbol:FANCA ( FA,FA-H,FA1,FAA,FACA,FAH,FANCH,MGC75158 )
Gene Full Name: Fanconi anemia, complementation group A
Band: 16q24.3
Quick LinksEntrez ID:2175; OMIM: 607139; Uniprot ID:FANCA_HUMAN; ENSEMBL ID: ENSG00000187741; HGNC ID: 3582
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
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult58 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor9 / 26384534
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal106 / 336030731
ovarian tumor1 / 7668213
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites4 / 4001599
bladder1 / 2975733
blood4 / 12347832
bone4 / 7165555
bone marrow0 / 488010 
brain45 / 110098940
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye6 / 21105428
heart1 / 8962611
intestine17 / 23447272
kidney4 / 21177718
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node2 / 9161021
mammary gland3 / 15327119
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen4 / 5395274
stomach3 / 9661931
testis13 / 33044239
thymus3 / 8113136
thyroid1 / 4747321
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord0 / 136800 
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203805_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts21.45
Adipocyte3.6
AdrenalCortex3.75
Adrenalgland3.05
Amygdala3.85
Appendix3.65
AtrioventricularNode2.75
BDCA4+_DentriticCells4.15
Bonemarrow3.8
BronchialEpithelialCells3.6
CD105+_Endothelial11.55
CD14+_Monocytes6.15
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid5.5
CD34+6.45
CD4+_Tcells4.05
CD56+_NKCells4.8
CD71+_EarlyErythroid3.95
CD8+_Tcells3.6
CardiacMyocytes4.55
Caudatenucleus3.25
Cerebellum2.95
CerebellumPeduncles4.1
CiliaryGanglion2.55
CingulateCortex3.75
Colorectaladenocarcinoma6
DorsalRootGanglion2.8
FetalThyroid3.55
Fetalbrain3.7
Fetalliver3.15
Fetallung3.05
GlobusPallidus2.65
Heart4.6
Hypothalamus4
Kidney2.9
Leukemia_chronicMyelogenousK-56285.3
Leukemia_promyelocytic-HL-6028
Leukemialymphoblastic(MOLT-4)19
Liver4.85
Lung4.05
Lymphnode5.45
Lymphoma_burkitts(Daudi)69.15
Lymphoma_burkitts(Raji)8.65
MedullaOblongata3.35
OccipitalLobe3.25
OlfactoryBulb2.85
Ovary2.4
Pancreas3
PancreaticIslet3.9
ParietalLobe3.8
Pituitary4.25
Placenta3.8
Pons3.4
PrefrontalCortex4.55
Prostate4.3
Salivarygland2.9
SkeletalMuscle4.05
Skin2.8
SmoothMuscle4.25
Spinalcord3.9
SubthalamicNucleus3.3
SuperiorCervicalGanglion4
TemporalLobe3.3
Testis4.1
TestisGermCell3.25
TestisIntersitial3.1
TestisLeydigCell3.65
TestisSeminiferousTubule4.7
Thalamus3.7
Thymus2.95
Thyroid4.65
Tongue3.55
Tonsil3.6
Trachea3
TrigeminalGanglion3.6
Uterus3.05
UterusCorpus3.25
WholeBlood4.1
Wholebrain3.05
colon3.7
pineal_day4.58
pineal_night4.48
retina4.375
small_intestine3.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P133671
  • 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
Amygdala6.3 ± 0.37
Basal Forebrain6.66 ± 0.27
Basal Part of Pons6.92 ± 0.35
Cerebellar Cortex7.07 ± 0.27
Cerebellar Nuclei6.98 ± 0.42
Claustrum6.28 ± 0.62
Epithalamus7.01 ± 0.4
Frontal Lobe6.71 ± 0.44
Globus Pallidus7.02 ± 0.31
Hypothalamus6.48 ± 0.51
Insula6.78 ± 0.28
Limbic Lobe6.59 ± 0.36
Mesencephalon6.7 ± 0.46
Myelencephalon6.73 ± 0.43
Occipital Lobe6.87 ± 0.44
Parietal Lobe6.67 ± 0.42
Pontine Tegmentum6.7 ± 0.39
Striatum6.81 ± 0.41
Subthalamus7.17 ± 0.5
Temporal Lobe6.67 ± 0.35
Thalamus6.78 ± 0.35
White Matter8.24 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
FancaSTRdStriatum dorsal region0.18
0.3
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00495568 30 796 825 SALPEVDVGPPAPGAGLPVPALFDSLLTCR 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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