AutismKB 2.0

Annotation Detail for FAN1


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Basic Information Top
Gene Symbol:FAN1 ( DKFZp451H236,DKFZp686K16147,KIAA1018,MTMR15 )
Gene Full Name: FANCD2/FANCI-associated nuclease 1
Band: 15q13.3
Quick LinksEntrez ID:22909; OMIM: 613534; Uniprot ID:FAN1_HUMAN; ENSEMBL ID: ENSG00000198690; HGNC ID: 29170
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
blastocyst6 / 6231996
fetus24 / 56401242
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult64 / 193912133
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal109 / 336030732
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain26 / 110098923
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye10 / 21105447
heart2 / 8962622
intestine11 / 23447246
kidney14 / 21177766
larynx0 / 241450 
liver7 / 20774333
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth1 / 6705214
muscle4 / 10771537
nerve3 / 15768190
ovary2 / 10205119
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate6 / 18934531
salivary gland1 / 2015549
skin6 / 21057428
spleen0 / 539520 
stomach7 / 9661972
testis8 / 33044224
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203678_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.35
Adipocyte5.6
AdrenalCortex5.8
Adrenalgland4.75
Amygdala6.8
Appendix5.75
AtrioventricularNode4.9
BDCA4+_DentriticCells9.75
Bonemarrow5.55
BronchialEpithelialCells5.55
CD105+_Endothelial16.2
CD14+_Monocytes6.15
CD19+_BCells(neg._sel.)7
CD33+_Myeloid7.35
CD34+47.35
CD4+_Tcells29.25
CD56+_NKCells7.8
CD71+_EarlyErythroid5.25
CD8+_Tcells19.45
CardiacMyocytes7
Caudatenucleus5.25
Cerebellum4.7
CerebellumPeduncles6.6
CiliaryGanglion4
CingulateCortex6.05
Colorectaladenocarcinoma5.8
DorsalRootGanglion7.3
FetalThyroid5.65
Fetalbrain9.8
Fetalliver5
Fetallung4.75
GlobusPallidus4.15
Heart7.1
Hypothalamus17.35
Kidney4.6
Leukemia_chronicMyelogenousK-5625.25
Leukemia_promyelocytic-HL-605.05
Leukemialymphoblastic(MOLT-4)16.75
Liver7.4
Lung6.05
Lymphnode9.5
Lymphoma_burkitts(Daudi)7.2
Lymphoma_burkitts(Raji)9.6
MedullaOblongata5.6
OccipitalLobe5.45
OlfactoryBulb9.8
Ovary3.6
Pancreas4.25
PancreaticIslet5.75
ParietalLobe6.55
Pituitary6.85
Placenta5
Pons5.35
PrefrontalCortex18.05
Prostate8.9
Salivarygland6.45
SkeletalMuscle6.4
Skin4.55
SmoothMuscle6.5
Spinalcord7.9
SubthalamicNucleus6.2
SuperiorCervicalGanglion6.5
TemporalLobe5.15
Testis4.95
TestisGermCell4.8
TestisIntersitial5.05
TestisLeydigCell5.6
TestisSeminiferousTubule5
Thalamus9.85
Thymus4.55
Thyroid11.1
Tongue5.5
Tonsil5.3
Trachea4.75
TrigeminalGanglion5.55
Uterus9.2
UterusCorpus5.05
WholeBlood6.3
Wholebrain6.3
colon5.75
pineal_day13.6
pineal_night10.76
retina10.6
small_intestine5.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13651_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
Amygdala6.67 ± 0.43
Basal Forebrain6.68 ± 0.28
Basal Part of Pons6.34 ± 0.26
Cerebellar Cortex6.41 ± 0.23
Cerebellar Nuclei6.72 ± 0.28
Claustrum6.77 ± 0.55
Epithalamus6.54 ± 0.17
Frontal Lobe6.4 ± 0.31
Globus Pallidus7.28 ± 0.16
Hypothalamus6.47 ± 0.22
Insula6.29 ± 0.44
Limbic Lobe6.66 ± 0.44
Mesencephalon6.65 ± 0.33
Myelencephalon6.59 ± 0.37
Occipital Lobe6.92 ± 0.38
Parietal Lobe6.55 ± 0.32
Pontine Tegmentum6.59 ± 0.32
Striatum6.72 ± 0.33
Subthalamus6.36 ± 0.43
Temporal Lobe6.47 ± 0.29
Thalamus6.52 ± 0.36
White Matter7.62 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
6030441H18RikCBCerebellum8.74
8.69
6030441H18RikCTXCerebral cortex7.89
5.54
6030441H18RikHIPHippocampal region11.55
10.68
6030441H18RikHPFHippocampal formation9.42
8.18
6030441H18RikHYHypothalamus3.11
2.53
6030441H18RikLSXLateral septal complex0.7
0.47
6030441H18RikMBMidbrain4.89
4.3
6030441H18RikMYMedulla5.93
6.26
6030441H18RikOLFOlfactory bulb7.54
5.31
6030441H18RikPPons5.28
4.76
6030441H18RikPALPallidum5.95
5.2
6030441H18RikRHPRetrohippocampal region6
4.73
6030441H18RiksAMYStriatum-like amygdalar nuclei1.15
0.91
6030441H18RikSTRStriatum4.88
3.56
6030441H18RikSTRdStriatum dorsal region4.74
3.58
6030441H18RikSTRvStriatum ventral region9.2
6
6030441H18RikTHThalamus8.1
6.19
Peptide Top

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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