AutismKB 2.0

Annotation Detail for FANCD2


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Basic Information Top
Gene Symbol:FANCD2 ( DKFZp762A223,FA-D2,FA4,FACD,FAD,FAD2,FANCD,FLJ23826 )
Gene Full Name: Fanconi anemia, complementation group D2
Band: 3p25.3
Quick LinksEntrez ID:2177; OMIM: 227646; Uniprot ID:FACD2_HUMAN; ENSEMBL ID: ENSG00000144554; HGNC ID: 3585
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
blastocyst1 / 6231916
fetus18 / 56401231
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult49 / 193912125
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor16 / 26384560
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal43 / 336030712
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
ascites1 / 4001524
bladder0 / 297570 
blood4 / 12347832
bone3 / 7165541
bone marrow1 / 4880120
brain7 / 11009896
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine6 / 23447225
kidney8 / 21177737
larynx0 / 241450 
liver3 / 20774314
lung2 / 3369745
lymph1 / 4427022
lymph node2 / 9161021
mammary gland6 / 15327139
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach9 / 9661993
testis14 / 33044242
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular4 / 5178077
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P345678
  • 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
Amygdala2.12 ± 1.01
Basal Forebrain1.67 ± 0.2
Basal Part of Pons1.35 ± 0.39
Cerebellar Cortex1.5 ± 0.73
Cerebellar Nuclei1.96 ± 0.74
Claustrum2.59 ± 0.91
Epithalamus1.55 ± 1.07
Frontal Lobe1.49 ± 0.56
Globus Pallidus2.29 ± 0.34
Hypothalamus1.77 ± 0.69
Insula1.53 ± 0.49
Limbic Lobe1.68 ± 0.62
Mesencephalon1.78 ± 0.66
Myelencephalon1.69 ± 0.65
Occipital Lobe1.72 ± 0.6
Parietal Lobe1.76 ± 0.9
Pontine Tegmentum1.76 ± 0.73
Striatum1.79 ± 0.47
Subthalamus1.8 ± 0.63
Temporal Lobe1.56 ± 0.65
Thalamus1.62 ± 0.56
White Matter2.24 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fancd2CBCerebellum0.7
0.81
Fancd2CTXCerebral cortex3.5
2.83
Fancd2HIPHippocampal region3.27
3.58
Fancd2HPFHippocampal formation4.76
4.21
Fancd2HYHypothalamus0.42
0.39
Fancd2LSXLateral septal complex0.62
0.87
Fancd2MBMidbrain0.34
0.52
Fancd2MYMedulla0.46
0.75
Fancd2OLFOlfactory bulb1.63
2.14
Fancd2PPons0.16
0.19
Fancd2PALPallidum0.72
0.58
Fancd2RHPRetrohippocampal region7.07
5.01
Fancd2sAMYStriatum-like amygdalar nuclei0.52
0.41
Fancd2STRStriatum1.08
0.92
Fancd2STRdStriatum dorsal region1.4
1.19
Fancd2STRvStriatum ventral region0.42
0.26
Fancd2THThalamus0.43
0.48
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00079477 13 914 926 TSLLLHNSHAFFR 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