AutismKB 2.0

Annotation Detail for BRCA2


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Basic Information Top
Gene Symbol:BRCA2 ( BRCC2,BROVCA2,FACD,FAD,FAD1,FANCB,FANCD,FANCD1,GLM3,PNCA2 )
Gene Full Name: breast cancer 2, early onset
Band: 13q13.1
Quick LinksEntrez ID:675; OMIM: 600185; Uniprot ID:BRCA2_HUMAN; ENSEMBL ID: ENSG00000139618; HGNC ID: 1101
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
blastocyst0 / 623190 
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult14 / 19391217
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor7 / 26384526
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal33 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
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
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain2 / 11009891
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine6 / 23447225
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung2 / 3369745
lymph0 / 442700 
lymph node14 / 91610152
mammary gland4 / 15327126
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis11 / 33044233
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214727_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.3
Adipocyte6.75
AdrenalCortex8
Adrenalgland6.15
Amygdala7.05
Appendix8.55
AtrioventricularNode7.45
BDCA4+_DentriticCells7.15
Bonemarrow7.45
BronchialEpithelialCells6.75
CD105+_Endothelial11.7
CD14+_Monocytes7.55
CD19+_BCells(neg._sel.)7.2
CD33+_Myeloid8.9
CD34+9.2
CD4+_Tcells6.95
CD56+_NKCells8.2
CD71+_EarlyErythroid7.35
CD8+_Tcells6.4
CardiacMyocytes11.5
Caudatenucleus6.35
Cerebellum5.7
CerebellumPeduncles8.35
CiliaryGanglion8.7
CingulateCortex7.15
Colorectaladenocarcinoma7.1
DorsalRootGanglion7.4
FetalThyroid6.85
Fetalbrain6.7
Fetalliver6.3
Fetallung5.6
GlobusPallidus5.55
Heart10.9
Hypothalamus7.2
Kidney6.4
Leukemia_chronicMyelogenousK-5626.25
Leukemia_promyelocytic-HL-606.25
Leukemialymphoblastic(MOLT-4)9.65
Liver10.35
Lung7.6
Lymphnode5.75
Lymphoma_burkitts(Daudi)12.1
Lymphoma_burkitts(Raji)10.7
MedullaOblongata6.35
OccipitalLobe6.15
OlfactoryBulb5.4
Ovary5.75
Pancreas5.75
PancreaticIslet7.5
ParietalLobe7.6
Pituitary8
Placenta7
Pons6.95
PrefrontalCortex8.1
Prostate8
Salivarygland5.7
SkeletalMuscle9.9
Skin9.1
SmoothMuscle7.95
Spinalcord7.3
SubthalamicNucleus6.95
SuperiorCervicalGanglion10.6
TemporalLobe6.5
Testis6
TestisGermCell5.6
TestisIntersitial6.2
TestisLeydigCell7.3
TestisSeminiferousTubule6
Thalamus7.2
Thymus5.35
Thyroid8.75
Tongue7.4
Tonsil7.3
Trachea5.85
TrigeminalGanglion8.3
Uterus5.65
UterusCorpus6.45
WholeBlood7.6
Wholebrain5.45
colon6.85
pineal_day8.52
pineal_night8.3
retina8.35
small_intestine6.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P99452
  • 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
Amygdala2.19 ± 0.99
Basal Forebrain1.77 ± 0.2
Basal Part of Pons1.43 ± 0.34
Cerebellar Cortex1.6 ± 0.67
Cerebellar Nuclei2.04 ± 0.71
Claustrum2.54 ± 0.74
Epithalamus1.46 ± 0.7
Frontal Lobe1.63 ± 0.66
Globus Pallidus2.3 ± 0.37
Hypothalamus1.82 ± 0.63
Insula1.64 ± 0.53
Limbic Lobe1.75 ± 0.61
Mesencephalon1.89 ± 0.65
Myelencephalon1.77 ± 0.64
Occipital Lobe1.8 ± 0.58
Parietal Lobe1.73 ± 0.59
Pontine Tegmentum1.83 ± 0.62
Striatum1.94 ± 0.55
Subthalamus1.94 ± 0.67
Temporal Lobe1.62 ± 0.58
Thalamus1.74 ± 0.56
White Matter2.32 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Brca2CBCerebellum1.06
1.83
Brca2CTXCerebral cortex1.18
0.86
Brca2HIPHippocampal region1.38
1.81
Brca2HPFHippocampal formation1.33
1.19
Brca2HYHypothalamus0.42
0.24
Brca2LSXLateral septal complex0.22
0.1
Brca2MBMidbrain1.51
0.83
Brca2MYMedulla3.41
2.01
Brca2OLFOlfactory bulb3.03
1.35
Brca2PPons4.84
2.58
Brca2PALPallidum0.43
0.26
Brca2RHPRetrohippocampal region1.31
0.49
Brca2sAMYStriatum-like amygdalar nuclei0.55
0.6
Brca2STRStriatum0.45
0.52
Brca2STRdStriatum dorsal region0.39
0.63
Brca2STRvStriatum ventral region0.77
0.36
Brca2THThalamus0.57
0.35
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01039756 11 275 285 KVNSCKDHIGK 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