AutismKB 2.0

Annotation Detail for RB1CC1


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Basic Information Top
Gene Symbol:RB1CC1 ( CC1,FIP200 )
Gene Full Name: RB1-inducible coiled-coil 1
Band: 8q11.23
Quick LinksEntrez ID:9821; OMIM: 606837; Uniprot ID:RBCC1_HUMAN; ENSEMBL ID: ENSG00000023287; HGNC ID: 15574
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 body8 / 70761113
blastocyst7 / 62319112
fetus53 / 56401293
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult136 / 193912170
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) tumor9 / 9417895
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor26 / 26384598
glioma3 / 10688328
head and neck tumor20 / 136302146
kidney tumor8 / 68959116
leukemia10 / 95842104
liver tumor8 / 9635983
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal270 / 336030780
ovarian tumor4 / 7668252
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor4 / 9025744
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
blood6 / 12347848
bone2 / 7165527
bone marrow7 / 48801143
brain95 / 110098986
cervix0 / 481710 
connective tissue15 / 149255100
ear2 / 16212123
embryonic tissue17 / 21572278
esophagus1 / 2020949
eye8 / 21105437
heart5 / 8962655
intestine6 / 23447225
kidney17 / 21177780
larynx0 / 241450 
liver15 / 20774372
lung11 / 33697432
lymph0 / 442700 
lymph node3 / 9161032
mammary gland27 / 153271176
mouth17 / 67052253
muscle9 / 10771583
nerve1 / 1576863
ovary4 / 10205139
pancreas11 / 21481251
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta18 / 28082564
prostate7 / 18934536
salivary gland2 / 2015599
skin13 / 21057461
spleen5 / 5395292
stomach4 / 9661941
testis45 / 330442136
thymus6 / 8113173
thyroid4 / 4747384
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus27 / 232878115
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202034_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts39.35
Adipocyte22.8
AdrenalCortex44.8
Adrenalgland17.6
Amygdala165.65
Appendix46.3
AtrioventricularNode46.7
BDCA4+_DentriticCells33.6
Bonemarrow30.25
BronchialEpithelialCells16.3
CD105+_Endothelial68.5
CD14+_Monocytes46.55
CD19+_BCells(neg._sel.)58.45
CD33+_Myeloid88.15
CD34+50.7
CD4+_Tcells38.45
CD56+_NKCells63
CD71+_EarlyErythroid102.35
CD8+_Tcells48.35
CardiacMyocytes79.5
Caudatenucleus22.15
Cerebellum21.85
CerebellumPeduncles38.25
CiliaryGanglion32.1
CingulateCortex42.15
Colorectaladenocarcinoma61
DorsalRootGanglion24.2
FetalThyroid26.95
Fetalbrain56.15
Fetalliver25.25
Fetallung23.85
GlobusPallidus33.25
Heart55.1
Hypothalamus38
Kidney22.9
Leukemia_chronicMyelogenousK-56223.55
Leukemia_promyelocytic-HL-6035.25
Leukemialymphoblastic(MOLT-4)18.4
Liver26.35
Lung20.35
Lymphnode16.65
Lymphoma_burkitts(Daudi)34.45
Lymphoma_burkitts(Raji)63.85
MedullaOblongata33.15
OccipitalLobe41.6
OlfactoryBulb18.85
Ovary26.85
Pancreas26.25
PancreaticIslet28.55
ParietalLobe31.35
Pituitary30.8
Placenta16.6
Pons28.9
PrefrontalCortex82.65
Prostate37
Salivarygland24.95
SkeletalMuscle67.75
Skin37.4
SmoothMuscle28.85
Spinalcord27.7
SubthalamicNucleus27.85
SuperiorCervicalGanglion59.55
TemporalLobe28.15
Testis17.4
TestisGermCell26.65
TestisIntersitial34.2
TestisLeydigCell30.5
TestisSeminiferousTubule23.2
Thalamus33.75
Thymus12.15
Thyroid72.85
Tongue37.45
Tonsil28
Trachea18.4
TrigeminalGanglion62.8
Uterus54.55
UterusCorpus36.3
WholeBlood44.6
Wholebrain20.1
colon26.3
pineal_day60
pineal_night87.8
retina28.9
small_intestine22.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P9056
  • 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
Amygdala9.15 ± 0.39
Basal Forebrain9.02 ± 0.18
Basal Part of Pons9.26 ± 0.32
Cerebellar Cortex9 ± 0.19
Cerebellar Nuclei8.95 ± 0.23
Claustrum9.15 ± 0.4
Epithalamus8.78 ± 0.2
Frontal Lobe9.16 ± 0.32
Globus Pallidus8.73 ± 0.43
Hypothalamus9.06 ± 0.36
Insula9.2 ± 0.12
Limbic Lobe9.07 ± 0.32
Mesencephalon9.13 ± 0.35
Myelencephalon9.09 ± 0.32
Occipital Lobe9.28 ± 0.27
Parietal Lobe9.26 ± 0.29
Pontine Tegmentum9.14 ± 0.33
Striatum8.68 ± 0.4
Subthalamus9.36 ± 0.22
Temporal Lobe9.23 ± 0.22
Thalamus9.25 ± 0.36
White Matter8.32 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rb1cc1CBCerebellum1.12
1.5
Rb1cc1CTXCerebral cortex4.46
2.45
Rb1cc1HIPHippocampal region5.23
4.41
Rb1cc1HPFHippocampal formation3.92
2.78
Rb1cc1HYHypothalamus0.2
0.16
Rb1cc1LSXLateral septal complex0.4
0.24
Rb1cc1MBMidbrain0.92
0.88
Rb1cc1MYMedulla2.76
2.7
Rb1cc1OLFOlfactory bulb2.27
2.04
Rb1cc1PPons2
1.77
Rb1cc1PALPallidum0.43
0.27
Rb1cc1RHPRetrohippocampal region2.22
0.97
Rb1cc1sAMYStriatum-like amygdalar nuclei0.35
0.64
Rb1cc1STRStriatum0.43
0.29
Rb1cc1STRdStriatum dorsal region0.44
0.27
Rb1cc1STRvStriatum ventral region0.46
0.26
Rb1cc1THThalamus1.57
1.23
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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