AutismKB 2.0

Annotation Detail for R3HCC1


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Basic Information Top
Gene Symbol:R3HCC1 ( DKFZp564N123 )
Gene Full Name: R3H domain and coiled-coil containing 1
Band: 8p21.3
Quick LinksEntrez ID:203069; OMIM: NA; Uniprot ID:R3HC1_HUMAN; ENSEMBL ID: ENSG00000104679; HGNC ID: 27329
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 body3 / 7076142
blastocyst4 / 6231964
fetus17 / 56401230
neonate0 / 310970 
infant2 / 2362084
juvenile8 / 55556143
adult56 / 193912128
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma6 / 10688356
head and neck tumor1 / 1363027
kidney tumor4 / 6895958
leukemia15 / 95842156
liver tumor0 / 963590 
lung tumor10 / 10312796
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal90 / 336030726
ovarian tumor4 / 7668252
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS24 / 125680190
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood15 / 123478121
bone4 / 7165555
bone marrow0 / 488010 
brain32 / 110098929
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye13 / 21105461
heart4 / 8962644
intestine5 / 23447221
kidney10 / 21177747
larynx0 / 241450 
liver0 / 2077430 
lung15 / 33697444
lymph1 / 4427022
lymph node2 / 9161021
mammary gland3 / 15327119
mouth0 / 670520 
muscle9 / 10771583
nerve0 / 157680 
ovary8 / 10205178
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland3 / 20155148
skin6 / 21057428
spleen1 / 5395218
stomach1 / 9661910
testis2 / 3304426
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212866_at
Cell line Expression level Expression bar
721_B_lymphoblasts21.6
Adipocyte8.25
AdrenalCortex8.95
Adrenalgland7.95
Amygdala10.2
Appendix9.2
AtrioventricularNode6.75
BDCA4+_DentriticCells11.3
Bonemarrow8.8
BronchialEpithelialCells9.75
CD105+_Endothelial8.9
CD14+_Monocytes10.2
CD19+_BCells(neg._sel.)12.6
CD33+_Myeloid11.8
CD34+12
CD4+_Tcells9.65
CD56+_NKCells39.9
CD71+_EarlyErythroid8.55
CD8+_Tcells8.95
CardiacMyocytes12.4
Caudatenucleus8.35
Cerebellum9.4
CerebellumPeduncles11.3
CiliaryGanglion6.05
CingulateCortex9.5
Colorectaladenocarcinoma8.95
DorsalRootGanglion6.8
FetalThyroid8.75
Fetalbrain11.2
Fetalliver7.3
Fetallung7.35
GlobusPallidus6.65
Heart39.85
Hypothalamus14.9
Kidney8.35
Leukemia_chronicMyelogenousK-5627.9
Leukemia_promyelocytic-HL-607.65
Leukemialymphoblastic(MOLT-4)9.05
Liver22.5
Lung41.85
Lymphnode7.5
Lymphoma_burkitts(Daudi)11.75
Lymphoma_burkitts(Raji)11.9
MedullaOblongata8.2
OccipitalLobe8
OlfactoryBulb7.15
Ovary6
Pancreas7.15
PancreaticIslet9.8
ParietalLobe9.95
Pituitary10.55
Placenta9.15
Pons8.45
PrefrontalCortex13.25
Prostate17.65
Salivarygland7.4
SkeletalMuscle10.3
Skin6.6
SmoothMuscle9.55
Spinalcord10.55
SubthalamicNucleus9.7
SuperiorCervicalGanglion10.15
TemporalLobe8.25
Testis29.85
TestisGermCell7.85
TestisIntersitial9.6
TestisLeydigCell9.2
TestisSeminiferousTubule8
Thalamus21.75
Thymus7.65
Thyroid29.35
Tongue9.15
Tonsil8.35
Trachea7.15
TrigeminalGanglion9.1
Uterus8.8
UterusCorpus8.15
WholeBlood9.8
Wholebrain48.55
colon9.35
pineal_day46.68
pineal_night30.44
retina19.425
small_intestine8.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P421221
  • 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
Amygdala7.64 ± 0.67
Basal Forebrain7.64 ± 0.23
Basal Part of Pons8.27 ± 0.13
Cerebellar Cortex7.69 ± 0.25
Cerebellar Nuclei8.04 ± 0.17
Claustrum7.33 ± 0.35
Epithalamus7.51 ± 0.28
Frontal Lobe7.78 ± 0.36
Globus Pallidus8.11 ± 0.23
Hypothalamus7.36 ± 0.24
Insula7.73 ± 0.29
Limbic Lobe7.66 ± 0.3
Mesencephalon7.63 ± 0.34
Myelencephalon7.74 ± 0.34
Occipital Lobe7.57 ± 0.29
Parietal Lobe7.64 ± 0.29
Pontine Tegmentum7.58 ± 0.26
Striatum7.45 ± 0.32
Subthalamus8.04 ± 0.64
Temporal Lobe7.78 ± 0.26
Thalamus7.84 ± 0.26
White Matter8.87 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
R3hcc1CBCerebellum40.62
54.66
R3hcc1CTXCerebral cortex81.1
61.78
R3hcc1HIPHippocampal region47.84
58.76
R3hcc1HPFHippocampal formation66.12
69.52
R3hcc1HYHypothalamus37.54
29.02
R3hcc1LSXLateral septal complex80.65
59.51
R3hcc1MBMidbrain41.71
37.45
R3hcc1MYMedulla47.87
55.98
R3hcc1OLFOlfactory bulb68.93
63.94
R3hcc1PPons41.98
43.98
R3hcc1PALPallidum38.21
33.58
R3hcc1RHPRetrohippocampal region100
87.83
R3hcc1sAMYStriatum-like amygdalar nuclei30.25
21.79
R3hcc1STRStriatum44.23
31.01
R3hcc1STRdStriatum dorsal region41.65
29.27
R3hcc1STRvStriatum ventral region44.25
29.44
R3hcc1THThalamus59.35
49.81
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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