AutismKB 2.0

Annotation Detail for RC3H1


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Basic Information Top
Gene Symbol:RC3H1 ( KIAA2025,RNF198,ROQUIN )
Gene Full Name: ring finger and CCCH-type domains 1
Band: 1q25.1
Quick LinksEntrez ID:149041; OMIM: 609424; Uniprot ID:RC3H1_HUMAN; ENSEMBL ID: ENSG00000135870; HGNC ID: 29434
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 body5 / 7076170
blastocyst2 / 6231932
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult75 / 193912138
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal118 / 336030735
ovarian tumor4 / 7668252
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor3 / 12494924
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 tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone0 / 716550 
bone marrow1 / 4880120
brain26 / 110098923
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine4 / 23447217
kidney8 / 21177737
larynx1 / 2414541
liver4 / 20774319
lung10 / 33697429
lymph0 / 442700 
lymph node8 / 9161087
mammary gland11 / 15327171
mouth5 / 6705274
muscle10 / 10771592
nerve0 / 157680 
ovary5 / 10205148
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta12 / 28082542
prostate5 / 18934526
salivary gland0 / 201550 
skin5 / 21057423
spleen1 / 5395218
stomach2 / 9661920
testis6 / 33044218
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus13 / 23287855
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P96807
  • 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
Amygdala7.24 ± 0.41
Basal Forebrain7.62 ± 0.22
Basal Part of Pons7.89 ± 0.21
Cerebellar Cortex8.07 ± 0.22
Cerebellar Nuclei7.9 ± 0.23
Claustrum7.23 ± 0.64
Epithalamus7.66 ± 0.29
Frontal Lobe7.77 ± 0.27
Globus Pallidus7.3 ± 0.17
Hypothalamus7.93 ± 0.29
Insula7.62 ± 0.28
Limbic Lobe7.43 ± 0.44
Mesencephalon7.57 ± 0.42
Myelencephalon7.62 ± 0.44
Occipital Lobe7.38 ± 0.46
Parietal Lobe7.67 ± 0.36
Pontine Tegmentum7.65 ± 0.34
Striatum7.14 ± 0.31
Subthalamus7.87 ± 0.08
Temporal Lobe7.67 ± 0.34
Thalamus7.77 ± 0.3
White Matter7.95 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rc3h1CBCerebellum8.36
9.87
Rc3h1CTXCerebral cortex5.95
4.53
Rc3h1HIPHippocampal region9.02
8.7
Rc3h1HPFHippocampal formation7.5
6.62
Rc3h1HYHypothalamus1.48
1.2
Rc3h1LSXLateral septal complex1.59
1.07
Rc3h1MBMidbrain3.15
3.72
Rc3h1MYMedulla5.14
5.58
Rc3h1OLFOlfactory bulb10.73
7.35
Rc3h1PPons3.6
4.32
Rc3h1PALPallidum2.79
2.79
Rc3h1RHPRetrohippocampal region4.79
3.6
Rc3h1sAMYStriatum-like amygdalar nuclei1.71
1.26
Rc3h1STRStriatum1.76
1.49
Rc3h1STRdStriatum dorsal region1.65
1.56
Rc3h1STRvStriatum ventral region2.37
1.58
Rc3h1THThalamus4.43
3.61
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