AutismKB 2.0

Annotation Detail for RIBC2


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Basic Information Top
Gene Symbol:RIBC2 ( C22orf11 )
Gene Full Name: RIB43A domain with coiled-coils 2
Band: 22q13.31
Quick LinksEntrez ID:26150; OMIM: NA; Uniprot ID:RIBC2_HUMAN; ENSEMBL ID: ENSG00000128408; HGNC ID: 13241
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 body0 / 707610 
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult8 / 19391214
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 tumor3 / 3436687
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal25 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain8 / 11009897
cervix3 / 4817162
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung12 / 33697435
lymph0 / 442700 
lymph node3 / 9161032
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206526_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.65
Adipocyte4.65
AdrenalCortex5.45
Adrenalgland4.05
Amygdala4.75
Appendix4.8
AtrioventricularNode3.95
BDCA4+_DentriticCells4.8
Bonemarrow5.1
BronchialEpithelialCells4.6
CD105+_Endothelial4.6
CD14+_Monocytes5
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid5.95
CD34+5.7
CD4+_Tcells4.85
CD56+_NKCells5.3
CD71+_EarlyErythroid4.45
CD8+_Tcells4.35
CardiacMyocytes6.45
Caudatenucleus4.3
Cerebellum3.9
CerebellumPeduncles5.4
CiliaryGanglion3.55
CingulateCortex4.95
Colorectaladenocarcinoma4.65
DorsalRootGanglion3.85
FetalThyroid5.05
Fetalbrain4.7
Fetalliver4.25
Fetallung3.7
GlobusPallidus3.55
Heart6.55
Hypothalamus5.35
Kidney4.15
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.1
Leukemialymphoblastic(MOLT-4)3.7
Liver7.45
Lung5.1
Lymphnode4.2
Lymphoma_burkitts(Daudi)6.1
Lymphoma_burkitts(Raji)7.3
MedullaOblongata6.35
OccipitalLobe4.2
OlfactoryBulb3.7
Ovary3.2
Pancreas3.85
PancreaticIslet5.1
ParietalLobe5.55
Pituitary5.7
Placenta4.8
Pons5.2
PrefrontalCortex5.75
Prostate5.55
Salivarygland3.9
SkeletalMuscle9.95
Skin3.75
SmoothMuscle5.3
Spinalcord5.05
SubthalamicNucleus4.9
SuperiorCervicalGanglion6
TemporalLobe4.4
Testis16.55
TestisGermCell10.3
TestisIntersitial26.9
TestisLeydigCell16.45
TestisSeminiferousTubule15.9
Thalamus5
Thymus3.55
Thyroid5.85
Tongue5.7
Tonsil4.7
Trachea4.2
TrigeminalGanglion4.9
Uterus3.8
UterusCorpus5.95
WholeBlood5.15
Wholebrain4
colon4.7
pineal_day5.8
pineal_night5.66
retina5.65
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10538_PI416261804
  • 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
Amygdala2.54 ± 1.2
Basal Forebrain1.98 ± 0.29
Basal Part of Pons2.04 ± 0.75
Cerebellar Cortex1.92 ± 0.89
Cerebellar Nuclei2.31 ± 1.02
Claustrum3.19 ± 1.18
Epithalamus3.67 ± 1.37
Frontal Lobe2.12 ± 1.03
Globus Pallidus2.79 ± 0.93
Hypothalamus2.21 ± 0.8
Insula2.13 ± 0.74
Limbic Lobe2.14 ± 0.96
Mesencephalon2.33 ± 0.83
Myelencephalon2.27 ± 0.96
Occipital Lobe2.23 ± 0.72
Parietal Lobe2.21 ± 0.96
Pontine Tegmentum2.29 ± 1.11
Striatum2.55 ± 0.91
Subthalamus2.06 ± 0.72
Temporal Lobe2.14 ± 0.99
Thalamus2.07 ± 0.77
White Matter2.12 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ribc2CBCerebellum0
0
Ribc2CTXCerebral cortex0
0
Ribc2HIPHippocampal region0
0
Ribc2HPFHippocampal formation0
0
Ribc2HYHypothalamus0
0
Ribc2LSXLateral septal complex0
0
Ribc2MBMidbrain0
0
Ribc2MYMedulla0
0
Ribc2OLFOlfactory bulb0
0
Ribc2PPons0
0
Ribc2PALPallidum0
0
Ribc2RHPRetrohippocampal region0
0
Ribc2sAMYStriatum-like amygdalar nuclei0
0
Ribc2STRStriatum0
0
Ribc2STRdStriatum dorsal region0
0
Ribc2STRvStriatum ventral region0
0
Ribc2THThalamus0
0
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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