AutismKB 2.0

Annotation Detail for RHBDF2


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Basic Information Top
Gene Symbol:RHBDF2 ( FLJ22341,RHBDL5,RHBDL6 )
Gene Full Name: rhomboid 5 homolog 2 (Drosophila)
Band: 17q25.3
Quick LinksEntrez ID:79651; OMIM: NA; Uniprot ID:RHDF2_HUMAN; ENSEMBL ID: ENSG00000129667; HGNC ID: 20788
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
blastocyst1 / 6231916
fetus9 / 56401215
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult44 / 193912122
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor5 / 26384518
glioma4 / 10688337
head and neck tumor13 / 13630295
kidney tumor1 / 6895914
leukemia10 / 95842104
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia14 / 97250143
normal63 / 336030718
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor7 / 9025777
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 
blood1 / 1234788
bone1 / 7165513
bone marrow1 / 4880120
brain24 / 110098921
cervix0 / 481710 
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye2 / 2110549
heart3 / 8962633
intestine3 / 23447212
kidney2 / 2117779
larynx0 / 241450 
liver1 / 2077434
lung13 / 33697438
lymph0 / 442700 
lymph node10 / 91610109
mammary gland8 / 15327152
mouth13 / 67052193
muscle0 / 1077150 
nerve2 / 15768126
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate1 / 1893455
salivary gland0 / 201550 
skin3 / 21057414
spleen2 / 5395237
stomach4 / 9661941
testis2 / 3304426
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219202_at
Cell line Expression level Expression bar
721_B_lymphoblasts46.85
Adipocyte8.4
AdrenalCortex10.25
Adrenalgland9.85
Amygdala11.8
Appendix10.4
AtrioventricularNode7.5
BDCA4+_DentriticCells268.05
Bonemarrow11
BronchialEpithelialCells13.6
CD105+_Endothelial10.75
CD14+_Monocytes244.4
CD19+_BCells(neg._sel.)267.25
CD33+_Myeloid228.75
CD34+12.2
CD4+_Tcells44.35
CD56+_NKCells224.35
CD71+_EarlyErythroid8.7
CD8+_Tcells58.9
CardiacMyocytes12.9
Caudatenucleus10.05
Cerebellum7.2
CerebellumPeduncles11.9
CiliaryGanglion6.45
CingulateCortex9.15
Colorectaladenocarcinoma83.15
DorsalRootGanglion8.15
FetalThyroid9.85
Fetalbrain7.35
Fetalliver7
Fetallung10.65
GlobusPallidus6.85
Heart24.25
Hypothalamus12.65
Kidney7.4
Leukemia_chronicMyelogenousK-5629.2
Leukemia_promyelocytic-HL-609.4
Leukemialymphoblastic(MOLT-4)7.3
Liver12.4
Lung32.1
Lymphnode49.9
Lymphoma_burkitts(Daudi)16.25
Lymphoma_burkitts(Raji)110.75
MedullaOblongata8.05
OccipitalLobe9.3
OlfactoryBulb16.2
Ovary7.4
Pancreas10.25
PancreaticIslet13
ParietalLobe10.1
Pituitary11.1
Placenta12.7
Pons9.7
PrefrontalCortex13.1
Prostate12.35
Salivarygland9.85
SkeletalMuscle12.1
Skin10.75
SmoothMuscle16.75
Spinalcord13.4
SubthalamicNucleus9.15
SuperiorCervicalGanglion11.95
TemporalLobe10.8
Testis8.95
TestisGermCell8.4
TestisIntersitial6.55
TestisLeydigCell9.95
TestisSeminiferousTubule8.6
Thalamus10.5
Thymus8.4
Thyroid14.55
Tongue15.15
Tonsil32.6
Trachea8.9
TrigeminalGanglion18.15
Uterus8.05
UterusCorpus8.95
WholeBlood72.85
Wholebrain7.9
colon10.2
pineal_day13
pineal_night12.08
retina16.825
small_intestine9.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P329870
  • 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
Amygdala4.77 ± 0.63
Basal Forebrain5.16 ± 0.42
Basal Part of Pons5.93 ± 0.48
Cerebellar Cortex4.42 ± 0.36
Cerebellar Nuclei6.45 ± 0.33
Claustrum4.27 ± 1
Epithalamus6.27 ± 0.46
Frontal Lobe5.01 ± 0.74
Globus Pallidus6.89 ± 0.33
Hypothalamus4.93 ± 1.36
Insula5.35 ± 0.53
Limbic Lobe4.82 ± 0.7
Mesencephalon5.03 ± 0.79
Myelencephalon5.13 ± 0.78
Occipital Lobe4.62 ± 0.81
Parietal Lobe5 ± 0.58
Pontine Tegmentum4.91 ± 0.61
Striatum5.62 ± 0.56
Subthalamus5.81 ± 0.27
Temporal Lobe5.31 ± 0.57
Thalamus5.29 ± 0.6
White Matter6.75 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rhbdf2CBCerebellum26.04
28.05
Rhbdf2CTXCerebral cortex13.25
8.81
Rhbdf2HIPHippocampal region6.6
7.39
Rhbdf2HPFHippocampal formation9.09
8.59
Rhbdf2HYHypothalamus1.52
1.43
Rhbdf2LSXLateral septal complex1.48
0.99
Rhbdf2MBMidbrain14.61
13.19
Rhbdf2MYMedulla22.48
29.49
Rhbdf2OLFOlfactory bulb45.12
34.71
Rhbdf2PPons23.26
25.86
Rhbdf2PALPallidum1.34
0.95
Rhbdf2RHPRetrohippocampal region15.27
11.42
Rhbdf2sAMYStriatum-like amygdalar nuclei5.84
5.96
Rhbdf2STRStriatum3
2.36
Rhbdf2STRdStriatum dorsal region2.2
1.48
Rhbdf2STRvStriatum ventral region5.4
4.8
Rhbdf2THThalamus4.4
4.39
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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