AutismKB 2.0

Annotation Detail for RHBDF1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RHBDF1 ( C16orf8,Dist1,EGFR-RS,FLJ2235,FLJ22357,gene-89,gene-90,hDist1 )
Gene Full Name: rhomboid 5 homolog 1 (Drosophila)
Band: 16p13.3
Quick LinksEntrez ID:64285; OMIM: NA; Uniprot ID:RHDF1_HUMAN; ENSEMBL ID: ENSG00000007384; HGNC ID: 20561
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218686_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.65
Adipocyte6.75
AdrenalCortex5.5
Adrenalgland4.5
Amygdala5.75
Appendix5.7
AtrioventricularNode4.6
BDCA4+_DentriticCells4.7
Bonemarrow5.3
BronchialEpithelialCells10.1
CD105+_Endothelial5.4
CD14+_Monocytes5.75
CD19+_BCells(neg._sel.)5.7
CD33+_Myeloid6.05
CD34+5.9
CD4+_Tcells4.25
CD56+_NKCells5.4
CD71+_EarlyErythroid5
CD8+_Tcells4
CardiacMyocytes9.45
Caudatenucleus4.9
Cerebellum4.35
CerebellumPeduncles6.1
CiliaryGanglion6.85
CingulateCortex5.45
Colorectaladenocarcinoma6.5
DorsalRootGanglion10.15
FetalThyroid9.25
Fetalbrain5.4
Fetalliver4.65
Fetallung13.2
GlobusPallidus3.9
Heart12.2
Hypothalamus5.95
Kidney4.5
Leukemia_chronicMyelogenousK-5624.9
Leukemia_promyelocytic-HL-604.75
Leukemialymphoblastic(MOLT-4)4.2
Liver7.15
Lung22.35
Lymphnode4.7
Lymphoma_burkitts(Daudi)6.9
Lymphoma_burkitts(Raji)7.5
MedullaOblongata5.15
OccipitalLobe4.85
OlfactoryBulb34.2
Ovary4.4
Pancreas11.4
PancreaticIslet7.65
ParietalLobe5.6
Pituitary6.25
Placenta29.2
Pons5.15
PrefrontalCortex6.7
Prostate28.5
Salivarygland4.3
SkeletalMuscle6.4
Skin6.1
SmoothMuscle15.3
Spinalcord8
SubthalamicNucleus4.95
SuperiorCervicalGanglion6.15
TemporalLobe4.9
Testis8.15
TestisGermCell4.5
TestisIntersitial4.65
TestisLeydigCell5.35
TestisSeminiferousTubule4.9
Thalamus5.45
Thymus4.3
Thyroid10.75
Tongue6.65
Tonsil5.35
Trachea4.65
TrigeminalGanglion7.15
Uterus10
UterusCorpus7.85
WholeBlood6
Wholebrain4.65
colon5.5
pineal_day5.92
pineal_night5.94
retina8.625
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11504_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
Amygdala1.94 ± 0.98
Basal Forebrain1.35 ± 0.38
Basal Part of Pons1.29 ± 0.41
Cerebellar Cortex1.5 ± 0.7
Cerebellar Nuclei1.8 ± 0.57
Claustrum2.21 ± 0.83
Epithalamus1.3 ± 0.69
Frontal Lobe1.59 ± 0.65
Globus Pallidus1.91 ± 0.52
Hypothalamus1.49 ± 0.66
Insula1.37 ± 0.78
Limbic Lobe1.61 ± 0.72
Mesencephalon1.89 ± 0.75
Myelencephalon1.72 ± 0.68
Occipital Lobe1.87 ± 0.77
Parietal Lobe1.55 ± 0.72
Pontine Tegmentum1.68 ± 0.63
Striatum1.97 ± 0.64
Subthalamus1.64 ± 0.74
Temporal Lobe1.62 ± 0.69
Thalamus1.84 ± 0.6
White Matter1.51 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rhbdf1CBCerebellum52.96
52.4
Rhbdf1CTXCerebral cortex52.78
51.68
Rhbdf1HIPHippocampal region43.9
36.21
Rhbdf1HPFHippocampal formation49.51
43.9
Rhbdf1HYHypothalamus35.08
24.53
Rhbdf1LSXLateral septal complex23.38
14.31
Rhbdf1MBMidbrain38.99
30.28
Rhbdf1MYMedulla52.69
51.68
Rhbdf1OLFOlfactory bulb46.63
44.32
Rhbdf1PPons38.83
31.01
Rhbdf1PALPallidum23.94
20.62
Rhbdf1RHPRetrohippocampal region52.9
51.68
Rhbdf1sAMYStriatum-like amygdalar nuclei37.2
27.08
Rhbdf1STRStriatum30.53
20.7
Rhbdf1STRdStriatum dorsal region29.2
18.94
Rhbdf1STRvStriatum ventral region34.53
25.49
Rhbdf1THThalamus50.09
50.06
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00042978 30 167 196 VADDTAEGLSAPHTPVTPGAASLCSFSSSR Peptide Atlas

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