AutismKB 2.0

Annotation Detail for RFWD2


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Basic Information Top
Gene Symbol:RFWD2 ( COP1,FLJ10416,RNF200 )
Gene Full Name: ring finger and WD repeat domain 2
Band: 1q25.1-q25.2
Quick LinksEntrez ID:64326; OMIM: 608067; Uniprot ID:RFWD2_HUMAN; ENSEMBL ID: ENSG00000143207; HGNC ID: 17440
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 body1 / 7076114
blastocyst3 / 6231948
fetus26 / 56401246
neonate1 / 3109732
infant1 / 2362042
juvenile0 / 555560 
adult79 / 193912140
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor15 / 26384556
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor6 / 6895987
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal140 / 336030741
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder3 / 29757100
blood5 / 12347840
bone4 / 7165555
bone marrow0 / 488010 
brain21 / 110098919
cervix2 / 4817141
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye6 / 21105428
heart6 / 8962666
intestine2 / 2344728
kidney9 / 21177742
larynx0 / 241450 
liver9 / 20774343
lung13 / 33697438
lymph0 / 442700 
lymph node4 / 9161043
mammary gland3 / 15327119
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate5 / 18934526
salivary gland1 / 2015549
skin26 / 210574123
spleen1 / 5395218
stomach12 / 96619124
testis19 / 33044257
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus15 / 23287864
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_23_P396194
  • 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
Amygdala7.87 ± 0.45
Basal Forebrain7.79 ± 0.13
Basal Part of Pons8.06 ± 0.21
Cerebellar Cortex8.19 ± 0.16
Cerebellar Nuclei7.87 ± 0.15
Claustrum8 ± 0.26
Epithalamus8.17 ± 0.3
Frontal Lobe8.11 ± 0.27
Globus Pallidus7.41 ± 0.15
Hypothalamus8.14 ± 0.25
Insula8.22 ± 0.18
Limbic Lobe8.08 ± 0.41
Mesencephalon7.89 ± 0.32
Myelencephalon7.96 ± 0.35
Occipital Lobe7.74 ± 0.41
Parietal Lobe8 ± 0.31
Pontine Tegmentum8.04 ± 0.31
Striatum7.68 ± 0.39
Subthalamus8.07 ± 0.37
Temporal Lobe8.18 ± 0.3
Thalamus7.8 ± 0.24
White Matter7.42 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rfwd2CBCerebellum0.91
1.32
Rfwd2CTXCerebral cortex1.03
0.8
Rfwd2HIPHippocampal region0.57
0.6
Rfwd2HPFHippocampal formation0.56
0.67
Rfwd2HYHypothalamus0.22
0.2
Rfwd2LSXLateral septal complex0.36
0.32
Rfwd2MBMidbrain0.94
1.18
Rfwd2MYMedulla0.75
0.78
Rfwd2OLFOlfactory bulb1.12
0.85
Rfwd2PPons0.69
0.68
Rfwd2PALPallidum0.82
0.85
Rfwd2RHPRetrohippocampal region0.51
0.78
Rfwd2sAMYStriatum-like amygdalar nuclei0.41
0.37
Rfwd2STRStriatum0.42
0.34
Rfwd2STRdStriatum dorsal region0.44
0.36
Rfwd2STRvStriatum ventral region0.46
0.33
Rfwd2THThalamus0.4
0.34
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