AutismKB 2.0

Annotation Detail for RFC3


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Basic Information Top
Gene Symbol:RFC3 ( MGC5276,RFC38 )
Gene Full Name: replication factor C (activator 1) 3, 38kDa
Band: 13q13.2
Quick LinksEntrez ID:5983; OMIM: 600405; Uniprot ID:RFC3_HUMAN; ENSEMBL ID: ENSG00000133119; HGNC ID: 9971
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 body4 / 7076156
blastocyst7 / 62319112
fetus33 / 56401258
neonate6 / 31097192
infant5 / 23620211
juvenile16 / 55556287
adult89 / 193912145
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) tumor7 / 9417874
cervical tumor6 / 34366174
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor60 / 263845227
glioma3 / 10688328
head and neck tumor8 / 13630258
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor8 / 9635983
lung tumor3 / 10312729
lymphoma9 / 71755125
non-neoplasia4 / 9725041
normal170 / 336030750
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS24 / 125680190
prostate cancer6 / 10268058
retinoblastoma6 / 46356129
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder3 / 29757100
blood8 / 12347864
bone5 / 7165569
bone marrow3 / 4880161
brain56 / 110098950
cervix6 / 48171124
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye8 / 21105437
heart4 / 8962644
intestine4 / 23447217
kidney8 / 21177737
larynx0 / 241450 
liver19 / 20774391
lung7 / 33697420
lymph6 / 44270135
lymph node7 / 9161076
mammary gland8 / 15327152
mouth8 / 67052119
muscle3 / 10771527
nerve0 / 157680 
ovary6 / 10205158
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta23 / 28082581
prostate10 / 18934552
salivary gland0 / 201550 
skin9 / 21057442
spleen9 / 53952166
stomach2 / 9661920
testis53 / 330442160
thymus7 / 8113186
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204128_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts112.9
Adipocyte4.5
AdrenalCortex5
Adrenalgland3.95
Amygdala4.8
Appendix6.75
AtrioventricularNode3.75
BDCA4+_DentriticCells6.05
Bonemarrow4.65
BronchialEpithelialCells4.6
CD105+_Endothelial28.45
CD14+_Monocytes4.95
CD19+_BCells(neg._sel.)4.85
CD33+_Myeloid6.2
CD34+25.95
CD4+_Tcells5
CD56+_NKCells5.7
CD71+_EarlyErythroid43.65
CD8+_Tcells4.4
CardiacMyocytes6.4
Caudatenucleus4.15
Cerebellum3.75
CerebellumPeduncles5.35
CiliaryGanglion3.4
CingulateCortex4.75
Colorectaladenocarcinoma5.3
DorsalRootGanglion3.65
FetalThyroid4.45
Fetalbrain4.55
Fetalliver4.4
Fetallung3.7
GlobusPallidus3.45
Heart6.2
Hypothalamus4.9
Kidney3.85
Leukemia_chronicMyelogenousK-5624.5
Leukemia_promyelocytic-HL-6029.1
Leukemialymphoblastic(MOLT-4)55.3
Liver6.3
Lung4.95
Lymphnode3.95
Lymphoma_burkitts(Daudi)70.9
Lymphoma_burkitts(Raji)6.65
MedullaOblongata4.25
OccipitalLobe4.15
OlfactoryBulb3.6
Ovary3.15
Pancreas3.75
PancreaticIslet4.95
ParietalLobe5
Pituitary5.35
Placenta4.65
Pons4.45
PrefrontalCortex5.7
Prostate5.2
Salivarygland3.75
SkeletalMuscle5.65
Skin3.8
SmoothMuscle5.15
Spinalcord4.95
SubthalamicNucleus4.3
SuperiorCervicalGanglion6.5
TemporalLobe4.3
Testis4
TestisGermCell3.9
TestisIntersitial4.1
TestisLeydigCell4.65
TestisSeminiferousTubule3.95
Thalamus4.7
Thymus3.8
Thyroid5.65
Tongue4.65
Tonsil4.55
Trachea3.9
TrigeminalGanglion4.8
Uterus3.7
UterusCorpus4.25
WholeBlood4.95
Wholebrain3.85
colon4.7
pineal_day5.66
pineal_night5.5
retina5.625
small_intestine4.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P14193
  • 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
Amygdala5.89 ± 0.43
Basal Forebrain5.17 ± 0.34
Basal Part of Pons5.56 ± 0.25
Cerebellar Cortex5.77 ± 0.23
Cerebellar Nuclei5.38 ± 0.34
Claustrum5.88 ± 0.47
Epithalamus5.35 ± 0.42
Frontal Lobe5.3 ± 0.55
Globus Pallidus4.33 ± 0.32
Hypothalamus5.67 ± 0.47
Insula5.53 ± 0.48
Limbic Lobe5.44 ± 0.51
Mesencephalon5.17 ± 0.61
Myelencephalon5.17 ± 0.61
Occipital Lobe5.08 ± 0.38
Parietal Lobe5 ± 0.49
Pontine Tegmentum5.17 ± 0.57
Striatum4.5 ± 0.43
Subthalamus4.84 ± 0.27
Temporal Lobe5.26 ± 0.41
Thalamus4.64 ± 0.53
White Matter5.03 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rfc3CBCerebellum8.78
10.59
Rfc3CTXCerebral cortex23.05
17.49
Rfc3HIPHippocampal region14.65
14.01
Rfc3HPFHippocampal formation16.92
14.81
Rfc3HYHypothalamus14.92
11.95
Rfc3LSXLateral septal complex3.76
3.61
Rfc3MBMidbrain6.42
7.04
Rfc3MYMedulla9.94
14.92
Rfc3OLFOlfactory bulb40.41
32.25
Rfc3PPons15.96
20.01
Rfc3PALPallidum11.02
9.99
Rfc3RHPRetrohippocampal region22.28
16.98
Rfc3sAMYStriatum-like amygdalar nuclei17.68
13.23
Rfc3STRStriatum9.37
7.41
Rfc3STRdStriatum dorsal region5.97
4.93
Rfc3STRvStriatum ventral region18.55
13.23
Rfc3THThalamus9.63
8.08
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005887 22 28 49 NLVQCGDFPHLLVYGPSGAGKK 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