AutismKB 2.0

Annotation Detail for RFC1


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Basic Information Top
Gene Symbol:RFC1 ( A1,MGC51786,MHCBFB,PO-GA,RECC1,RFC,RFC140 )
Gene Full Name: replication factor C (activator 1) 1, 145kDa
Band: 4p14
Quick LinksEntrez ID:5981; OMIM: 102579; Uniprot ID:RFC1_HUMAN; ENSEMBL ID: ENSG00000035928; HGNC ID: 9969
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 
blastocyst8 / 62319128
fetus28 / 56401249
neonate1 / 3109732
infant1 / 2362042
juvenile10 / 55556179
adult93 / 193912147
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor4 / 34366116
chondrosarcoma8 / 8282396
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor33 / 263845125
glioma5 / 10688346
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia10 / 95842104
liver tumor10 / 96359103
lung tumor4 / 10312738
lymphoma4 / 7175555
non-neoplasia8 / 9725082
normal188 / 336030755
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer4 / 10268038
retinoblastoma6 / 46356129
skin tumor8 / 12494964
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites2 / 4001549
bladder4 / 29757134
blood7 / 12347856
bone5 / 7165569
bone marrow3 / 4880161
brain52 / 110098947
cervix4 / 4817183
connective tissue4 / 14925526
ear2 / 16212123
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye17 / 21105480
heart1 / 8962611
intestine12 / 23447251
kidney18 / 21177784
larynx0 / 241450 
liver24 / 207743115
lung18 / 33697453
lymph4 / 4427090
lymph node28 / 91610305
mammary gland8 / 15327152
mouth1 / 6705214
muscle3 / 10771527
nerve2 / 15768126
ovary4 / 10205139
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta8 / 28082528
prostate4 / 18934521
salivary gland2 / 2015599
skin11 / 21057452
spleen0 / 539520 
stomach1 / 9661910
testis25 / 33044275
thymus5 / 8113161
thyroid10 / 47473210
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord1 / 1368073
uterus20 / 23287885
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209085_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts42.75
Adipocyte13
AdrenalCortex12.2
Adrenalgland9.8
Amygdala15.75
Appendix14
AtrioventricularNode9.55
BDCA4+_DentriticCells17.05
Bonemarrow12.55
BronchialEpithelialCells20.1
CD105+_Endothelial29.55
CD14+_Monocytes17.2
CD19+_BCells(neg._sel.)22.25
CD33+_Myeloid16.15
CD34+31.35
CD4+_Tcells27.45
CD56+_NKCells34.45
CD71+_EarlyErythroid13.55
CD8+_Tcells23.15
CardiacMyocytes27.85
Caudatenucleus11.2
Cerebellum10
CerebellumPeduncles12.8
CiliaryGanglion8.75
CingulateCortex12.7
Colorectaladenocarcinoma12.65
DorsalRootGanglion8.95
FetalThyroid12.3
Fetalbrain16.35
Fetalliver14
Fetallung18
GlobusPallidus7.95
Heart17.3
Hypothalamus20
Kidney9.45
Leukemia_chronicMyelogenousK-56216.1
Leukemia_promyelocytic-HL-6059.25
Leukemialymphoblastic(MOLT-4)104.55
Liver14.55
Lung11.65
Lymphnode13.1
Lymphoma_burkitts(Daudi)66.9
Lymphoma_burkitts(Raji)43.7
MedullaOblongata10.75
OccipitalLobe11.55
OlfactoryBulb10.25
Ovary8.95
Pancreas9.65
PancreaticIslet13.95
ParietalLobe13.05
Pituitary16.1
Placenta11.05
Pons12.3
PrefrontalCortex14
Prostate14.6
Salivarygland9.7
SkeletalMuscle14.5
Skin10.5
SmoothMuscle18.55
Spinalcord12.5
SubthalamicNucleus12
SuperiorCervicalGanglion16.25
TemporalLobe10.7
Testis10.8
TestisGermCell10.25
TestisIntersitial11.5
TestisLeydigCell19.3
TestisSeminiferousTubule10.8
Thalamus12.25
Thymus11.3
Thyroid24.3
Tongue13.6
Tonsil18.5
Trachea8.95
TrigeminalGanglion16.95
Uterus12.45
UterusCorpus12.25
WholeBlood14.2
Wholebrain9.55
colon11.75
pineal_day15.66
pineal_night18.04
retina14.725
small_intestine11.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P136807
  • 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
Amygdala9.85 ± 0.12
Basal Forebrain9.97 ± 0.23
Basal Part of Pons9.78 ± 0.18
Cerebellar Cortex9.8 ± 0.11
Cerebellar Nuclei9.97 ± 0.14
Claustrum9.94 ± 0.17
Epithalamus10.15 ± 0.22
Frontal Lobe9.81 ± 0.25
Globus Pallidus10.47 ± 0.14
Hypothalamus9.83 ± 0.26
Insula9.75 ± 0.14
Limbic Lobe9.82 ± 0.26
Mesencephalon9.89 ± 0.26
Myelencephalon9.88 ± 0.23
Occipital Lobe9.97 ± 0.18
Parietal Lobe9.86 ± 0.2
Pontine Tegmentum9.92 ± 0.22
Striatum10.08 ± 0.23
Subthalamus9.9 ± 0.2
Temporal Lobe9.83 ± 0.19
Thalamus9.93 ± 0.19
White Matter10.98 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Recc1CBCerebellum12.29
13.96
Recc1CTXCerebral cortex22.51
17.49
Recc1HIPHippocampal region20.51
24.81
Recc1HPFHippocampal formation20.65
21.51
Recc1HYHypothalamus12.95
12.16
Recc1LSXLateral septal complex3.91
2.54
Recc1MBMidbrain6.41
6.4
Recc1MYMedulla8.87
9.76
Recc1OLFOlfactory bulb21.26
18.54
Recc1PPons6.15
5.89
Recc1PALPallidum21.28
22.93
Recc1RHPRetrohippocampal region21.09
17.57
Recc1sAMYStriatum-like amygdalar nuclei3.98
3.41
Recc1STRStriatum11.63
10.17
Recc1STRdStriatum dorsal region8.18
6.98
Recc1STRvStriatum ventral region29.68
25.37
Recc1THThalamus5.04
4.89
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011498 10 761 770 SLVHYCFDLR Peptide Atlas
RFC1_HUMAN_152 25 152 176 NKPLSPIKLTPTSVLDYFGTGSVQR PRIDE
RFC1_HUMAN_218 10 218 227 QLHEDEEFAR PRIDE

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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