AutismKB 2.0

Annotation Detail for REC8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:REC8 ( HR21spB,MGC950,REC8L1,Rec8p )
Gene Full Name: REC8 homolog (yeast)
Band: 14q12
Quick LinksEntrez ID:9985; OMIM: 608193; Uniprot ID:REC8_HUMAN; ENSEMBL ID: ENSG00000100918; HGNC ID: 16879
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 body3 / 7076142
blastocyst1 / 6231916
fetus91 / 564012161
neonate0 / 310970 
infant8 / 23620338
juvenile9 / 55556161
adult68 / 193912135
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor32 / 263845121
glioma11 / 106883102
head and neck tumor4 / 13630229
kidney tumor5 / 6895972
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor16 / 103127155
lymphoma5 / 7175569
non-neoplasia1 / 9725010
normal284 / 336030784
ovarian tumor9 / 76682117
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS30 / 125680238
prostate cancer0 / 1026800 
retinoblastoma18 / 46356388
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites6 / 40015149
bladder1 / 2975733
blood7 / 12347856
bone1 / 7165513
bone marrow0 / 488010 
brain184 / 1100989167
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye23 / 211054108
heart2 / 8962622
intestine6 / 23447225
kidney17 / 21177780
larynx0 / 241450 
liver0 / 2077430 
lung48 / 336974142
lymph1 / 4427022
lymph node6 / 9161065
mammary gland1 / 1532716
mouth1 / 6705214
muscle1 / 1077159
nerve2 / 15768126
ovary10 / 10205197
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta2 / 2808257
prostate10 / 18934552
salivary gland1 / 2015549
skin0 / 2105740 
spleen9 / 53952166
stomach7 / 9661972
testis63 / 330442190
thymus53 / 81131653
thyroid1 / 4747321
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus11 / 23287847
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218599_at
Cell line Expression level Expression bar
721_B_lymphoblasts79.3
Adipocyte6.4
AdrenalCortex6.95
Adrenalgland5.55
Amygdala6.95
Appendix6.65
AtrioventricularNode5.05
BDCA4+_DentriticCells30.55
Bonemarrow6.9
BronchialEpithelialCells6.6
CD105+_Endothelial31.4
CD14+_Monocytes9.2
CD19+_BCells(neg._sel.)7.6
CD33+_Myeloid8.55
CD34+36.2
CD4+_Tcells14.55
CD56+_NKCells8.65
CD71+_EarlyErythroid12.05
CD8+_Tcells16.7
CardiacMyocytes8.2
Caudatenucleus6
Cerebellum11.35
CerebellumPeduncles7.5
CiliaryGanglion4.55
CingulateCortex7.05
Colorectaladenocarcinoma6.5
DorsalRootGanglion5
FetalThyroid6.55
Fetalbrain13.45
Fetalliver6.05
Fetallung6.2
GlobusPallidus4.85
Heart8.3
Hypothalamus7.9
Kidney5.35
Leukemia_chronicMyelogenousK-5625.85
Leukemia_promyelocytic-HL-6015
Leukemialymphoblastic(MOLT-4)13.2
Liver8.65
Lung7.55
Lymphnode6.6
Lymphoma_burkitts(Daudi)8.95
Lymphoma_burkitts(Raji)32.9
MedullaOblongata6.2
OccipitalLobe5.9
OlfactoryBulb5.6
Ovary4.35
Pancreas5.5
PancreaticIslet7.15
ParietalLobe6.95
Pituitary20.3
Placenta6.55
Pons6.25
PrefrontalCortex8.6
Prostate7.85
Salivarygland5.3
SkeletalMuscle9.5
Skin5
SmoothMuscle6.7
Spinalcord7.15
SubthalamicNucleus6
SuperiorCervicalGanglion7.45
TemporalLobe6.05
Testis12.25
TestisGermCell13.15
TestisIntersitial19.65
TestisLeydigCell9.6
TestisSeminiferousTubule11.5
Thalamus7
Thymus32.1
Thyroid8.15
Tongue6.45
Tonsil6.6
Trachea5.7
TrigeminalGanglion7.55
Uterus5.5
UterusCorpus6.1
WholeBlood7.3
Wholebrain5.85
colon6.7
pineal_day9.82
pineal_night9.2
retina9.45
small_intestine6.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P344087
  • 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
Amygdala7.4 ± 0.3
Basal Forebrain7.56 ± 0.34
Basal Part of Pons7.94 ± 0.14
Cerebellar Cortex7.95 ± 0.23
Cerebellar Nuclei7.56 ± 0.25
Claustrum7.63 ± 0.41
Epithalamus7.88 ± 0.4
Frontal Lobe7.52 ± 0.35
Globus Pallidus7.48 ± 0.33
Hypothalamus7.79 ± 0.2
Insula7.52 ± 0.28
Limbic Lobe7.54 ± 0.34
Mesencephalon7.43 ± 0.36
Myelencephalon7.61 ± 0.37
Occipital Lobe7.33 ± 0.34
Parietal Lobe7.41 ± 0.34
Pontine Tegmentum7.46 ± 0.36
Striatum7.33 ± 0.26
Subthalamus7.5 ± 0.37
Temporal Lobe7.55 ± 0.36
Thalamus7.66 ± 0.43
White Matter8.2 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rec8L1CBCerebellum57.93
64.32
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved