AutismKB 2.0

Annotation Detail for RECQL5


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Basic Information Top
Gene Symbol:RECQL5 ( FLJ90603,RECQ5 )
Gene Full Name: RecQ protein-like 5
Band: 17q25
Quick LinksEntrez ID:9400; OMIM: 603781; Uniprot ID:RECQ5_HUMAN; ENSEMBL ID: ENSG00000108469; HGNC ID: 9950
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 
blastocyst2 / 6231932
fetus5 / 5640128
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult56 / 193912128
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) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma7 / 10688365
head and neck tumor10 / 13630273
kidney tumor7 / 68959101
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma9 / 71755125
non-neoplasia2 / 9725020
normal58 / 336030717
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow1 / 4880120
brain21 / 110098919
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye13 / 21105461
heart1 / 8962611
intestine6 / 23447225
kidney13 / 21177761
larynx3 / 24145124
liver0 / 2077430 
lung7 / 33697420
lymph6 / 44270135
lymph node5 / 9161054
mammary gland5 / 15327132
mouth7 / 67052104
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta14 / 28082549
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen2 / 5395237
stomach1 / 9661910
testis6 / 33044218
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord2 / 13680146
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 34063_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.3
Adipocyte6.05
AdrenalCortex6.8
Adrenalgland5.35
Amygdala6.35
Appendix6.35
AtrioventricularNode6.3
BDCA4+_DentriticCells14.15
Bonemarrow6.3
BronchialEpithelialCells5.95
CD105+_Endothelial6
CD14+_Monocytes6.7
CD19+_BCells(neg._sel.)6.4
CD33+_Myeloid7.85
CD34+7.6
CD4+_Tcells6.5
CD56+_NKCells7.3
CD71+_EarlyErythroid5.75
CD8+_Tcells5.9
CardiacMyocytes8.6
Caudatenucleus5.35
Cerebellum4.95
CerebellumPeduncles7
CiliaryGanglion6.25
CingulateCortex6.2
Colorectaladenocarcinoma6.15
DorsalRootGanglion5.8
FetalThyroid5.9
Fetalbrain6
Fetalliver5.25
Fetallung4.9
GlobusPallidus4.55
Heart8.45
Hypothalamus6.45
Kidney4.9
Leukemia_chronicMyelogenousK-5625.5
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)4.9
Liver8.4
Lung6.75
Lymphnode5.15
Lymphoma_burkitts(Daudi)7.7
Lymphoma_burkitts(Raji)8.8
MedullaOblongata5.4
OccipitalLobe5.45
OlfactoryBulb4.75
Ovary4.1
Pancreas4.95
PancreaticIslet6.6
ParietalLobe6.5
Pituitary7.1
Placenta6.25
Pons5.8
PrefrontalCortex7.65
Prostate7.4
Salivarygland4.85
SkeletalMuscle9.6
Skin4.95
SmoothMuscle6.9
Spinalcord6.5
SubthalamicNucleus5.6
SuperiorCervicalGanglion7.4
TemporalLobe5.6
Testis5.2
TestisGermCell5
TestisIntersitial5.15
TestisLeydigCell6.1
TestisSeminiferousTubule5.2
Thalamus6.2
Thymus4.8
Thyroid7.75
Tongue6.05
Tonsil5.95
Trachea5.05
TrigeminalGanglion6.75
Uterus4.9
UterusCorpus6.85
WholeBlood6.75
Wholebrain5.1
colon6.1
pineal_day7.56
pineal_night7.24
retina7.325
small_intestine5.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_925_PI416379584
  • 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
Amygdala4.64 ± 0.91
Basal Forebrain5.01 ± 0.35
Basal Part of Pons4.8 ± 0.72
Cerebellar Cortex4.66 ± 0.33
Cerebellar Nuclei5.65 ± 0.67
Claustrum4.85 ± 0.83
Epithalamus5.69 ± 0.49
Frontal Lobe4.65 ± 0.64
Globus Pallidus6.1 ± 0.32
Hypothalamus4.44 ± 0.5
Insula4.05 ± 0.67
Limbic Lobe4.64 ± 0.65
Mesencephalon4.78 ± 0.71
Myelencephalon4.87 ± 0.59
Occipital Lobe5.03 ± 0.78
Parietal Lobe4.75 ± 0.59
Pontine Tegmentum4.92 ± 0.61
Striatum5.04 ± 0.58
Subthalamus5.33 ± 0.5
Temporal Lobe4.55 ± 0.56
Thalamus4.89 ± 0.48
White Matter7.19 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Recql5CBCerebellum2.52
2.82
Recql5CTXCerebral cortex2.51
1.76
Recql5HIPHippocampal region5.11
4.2
Recql5HPFHippocampal formation3.54
2.77
Recql5HYHypothalamus0.65
0.75
Recql5LSXLateral septal complex0.94
0.75
Recql5MBMidbrain2.01
1.89
Recql5MYMedulla1.53
1.41
Recql5OLFOlfactory bulb1.63
1.17
Recql5PPons2.3
2.51
Recql5PALPallidum0.56
0.7
Recql5RHPRetrohippocampal region0.94
0.77
Recql5sAMYStriatum-like amygdalar nuclei0.34
0.42
Recql5STRStriatum0.5
0.41
Recql5STRdStriatum dorsal region0.49
0.42
Recql5STRvStriatum ventral region0.41
0.23
Recql5THThalamus0.87
0.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00012122 23 804 826 YTGEEDGAGGHSPAPPQTEECLR Peptide Atlas
RECQ5_HUMAN_0 0 0 0 DPKIEEFVPPDENCPLK 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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