AutismKB 2.0

Annotation Detail for RAD54L2


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Basic Information Top
Gene Symbol:RAD54L2 ( ARIP4,FLJ21396,FLJ22400,HSPC325,KIAA0809,SRISNF2L )
Gene Full Name: RAD54-like 2 (S. cerevisiae)
Band: 3p21.2
Quick LinksEntrez ID:23132; OMIM: NA; Uniprot ID:ARIP4_HUMAN; ENSEMBL ID: ENSG00000164080; HGNC ID: 29123
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 
blastocyst1 / 6231916
fetus17 / 56401230
neonate6 / 31097192
infant0 / 236200 
juvenile1 / 5555617
adult31 / 193912115
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor8 / 26384530
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor6 / 6895987
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal65 / 336030719
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma6 / 46356129
skin tumor6 / 12494948
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow0 / 488010 
brain20 / 110098918
cervix1 / 4817120
connective tissue2 / 14925513
ear2 / 16212123
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye6 / 21105428
heart0 / 896260 
intestine0 / 2344720 
kidney7 / 21177733
larynx0 / 241450 
liver3 / 20774314
lung2 / 3369745
lymph0 / 442700 
lymph node2 / 9161021
mammary gland5 / 15327132
mouth0 / 670520 
muscle2 / 10771518
nerve2 / 15768126
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta12 / 28082542
prostate3 / 18934515
salivary gland0 / 201550 
skin6 / 21057428
spleen2 / 5395237
stomach0 / 966190 
testis3 / 3304429
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord12 / 13680877
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213205_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.3
Adipocyte4
AdrenalCortex4.35
Adrenalgland3.5
Amygdala4.4
Appendix4.2
AtrioventricularNode3.2
BDCA4+_DentriticCells4.7
Bonemarrow4.15
BronchialEpithelialCells3.8
CD105+_Endothelial4.25
CD14+_Monocytes4.5
CD19+_BCells(neg._sel.)4.5
CD33+_Myeloid5.55
CD34+5.5
CD4+_Tcells4.75
CD56+_NKCells5.1
CD71+_EarlyErythroid3.95
CD8+_Tcells4.2
CardiacMyocytes5.3
Caudatenucleus3.8
Cerebellum3.45
CerebellumPeduncles4.75
CiliaryGanglion2.95
CingulateCortex4.3
Colorectaladenocarcinoma4.35
DorsalRootGanglion3.75
FetalThyroid4.1
Fetalbrain4.15
Fetalliver3.65
Fetallung3.45
GlobusPallidus3.05
Heart5.25
Hypothalamus4.5
Kidney3.35
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)4.55
Liver5.45
Lung4.6
Lymphnode3.65
Lymphoma_burkitts(Daudi)5.95
Lymphoma_burkitts(Raji)5.9
MedullaOblongata3.9
OccipitalLobe4.1
OlfactoryBulb3.3
Ovary2.75
Pancreas3.65
PancreaticIslet4.8
ParietalLobe4.45
Pituitary4.9
Placenta6.25
Pons4.15
PrefrontalCortex5.3
Prostate5.1
Salivarygland3.65
SkeletalMuscle4.75
Skin3.3
SmoothMuscle4.75
Spinalcord4.5
SubthalamicNucleus3.8
SuperiorCervicalGanglion4.75
TemporalLobe3.85
Testis5.4
TestisGermCell4.85
TestisIntersitial3.55
TestisLeydigCell4.1
TestisSeminiferousTubule4.3
Thalamus4.25
Thymus4.4
Thyroid5.25
Tongue4.05
Tonsil4.05
Trachea3.5
TrigeminalGanglion4.15
Uterus4
UterusCorpus3.95
WholeBlood4.6
Wholebrain3.55
colon4.25
pineal_day5.5
pineal_night5.18
retina5.45
small_intestine4.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6589_PI416261804
  • 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
Amygdala3.97 ± 0.58
Basal Forebrain3.6 ± 0.39
Basal Part of Pons3.62 ± 0.77
Cerebellar Cortex3.93 ± 0.43
Cerebellar Nuclei3.7 ± 0.49
Claustrum3.74 ± 0.57
Epithalamus3.51 ± 0.77
Frontal Lobe3.51 ± 0.59
Globus Pallidus4.25 ± 0.53
Hypothalamus3.29 ± 0.29
Insula2.99 ± 0.91
Limbic Lobe3.6 ± 0.65
Mesencephalon3.63 ± 0.8
Myelencephalon3.62 ± 0.64
Occipital Lobe3.72 ± 0.59
Parietal Lobe3.63 ± 0.64
Pontine Tegmentum3.67 ± 0.68
Striatum3.74 ± 0.84
Subthalamus3.69 ± 0.4
Temporal Lobe3.63 ± 0.65
Thalamus3.54 ± 0.61
White Matter4 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rad54l2CBCerebellum29.67
35.47
Rad54l2CTXCerebral cortex56.52
41.2
Rad54l2HIPHippocampal region38.43
44.93
Rad54l2HPFHippocampal formation39.1
39.1
Rad54l2HYHypothalamus35.49
27.91
Rad54l2LSXLateral septal complex47.45
35.13
Rad54l2MBMidbrain24.56
19.64
Rad54l2MYMedulla32.3
31.47
Rad54l2OLFOlfactory bulb56.4
46.05
Rad54l2PPons24.55
21.3
Rad54l2PALPallidum35.28
30.87
Rad54l2RHPRetrohippocampal region37.83
28.98
Rad54l2sAMYStriatum-like amygdalar nuclei61.16
45.35
Rad54l2STRStriatum37.22
26.62
Rad54l2STRdStriatum dorsal region30.94
21.7
Rad54l2STRvStriatum ventral region42.76
29.94
Rad54l2THThalamus37.71
31.06
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


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