AutismKB 2.0

Annotation Detail for RSL1D1


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Basic Information Top
Gene Symbol:RSL1D1 ( CSIG,DKFZP564M182,MGC138433,MGC142259,PBK1 )
Gene Full Name: ribosomal L1 domain containing 1
Band: 16p13.13
Quick LinksEntrez ID:26156; OMIM: NA; Uniprot ID:RL1D1_HUMAN; ENSEMBL ID: ENSG00000171490; HGNC ID: 24534
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 body7 / 7076198
blastocyst20 / 62319320
fetus53 / 56401293
neonate4 / 31097128
infant6 / 23620254
juvenile18 / 55556323
adult199 / 1939121102
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma10 / 17475572
breast (mammary gland) tumor23 / 94178244
cervical tumor19 / 34366552
chondrosarcoma4 / 8282348
colorectal tumor21 / 114246183
esophageal tumor4 / 17290231
gastrointestinal tumor28 / 119369234
germ cell tumor114 / 263845432
glioma12 / 106883112
head and neck tumor10 / 13630273
kidney tumor6 / 6895987
leukemia30 / 95842313
liver tumor16 / 96359166
lung tumor22 / 103127213
lymphoma12 / 71755167
non-neoplasia8 / 9725082
normal389 / 3360307115
ovarian tumor14 / 76682182
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS43 / 125680342
prostate cancer31 / 102680301
retinoblastoma19 / 46356409
skin tumor21 / 124949168
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland1 / 3319730
ascites17 / 40015424
bladder16 / 29757537
blood30 / 123478242
bone8 / 71655111
bone marrow25 / 48801512
brain125 / 1100989113
cervix20 / 48171415
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue43 / 215722199
esophagus4 / 20209197
eye33 / 211054156
heart19 / 89626211
intestine31 / 234472132
kidney25 / 211777118
larynx2 / 2414582
liver43 / 207743206
lung40 / 336974118
lymph9 / 44270203
lymph node5 / 9161054
mammary gland28 / 153271182
mouth3 / 6705244
muscle10 / 10771592
nerve1 / 1576863
ovary16 / 102051156
pancreas9 / 21481241
parathyroid2 / 2053997
pharynx16 / 41328387
pituitary gland2 / 16585120
placenta22 / 28082578
prostate39 / 189345205
salivary gland11 / 20155545
skin35 / 210574166
spleen6 / 53952111
stomach13 / 96619134
testis81 / 330442245
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus31 / 232878133
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212018_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts500.3
Adipocyte99.55
AdrenalCortex65.7
Adrenalgland39.55
Amygdala54.8
Appendix67.45
AtrioventricularNode68.5
BDCA4+_DentriticCells107.95
Bonemarrow52.95
BronchialEpithelialCells249.9
CD105+_Endothelial91.7
CD14+_Monocytes293.7
CD19+_BCells(neg._sel.)414.6
CD33+_Myeloid77.85
CD34+270.5
CD4+_Tcells195.55
CD56+_NKCells104.9
CD71+_EarlyErythroid41.65
CD8+_Tcells257.85
CardiacMyocytes125.4
Caudatenucleus50.7
Cerebellum31.55
CerebellumPeduncles76.55
CiliaryGanglion66.95
CingulateCortex50.15
Colorectaladenocarcinoma126.55
DorsalRootGanglion66.95
FetalThyroid52.3
Fetalbrain76.8
Fetalliver70.35
Fetallung96.65
GlobusPallidus40.6
Heart44.4
Hypothalamus48.95
Kidney28.45
Leukemia_chronicMyelogenousK-562321.75
Leukemia_promyelocytic-HL-60304.35
Leukemialymphoblastic(MOLT-4)188.85
Liver48.3
Lung21.35
Lymphnode118
Lymphoma_burkitts(Daudi)450.85
Lymphoma_burkitts(Raji)215
MedullaOblongata43.55
OccipitalLobe44.6
OlfactoryBulb46.3
Ovary112.35
Pancreas132.5
PancreaticIslet220.85
ParietalLobe60.3
Pituitary91.1
Placenta56.2
Pons52.25
PrefrontalCortex41.15
Prostate43
Salivarygland77.35
SkeletalMuscle46.15
Skin58.2
SmoothMuscle144.65
Spinalcord55.75
SubthalamicNucleus47.2
SuperiorCervicalGanglion72.2
TemporalLobe57.15
Testis42.3
TestisGermCell42.65
TestisIntersitial39
TestisLeydigCell66.95
TestisSeminiferousTubule45.45
Thalamus54.8
Thymus42.2
Thyroid144.2
Tongue59
Tonsil92.4
Trachea54.65
TrigeminalGanglion61.65
Uterus38.6
UterusCorpus58.7
WholeBlood208.7
Wholebrain23.95
colon26.1
pineal_day80
pineal_night87.26
retina35.375
small_intestine19.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P778836
  • 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
Amygdala8.21 ± 0.42
Basal Forebrain8.18 ± 0.21
Basal Part of Pons8.6 ± 0.31
Cerebellar Cortex8.7 ± 0.14
Cerebellar Nuclei8.14 ± 0.27
Claustrum8.26 ± 0.44
Epithalamus8.1 ± 0.37
Frontal Lobe8.52 ± 0.3
Globus Pallidus7.75 ± 0.19
Hypothalamus8.63 ± 0.35
Insula8.65 ± 0.25
Limbic Lobe8.37 ± 0.42
Mesencephalon8.2 ± 0.33
Myelencephalon8.33 ± 0.39
Occipital Lobe8.12 ± 0.4
Parietal Lobe8.46 ± 0.34
Pontine Tegmentum8.42 ± 0.41
Striatum7.85 ± 0.33
Subthalamus8.65 ± 0.05
Temporal Lobe8.51 ± 0.29
Thalamus8.31 ± 0.37
White Matter7.63 ± 0.19
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002081 15 193 207 EINDCIGGTVLNISK Peptide Atlas
RL1D1_HUMAN_278 11 278 288 SLLNKKKKEAR PRIDE
RL1D1_HUMAN_453 19 453 471 QTPKKPEAKFFTTPSKSVR 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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