AutismKB 2.0

Annotation Detail for HBS1L


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Basic Information Top
Gene Symbol:HBS1L ( DKFZp686L13262,EF-1a,ERFS,HBS1,HSPC276 )
Gene Full Name: HBS1-like (S. cerevisiae)
Band: 6q23.3
Quick LinksEntrez ID:10767; OMIM: 612450; Uniprot ID:HBS1L_HUMAN; ENSEMBL ID: ENSG00000112339; HGNC ID: 4834
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
blastocyst2 / 6231932
fetus42 / 56401274
neonate6 / 31097192
infant2 / 2362084
juvenile3 / 5555653
adult114 / 193912158
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor12 / 94178127
cervical tumor3 / 3436687
chondrosarcoma6 / 8282372
colorectal tumor8 / 11424670
esophageal tumor2 / 17290115
gastrointestinal tumor4 / 11936933
germ cell tumor20 / 26384575
glioma8 / 10688374
head and neck tumor7 / 13630251
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor5 / 9635951
lung tumor1 / 1031279
lymphoma6 / 7175583
non-neoplasia6 / 9725061
normal231 / 336030768
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder3 / 29757100
blood10 / 12347880
bone6 / 7165583
bone marrow6 / 48801122
brain118 / 1100989107
cervix3 / 4817162
connective tissue14 / 14925593
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus3 / 20209148
eye5 / 21105423
heart5 / 8962655
intestine17 / 23447272
kidney12 / 21177756
larynx0 / 241450 
liver9 / 20774343
lung17 / 33697450
lymph0 / 442700 
lymph node5 / 9161054
mammary gland12 / 15327178
mouth6 / 6705289
muscle2 / 10771518
nerve1 / 1576863
ovary8 / 10205178
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta10 / 28082535
prostate8 / 18934542
salivary gland1 / 2015549
skin11 / 21057452
spleen5 / 5395292
stomach6 / 9661962
testis39 / 330442118
thymus13 / 81131160
thyroid2 / 4747342
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord2 / 13680146
uterus16 / 23287868
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209314_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.6
Adipocyte10.55
AdrenalCortex16.85
Adrenalgland10.55
Amygdala12.9
Appendix15.75
AtrioventricularNode15.1
BDCA4+_DentriticCells12.45
Bonemarrow13.55
BronchialEpithelialCells18.45
CD105+_Endothelial47.25
CD14+_Monocytes13
CD19+_BCells(neg._sel.)12.35
CD33+_Myeloid14.95
CD34+32.25
CD4+_Tcells12.25
CD56+_NKCells14.25
CD71+_EarlyErythroid24.4
CD8+_Tcells10.9
CardiacMyocytes26.2
Caudatenucleus10.8
Cerebellum9.8
CerebellumPeduncles14.7
CiliaryGanglion14.7
CingulateCortex12.85
Colorectaladenocarcinoma11.1
DorsalRootGanglion12.2
FetalThyroid12.1
Fetalbrain11.55
Fetalliver12.5
Fetallung9.2
GlobusPallidus10.15
Heart21.35
Hypothalamus12.95
Kidney11.15
Leukemia_chronicMyelogenousK-56212.95
Leukemia_promyelocytic-HL-6010.5
Leukemialymphoblastic(MOLT-4)10.15
Liver19.15
Lung12
Lymphnode9.45
Lymphoma_burkitts(Daudi)15.85
Lymphoma_burkitts(Raji)18.5
MedullaOblongata11.1
OccipitalLobe10.6
OlfactoryBulb9.3
Ovary9.45
Pancreas10.1
PancreaticIslet14.25
ParietalLobe14.85
Pituitary13.5
Placenta12
Pons12.2
PrefrontalCortex15.8
Prostate12.85
Salivarygland10.65
SkeletalMuscle22.05
Skin13.75
SmoothMuscle12.7
Spinalcord17.4
SubthalamicNucleus12.1
SuperiorCervicalGanglion22.2
TemporalLobe11.65
Testis9.5
TestisGermCell8.85
TestisIntersitial10.6
TestisLeydigCell13.15
TestisSeminiferousTubule10.3
Thalamus13.25
Thymus8.45
Thyroid14.4
Tongue14.3
Tonsil11.85
Trachea10.25
TrigeminalGanglion17.8
Uterus12.25
UterusCorpus13.45
WholeBlood12.2
Wholebrain15.6
colon12.4
pineal_day19.2
pineal_night14.72
retina15.075
small_intestine11.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15398_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
Amygdala8.44 ± 0.23
Basal Forebrain8.5 ± 0.1
Basal Part of Pons8.86 ± 0.18
Cerebellar Cortex8.67 ± 0.25
Cerebellar Nuclei8.78 ± 0.27
Claustrum8.77 ± 0.22
Epithalamus8.58 ± 0.33
Frontal Lobe8.7 ± 0.26
Globus Pallidus8.45 ± 0.23
Hypothalamus8.83 ± 0.2
Insula8.6 ± 0.19
Limbic Lobe8.56 ± 0.37
Mesencephalon8.55 ± 0.3
Myelencephalon8.55 ± 0.32
Occipital Lobe8.35 ± 0.31
Parietal Lobe8.7 ± 0.27
Pontine Tegmentum8.62 ± 0.28
Striatum8.25 ± 0.22
Subthalamus9.01 ± 0.18
Temporal Lobe8.68 ± 0.24
Thalamus8.47 ± 0.27
White Matter9 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hbs1lCBCerebellum2.65
3.62
Hbs1lCTXCerebral cortex23.17
19.21
Hbs1lHIPHippocampal region34.22
56.39
Hbs1lHPFHippocampal formation32.88
45.37
Hbs1lHYHypothalamus26.48
21.72
Hbs1lLSXLateral septal complex6.91
6.02
Hbs1lMBMidbrain3.37
4.61
Hbs1lMYMedulla2.7
5.22
Hbs1lOLFOlfactory bulb18.82
17.91
Hbs1lPPons5.41
8.44
Hbs1lPALPallidum13.68
13.67
Hbs1lRHPRetrohippocampal region29.53
26.3
Hbs1lsAMYStriatum-like amygdalar nuclei38.15
29.27
Hbs1lSTRStriatum11.09
9.06
Hbs1lSTRdStriatum dorsal region6.46
5.42
Hbs1lSTRvStriatum ventral region14.18
11.13
Hbs1lTHThalamus20.5
20.21
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00065069 17 46 62 DKPSVEPVEEYDYEDLK Peptide Atlas

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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