AutismKB 2.0

Annotation Detail for GNB1L


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Basic Information Top
Gene Symbol:GNB1L ( DGCRK3,GY2,KIAA1645,WDR14,WDVCF )
Gene Full Name: guanine nucleotide binding protein (G protein), beta polypeptide 1-like
Band: 22q11.21
Quick LinksEntrez ID:54584; OMIM: 610778; Uniprot ID:GNB1L_HUMAN; ENSEMBL ID: ENSG00000185838; HGNC ID: 4397
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 body10 / 70761141
blastocyst6 / 6231996
fetus32 / 56401256
neonate2 / 3109764
infant0 / 236200 
juvenile8 / 55556143
adult95 / 193912148
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor10 / 26384537
glioma8 / 10688374
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia11 / 95842114
liver tumor12 / 96359124
lung tumor10 / 10312796
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal182 / 336030754
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer2 / 10268019
retinoblastoma4 / 4635686
skin tumor5 / 12494940
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood9 / 12347872
bone3 / 7165541
bone marrow0 / 488010 
brain58 / 110098952
cervix2 / 4817141
connective tissue6 / 14925540
ear2 / 16212123
embryonic tissue16 / 21572274
esophagus1 / 2020949
eye12 / 21105456
heart6 / 8962666
intestine9 / 23447238
kidney6 / 21177728
larynx1 / 2414541
liver17 / 20774381
lung20 / 33697459
lymph2 / 4427045
lymph node5 / 9161054
mammary gland7 / 15327145
mouth4 / 6705259
muscle6 / 10771555
nerve0 / 157680 
ovary2 / 10205119
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta21 / 28082574
prostate8 / 18934542
salivary gland0 / 201550 
skin15 / 21057471
spleen1 / 5395218
stomach0 / 966190 
testis12 / 33044236
thymus7 / 8113186
thyroid8 / 47473168
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord2 / 13680146
uterus9 / 23287838
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220762_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.6
Adipocyte5.1
AdrenalCortex5.7
Adrenalgland4.45
Amygdala5.5
Appendix5.25
AtrioventricularNode4.1
BDCA4+_DentriticCells5.9
Bonemarrow5.15
BronchialEpithelialCells5.15
CD105+_Endothelial5.3
CD14+_Monocytes5.85
CD19+_BCells(neg._sel.)5.7
CD33+_Myeloid6.9
CD34+6.55
CD4+_Tcells5.75
CD56+_NKCells6.55
CD71+_EarlyErythroid5.35
CD8+_Tcells5.2
CardiacMyocytes7.6
Caudatenucleus4.7
Cerebellum4.25
CerebellumPeduncles6.05
CiliaryGanglion3.75
CingulateCortex5.45
Colorectaladenocarcinoma5.95
DorsalRootGanglion4.1
FetalThyroid5.1
Fetalbrain5.15
Fetalliver4.6
Fetallung4.3
GlobusPallidus3.9
Heart6.95
Hypothalamus5.7
Kidney4.3
Leukemia_chronicMyelogenousK-56219.65
Leukemia_promyelocytic-HL-605.45
Leukemialymphoblastic(MOLT-4)6.25
Liver7.1
Lung5.75
Lymphnode4.55
Lymphoma_burkitts(Daudi)7.85
Lymphoma_burkitts(Raji)10.95
MedullaOblongata4.75
OccipitalLobe5.5
OlfactoryBulb4.15
Ovary3.55
Pancreas4.85
PancreaticIslet5.65
ParietalLobe5.7
Pituitary6.1
Placenta5.4
Pons5.75
PrefrontalCortex6.3
Prostate6.15
Salivarygland4.25
SkeletalMuscle6.5
Skin3.95
SmoothMuscle5.95
Spinalcord5.55
SubthalamicNucleus4.75
SuperiorCervicalGanglion6
TemporalLobe4.75
Testis4.5
TestisGermCell4.35
TestisIntersitial4.45
TestisLeydigCell5.2
TestisSeminiferousTubule4.55
Thalamus5.35
Thymus5.65
Thyroid6.55
Tongue5.2
Tonsil5.1
Trachea4.45
TrigeminalGanglion5.25
Uterus4.3
UterusCorpus4.75
WholeBlood5.65
Wholebrain4.65
colon5.3
pineal_day6.52
pineal_night6.42
retina6.475
small_intestine5.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9156_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
Amygdala3.84 ± 0.71
Basal Forebrain3.6 ± 0.76
Basal Part of Pons3.62 ± 0.45
Cerebellar Cortex3.9 ± 0.54
Cerebellar Nuclei3.78 ± 0.49
Claustrum3.88 ± 0.7
Epithalamus3.67 ± 0.71
Frontal Lobe3.9 ± 0.64
Globus Pallidus2.98 ± 0.64
Hypothalamus3.5 ± 0.42
Insula4.15 ± 0.53
Limbic Lobe3.78 ± 0.64
Mesencephalon3.69 ± 0.72
Myelencephalon3.76 ± 0.69
Occipital Lobe3.52 ± 0.65
Parietal Lobe3.81 ± 0.67
Pontine Tegmentum3.79 ± 0.62
Striatum3.25 ± 0.73
Subthalamus3.45 ± 0.93
Temporal Lobe3.99 ± 0.57
Thalamus3.67 ± 0.69
White Matter3.4 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gnb1lCBCerebellum2.59
3.1
Gnb1lCTXCerebral cortex4.48
3.72
Gnb1lHIPHippocampal region1.43
1.78
Gnb1lHPFHippocampal formation1.09
1.31
Gnb1lHYHypothalamus0.2
0.46
Gnb1lLSXLateral septal complex0.31
0.32
Gnb1lMBMidbrain1.15
1.82
Gnb1lMYMedulla0.77
0.91
Gnb1lOLFOlfactory bulb1.66
1.97
Gnb1lPPons0.57
1.13
Gnb1lPALPallidum0.25
0.48
Gnb1lRHPRetrohippocampal region0.4
0.55
Gnb1lsAMYStriatum-like amygdalar nuclei0.35
1.07
Gnb1lSTRStriatum0.37
0.55
Gnb1lSTRdStriatum dorsal region0.24
0.32
Gnb1lSTRvStriatum ventral region0.74
0.97
Gnb1lTHThalamus0.24
0.32
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GNB1L_HUMAN_2 16 2 17 TAPCPPPPPDPQFVLR PRIDE
PAp00068999 19 247 265 GTHELTNPGIAEVTIRPDR 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