AutismKB 2.0

Annotation Detail for GOSR1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GOSR1 ( GOLIM2,GOS-28,GOS28,GOS28/P28,GS28,P28 )
Gene Full Name: golgi SNAP receptor complex member 1
Band: 17q11.2
Quick LinksEntrez ID:9527; OMIM: 604026; Uniprot ID:GOSR1_HUMAN; ENSEMBL ID: ENSG00000108587; HGNC ID: 4430
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 body1 / 7076114
blastocyst1 / 6231916
fetus20 / 56401235
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult65 / 193912133
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) tumor5 / 9417853
cervical tumor7 / 34366203
chondrosarcoma3 / 8282336
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor7 / 26384526
glioma4 / 10688337
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor13 / 96359134
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal134 / 336030739
ovarian tumor1 / 7668213
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder2 / 2975767
blood5 / 12347840
bone2 / 7165527
bone marrow4 / 4880181
brain23 / 110098920
cervix8 / 48171166
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye7 / 21105433
heart4 / 8962644
intestine15 / 23447263
kidney8 / 21177737
larynx1 / 2414541
liver16 / 20774377
lung8 / 33697423
lymph1 / 4427022
lymph node5 / 9161054
mammary gland7 / 15327145
mouth4 / 6705259
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas34 / 214812158
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland2 / 16585120
placenta8 / 28082528
prostate5 / 18934526
salivary gland1 / 2015549
skin4 / 21057418
spleen0 / 539520 
stomach1 / 9661910
testis5 / 33044215
thymus2 / 8113124
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus7 / 23287830
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213021_at
Cell line Expression level Expression bar
721_B_lymphoblasts33.1
Adipocyte10.55
AdrenalCortex13.95
Adrenalgland9.3
Amygdala15.35
Appendix11.3
AtrioventricularNode8.7
BDCA4+_DentriticCells21.45
Bonemarrow10.85
BronchialEpithelialCells12.25
CD105+_Endothelial11.5
CD14+_Monocytes18.9
CD19+_BCells(neg._sel.)11.35
CD33+_Myeloid16.8
CD34+24.65
CD4+_Tcells22.45
CD56+_NKCells15.6
CD71+_EarlyErythroid10.65
CD8+_Tcells21
CardiacMyocytes10.45
Caudatenucleus8.6
Cerebellum9.35
CerebellumPeduncles12.5
CiliaryGanglion7.6
CingulateCortex11.25
Colorectaladenocarcinoma14.05
DorsalRootGanglion8.3
FetalThyroid10.7
Fetalbrain10.65
Fetalliver9.75
Fetallung8.3
GlobusPallidus8.15
Heart14.2
Hypothalamus14.1
Kidney8.85
Leukemia_chronicMyelogenousK-56216.9
Leukemia_promyelocytic-HL-609.6
Leukemialymphoblastic(MOLT-4)9.6
Liver14.55
Lung23.25
Lymphnode9.45
Lymphoma_burkitts(Daudi)13.95
Lymphoma_burkitts(Raji)15.3
MedullaOblongata9.25
OccipitalLobe9.9
OlfactoryBulb8.2
Ovary7.15
Pancreas10.75
PancreaticIslet17.15
ParietalLobe10.75
Pituitary13.1
Placenta13.55
Pons10.3
PrefrontalCortex13.6
Prostate39.05
Salivarygland9
SkeletalMuscle9.9
Skin8.35
SmoothMuscle13.7
Spinalcord9.5
SubthalamicNucleus9.95
SuperiorCervicalGanglion14.65
TemporalLobe10.1
Testis8.95
TestisGermCell12.25
TestisIntersitial5.6
TestisLeydigCell10.9
TestisSeminiferousTubule9.1
Thalamus11.05
Thymus17.4
Thyroid27.5
Tongue11.4
Tonsil10.4
Trachea9.35
TrigeminalGanglion11.55
Uterus23.3
UterusCorpus9.9
WholeBlood13.9
Wholebrain12.2
colon17.15
pineal_day22.68
pineal_night28.18
retina19.075
small_intestine21.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P169462
  • 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
Amygdala8.05 ± 0.26
Basal Forebrain8.19 ± 0.13
Basal Part of Pons8.11 ± 0.27
Cerebellar Cortex8.36 ± 0.15
Cerebellar Nuclei8.05 ± 0.19
Claustrum8.04 ± 0.25
Epithalamus8.14 ± 0.16
Frontal Lobe8.13 ± 0.26
Globus Pallidus7.95 ± 0.26
Hypothalamus8.17 ± 0.17
Insula8.22 ± 0.15
Limbic Lobe8.15 ± 0.26
Mesencephalon8 ± 0.26
Myelencephalon8.08 ± 0.25
Occipital Lobe8.17 ± 0.19
Parietal Lobe8.18 ± 0.2
Pontine Tegmentum8.16 ± 0.24
Striatum8.02 ± 0.26
Subthalamus7.59 ± 0.34
Temporal Lobe8.14 ± 0.26
Thalamus8.07 ± 0.23
White Matter8.67 ± 0.17
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GOSR1_HUMAN_134 10 134 143 ERENLMGSVR PRIDE
PAp00004778 11 33 43 LCTSYSHSSTR 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