AutismKB 2.0

Annotation Detail for GBF1


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Basic Information Top
Gene Symbol:GBF1 ( ARF1GEF,FLJ21263,FLJ21500,KIAA0248,MGC134877,MGC134878 )
Gene Full Name: golgi brefeldin A resistant guanine nucleotide exchange factor 1
Band: 10q24.32
Quick LinksEntrez ID:8729; OMIM: 603698; Uniprot ID:GBF1_HUMAN; ENSEMBL ID: ENSG00000107862; HGNC ID: 4181
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 body12 / 70761169
blastocyst9 / 62319144
fetus78 / 564012138
neonate2 / 3109764
infant3 / 23620127
juvenile6 / 55556107
adult198 / 1939121102
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor19 / 94178201
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor27 / 114246236
esophageal tumor2 / 17290115
gastrointestinal tumor5 / 11936941
germ cell tumor25 / 26384594
glioma10 / 10688393
head and neck tumor22 / 136302161
kidney tumor13 / 68959188
leukemia11 / 95842114
liver tumor16 / 96359166
lung tumor10 / 10312796
lymphoma11 / 71755153
non-neoplasia2 / 9725020
normal360 / 3360307107
ovarian tumor8 / 76682104
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor18 / 124949144
soft tissue/muscle tissue tumor44 / 125191351
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland6 / 33197180
ascites0 / 400150 
bladder3 / 29757100
blood11 / 12347889
bone2 / 7165527
bone marrow6 / 48801122
brain159 / 1100989144
cervix1 / 4817120
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue25 / 215722115
esophagus2 / 2020998
eye19 / 21105490
heart2 / 8962622
intestine41 / 234472174
kidney25 / 211777118
larynx4 / 24145165
liver20 / 20774396
lung41 / 336974121
lymph11 / 44270248
lymph node9 / 9161098
mammary gland26 / 153271169
mouth9 / 67052134
muscle33 / 107715306
nerve3 / 15768190
ovary15 / 102051146
pancreas14 / 21481265
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta27 / 28082596
prostate15 / 18934579
salivary gland1 / 2015549
skin26 / 210574123
spleen8 / 53952148
stomach4 / 9661941
testis36 / 330442108
thymus6 / 8113173
thyroid6 / 47473126
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus38 / 232878163
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201439_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.15
Adipocyte10.4
AdrenalCortex11.65
Adrenalgland8.2
Amygdala11.65
Appendix9.6
AtrioventricularNode8.4
BDCA4+_DentriticCells10.05
Bonemarrow9.25
BronchialEpithelialCells7.6
CD105+_Endothelial9.55
CD14+_Monocytes10.4
CD19+_BCells(neg._sel.)7.5
CD33+_Myeloid12.4
CD34+10.65
CD4+_Tcells10.95
CD56+_NKCells9.75
CD71+_EarlyErythroid8.8
CD8+_Tcells9.35
CardiacMyocytes12
Caudatenucleus9.15
Cerebellum7.9
CerebellumPeduncles10.8
CiliaryGanglion7.3
CingulateCortex11.75
Colorectaladenocarcinoma9.65
DorsalRootGanglion7.25
FetalThyroid9.35
Fetalbrain9.75
Fetalliver8.05
Fetallung7.95
GlobusPallidus9
Heart11.8
Hypothalamus10.35
Kidney8.3
Leukemia_chronicMyelogenousK-56211.75
Leukemia_promyelocytic-HL-607
Leukemialymphoblastic(MOLT-4)14.45
Liver12.4
Lung12.35
Lymphnode8.15
Lymphoma_burkitts(Daudi)12.2
Lymphoma_burkitts(Raji)15.65
MedullaOblongata8.95
OccipitalLobe9.1
OlfactoryBulb7.55
Ovary6.35
Pancreas7.75
PancreaticIslet10.2
ParietalLobe12.2
Pituitary13.75
Placenta14.45
Pons10.6
PrefrontalCortex13.45
Prostate18.85
Salivarygland7.6
SkeletalMuscle12.5
Skin7.25
SmoothMuscle13.15
Spinalcord11.6
SubthalamicNucleus10.3
SuperiorCervicalGanglion12.3
TemporalLobe8.7
Testis12.2
TestisGermCell15.5
TestisIntersitial8.15
TestisLeydigCell11
TestisSeminiferousTubule10.3
Thalamus11.25
Thymus8.2
Thyroid15.6
Tongue9.35
Tonsil9.4
Trachea8.1
TrigeminalGanglion9.25
Uterus9
UterusCorpus12.8
WholeBlood8.65
Wholebrain8.4
colon7.55
pineal_day18.8
pineal_night17.84
retina11.425
small_intestine7.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12730_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
Amygdala3.23 ± 0.94
Basal Forebrain2.79 ± 0.45
Basal Part of Pons2.68 ± 0.33
Cerebellar Cortex3.29 ± 0.67
Cerebellar Nuclei3.19 ± 0.8
Claustrum3.31 ± 0.67
Epithalamus2.85 ± 0.61
Frontal Lobe3.21 ± 0.69
Globus Pallidus2.09 ± 0.61
Hypothalamus2.63 ± 0.65
Insula3.25 ± 0.64
Limbic Lobe3.01 ± 0.76
Mesencephalon3.19 ± 1.01
Myelencephalon2.98 ± 0.65
Occipital Lobe2.53 ± 0.79
Parietal Lobe2.93 ± 0.73
Pontine Tegmentum2.99 ± 0.58
Striatum2.49 ± 0.79
Subthalamus3.05 ± 0.8
Temporal Lobe3.12 ± 0.81
Thalamus2.88 ± 0.7
White Matter2.99 ± 1.68
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gbf1CBCerebellum33.79
68.85
Gbf1CTXCerebral cortex51.04
44.33
Gbf1HIPHippocampal region35.92
56.93
Gbf1HPFHippocampal formation38.56
49.85
Gbf1HYHypothalamus13.02
12.64
Gbf1LSXLateral septal complex3.58
4.23
Gbf1MBMidbrain23
27.63
Gbf1MYMedulla36.45
51.72
Gbf1OLFOlfactory bulb36.39
36.48
Gbf1PPons27.55
37.39
Gbf1PALPallidum13.87
16.06
Gbf1RHPRetrohippocampal region44.31
42.42
Gbf1sAMYStriatum-like amygdalar nuclei8.21
6.71
Gbf1STRStriatum9.05
7.96
Gbf1STRdStriatum dorsal region10.06
9.01
Gbf1STRvStriatum ventral region8.31
6.61
Gbf1THThalamus30.91
33.02
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GBF1_HUMAN_1125 12 1125 1136 FLQLESLQELMK PRIDE
GBF1_HUMAN_1600 17 1600 1616 LLENISPADVGGMEETR PRIDE
GBF1_HUMAN_1673 18 1673 1690 NMLLVMDTAEIFHSADAR PRIDE
GBF1_HUMAN_1750 26 1750 1775 TPGHPPPPEIPSELGACDFEKPESPR PRIDE
GBF1_HUMAN_844 12 844 855 KQNAPMTLEEFR PRIDE
GBF1_HUMAN_845 11 845 855 QNAPMTLEEFR PRIDE
GBF1_HUMAN_881 15 881 895 NEEIVMPEEQTGLVR PRIDE
PAp00007103 17 659 675 SGCSDLEEAVDSGADKK 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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