AutismKB 2.0

Annotation Detail for GAPVD1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GAPVD1 ( DKFZp434C212,GAPEX5,KIAA1521,MGC138847,MGC138848,RAP6 )
Gene Full Name: GTPase activating protein and VPS9 domains 1
Band: 9q33.3
Quick LinksEntrez ID:26130; OMIM: 611714; Uniprot ID:GAPD1_HUMAN; ENSEMBL ID: ENSG00000165219; HGNC ID: 23375
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 body8 / 70761113
blastocyst3 / 6231948
fetus38 / 56401267
neonate2 / 3109764
infant2 / 2362084
juvenile2 / 5555635
adult98 / 193912150
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 tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor19 / 26384572
glioma1 / 1068839
head and neck tumor17 / 136302124
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal153 / 336030745
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood4 / 12347832
bone5 / 7165569
bone marrow1 / 4880120
brain32 / 110098929
cervix1 / 4817120
connective tissue6 / 14925540
ear3 / 16212185
embryonic tissue15 / 21572269
esophagus1 / 2020949
eye11 / 21105452
heart0 / 896260 
intestine4 / 23447217
kidney4 / 21177718
larynx2 / 2414582
liver8 / 20774338
lung8 / 33697423
lymph0 / 442700 
lymph node6 / 9161065
mammary gland4 / 15327126
mouth13 / 67052193
muscle5 / 10771546
nerve0 / 157680 
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate8 / 18934542
salivary gland0 / 201550 
skin11 / 21057452
spleen2 / 5395237
stomach4 / 9661941
testis24 / 33044272
thymus4 / 8113149
thyroid5 / 47473105
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord1 / 1368073
uterus14 / 23287860
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214869_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.55
Adipocyte5.3
AdrenalCortex5.6
Adrenalgland4.45
Amygdala5.6
Appendix6.35
AtrioventricularNode4
BDCA4+_DentriticCells9.95
Bonemarrow5.2
BronchialEpithelialCells5.85
CD105+_Endothelial11.2
CD14+_Monocytes6.35
CD19+_BCells(neg._sel.)11.95
CD33+_Myeloid12.3
CD34+16.95
CD4+_Tcells10.85
CD56+_NKCells12.35
CD71+_EarlyErythroid131.75
CD8+_Tcells8.7
CardiacMyocytes6.95
Caudatenucleus4.65
Cerebellum4.35
CerebellumPeduncles5.95
CiliaryGanglion3.7
CingulateCortex5.5
Colorectaladenocarcinoma5.25
DorsalRootGanglion4.15
FetalThyroid5.1
Fetalbrain5.65
Fetalliver5.55
Fetallung5.3
GlobusPallidus3.85
Heart6.85
Hypothalamus5.65
Kidney4.25
Leukemia_chronicMyelogenousK-5629.15
Leukemia_promyelocytic-HL-605.3
Leukemialymphoblastic(MOLT-4)7.4
Liver6.85
Lung5.9
Lymphnode4.5
Lymphoma_burkitts(Daudi)6.7
Lymphoma_burkitts(Raji)7.3
MedullaOblongata5.1
OccipitalLobe4.65
OlfactoryBulb5.1
Ovary4.15
Pancreas4.25
PancreaticIslet5.6
ParietalLobe5.6
Pituitary6.05
Placenta5.4
Pons5
PrefrontalCortex6.5
Prostate7.1
Salivarygland4.25
SkeletalMuscle6.15
Skin5.8
SmoothMuscle5.9
Spinalcord5.55
SubthalamicNucleus4.8
SuperiorCervicalGanglion9.15
TemporalLobe4.8
Testis8.7
TestisGermCell11.7
TestisIntersitial6.8
TestisLeydigCell6.9
TestisSeminiferousTubule6.8
Thalamus5.2
Thymus4.3
Thyroid6.5
Tongue5.15
Tonsil6.05
Trachea4.35
TrigeminalGanglion5.3
Uterus4.35
UterusCorpus4.8
WholeBlood5.8
Wholebrain4.75
colon5.2
pineal_day9.3
pineal_night8.92
retina6.325
small_intestine5.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P306209
  • 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
Amygdala6.88 ± 0.2
Basal Forebrain6.69 ± 0.15
Basal Part of Pons6.96 ± 0.16
Cerebellar Cortex7.03 ± 0.12
Cerebellar Nuclei6.81 ± 0.39
Claustrum6.7 ± 0.32
Epithalamus6.9 ± 0.18
Frontal Lobe6.86 ± 0.26
Globus Pallidus6.84 ± 0.18
Hypothalamus6.72 ± 0.22
Insula6.76 ± 0.22
Limbic Lobe6.86 ± 0.24
Mesencephalon6.87 ± 0.26
Myelencephalon6.82 ± 0.27
Occipital Lobe7.03 ± 0.25
Parietal Lobe6.91 ± 0.21
Pontine Tegmentum6.86 ± 0.28
Striatum6.46 ± 0.19
Subthalamus6.92 ± 0.1
Temporal Lobe6.83 ± 0.21
Thalamus7.01 ± 0.23
White Matter7.37 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gapvd1CBCerebellum42.61
52.2
Gapvd1CTXCerebral cortex100
100
Gapvd1HIPHippocampal region69.58
100
Gapvd1HPFHippocampal formation73.49
92.66
Gapvd1HYHypothalamus42.72
34.43
Gapvd1LSXLateral septal complex48.42
35.84
Gapvd1MBMidbrain52.41
46.04
Gapvd1MYMedulla34.83
35.14
Gapvd1OLFOlfactory bulb100
90.67
Gapvd1PPons45.32
44.33
Gapvd1PALPallidum53.61
50.26
Gapvd1RHPRetrohippocampal region80.54
69.82
Gapvd1sAMYStriatum-like amygdalar nuclei77.99
61.26
Gapvd1STRStriatum69.37
52.48
Gapvd1STRdStriatum dorsal region72.97
55.9
Gapvd1STRvStriatum ventral region60.43
42.68
Gapvd1THThalamus76.26
72.18
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064255 18 387 404 AVETPPLSSVNLLEGLSR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved