AutismKB 2.0

Annotation Detail for GAB2


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Basic Information Top
Gene Symbol:GAB2 ( KIAA0571 )
Gene Full Name: GRB2-associated binding protein 2
Band: 11q14.1
Quick LinksEntrez ID:9846; OMIM: 606203; Uniprot ID:GAB2_HUMAN; ENSEMBL ID: ENSG00000033327; HGNC ID: 14458
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 body4 / 7076156
blastocyst0 / 623190 
fetus13 / 56401223
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult64 / 193912133
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor15 / 26384556
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal76 / 336030722
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor15 / 124949120
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain43 / 110098939
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine5 / 23447221
kidney3 / 21177714
larynx1 / 2414541
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary4 / 10205139
pancreas1 / 2148124
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta29 / 280825103
prostate1 / 1893455
salivary gland1 / 2015549
skin19 / 21057490
spleen2 / 5395237
stomach0 / 966190 
testis6 / 33044218
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203853_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.9
Adipocyte15
AdrenalCortex12.9
Adrenalgland11.45
Amygdala55.5
Appendix12.75
AtrioventricularNode11.6
BDCA4+_DentriticCells196.5
Bonemarrow14.45
BronchialEpithelialCells8.45
CD105+_Endothelial14.8
CD14+_Monocytes138.05
CD19+_BCells(neg._sel.)15.85
CD33+_Myeloid219.05
CD34+101.2
CD4+_Tcells10.4
CD56+_NKCells17.55
CD71+_EarlyErythroid9.2
CD8+_Tcells5.9
CardiacMyocytes15.95
Caudatenucleus49.4
Cerebellum11.9
CerebellumPeduncles21.1
CiliaryGanglion9
CingulateCortex38.65
Colorectaladenocarcinoma10.2
DorsalRootGanglion8.6
FetalThyroid10.35
Fetalbrain48.1
Fetalliver8.85
Fetallung14.35
GlobusPallidus22.5
Heart16.85
Hypothalamus124.8
Kidney9.25
Leukemia_chronicMyelogenousK-562118.35
Leukemia_promyelocytic-HL-609.45
Leukemialymphoblastic(MOLT-4)11.05
Liver17
Lung62.75
Lymphnode8.6
Lymphoma_burkitts(Daudi)15.35
Lymphoma_burkitts(Raji)14.95
MedullaOblongata52.75
OccipitalLobe67.1
OlfactoryBulb17.55
Ovary10.8
Pancreas11.05
PancreaticIslet15.7
ParietalLobe30.05
Pituitary17.1
Placenta58.3
Pons15.7
PrefrontalCortex121.5
Prostate12.2
Salivarygland11.85
SkeletalMuscle13.8
Skin8.9
SmoothMuscle34.8
Spinalcord94.9
SubthalamicNucleus23.8
SuperiorCervicalGanglion13.6
TemporalLobe17.5
Testis10.05
TestisGermCell9.75
TestisIntersitial9.95
TestisLeydigCell10.75
TestisSeminiferousTubule9.85
Thalamus87.05
Thymus34.95
Thyroid15.7
Tongue10.6
Tonsil9.85
Trachea11.3
TrigeminalGanglion11.6
Uterus47.75
UterusCorpus13.5
WholeBlood214.8
Wholebrain77.5
colon20.45
pineal_day16.44
pineal_night37.26
retina67.325
small_intestine20.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P98843
  • 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
Amygdala5.29 ± 0.53
Basal Forebrain5.85 ± 0.55
Basal Part of Pons5.32 ± 0.45
Cerebellar Cortex4.68 ± 0.4
Cerebellar Nuclei6 ± 0.56
Claustrum6.46 ± 0.88
Epithalamus5.44 ± 0.44
Frontal Lobe5.17 ± 0.8
Globus Pallidus6.78 ± 0.27
Hypothalamus5.39 ± 0.5
Insula5.11 ± 0.41
Limbic Lobe5.07 ± 0.76
Mesencephalon5.69 ± 0.61
Myelencephalon5.4 ± 0.62
Occipital Lobe5.35 ± 0.58
Parietal Lobe5.46 ± 0.65
Pontine Tegmentum5.22 ± 0.77
Striatum5.59 ± 0.64
Subthalamus5.13 ± 0.24
Temporal Lobe5.12 ± 0.59
Thalamus5.59 ± 0.52
White Matter7.39 ± 0.68
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gab2CBCerebellum5.32
6.84
Gab2CTXCerebral cortex8.86
6.41
Gab2HIPHippocampal region5.17
4.42
Gab2HPFHippocampal formation6.29
5.08
Gab2HYHypothalamus0.95
0.6
Gab2LSXLateral septal complex0.65
0.44
Gab2MBMidbrain2.48
2.37
Gab2MYMedulla4.92
4.76
Gab2OLFOlfactory bulb7.89
5.89
Gab2PPons3.01
3.19
Gab2PALPallidum2.73
2.05
Gab2RHPRetrohippocampal region8.55
6.24
Gab2sAMYStriatum-like amygdalar nuclei0.77
0.82
Gab2STRStriatum1.76
1.24
Gab2STRdStriatum dorsal region2.24
1.54
Gab2STRvStriatum ventral region1.14
0.82
Gab2THThalamus1.26
1.03
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GAB2_HUMAN_263 8 263 270 DSTYDLPR PRIDE
PAp00079351 15 651 665 TQALQNTMQEWTDVR 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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