AutismKB 2.0

Annotation Detail for GIGYF2


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Basic Information Top
Gene Symbol:GIGYF2 ( DKFZp686I15154,DKFZp686J17223,FLJ23368,GYF2,KIAA0642,PARK11,PERQ2,PERQ3,TNRC15 )
Gene Full Name: GRB10 interacting GYF protein 2
Band: 2q37.1
Quick LinksEntrez ID:26058; OMIM: 612003; Uniprot ID:PERQ2_HUMAN; ENSEMBL ID: ENSG00000204120; HGNC ID: 11960
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
blastocyst7 / 62319112
fetus63 / 564012111
neonate1 / 3109732
infant1 / 2362042
juvenile0 / 555560 
adult160 / 193912182
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor15 / 114246131
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor30 / 263845113
glioma6 / 10688356
head and neck tumor10 / 13630273
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma4 / 7175555
non-neoplasia5 / 9725051
normal277 / 336030782
ovarian tumor4 / 7668252
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma5 / 46356107
skin tumor5 / 12494940
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites1 / 4001524
bladder2 / 2975767
blood6 / 12347848
bone5 / 7165569
bone marrow1 / 4880120
brain85 / 110098977
cervix0 / 481710 
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye18 / 21105485
heart4 / 8962644
intestine25 / 234472106
kidney12 / 21177756
larynx4 / 24145165
liver23 / 207743110
lung15 / 33697444
lymph4 / 4427090
lymph node3 / 9161032
mammary gland10 / 15327165
mouth10 / 67052149
muscle11 / 107715102
nerve0 / 157680 
ovary6 / 10205158
pancreas11 / 21481251
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta20 / 28082571
prostate10 / 18934552
salivary gland2 / 2015599
skin10 / 21057447
spleen3 / 5395255
stomach10 / 96619103
testis65 / 330442196
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord1 / 1368073
uterus10 / 23287842
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212261_at
Cell line Expression level Expression bar
721_B_lymphoblasts125.25
Adipocyte44.1
AdrenalCortex47.2
Adrenalgland44.6
Amygdala51.8
Appendix77
AtrioventricularNode34.35
BDCA4+_DentriticCells59.6
Bonemarrow42.6
BronchialEpithelialCells35.9
CD105+_Endothelial91.8
CD14+_Monocytes90.05
CD19+_BCells(neg._sel.)53.45
CD33+_Myeloid85.5
CD34+111.2
CD4+_Tcells99.7
CD56+_NKCells76.15
CD71+_EarlyErythroid104.95
CD8+_Tcells107.45
CardiacMyocytes59.4
Caudatenucleus48.7
Cerebellum60.1
CerebellumPeduncles64.95
CiliaryGanglion32.65
CingulateCortex66.6
Colorectaladenocarcinoma40.05
DorsalRootGanglion33.4
FetalThyroid47.7
Fetalbrain51.35
Fetalliver42.85
Fetallung37.35
GlobusPallidus31.45
Heart55.55
Hypothalamus53.3
Kidney38.05
Leukemia_chronicMyelogenousK-56254.1
Leukemia_promyelocytic-HL-6042.25
Leukemialymphoblastic(MOLT-4)38.05
Liver68.05
Lung50.55
Lymphnode33.2
Lymphoma_burkitts(Daudi)54.1
Lymphoma_burkitts(Raji)69.1
MedullaOblongata82.25
OccipitalLobe38.4
OlfactoryBulb42.3
Ovary27.45
Pancreas34.75
PancreaticIslet49.1
ParietalLobe59.1
Pituitary71.4
Placenta47.2
Pons55.95
PrefrontalCortex121.6
Prostate108.75
Salivarygland52.4
SkeletalMuscle67.65
Skin41.2
SmoothMuscle44.4
Spinalcord50.4
SubthalamicNucleus55.05
SuperiorCervicalGanglion99.85
TemporalLobe41.7
Testis54.95
TestisGermCell91.6
TestisIntersitial54.7
TestisLeydigCell49.85
TestisSeminiferousTubule50.85
Thalamus53.7
Thymus27.85
Thyroid56.85
Tongue48.05
Tonsil41.4
Trachea37.25
TrigeminalGanglion59.45
Uterus64.85
UterusCorpus41.75
WholeBlood50.05
Wholebrain42.35
colon63.95
pineal_day158.76
pineal_night101.76
retina60.125
small_intestine65.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P271985
  • 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
Amygdala9.07 ± 0.25
Basal Forebrain9.41 ± 0.13
Basal Part of Pons9.33 ± 0.19
Cerebellar Cortex9.38 ± 0.25
Cerebellar Nuclei9.36 ± 0.28
Claustrum9.03 ± 0.28
Epithalamus9.52 ± 0.35
Frontal Lobe9.24 ± 0.28
Globus Pallidus9.74 ± 0.18
Hypothalamus9.21 ± 0.35
Insula9.26 ± 0.37
Limbic Lobe9.3 ± 0.27
Mesencephalon9.35 ± 0.28
Myelencephalon9.29 ± 0.25
Occipital Lobe9.48 ± 0.23
Parietal Lobe9.31 ± 0.22
Pontine Tegmentum9.25 ± 0.28
Striatum9.37 ± 0.27
Subthalamus9.09 ± 0.15
Temporal Lobe9.27 ± 0.24
Thalamus9.35 ± 0.24
White Matter9.76 ± 0.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tnrc15CBCerebellum20.03
24.7
Tnrc15CTXCerebral cortex35.98
23.87
Tnrc15HIPHippocampal region22.28
25.51
Tnrc15HPFHippocampal formation20.6
20.3
Tnrc15HYHypothalamus15.16
10.86
Tnrc15LSXLateral septal complex19.79
13.77
Tnrc15MBMidbrain15.94
13.33
Tnrc15MYMedulla17.94
18.9
Tnrc15OLFOlfactory bulb39.48
29.75
Tnrc15PPons17.27
16.01
Tnrc15PALPallidum21.27
16.74
Tnrc15RHPRetrohippocampal region15.89
11.42
Tnrc15sAMYStriatum-like amygdalar nuclei26.16
18.43
Tnrc15STRStriatum23.5
15.73
Tnrc15STRdStriatum dorsal region23.55
15.82
Tnrc15STRvStriatum ventral region23.7
14.95
Tnrc15THThalamus27.64
20.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011240 15 571 585 RACDESFQPLGDIMK 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