AutismKB 2.0

Annotation Detail for GPATCH2


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Basic Information Top
Gene Symbol:GPATCH2 ( CT110,FLJ10252,FLJ21048,GPATC2,MGC74998,RP11-361K17.1 )
Gene Full Name: G patch domain containing 2
Band: 1q41
Quick LinksEntrez ID:55105; OMIM: NA; Uniprot ID:GPTC2_HUMAN; ENSEMBL ID: ENSG00000092978; HGNC ID: 25499
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 body3 / 7076142
blastocyst1 / 6231916
fetus30 / 56401253
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult92 / 193912147
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor20 / 26384575
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal135 / 336030740
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone2 / 7165527
bone marrow1 / 4880120
brain24 / 110098921
cervix1 / 4817120
connective tissue17 / 149255113
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye6 / 21105428
heart5 / 8962655
intestine11 / 23447246
kidney9 / 21177742
larynx0 / 241450 
liver10 / 20774348
lung10 / 33697429
lymph0 / 442700 
lymph node8 / 9161087
mammary gland6 / 15327139
mouth2 / 6705229
muscle8 / 10771574
nerve1 / 1576863
ovary4 / 10205139
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta21 / 28082574
prostate8 / 18934542
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach2 / 9661920
testis31 / 33044293
thymus10 / 81131123
thyroid1 / 4747321
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus5 / 23287821
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219078_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.85
Adipocyte3.7
AdrenalCortex3.9
Adrenalgland3.2
Amygdala4
Appendix3.8
AtrioventricularNode2.85
BDCA4+_DentriticCells4.75
Bonemarrow3.75
BronchialEpithelialCells3.75
CD105+_Endothelial3.8
CD14+_Monocytes4.1
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid4.85
CD34+5.05
CD4+_Tcells4.2
CD56+_NKCells4.65
CD71+_EarlyErythroid3.55
CD8+_Tcells3.75
CardiacMyocytes4.8
Caudatenucleus3.4
Cerebellum3.1
CerebellumPeduncles4.3
CiliaryGanglion2.65
CingulateCortex3.85
Colorectaladenocarcinoma3.8
DorsalRootGanglion2.9
FetalThyroid3.7
Fetalbrain3.8
Fetalliver3.3
Fetallung3.15
GlobusPallidus2.75
Heart4.8
Hypothalamus4.15
Kidney3.15
Leukemia_chronicMyelogenousK-5623.45
Leukemia_promyelocytic-HL-603.3
Leukemialymphoblastic(MOLT-4)3.05
Liver5
Lung4.2
Lymphnode3.25
Lymphoma_burkitts(Daudi)4.85
Lymphoma_burkitts(Raji)5.25
MedullaOblongata3.5
OccipitalLobe3.4
OlfactoryBulb3
Ovary2.55
Pancreas3.05
PancreaticIslet4.05
ParietalLobe3.95
Pituitary4.45
Placenta3.9
Pons3.6
PrefrontalCortex4.75
Prostate4.4
Salivarygland3
SkeletalMuscle4.4
Skin2.85
SmoothMuscle4.35
Spinalcord4.05
SubthalamicNucleus3.45
SuperiorCervicalGanglion4.25
TemporalLobe3.45
Testis3.5
TestisGermCell4.15
TestisIntersitial4.65
TestisLeydigCell3.9
TestisSeminiferousTubule5.45
Thalamus3.8
Thymus3
Thyroid4.8
Tongue3.7
Tonsil3.7
Trachea3.2
TrigeminalGanglion3.8
Uterus3.1
UterusCorpus3.4
WholeBlood4.2
Wholebrain3.3
colon3.8
pineal_day4.72
pineal_night4.64
retina4.55
small_intestine3.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1134_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
Amygdala5.7 ± 0.36
Basal Forebrain5.4 ± 0.36
Basal Part of Pons5.37 ± 0.36
Cerebellar Cortex4.92 ± 0.34
Cerebellar Nuclei4.97 ± 0.46
Claustrum5.94 ± 0.55
Epithalamus5.53 ± 0.6
Frontal Lobe5.42 ± 0.42
Globus Pallidus5.33 ± 0.51
Hypothalamus5.16 ± 0.62
Insula5.26 ± 0.27
Limbic Lobe5.64 ± 0.33
Mesencephalon5.41 ± 0.47
Myelencephalon5.37 ± 0.47
Occipital Lobe5.58 ± 0.42
Parietal Lobe5.62 ± 0.53
Pontine Tegmentum5.48 ± 0.47
Striatum5.53 ± 0.44
Subthalamus5.29 ± 0.85
Temporal Lobe5.45 ± 0.42
Thalamus5.36 ± 0.36
White Matter5.1 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gpatc2CBCerebellum1.69
1.55
Gpatc2CTXCerebral cortex0.23
0.33
Gpatc2HIPHippocampal region0.68
0.54
Gpatc2HPFHippocampal formation0.53
0.38
Gpatc2HYHypothalamus0.13
0.17
Gpatc2LSXLateral septal complex0.08
0.32
Gpatc2MBMidbrain0.14
0.33
Gpatc2MYMedulla0.3
0.33
Gpatc2OLFOlfactory bulb0.35
0.31
Gpatc2PPons0.11
0.1
Gpatc2PALPallidum0.02
0.01
Gpatc2RHPRetrohippocampal region0.27
0.16
Gpatc2sAMYStriatum-like amygdalar nuclei0.05
0.04
Gpatc2STRStriatum0.04
0.07
Gpatc2STRdStriatum dorsal region0.03
0.06
Gpatc2STRvStriatum ventral region0.06
0.04
Gpatc2THThalamus0.18
0.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GPTC2_HUMAN_291 17 291 307 ESGGACGITGVVPWWEK PRIDE
GPTC2_HUMAN_359 18 359 376 SGGTPTSMVPIPGPVGNK PRIDE
GPTC2_HUMAN_359 19 359 377 SGGTPTSMVPIPGPVGNKR PRIDE
GPTC2_HUMAN_427 15 427 441 QTSMHLGSLCTGDIK PRIDE
GPTC2_HUMAN_45 11 45 55 GGFAETGDHSR PRIDE
GPTC2_HUMAN_492 13 492 504 GISEPIQAMQRPK PRIDE
GPTC2_HUMAN_515 12 515 526 STSATTTPNAGK PRIDE
GPTC2_HUMAN_8 16 8 23 QPIGAPAAGNSWHFSR PRIDE

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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