AutismKB 2.0

Annotation Detail for GIGYF1


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Basic Information Top
Gene Symbol:GIGYF1 ( GYF1,PERQ1 )
Gene Full Name: GRB10 interacting GYF protein 1
Band: 7q22.1
Quick LinksEntrez ID:64599; OMIM: 612064; Uniprot ID:PERQ1_HUMAN; ENSEMBL ID: ENSG00000146830; HGNC ID: 9126
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 body0 / 707610 
blastocyst6 / 6231996
fetus16 / 56401228
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult74 / 193912138
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor6 / 26384522
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal89 / 336030726
ovarian tumor5 / 7668265
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood5 / 12347840
bone2 / 7165527
bone marrow1 / 4880120
brain18 / 110098916
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye11 / 21105452
heart2 / 8962622
intestine3 / 23447212
kidney1 / 2117774
larynx1 / 2414541
liver0 / 2077430 
lung20 / 33697459
lymph0 / 442700 
lymph node5 / 9161054
mammary gland6 / 15327139
mouth0 / 670520 
muscle0 / 1077150 
nerve2 / 15768126
ovary8 / 10205178
pancreas7 / 21481232
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta5 / 28082517
prostate10 / 18934552
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach2 / 9661920
testis3 / 3304429
thymus1 / 8113112
thyroid5 / 47473105
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P231173
  • 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
Amygdala5.58 ± 0.59
Basal Forebrain5.37 ± 0.28
Basal Part of Pons5.48 ± 0.64
Cerebellar Cortex5.73 ± 0.46
Cerebellar Nuclei5.3 ± 0.39
Claustrum5.52 ± 0.66
Epithalamus5.13 ± 0.87
Frontal Lobe5.2 ± 0.49
Globus Pallidus5.35 ± 0.57
Hypothalamus5.28 ± 0.46
Insula5.11 ± 0.65
Limbic Lobe5.33 ± 0.53
Mesencephalon5.3 ± 0.54
Myelencephalon5.35 ± 0.54
Occipital Lobe5.5 ± 0.42
Parietal Lobe5.25 ± 0.46
Pontine Tegmentum5.05 ± 0.47
Striatum5.22 ± 0.54
Subthalamus5.42 ± 0.62
Temporal Lobe5.24 ± 0.47
Thalamus5.27 ± 0.52
White Matter5.78 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Perq1CBCerebellum19.17
17.77
Perq1CTXCerebral cortex60.85
39.43
Perq1HIPHippocampal region46.19
47.43
Perq1HPFHippocampal formation51.08
45.5
Perq1HYHypothalamus28.48
18.48
Perq1LSXLateral septal complex20.25
12.03
Perq1MBMidbrain35.96
26.07
Perq1MYMedulla38.55
29.51
Perq1OLFOlfactory bulb58.12
43.15
Perq1PPons31.24
23.03
Perq1PALPallidum24.93
17.27
Perq1RHPRetrohippocampal region59.05
42.32
Perq1sAMYStriatum-like amygdalar nuclei33.26
20.34
Perq1STRStriatum25.79
16.21
Perq1STRdStriatum dorsal region25.18
16.26
Perq1STRvStriatum ventral region26.12
15.68
Perq1THThalamus35.77
23.54
Peptide Top

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