AutismKB 2.0

Annotation Detail for GEMIN4


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Basic Information Top
Gene Symbol:GEMIN4 ( DKFZp434B131,DKFZp434D174,HC56,HCAP1,HHRF-1,p97 )
Gene Full Name: gem (nuclear organelle) associated protein 4
Band: 17p13.3
Quick LinksEntrez ID:50628; OMIM: 606969; Uniprot ID:Q8WUM5_HUMAN; ENSEMBL ID: ENSG00000179409; HGNC ID: 15717
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 body2 / 7076128
blastocyst5 / 6231980
fetus27 / 56401247
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult65 / 193912133
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) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor12 / 26384545
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor9 / 9635993
lung tumor12 / 103127116
lymphoma13 / 71755181
non-neoplasia1 / 9725010
normal105 / 336030731
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer5 / 10268048
retinoblastoma7 / 46356151
skin tumor3 / 12494924
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood5 / 12347840
bone3 / 7165541
bone marrow0 / 488010 
brain23 / 110098920
cervix9 / 48171186
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye11 / 21105452
heart8 / 8962689
intestine8 / 23447234
kidney11 / 21177751
larynx1 / 2414541
liver12 / 20774357
lung19 / 33697456
lymph12 / 44270271
lymph node6 / 9161065
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary5 / 10205148
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate9 / 18934547
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis49 / 330442148
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217099_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts23.1
Adipocyte3.1
AdrenalCortex3.2
Adrenalgland2.6
Amygdala3.3
Appendix3.1
AtrioventricularNode2.35
BDCA4+_DentriticCells5.3
Bonemarrow3.05
BronchialEpithelialCells3.4
CD105+_Endothelial3.35
CD14+_Monocytes3.7
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid4.3
CD34+13.2
CD4+_Tcells4.05
CD56+_NKCells6.6
CD71+_EarlyErythroid2.9
CD8+_Tcells3.1
CardiacMyocytes4.2
Caudatenucleus2.8
Cerebellum2.55
CerebellumPeduncles3.5
CiliaryGanglion2.15
CingulateCortex3.15
Colorectaladenocarcinoma8.35
DorsalRootGanglion2.35
FetalThyroid3.05
Fetalbrain3.15
Fetalliver2.65
Fetallung2.65
GlobusPallidus2.25
Heart3.9
Hypothalamus3.45
Kidney2.5
Leukemia_chronicMyelogenousK-5622.85
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)3.25
Liver4.1
Lung3.5
Lymphnode2.7
Lymphoma_burkitts(Daudi)10.2
Lymphoma_burkitts(Raji)4.35
MedullaOblongata2.9
OccipitalLobe2.8
OlfactoryBulb2.45
Ovary2.05
Pancreas2.5
PancreaticIslet3.3
ParietalLobe3.25
Pituitary3.65
Placenta3.25
Pons2.95
PrefrontalCortex3.95
Prostate3.7
Salivarygland2.5
SkeletalMuscle3.5
Skin2.35
SmoothMuscle3.6
Spinalcord3.3
SubthalamicNucleus2.8
SuperiorCervicalGanglion3.45
TemporalLobe2.85
Testis80.55
TestisGermCell23.4
TestisIntersitial65.3
TestisLeydigCell17.4
TestisSeminiferousTubule12.65
Thalamus3.15
Thymus2.5
Thyroid4
Tongue3
Tonsil3.05
Trachea2.6
TrigeminalGanglion3.05
Uterus2.55
UterusCorpus2.75
WholeBlood3.45
Wholebrain2.75
colon3.15
pineal_day3.9
pineal_night3.82
retina3.775
small_intestine3.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P66872
  • 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
Amygdala5.07 ± 0.48
Basal Forebrain5.44 ± 0.39
Basal Part of Pons5.7 ± 0.21
Cerebellar Cortex5.74 ± 0.21
Cerebellar Nuclei5.46 ± 0.38
Claustrum5.05 ± 0.51
Epithalamus5.93 ± 0.35
Frontal Lobe5.46 ± 0.36
Globus Pallidus4.83 ± 0.27
Hypothalamus5.69 ± 0.5
Insula5.52 ± 0.23
Limbic Lobe5.29 ± 0.41
Mesencephalon5.24 ± 0.53
Myelencephalon5.34 ± 0.49
Occipital Lobe5.05 ± 0.44
Parietal Lobe5.3 ± 0.34
Pontine Tegmentum5.28 ± 0.38
Striatum4.8 ± 0.35
Subthalamus5.77 ± 1.31
Temporal Lobe5.48 ± 0.47
Thalamus5.26 ± 0.33
White Matter4.88 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gemin4CBCerebellum2.37
3.48
Gemin4CTXCerebral cortex2.16
2.19
Gemin4HIPHippocampal region3.42
3.5
Gemin4HPFHippocampal formation2.46
2.51
Gemin4HYHypothalamus0.91
1
Gemin4LSXLateral septal complex1.67
2.13
Gemin4MBMidbrain1.21
1.55
Gemin4MYMedulla2.38
2.6
Gemin4OLFOlfactory bulb2.84
3.03
Gemin4PPons1.21
1.54
Gemin4PALPallidum0.49
0.51
Gemin4RHPRetrohippocampal region1.17
1.03
Gemin4sAMYStriatum-like amygdalar nuclei1.48
1.36
Gemin4STRStriatum0.83
0.83
Gemin4STRdStriatum dorsal region0.51
0.52
Gemin4STRvStriatum ventral region1.1
1.03
Gemin4THThalamus1.03
1.07
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00026645 18 308 325 LPSETIFVGCEFLHHLLR 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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