AutismKB 2.0

Annotation Detail for GEMIN5


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GEMIN5 ( DKFZp586M1824,MGC142174 )
Gene Full Name: gem (nuclear organelle) associated protein 5
Band: 5q33.2
Quick LinksEntrez ID:25929; OMIM: 607005; Uniprot ID:GEMI5_HUMAN; ENSEMBL ID: ENSG00000082516; HGNC ID: 20043
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
blastocyst2 / 6231932
fetus24 / 56401242
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult67 / 193912134
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor26 / 26384598
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor8 / 9635983
lung tumor0 / 1031270 
lymphoma8 / 71755111
non-neoplasia0 / 972500 
normal102 / 336030730
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites4 / 4001599
bladder2 / 2975767
blood7 / 12347856
bone3 / 7165541
bone marrow2 / 4880140
brain36 / 110098932
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine5 / 23447221
kidney6 / 21177728
larynx0 / 241450 
liver9 / 20774343
lung8 / 33697423
lymph7 / 44270158
lymph node5 / 9161054
mammary gland3 / 15327119
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary5 / 10205148
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta2 / 2808257
prostate5 / 18934526
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach2 / 9661920
testis18 / 33044254
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6628_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
Amygdala4.78 ± 0.54
Basal Forebrain4.59 ± 0.39
Basal Part of Pons4.19 ± 0.46
Cerebellar Cortex4.62 ± 0.33
Cerebellar Nuclei4.52 ± 0.48
Claustrum4.58 ± 0.67
Epithalamus4.81 ± 0.3
Frontal Lobe4.4 ± 0.47
Globus Pallidus4.78 ± 0.4
Hypothalamus4.86 ± 0.55
Insula4.53 ± 0.61
Limbic Lobe4.66 ± 0.45
Mesencephalon4.73 ± 0.41
Myelencephalon4.55 ± 0.49
Occipital Lobe4.92 ± 0.41
Parietal Lobe4.48 ± 0.46
Pontine Tegmentum4.64 ± 0.48
Striatum4.9 ± 0.43
Subthalamus4.46 ± 0.42
Temporal Lobe4.54 ± 0.44
Thalamus4.48 ± 0.54
White Matter5.39 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gemin5CBCerebellum2.53
2.62
Gemin5CTXCerebral cortex1.9
1.48
Gemin5HIPHippocampal region3.77
3.39
Gemin5HPFHippocampal formation2.84
2.46
Gemin5HYHypothalamus1.34
1.17
Gemin5LSXLateral septal complex1.82
1.32
Gemin5MBMidbrain0.96
1.1
Gemin5MYMedulla5.63
5.35
Gemin5OLFOlfactory bulb2.49
1.73
Gemin5PPons1.42
1.72
Gemin5PALPallidum1.69
2.17
Gemin5RHPRetrohippocampal region1.4
1.24
Gemin5sAMYStriatum-like amygdalar nuclei0.97
1.18
Gemin5STRStriatum1.2
1.2
Gemin5STRdStriatum dorsal region1.11
1.25
Gemin5STRvStriatum ventral region1.3
0.79
Gemin5THThalamus1.28
1.19
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002729 14 239 252 GCYLATGSKDQTIR 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