AutismKB 2.0

Annotation Detail for GPNMB


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Basic Information Top
Gene Symbol:GPNMB ( HGFIN,NMB )
Gene Full Name: glycoprotein (transmembrane) nmb
Band: 7p15.3
Quick LinksEntrez ID:10457; OMIM: 604368; Uniprot ID:GPNMB_HUMAN; ENSEMBL ID: ENSG00000136235; HGNC ID: 4462
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 
blastocyst0 / 623190 
fetus42 / 56401274
neonate571 / 3109718361
infant0 / 236200 
juvenile9 / 55556161
adult379 / 1939121195
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma4 / 17475228
breast (mammary gland) tumor34 / 94178361
cervical tumor5 / 34366145
chondrosarcoma29 / 82823350
colorectal tumor6 / 11424652
esophageal tumor42 / 172902429
gastrointestinal tumor8 / 11936967
germ cell tumor20 / 26384575
glioma9 / 10688384
head and neck tumor420 / 1363023081
kidney tumor16 / 68959232
leukemia9 / 9584293
liver tumor12 / 96359124
lung tumor13 / 103127126
lymphoma11 / 71755153
non-neoplasia54 / 97250555
normal1751 / 3360307521
ovarian tumor0 / 766820 
pancreatic tumor19 / 104616181
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor50 / 124949400
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor21 / 90257232
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue6 / 13106457
adrenal gland6 / 33197180
ascites1 / 4001524
bladder20 / 29757672
blood628 / 1234785085
bone16 / 71655223
bone marrow1 / 4880120
brain290 / 1100989263
cervix12 / 48171249
connective tissue84 / 149255562
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus43 / 202092127
eye30 / 211054142
heart67 / 89626747
intestine57 / 234472243
kidney33 / 211777155
larynx13 / 24145538
liver15 / 20774372
lung61 / 336974181
lymph0 / 442700 
lymph node6 / 9161065
mammary gland52 / 153271339
mouth410 / 670526114
muscle9 / 10771583
nerve2 / 15768126
ovary5 / 10205148
pancreas32 / 214812148
parathyroid2 / 2053997
pharynx13 / 41328314
pituitary gland3 / 16585180
placenta98 / 280825348
prostate12 / 18934563
salivary gland0 / 201550 
skin121 / 210574574
spleen20 / 53952370
stomach16 / 96619165
testis23 / 33044269
thymus101 / 811311244
thyroid11 / 47473231
tonsil0 / 169990 
trachea25 / 52413476
umbilical cord2 / 13680146
uterus202 / 232878867
vascular14 / 51780270
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201141_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.4
Adipocyte1295.3
AdrenalCortex5
Adrenalgland4.4
Amygdala6.7
Appendix52.3
AtrioventricularNode7.55
BDCA4+_DentriticCells4.9
Bonemarrow4.75
BronchialEpithelialCells4.55
CD105+_Endothelial5.7
CD14+_Monocytes4.85
CD19+_BCells(neg._sel.)4.85
CD33+_Myeloid5.8
CD34+5.7
CD4+_Tcells4.9
CD56+_NKCells5.35
CD71+_EarlyErythroid4.25
CD8+_Tcells4.4
CardiacMyocytes5.85
Caudatenucleus4.2
Cerebellum3.75
CerebellumPeduncles5.25
CiliaryGanglion21.7
CingulateCortex6.95
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.75
FetalThyroid10.35
Fetalbrain4.55
Fetalliver3.95
Fetallung8.25
GlobusPallidus3.5
Heart199.4
Hypothalamus6.3
Kidney4.85
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.85
Leukemialymphoblastic(MOLT-4)3.65
Liver6.1
Lung191
Lymphnode954.9
Lymphoma_burkitts(Daudi)5.85
Lymphoma_burkitts(Raji)6.6
MedullaOblongata5.75
OccipitalLobe4.8
OlfactoryBulb76
Ovary3.1
Pancreas6.7
PancreaticIslet37.8
ParietalLobe4.85
Pituitary24
Placenta1482
Pons4.4
PrefrontalCortex9.8
Prostate9.35
Salivarygland552.3
SkeletalMuscle5.3
Skin403.15
SmoothMuscle9.35
Spinalcord87.3
SubthalamicNucleus4.25
SuperiorCervicalGanglion5.45
TemporalLobe4.35
Testis14.45
TestisGermCell80.15
TestisIntersitial9.15
TestisLeydigCell7.15
TestisSeminiferousTubule7.75
Thalamus5.15
Thymus222.6
Thyroid70.3
Tongue213.1
Tonsil277.55
Trachea114
TrigeminalGanglion5.5
Uterus262.05
UterusCorpus891.75
WholeBlood5
Wholebrain4.35
colon45.05
pineal_day1039.8
pineal_night1037.72
retina1375.65
small_intestine89.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16436_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
Amygdala2.66 ± 1.07
Basal Forebrain2.11 ± 0.26
Basal Part of Pons1.77 ± 0.28
Cerebellar Cortex1.96 ± 0.87
Cerebellar Nuclei2.43 ± 0.61
Claustrum3.24 ± 1.11
Epithalamus1.83 ± 0.84
Frontal Lobe2.04 ± 0.81
Globus Pallidus2.78 ± 0.36
Hypothalamus2.11 ± 0.68
Insula1.79 ± 0.49
Limbic Lobe2.13 ± 0.77
Mesencephalon2.3 ± 0.8
Myelencephalon2.1 ± 0.7
Occipital Lobe2.22 ± 0.74
Parietal Lobe2.08 ± 0.76
Pontine Tegmentum2.16 ± 0.72
Striatum2.3 ± 0.56
Subthalamus2.37 ± 0.82
Temporal Lobe2 ± 0.63
Thalamus2.05 ± 0.63
White Matter2.53 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GpnmbCBCerebellum100
100
GpnmbCTXCerebral cortex100
100
GpnmbHIPHippocampal region92.59
100
GpnmbHPFHippocampal formation96.17
100
GpnmbHYHypothalamus78.97
76.71
GpnmbLSXLateral septal complex89.49
83.3
GpnmbMBMidbrain76.56
76.19
GpnmbMYMedulla86.81
94.97
GpnmbOLFOlfactory bulb100
100
GpnmbPPons77.08
80.41
GpnmbPALPallidum74.82
80.31
GpnmbRHPRetrohippocampal region100
100
GpnmbsAMYStriatum-like amygdalar nuclei100
100
GpnmbSTRStriatum94.31
88.65
GpnmbSTRdStriatum dorsal region92.67
87.37
GpnmbSTRvStriatum ventral region96.02
88.35
GpnmbTHThalamus89.79
91.89
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GPNMB_HUMAN_0 0 0 0 DVYVVTDQIPVFVTMFQK PRIDE
GPNMB_HUMAN_169 17 169 185 RWNFIYVFHTLGQYFQK PRIDE
GPNMB_HUMAN_170 16 170 185 WNFIYVFHTLGQYFQK PRIDE
GPNMB_HUMAN_218 9 218 226 AYVPIAQVK PRIDE
GPNMB_HUMAN_227 18 227 244 DVYVVTDQIPVFVTMFQK PRIDE
PAp00429224 18 228 245 DVYVVTDQIPVFVTMFQK 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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