AutismKB 2.0

Annotation Detail for EXPH5


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Basic Information Top
Gene Symbol:EXPH5 ( DKFZp586F1223,DKFZp781H0795,KIAA0624,MGC133291,MGC134967,SLAC2-B,SLAC2B )
Gene Full Name: exophilin 5
Band: 11q22.3
Quick LinksEntrez ID:23086; OMIM: 612878; Uniprot ID:Q149M6_HUMAN; ENSEMBL ID: ENSG00000110723; HGNC ID: 30578
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 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult69 / 193912135
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal65 / 336030719
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
bladder2 / 2975767
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain15 / 110098913
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine12 / 23447251
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung16 / 33697447
lymph0 / 442700 
lymph node0 / 916100 
mammary gland7 / 15327145
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta33 / 280825117
prostate5 / 18934526
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213929_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.35
Adipocyte11.55
AdrenalCortex15.6
Adrenalgland11
Amygdala11.75
Appendix25.75
AtrioventricularNode19.7
BDCA4+_DentriticCells12.6
Bonemarrow15.45
BronchialEpithelialCells11
CD105+_Endothelial12
CD14+_Monocytes13.3
CD19+_BCells(neg._sel.)12.25
CD33+_Myeloid14.25
CD34+12.9
CD4+_Tcells12
CD56+_NKCells12.75
CD71+_EarlyErythroid12
CD8+_Tcells10.7
CardiacMyocytes19.35
Caudatenucleus11.45
Cerebellum34.1
CerebellumPeduncles41.7
CiliaryGanglion13.2
CingulateCortex14.35
Colorectaladenocarcinoma14.65
DorsalRootGanglion16.65
FetalThyroid12.55
Fetalbrain11.9
Fetalliver11.2
Fetallung9
GlobusPallidus11.65
Heart19.8
Hypothalamus13.2
Kidney12.45
Leukemia_chronicMyelogenousK-56210.85
Leukemia_promyelocytic-HL-6010.35
Leukemialymphoblastic(MOLT-4)9.25
Liver22.35
Lung13.4
Lymphnode9.9
Lymphoma_burkitts(Daudi)16.7
Lymphoma_burkitts(Raji)19.25
MedullaOblongata11.35
OccipitalLobe10.95
OlfactoryBulb9.95
Ovary10
Pancreas10.7
PancreaticIslet14
ParietalLobe15
Pituitary16.35
Placenta157.8
Pons15.35
PrefrontalCortex15.15
Prostate14.45
Salivarygland16.35
SkeletalMuscle24
Skin18.35
SmoothMuscle13.7
Spinalcord13.25
SubthalamicNucleus14.75
SuperiorCervicalGanglion31.05
TemporalLobe13
Testis10.6
TestisGermCell10.35
TestisIntersitial10.8
TestisLeydigCell13.9
TestisSeminiferousTubule11
Thalamus13.3
Thymus8.9
Thyroid14
Tongue23.3
Tonsil13
Trachea14.65
TrigeminalGanglion24.65
Uterus9.9
UterusCorpus16.2
WholeBlood12.65
Wholebrain9.15
colon20.85
pineal_day14.34
pineal_night13.96
retina15.425
small_intestine11.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P403335
  • 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
Amygdala5.6 ± 0.41
Basal Forebrain5.97 ± 0.39
Basal Part of Pons6.1 ± 0.59
Cerebellar Cortex7.19 ± 0.54
Cerebellar Nuclei6.12 ± 0.46
Claustrum7.07 ± 0.54
Epithalamus8.48 ± 1
Frontal Lobe5.95 ± 0.63
Globus Pallidus5.36 ± 0.56
Hypothalamus6.19 ± 0.87
Insula5.92 ± 0.42
Limbic Lobe5.8 ± 1.1
Mesencephalon6.27 ± 0.62
Myelencephalon6.12 ± 0.86
Occipital Lobe7.03 ± 0.79
Parietal Lobe5.98 ± 0.7
Pontine Tegmentum5.86 ± 0.84
Striatum6.16 ± 0.92
Subthalamus6.75 ± 0.52
Temporal Lobe6.29 ± 0.56
Thalamus5.78 ± 0.61
White Matter4.09 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Exph5CBCerebellum26.27
25.98
Exph5CTXCerebral cortex8.35
2.7
Exph5HIPHippocampal region0.64
0.38
Exph5HPFHippocampal formation0.55
0.31
Exph5HYHypothalamus0.04
0.05
Exph5LSXLateral septal complex0.04
0.05
Exph5MBMidbrain0.21
0.22
Exph5MYMedulla0.81
0.52
Exph5OLFOlfactory bulb1.37
0.57
Exph5PPons0.34
0.37
Exph5PALPallidum0.06
0.03
Exph5RHPRetrohippocampal region0.5
0.26
Exph5sAMYStriatum-like amygdalar nuclei0.06
0.02
Exph5STRStriatum0.12
0.09
Exph5STRdStriatum dorsal region0.1
0.08
Exph5STRvStriatum ventral region0.22
0.16
Exph5THThalamus0.28
0.19
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


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