AutismKB 2.0

Annotation Detail for JOSD1


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Basic Information Top
Gene Symbol:JOSD1 ( KIAA0063,dJ508I15.2 )
Gene Full Name: Josephin domain containing 1
Band: 22q13.1
Quick LinksEntrez ID:9929; OMIM: NA; Uniprot ID:JOS1_HUMAN; ENSEMBL ID: ENSG00000100221; HGNC ID: 28953
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 body5 / 7076170
blastocyst6 / 6231996
fetus46 / 56401281
neonate2 / 3109764
infant2 / 2362084
juvenile3 / 5555653
adult106 / 193912154
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma4 / 17475228
breast (mammary gland) tumor8 / 9417884
cervical tumor5 / 34366145
chondrosarcoma4 / 8282348
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor13 / 119369108
germ cell tumor14 / 26384553
glioma8 / 10688374
head and neck tumor5 / 13630236
kidney tumor6 / 6895987
leukemia3 / 9584231
liver tumor5 / 9635951
lung tumor6 / 10312758
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal194 / 336030757
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma2 / 4635643
skin tumor10 / 12494980
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland5 / 33197150
ascites6 / 40015149
bladder5 / 29757168
blood4 / 12347832
bone3 / 7165541
bone marrow3 / 4880161
brain52 / 110098947
cervix5 / 48171103
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus1 / 2020949
eye11 / 21105452
heart6 / 8962666
intestine23 / 23447298
kidney15 / 21177770
larynx1 / 2414541
liver7 / 20774333
lung26 / 33697477
lymph0 / 442700 
lymph node5 / 9161054
mammary gland14 / 15327191
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary3 / 10205129
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta5 / 28082517
prostate7 / 18934536
salivary gland3 / 20155148
skin13 / 21057461
spleen4 / 5395274
stomach10 / 96619103
testis15 / 33044245
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
uterus16 / 23287868
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201751_at
Cell line Expression level Expression bar
721_B_lymphoblasts187.1
Adipocyte18
AdrenalCortex21
Adrenalgland13.9
Amygdala63.6
Appendix11.05
AtrioventricularNode9.35
BDCA4+_DentriticCells150.25
Bonemarrow39.2
BronchialEpithelialCells33.9
CD105+_Endothelial54.6
CD14+_Monocytes69.25
CD19+_BCells(neg._sel.)260.75
CD33+_Myeloid92.4
CD34+134.55
CD4+_Tcells221.9
CD56+_NKCells326.25
CD71+_EarlyErythroid175.45
CD8+_Tcells214.2
CardiacMyocytes27.55
Caudatenucleus23.6
Cerebellum44.05
CerebellumPeduncles32.2
CiliaryGanglion8.1
CingulateCortex37.25
Colorectaladenocarcinoma79.55
DorsalRootGanglion9.05
FetalThyroid19.8
Fetalbrain82.15
Fetalliver11.4
Fetallung49.55
GlobusPallidus9.15
Heart14.9
Hypothalamus30.7
Kidney10.45
Leukemia_chronicMyelogenousK-56215.75
Leukemia_promyelocytic-HL-6032.1
Leukemialymphoblastic(MOLT-4)40.25
Liver17.9
Lung54.05
Lymphnode39.45
Lymphoma_burkitts(Daudi)67.8
Lymphoma_burkitts(Raji)24.3
MedullaOblongata40.8
OccipitalLobe45.95
OlfactoryBulb20.75
Ovary16.95
Pancreas11.7
PancreaticIslet25.25
ParietalLobe31.9
Pituitary22.45
Placenta48.9
Pons18.15
PrefrontalCortex99.3
Prostate29.45
Salivarygland11.6
SkeletalMuscle13.6
Skin9.7
SmoothMuscle47.85
Spinalcord23.65
SubthalamicNucleus13.2
SuperiorCervicalGanglion10.15
TemporalLobe54.85
Testis27.95
TestisGermCell20.5
TestisIntersitial18.7
TestisLeydigCell13.35
TestisSeminiferousTubule21.6
Thalamus22.2
Thymus66.95
Thyroid26.45
Tongue16.95
Tonsil13.55
Trachea19.6
TrigeminalGanglion12.5
Uterus49.45
UterusCorpus11.1
WholeBlood54.35
Wholebrain100.7
colon82.65
pineal_day75.24
pineal_night78.54
retina64.125
small_intestine195.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P6474
  • 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
Amygdala4.58 ± 0.58
Basal Forebrain3.96 ± 0.27
Basal Part of Pons4.82 ± 0.48
Cerebellar Cortex4.68 ± 0.34
Cerebellar Nuclei4.18 ± 0.56
Claustrum4.37 ± 0.69
Epithalamus4.12 ± 0.78
Frontal Lobe4.52 ± 0.51
Globus Pallidus3.34 ± 0.56
Hypothalamus4.03 ± 0.51
Insula4.62 ± 0.24
Limbic Lobe4.4 ± 0.57
Mesencephalon4.37 ± 0.6
Myelencephalon4.37 ± 0.6
Occipital Lobe4.37 ± 0.57
Parietal Lobe4.5 ± 0.52
Pontine Tegmentum4.32 ± 0.66
Striatum3.69 ± 0.65
Subthalamus4.18 ± 0.73
Temporal Lobe4.57 ± 0.46
Thalamus4.3 ± 0.64
White Matter3.35 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Josd1CBCerebellum31.95
34.58
Josd1CTXCerebral cortex99.3
86.23
Josd1HIPHippocampal region42.58
76.68
Josd1HPFHippocampal formation50.02
67.08
Josd1HYHypothalamus20.86
16.22
Josd1LSXLateral septal complex48.5
37.81
Josd1MBMidbrain29.13
26.11
Josd1MYMedulla37.84
42.63
Josd1OLFOlfactory bulb57.72
52.11
Josd1PPons32.6
35.55
Josd1PALPallidum26.92
23.26
Josd1RHPRetrohippocampal region65.97
55.5
Josd1sAMYStriatum-like amygdalar nuclei48.52
37.52
Josd1STRStriatum78.13
61.61
Josd1STRdStriatum dorsal region87.19
68.96
Josd1STRvStriatum ventral region80.99
63.69
Josd1THThalamus45.74
38.88
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
JOS1_HUMAN_0 0 0 0 MPEWIGGESELRK PRIDE

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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