AutismKB 2.0

Annotation Detail for JMJD1C


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Basic Information Top
Gene Symbol:JMJD1C ( DKFZp761F0118,FLJ14374,KIAA1380,RP11-10C13.2,TRIP8 )
Gene Full Name: jumonji domain containing 1C
Band: 10q21.3
Quick LinksEntrez ID:221037; OMIM: 604503; Uniprot ID:JHD2C_HUMAN; ENSEMBL ID: ENSG00000171988; HGNC ID: 12313
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
blastocyst11 / 62319176
fetus51 / 56401290
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult143 / 193912173
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor9 / 9417895
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor7 / 26384526
glioma4 / 10688337
head and neck tumor11 / 13630280
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma5 / 7175569
non-neoplasia3 / 9725030
normal243 / 336030772
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood6 / 12347848
bone0 / 716550 
bone marrow2 / 4880140
brain65 / 110098959
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus0 / 202090 
eye18 / 21105485
heart6 / 8962666
intestine10 / 23447242
kidney7 / 21177733
larynx5 / 24145207
liver15 / 20774372
lung14 / 33697441
lymph1 / 4427022
lymph node17 / 91610185
mammary gland18 / 153271117
mouth2 / 6705229
muscle9 / 10771583
nerve2 / 15768126
ovary4 / 10205139
pancreas18 / 21481283
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta20 / 28082571
prostate8 / 18934542
salivary gland0 / 201550 
skin4 / 21057418
spleen2 / 5395237
stomach5 / 9661951
testis14 / 33044242
thymus3 / 8113136
thyroid6 / 47473126
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221763_at
Cell line Expression level Expression bar
721_B_lymphoblasts32.3
Adipocyte14.75
AdrenalCortex26.4
Adrenalgland13.35
Amygdala44.55
Appendix34.6
AtrioventricularNode23.05
BDCA4+_DentriticCells73.25
Bonemarrow18
BronchialEpithelialCells16.05
CD105+_Endothelial20.4
CD14+_Monocytes69.45
CD19+_BCells(neg._sel.)142
CD33+_Myeloid177.25
CD34+20.75
CD4+_Tcells104.95
CD56+_NKCells24.65
CD71+_EarlyErythroid19.45
CD8+_Tcells108.85
CardiacMyocytes39.6
Caudatenucleus20.2
Cerebellum14.45
CerebellumPeduncles34.3
CiliaryGanglion19
CingulateCortex21.15
Colorectaladenocarcinoma17.15
DorsalRootGanglion15.4
FetalThyroid32.85
Fetalbrain103
Fetalliver24.85
Fetallung52.65
GlobusPallidus16.6
Heart31.05
Hypothalamus39.7
Kidney13.65
Leukemia_chronicMyelogenousK-56221.25
Leukemia_promyelocytic-HL-6017.55
Leukemialymphoblastic(MOLT-4)16.4
Liver26.05
Lung14.55
Lymphnode61.3
Lymphoma_burkitts(Daudi)52.7
Lymphoma_burkitts(Raji)28.8
MedullaOblongata18.3
OccipitalLobe32.05
OlfactoryBulb20.35
Ovary14.1
Pancreas17.35
PancreaticIslet63.95
ParietalLobe21.3
Pituitary24.45
Placenta12.05
Pons19.25
PrefrontalCortex32.95
Prostate18.05
Salivarygland23.5
SkeletalMuscle29.55
Skin22.5
SmoothMuscle23.75
Spinalcord25.7
SubthalamicNucleus20.1
SuperiorCervicalGanglion23.85
TemporalLobe19.25
Testis10.55
TestisGermCell32.5
TestisIntersitial21
TestisLeydigCell23.85
TestisSeminiferousTubule23.25
Thalamus26.45
Thymus10.6
Thyroid55
Tongue22.25
Tonsil22.05
Trachea14.2
TrigeminalGanglion23.25
Uterus162.6
UterusCorpus29.75
WholeBlood348.6
Wholebrain13.1
colon17.5
pineal_day89.94
pineal_night91.48
retina17.6
small_intestine18.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P300301
  • 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
Amygdala8.9 ± 0.29
Basal Forebrain8.78 ± 0.23
Basal Part of Pons8.71 ± 0.28
Cerebellar Cortex9.28 ± 0.2
Cerebellar Nuclei8.7 ± 0.25
Claustrum9.14 ± 0.37
Epithalamus8.85 ± 0.12
Frontal Lobe8.75 ± 0.26
Globus Pallidus8.85 ± 0.27
Hypothalamus8.6 ± 0.28
Insula8.81 ± 0.18
Limbic Lobe8.99 ± 0.37
Mesencephalon8.75 ± 0.31
Myelencephalon8.87 ± 0.28
Occipital Lobe9.27 ± 0.36
Parietal Lobe8.9 ± 0.26
Pontine Tegmentum8.86 ± 0.28
Striatum8.92 ± 0.33
Subthalamus8.85 ± 0.1
Temporal Lobe8.82 ± 0.29
Thalamus8.85 ± 0.24
White Matter9.15 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Jmjd1cCBCerebellum100
100
Jmjd1cCTXCerebral cortex100
93.2
Jmjd1cHIPHippocampal region68.91
100
Jmjd1cHPFHippocampal formation77.49
91.37
Jmjd1cHYHypothalamus24.58
18.7
Jmjd1cLSXLateral septal complex41.52
28.92
Jmjd1cMBMidbrain37.62
33.46
Jmjd1cMYMedulla44.64
46.04
Jmjd1cOLFOlfactory bulb90.5
82.88
Jmjd1cPPons34.08
32.57
Jmjd1cPALPallidum39.99
34.41
Jmjd1cRHPRetrohippocampal region93.96
80.55
Jmjd1csAMYStriatum-like amygdalar nuclei45.76
32.44
Jmjd1cSTRStriatum70.68
52.7
Jmjd1cSTRdStriatum dorsal region76.38
57.59
Jmjd1cSTRvStriatum ventral region75.42
55.34
Jmjd1cTHThalamus37.44
32.94
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
JHD2C_HUMAN_0 0 0 0 INVKPELKEEPEESIISAVDENNKLYSDIPHSWICEK 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