AutismKB 2.0

Annotation Detail for ZNF248


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Basic Information Top
Gene Symbol:ZNF248 ( KIAA0137,MGC131882,bA162G10.3 )
Gene Full Name: zinc finger protein 248
Band: 10p11.21
Quick LinksEntrez ID:57209; OMIM: NA; Uniprot ID:ZN248_HUMAN; ENSEMBL ID: ENSG00000198105; HGNC ID: 13041
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
blastocyst0 / 623190 
fetus31 / 56401254
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult44 / 193912122
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor7 / 26384526
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal111 / 336030733
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone5 / 7165569
bone marrow0 / 488010 
brain63 / 110098957
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye5 / 21105423
heart3 / 8962633
intestine8 / 23447234
kidney4 / 21177718
larynx0 / 241450 
liver2 / 2077439
lung7 / 33697420
lymph0 / 442700 
lymph node3 / 9161032
mammary gland0 / 1532710 
mouth4 / 6705259
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta1 / 2808253
prostate4 / 18934521
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach1 / 9661910
testis10 / 33044230
thymus5 / 8113161
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213269_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.75
Adipocyte9.25
AdrenalCortex9.45
Adrenalgland7.55
Amygdala8.95
Appendix9.55
AtrioventricularNode7.9
BDCA4+_DentriticCells8.5
Bonemarrow8
BronchialEpithelialCells7.7
CD105+_Endothelial8.25
CD14+_Monocytes8.8
CD19+_BCells(neg._sel.)8.75
CD33+_Myeloid10.45
CD34+22.55
CD4+_Tcells16.85
CD56+_NKCells9.9
CD71+_EarlyErythroid8.1
CD8+_Tcells10.65
CardiacMyocytes12.1
Caudatenucleus7.65
Cerebellum7
CerebellumPeduncles11.95
CiliaryGanglion6.55
CingulateCortex11.55
Colorectaladenocarcinoma8.25
DorsalRootGanglion11.65
FetalThyroid9.35
Fetalbrain22.05
Fetalliver7.4
Fetallung6.85
GlobusPallidus7.25
Heart12.65
Hypothalamus17.05
Kidney6.65
Leukemia_chronicMyelogenousK-5627.5
Leukemia_promyelocytic-HL-607.25
Leukemialymphoblastic(MOLT-4)6.55
Liver12.3
Lung9.1
Lymphnode7.45
Lymphoma_burkitts(Daudi)11.25
Lymphoma_burkitts(Raji)13.05
MedullaOblongata7.75
OccipitalLobe8.35
OlfactoryBulb6.6
Ovary6.45
Pancreas7.05
PancreaticIslet9.1
ParietalLobe11.2
Pituitary15.75
Placenta7.65
Pons8.75
PrefrontalCortex18.3
Prostate9.6
Salivarygland7.05
SkeletalMuscle11.25
Skin8.2
SmoothMuscle9.55
Spinalcord8.9
SubthalamicNucleus8.3
SuperiorCervicalGanglion10
TemporalLobe9.6
Testis6.9
TestisGermCell6.9
TestisIntersitial7.35
TestisLeydigCell8.65
TestisSeminiferousTubule7.3
Thalamus9.15
Thymus5.85
Thyroid10.75
Tongue9.15
Tonsil8.4
Trachea6.55
TrigeminalGanglion11.45
Uterus11.95
UterusCorpus8.25
WholeBlood9
Wholebrain6.85
colon7.7
pineal_day30.94
pineal_night39.04
retina10.1
small_intestine7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P419276
  • 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
Amygdala4.48 ± 0.75
Basal Forebrain4.51 ± 0.44
Basal Part of Pons4.79 ± 0.48
Cerebellar Cortex4.79 ± 0.36
Cerebellar Nuclei4.43 ± 0.53
Claustrum4.19 ± 0.78
Epithalamus4.76 ± 0.46
Frontal Lobe4.79 ± 0.43
Globus Pallidus4.02 ± 0.4
Hypothalamus5.06 ± 0.46
Insula4.95 ± 0.44
Limbic Lobe4.48 ± 0.6
Mesencephalon4.64 ± 0.57
Myelencephalon4.52 ± 0.52
Occipital Lobe4.22 ± 0.69
Parietal Lobe4.66 ± 0.48
Pontine Tegmentum4.64 ± 0.58
Striatum4.06 ± 0.58
Subthalamus5.02 ± 0.2
Temporal Lobe4.81 ± 0.4
Thalamus4.55 ± 0.54
White Matter4.04 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Zfp248CBCerebellum21.08
26.35
Zfp248CTXCerebral cortex9.82
7.63
Zfp248HIPHippocampal region10.34
12.26
Zfp248HPFHippocampal formation9.05
9.52
Zfp248HYHypothalamus3.99
3.63
Zfp248LSXLateral septal complex1.6
1.2
Zfp248MBMidbrain6.54
6.81
Zfp248MYMedulla8.69
9.7
Zfp248OLFOlfactory bulb14.34
13.41
Zfp248PPons6.03
7.1
Zfp248PALPallidum3.95
3.31
Zfp248RHPRetrohippocampal region6.78
5.76
Zfp248sAMYStriatum-like amygdalar nuclei5.73
4.26
Zfp248STRStriatum3.51
2.69
Zfp248STRdStriatum dorsal region2.5
2.13
Zfp248STRvStriatum ventral region6.95
4.48
Zfp248THThalamus7.04
5.67
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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