AutismKB 2.0

Annotation Detail for ZNF48


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Basic Information Top
Gene Symbol:ZNF48 ( DKFZp762K013,FLJ31751,MGC43952,ZNF553 )
Gene Full Name: zinc finger protein 48
Band: 16p11.2
Quick LinksEntrez ID:197407; OMIM: NA; Uniprot ID:ZNF48_HUMAN; ENSEMBL ID: ENSG00000180035; HGNC ID: 13114
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
blastocyst2 / 6231932
fetus13 / 56401223
neonate0 / 310970 
infant2 / 2362084
juvenile1 / 5555617
adult20 / 193912110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal44 / 336030713
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer7 / 10268068
retinoblastoma1 / 4635621
skin tumor9 / 12494972
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain19 / 110098917
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye2 / 2110549
heart3 / 8962633
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver3 / 20774314
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate10 / 18934552
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8500_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
Amygdala5.53 ± 0.58
Basal Forebrain5.33 ± 0.35
Basal Part of Pons5.21 ± 0.5
Cerebellar Cortex4.87 ± 0.43
Cerebellar Nuclei5.2 ± 0.5
Claustrum5.85 ± 0.72
Epithalamus4.87 ± 0.34
Frontal Lobe5.1 ± 0.58
Globus Pallidus5.81 ± 0.23
Hypothalamus4.91 ± 0.76
Insula4.99 ± 0.46
Limbic Lobe5.39 ± 0.59
Mesencephalon5.26 ± 0.55
Myelencephalon5.3 ± 0.61
Occipital Lobe5.21 ± 0.6
Parietal Lobe5.16 ± 0.57
Pontine Tegmentum5.07 ± 0.54
Striatum5.32 ± 0.56
Subthalamus5.36 ± 0.3
Temporal Lobe5.13 ± 0.54
Thalamus5.16 ± 0.51
White Matter5.73 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Zfp553CBCerebellum70.86
100
Zfp553CTXCerebral cortex100
100
Zfp553HIPHippocampal region71.9
100
Zfp553HPFHippocampal formation83.18
100
Zfp553HYHypothalamus51.2
46.81
Zfp553LSXLateral septal complex61.94
46.93
Zfp553MBMidbrain64.01
64.56
Zfp553MYMedulla79.23
100
Zfp553OLFOlfactory bulb98.65
100
Zfp553PPons69.53
86.71
Zfp553PALPallidum50.1
48.1
Zfp553RHPRetrohippocampal region100
97.78
Zfp553sAMYStriatum-like amygdalar nuclei100
97.88
Zfp553STRStriatum72
60.33
Zfp553STRdStriatum dorsal region70.57
59.71
Zfp553STRvStriatum ventral region69.3
54.26
Zfp553THThalamus76.18
74.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00097186 15 324 338 VHTGEKPYLCPECGK 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