AutismKB 2.0

Annotation Detail for ANKRD52


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Basic Information Top
Gene Symbol:ANKRD52 ( ANKRD33,FLJ34236 )
Gene Full Name: ankyrin repeat domain 52
Band: 12q13.3
Quick LinksEntrez ID:283373; OMIM: NA; Uniprot ID:ANR52_HUMAN; ENSEMBL ID: ENSG00000139645; HGNC ID: 26614
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
blastocyst1 / 6231916
fetus16 / 56401228
neonate3 / 3109796
infant0 / 236200 
juvenile1 / 5555617
adult62 / 193912131
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) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor4 / 26384515
glioma3 / 10688328
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal72 / 336030721
ovarian tumor6 / 7668278
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer9 / 10268087
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain30 / 110098927
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye12 / 21105456
heart2 / 8962622
intestine14 / 23447259
kidney4 / 21177718
larynx1 / 2414541
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node1 / 9161010
mammary gland8 / 15327152
mouth3 / 6705244
muscle1 / 1077159
nerve1 / 1576863
ovary6 / 10205158
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate12 / 18934563
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach5 / 9661951
testis5 / 33044215
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord10 / 13680730
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P172600
  • 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
Amygdala2.17 ± 0.98
Basal Forebrain2.02 ± 0.4
Basal Part of Pons1.98 ± 0.67
Cerebellar Cortex1.57 ± 0.78
Cerebellar Nuclei2.2 ± 0.7
Claustrum2.49 ± 0.97
Epithalamus1.4 ± 0.71
Frontal Lobe1.85 ± 0.77
Globus Pallidus1.98 ± 0.56
Hypothalamus1.6 ± 0.37
Insula2.03 ± 0.8
Limbic Lobe1.95 ± 0.82
Mesencephalon2 ± 0.87
Myelencephalon1.95 ± 0.77
Occipital Lobe1.93 ± 0.88
Parietal Lobe1.99 ± 0.84
Pontine Tegmentum1.83 ± 0.78
Striatum2.11 ± 0.97
Subthalamus1.65 ± 1.16
Temporal Lobe1.76 ± 0.81
Thalamus2.04 ± 0.64
White Matter2.55 ± 0.75
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ankrd52CBCerebellum70.7
100
Ankrd52CTXCerebral cortex92.62
69.73
Ankrd52HIPHippocampal region53.27
70.83
Ankrd52HPFHippocampal formation60.28
66.05
Ankrd52HYHypothalamus44.25
35.14
Ankrd52LSXLateral septal complex56.46
42.12
Ankrd52MBMidbrain48.1
45.36
Ankrd52MYMedulla39.98
47.22
Ankrd52OLFOlfactory bulb91.9
82.47
Ankrd52PPons40.52
45.36
Ankrd52PALPallidum43.18
39.74
Ankrd52RHPRetrohippocampal region74.7
61.35
Ankrd52sAMYStriatum-like amygdalar nuclei65.27
48.51
Ankrd52STRStriatum55
41.65
Ankrd52STRdStriatum dorsal region51.05
39.03
Ankrd52STRvStriatum ventral region62.73
45.19
Ankrd52THThalamus65.18
55.79
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ANR52_HUMAN_2 18 2 19 GILSITDQPPLVQAIFSR PRIDE
PAp00005987 10 926 935 NTALHLACSK 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