AutismKB 2.0

Annotation Detail for ANKRD50


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Basic Information Top
Gene Symbol:ANKRD50 ( KIAA1223 )
Gene Full Name: ankyrin repeat domain 50
Band: 4q28.1
Quick LinksEntrez ID:57182; OMIM: NA; Uniprot ID:ANR50_HUMAN; ENSEMBL ID: ENSG00000151458; HGNC ID: 29223
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 body3 / 7076142
blastocyst0 / 623190 
fetus30 / 56401253
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult61 / 193912131
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal104 / 336030730
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor3 / 12494924
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder2 / 2975767
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain24 / 110098921
cervix0 / 481710 
connective tissue8 / 14925553
ear2 / 16212123
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye5 / 21105423
heart2 / 8962622
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland9 / 15327158
mouth0 / 670520 
muscle6 / 10771555
nerve4 / 15768253
ovary4 / 10205139
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate5 / 18934526
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach1 / 9661910
testis23 / 33044269
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular4 / 5178077
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_223_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
Amygdala8.83 ± 0.25
Basal Forebrain8.96 ± 0.16
Basal Part of Pons8.05 ± 0.2
Cerebellar Cortex8.21 ± 0.29
Cerebellar Nuclei8.78 ± 0.42
Claustrum8.87 ± 0.26
Epithalamus8.33 ± 0.47
Frontal Lobe8.59 ± 0.35
Globus Pallidus8.4 ± 0.4
Hypothalamus8.81 ± 0.44
Insula8.83 ± 0.28
Limbic Lobe8.78 ± 0.4
Mesencephalon8.69 ± 0.52
Myelencephalon8.54 ± 0.39
Occipital Lobe8.19 ± 0.32
Parietal Lobe8.44 ± 0.37
Pontine Tegmentum8.67 ± 0.34
Striatum8.43 ± 0.39
Subthalamus8.52 ± 0.07
Temporal Lobe8.62 ± 0.32
Thalamus8.21 ± 0.28
White Matter7.91 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ankrd50CBCerebellum11.48
12.95
Ankrd50CTXCerebral cortex22.56
16.66
Ankrd50HIPHippocampal region13.67
15.41
Ankrd50HPFHippocampal formation17.13
16.81
Ankrd50HYHypothalamus9.93
8.16
Ankrd50LSXLateral septal complex17.31
13.06
Ankrd50MBMidbrain8.81
9.37
Ankrd50MYMedulla20.2
26
Ankrd50OLFOlfactory bulb35.4
29.63
Ankrd50PPons11.92
14.62
Ankrd50PALPallidum11.3
11.41
Ankrd50RHPRetrohippocampal region22.73
18.79
Ankrd50sAMYStriatum-like amygdalar nuclei10.88
8.82
Ankrd50STRStriatum9.21
7.13
Ankrd50STRdStriatum dorsal region7.54
6.12
Ankrd50STRvStriatum ventral region11.03
7.43
Ankrd50THThalamus9.26
7.58
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