AutismKB 2.0

Annotation Detail for ANO5


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Basic Information Top
Gene Symbol:ANO5 ( GDD1,LGMD2L,TMEM16E )
Gene Full Name: anoctamin 5
Band: 11p14.3
Quick LinksEntrez ID:203859; OMIM: 608662; Uniprot ID:ANO5_HUMAN; ENSEMBL ID: ENSG00000171714; HGNC ID: 27337
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 body0 / 707610 
blastocyst0 / 623190 
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult11 / 19391215
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal48 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue0 / 1492550 
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye3 / 21105414
heart3 / 8962633
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver4 / 20774319
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle7 / 10771564
nerve0 / 157680 
ovary0 / 1020510 
pancreas7 / 21481232
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach1 / 9661910
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15860_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
Amygdala6.8 ± 0.51
Basal Forebrain6.48 ± 0.59
Basal Part of Pons6.18 ± 0.46
Cerebellar Cortex5.78 ± 0.57
Cerebellar Nuclei6.2 ± 0.71
Claustrum6.62 ± 0.83
Epithalamus5.76 ± 0.6
Frontal Lobe6.51 ± 0.7
Globus Pallidus6.94 ± 0.41
Hypothalamus6.4 ± 0.42
Insula6.3 ± 0.61
Limbic Lobe6.98 ± 0.7
Mesencephalon6.64 ± 0.78
Myelencephalon6.57 ± 0.6
Occipital Lobe7.26 ± 0.38
Parietal Lobe6.94 ± 0.55
Pontine Tegmentum6.64 ± 0.7
Striatum6.36 ± 0.76
Subthalamus6.25 ± 1.26
Temporal Lobe6.56 ± 0.6
Thalamus6.64 ± 0.5
White Matter4.47 ± 1.69
Mouse Brain ISH
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