AutismKB 2.0

Annotation Detail for LOC595101


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Basic Information Top
Gene Symbol:LOC595101 ( - )
Gene Full Name: -
Band: 16p11.2
Quick LinksEntrez ID:595101; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID:
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 
blastocyst1 / 6231916
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult12 / 19391216
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal26 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow0 / 488010 
brain8 / 11009897
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus1 / 2020949
eye0 / 2110540 
heart1 / 8962611
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver1 / 2077434
lung3 / 3369748
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach0 / 966190 
testis2 / 3304426
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
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_P164388
  • 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
Amygdala9.66 ± 0.21
Basal Forebrain9.55 ± 0.05
Basal Part of Pons9.49 ± 0.18
Cerebellar Cortex9.86 ± 0.22
Cerebellar Nuclei9.75 ± 0.18
Claustrum9.74 ± 0.34
Epithalamus9.5 ± 0.25
Frontal Lobe9.59 ± 0.25
Globus Pallidus9.68 ± 0.18
Hypothalamus9.55 ± 0.19
Insula9.66 ± 0.23
Limbic Lobe9.73 ± 0.26
Mesencephalon9.66 ± 0.2
Myelencephalon9.66 ± 0.27
Occipital Lobe9.83 ± 0.25
Parietal Lobe9.61 ± 0.24
Pontine Tegmentum9.65 ± 0.29
Striatum9.56 ± 0.27
Subthalamus9.59 ± 0.11
Temporal Lobe9.65 ± 0.23
Thalamus9.62 ± 0.22
White Matter10.06 ± 0.16
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