AutismKB 2.0

Annotation Detail for NBEAL1


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Basic Information Top
Gene Symbol:NBEAL1 ( A530083I02Rik,ALS2CR16,ALS2CR17,FLJ22838,FLJ26555,MGC164581,MGC168834 )
Gene Full Name: neurobeachin-like 1
Band: 2q33.2
Quick LinksEntrez ID:65065; OMIM: 609816; Uniprot ID:NBEL1_HUMAN; ENSEMBL ID: ENSG00000144426; HGNC ID: 20681
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 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult32 / 193912116
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal49 / 336030714
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine5 / 23447221
kidney6 / 21177728
larynx0 / 241450 
liver2 / 2077439
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach6 / 9661962
testis3 / 3304429
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
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_P109432
  • 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
Amygdala8.04 ± 0.31
Basal Forebrain8.15 ± 0.21
Basal Part of Pons7.51 ± 0.14
Cerebellar Cortex8.2 ± 0.19
Cerebellar Nuclei7.92 ± 0.23
Claustrum7.81 ± 0.28
Epithalamus8.32 ± 0.29
Frontal Lobe7.91 ± 0.28
Globus Pallidus8.51 ± 0.28
Hypothalamus8 ± 0.23
Insula7.97 ± 0.27
Limbic Lobe7.95 ± 0.29
Mesencephalon8.18 ± 0.25
Myelencephalon8.03 ± 0.34
Occipital Lobe8.23 ± 0.31
Parietal Lobe7.86 ± 0.3
Pontine Tegmentum8.07 ± 0.29
Striatum8.53 ± 0.4
Subthalamus8.19 ± 0.04
Temporal Lobe7.89 ± 0.26
Thalamus8.1 ± 0.22
White Matter8.92 ± 0.37
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