AutismKB 2.0

Annotation Detail for ALS2


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Basic Information Top
Gene Symbol:ALS2 ( ALS2CR6,ALSJ,FLJ31851,IAHSP,KIAA1563,MGC87187,PLSJ )
Gene Full Name: amyotrophic lateral sclerosis 2 (juvenile)
Band: 2q33.1
Quick LinksEntrez ID:57679; OMIM: 606352; Uniprot ID:ALS2_HUMAN; ENSEMBL ID: ENSG00000003393; HGNC ID: 443
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
blastocyst4 / 6231964
fetus33 / 56401258
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult56 / 193912128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor1 / 1193698
germ cell tumor12 / 26384545
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal139 / 336030741
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain51 / 110098946
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus2 / 2020998
eye3 / 21105414
heart3 / 8962633
intestine4 / 23447217
kidney8 / 21177737
larynx0 / 241450 
liver1 / 2077434
lung9 / 33697426
lymph0 / 442700 
lymph node7 / 9161076
mammary gland8 / 15327152
mouth3 / 6705244
muscle6 / 10771555
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate3 / 18934515
salivary gland0 / 201550 
skin17 / 21057480
spleen0 / 539520 
stomach3 / 9661931
testis13 / 33044239
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P222410
  • 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
Amygdala4.42 ± 0.78
Basal Forebrain3.91 ± 0.36
Basal Part of Pons4.19 ± 0.61
Cerebellar Cortex5.04 ± 0.36
Cerebellar Nuclei4.15 ± 0.34
Claustrum4.28 ± 0.86
Epithalamus4.71 ± 0.33
Frontal Lobe4.29 ± 0.51
Globus Pallidus3.59 ± 0.24
Hypothalamus3.82 ± 0.59
Insula4.1 ± 0.59
Limbic Lobe4.41 ± 0.58
Mesencephalon4.31 ± 0.79
Myelencephalon4.24 ± 0.6
Occipital Lobe4.53 ± 0.53
Parietal Lobe4.38 ± 0.64
Pontine Tegmentum4.29 ± 0.6
Striatum3.61 ± 0.58
Subthalamus4.56 ± 0.25
Temporal Lobe4.4 ± 0.6
Thalamus4.15 ± 0.58
White Matter4.01 ± 0.75
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Als2CBCerebellum0
0
Als2CTXCerebral cortex0
0
Als2HIPHippocampal region0
0
Als2HPFHippocampal formation0
0
Als2HYHypothalamus0
0
Als2LSXLateral septal complex0
0
Als2MBMidbrain0
0
Als2MYMedulla0
0
Als2OLFOlfactory bulb0
0
Als2PPons0
0
Als2PALPallidum0
0
Als2RHPRetrohippocampal region0
0
Als2sAMYStriatum-like amygdalar nuclei0
0
Als2STRStriatum0
0
Als2STRdStriatum dorsal region0
0
Als2STRvStriatum ventral region0
0
Als2THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ALS2_HUMAN_1276 5 1276 1280 PKVFR PRIDE

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