AutismKB 2.0

Annotation Detail for ALS2CL


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ALS2CL ( DKFZp686P238,MGC129698,RN49018 )
Gene Full Name: ALS2 C-terminal like
Band: 3p21.31
Quick LinksEntrez ID:259173; OMIM: 612402; Uniprot ID:AL2CL_HUMAN; ENSEMBL ID: ENSG00000178038; HGNC ID: 20605
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 body1 / 7076114
blastocyst0 / 623190 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult68 / 193912135
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) tumor0 / 941780 
cervical tumor3 / 3436687
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor13 / 13630295
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal69 / 336030720
ovarian tumor5 / 7668265
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain17 / 110098915
cervix7 / 48171145
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine7 / 23447229
kidney6 / 21177728
larynx0 / 241450 
liver2 / 2077439
lung15 / 33697444
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth8 / 67052119
muscle0 / 1077150 
nerve1 / 1576863
ovary7 / 10205168
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta14 / 28082549
prostate8 / 18934542
salivary gland0 / 201550 
skin7 / 21057433
spleen3 / 5395255
stomach3 / 9661931
testis0 / 3304420 
thymus1 / 8113112
thyroid6 / 47473126
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 222333_at
Cell line Expression level Expression bar
721_B_lymphoblasts67.05
Adipocyte73.65
AdrenalCortex86.9
Adrenalgland84.2
Amygdala66.9
Appendix75.65
AtrioventricularNode56.75
BDCA4+_DentriticCells42.9
Bonemarrow80.6
BronchialEpithelialCells77.75
CD105+_Endothelial41.3
CD14+_Monocytes28.45
CD19+_BCells(neg._sel.)42.4
CD33+_Myeloid67.9
CD34+27.45
CD4+_Tcells83.1
CD56+_NKCells56.1
CD71+_EarlyErythroid59.1
CD8+_Tcells60.25
CardiacMyocytes182.25
Caudatenucleus76.85
Cerebellum122.4
CerebellumPeduncles138.6
CiliaryGanglion52.6
CingulateCortex107.1
Colorectaladenocarcinoma96.85
DorsalRootGanglion65.25
FetalThyroid73.8
Fetalbrain62
Fetalliver87.35
Fetallung58.4
GlobusPallidus58.75
Heart146.6
Hypothalamus91.45
Kidney106.75
Leukemia_chronicMyelogenousK-56258.35
Leukemia_promyelocytic-HL-6066.9
Leukemialymphoblastic(MOLT-4)62.05
Liver85.4
Lung52.75
Lymphnode55.6
Lymphoma_burkitts(Daudi)113.65
Lymphoma_burkitts(Raji)126.55
MedullaOblongata75.95
OccipitalLobe72.5
OlfactoryBulb51.85
Ovary50.6
Pancreas64.45
PancreaticIslet72.4
ParietalLobe84.8
Pituitary93.1
Placenta74.25
Pons96.35
PrefrontalCortex98.05
Prostate71.2
Salivarygland74.95
SkeletalMuscle106.8
Skin49.55
SmoothMuscle67.45
Spinalcord95
SubthalamicNucleus92.05
SuperiorCervicalGanglion98.9
TemporalLobe100.7
Testis65.6
TestisGermCell49.2
TestisIntersitial60
TestisLeydigCell75.1
TestisSeminiferousTubule78.35
Thalamus84.65
Thymus59.95
Thyroid75.2
Tongue115.1
Tonsil83.4
Trachea67.25
TrigeminalGanglion74.55
Uterus39.5
UterusCorpus88.4
WholeBlood70.25
Wholebrain62.9
colon92.8
pineal_day62.04
pineal_night56.12
retina125.8
small_intestine108.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P416705
  • 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
Amygdala4.56 ± 0.54
Basal Forebrain4.68 ± 0.38
Basal Part of Pons4.75 ± 0.33
Cerebellar Cortex4.97 ± 0.32
Cerebellar Nuclei4.82 ± 0.69
Claustrum4.52 ± 0.68
Epithalamus4.16 ± 0.49
Frontal Lobe4.52 ± 0.49
Globus Pallidus4.68 ± 0.51
Hypothalamus4.77 ± 0.48
Insula4.66 ± 0.61
Limbic Lobe4.43 ± 0.65
Mesencephalon4.61 ± 0.61
Myelencephalon4.66 ± 0.56
Occipital Lobe4.6 ± 0.43
Parietal Lobe4.84 ± 0.53
Pontine Tegmentum4.56 ± 0.62
Striatum3.92 ± 0.47
Subthalamus4.7 ± 0.74
Temporal Lobe4.54 ± 0.52
Thalamus4.38 ± 0.6
White Matter3.95 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Als2clCBCerebellum11.87
13.22
Als2clCTXCerebral cortex11.3
7.55
Als2clHIPHippocampal region4.58
4.01
Als2clHPFHippocampal formation5.61
4.41
Als2clHYHypothalamus9.49
6.71
Als2clLSXLateral septal complex2.1
2.16
Als2clMBMidbrain7.83
7.17
Als2clMYMedulla20.04
19.19
Als2clOLFOlfactory bulb16.8
12.63
Als2clPPons13.86
12.3
Als2clPALPallidum12.66
9.86
Als2clRHPRetrohippocampal region7.38
4.97
Als2clsAMYStriatum-like amygdalar nuclei12.79
9.37
Als2clSTRStriatum12.25
8.44
Als2clSTRdStriatum dorsal region13.9
9.87
Als2clSTRvStriatum ventral region10.4
5.85
Als2clTHThalamus13.38
10.23
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00096598 17 380 396 NHVGNFCQGLEHGFGIR Peptide Atlas

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