AutismKB 2.0

Annotation Detail for ALG12


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Basic Information Top
Gene Symbol:ALG12 ( CDG1G,ECM39,MGC111358,MGC3136,PP14673,hALG12 )
Gene Full Name: asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)
Band: 22q13.33
Quick LinksEntrez ID:79087; OMIM: 607144; Uniprot ID:ALG12_HUMAN; ENSEMBL ID: ENSG00000182858; HGNC ID: 19358
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
blastocyst1 / 6231916
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult64 / 193912133
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma3 / 10688328
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal79 / 336030723
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer7 / 10268068
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood7 / 12347856
bone2 / 7165527
bone marrow2 / 4880140
brain13 / 110098911
cervix8 / 48171166
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye6 / 21105428
heart1 / 8962611
intestine5 / 23447221
kidney5 / 21177723
larynx0 / 241450 
liver3 / 20774314
lung13 / 33697438
lymph0 / 442700 
lymph node2 / 9161021
mammary gland2 / 15327113
mouth1 / 6705214
muscle5 / 10771546
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta8 / 28082528
prostate7 / 18934536
salivary gland1 / 2015549
skin8 / 21057437
spleen0 / 539520 
stomach2 / 9661920
testis0 / 3304420 
thymus2 / 8113124
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218444_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.25
Adipocyte4.6
AdrenalCortex4.45
Adrenalgland3.5
Amygdala4.3
Appendix4.25
AtrioventricularNode3.25
BDCA4+_DentriticCells5.9
Bonemarrow4.1
BronchialEpithelialCells4.05
CD105+_Endothelial4.25
CD14+_Monocytes7.7
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid5.3
CD34+5.35
CD4+_Tcells11.3
CD56+_NKCells5.4
CD71+_EarlyErythroid3.9
CD8+_Tcells5.8
CardiacMyocytes5.5
Caudatenucleus3.7
Cerebellum3.35
CerebellumPeduncles4.7
CiliaryGanglion2.95
CingulateCortex4.2
Colorectaladenocarcinoma4.15
DorsalRootGanglion3.15
FetalThyroid5.35
Fetalbrain4.1
Fetalliver3.55
Fetallung3.6
GlobusPallidus3.05
Heart5.55
Hypothalamus4.35
Kidney3.65
Leukemia_chronicMyelogenousK-5623.75
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)3.4
Liver5.6
Lung4.65
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.3
Lymphoma_burkitts(Raji)5.9
MedullaOblongata3.75
OccipitalLobe3.75
OlfactoryBulb3.25
Ovary3
Pancreas3.35
PancreaticIslet4.45
ParietalLobe4.45
Pituitary5.05
Placenta4.5
Pons3.95
PrefrontalCortex5.1
Prostate7.4
Salivarygland3.35
SkeletalMuscle6.4
Skin3.2
SmoothMuscle4.7
Spinalcord4.45
SubthalamicNucleus3.8
SuperiorCervicalGanglion4.9
TemporalLobe5.85
Testis3.55
TestisGermCell3.4
TestisIntersitial3.45
TestisLeydigCell4.1
TestisSeminiferousTubule3.55
Thalamus4.25
Thymus3.7
Thyroid9.85
Tongue4.1
Tonsil4.05
Trachea4.2
TrigeminalGanglion4.15
Uterus3.35
UterusCorpus3.75
WholeBlood4.6
Wholebrain3.45
colon4.2
pineal_day5.4
pineal_night5.14
retina5.05
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8569_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
Amygdala3.58 ± 0.69
Basal Forebrain3.23 ± 0.61
Basal Part of Pons3.45 ± 0.51
Cerebellar Cortex3.57 ± 0.55
Cerebellar Nuclei3.34 ± 0.5
Claustrum3.67 ± 0.94
Epithalamus3.16 ± 0.53
Frontal Lobe3.45 ± 0.49
Globus Pallidus3.19 ± 0.34
Hypothalamus3.33 ± 0.53
Insula3.38 ± 1.41
Limbic Lobe3.49 ± 0.45
Mesencephalon3.43 ± 0.66
Myelencephalon3.41 ± 0.58
Occipital Lobe3.54 ± 0.43
Parietal Lobe3.4 ± 0.55
Pontine Tegmentum3.36 ± 0.55
Striatum3.16 ± 0.55
Subthalamus3.35 ± 0.29
Temporal Lobe3.37 ± 0.55
Thalamus3.31 ± 0.52
White Matter3.68 ± 0.85
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Alg12CBCerebellum5.91
6.84
Alg12CTXCerebral cortex17.77
12.92
Alg12HIPHippocampal region13.28
12.14
Alg12HPFHippocampal formation10.02
8.53
Alg12HYHypothalamus0.91
0.7
Alg12LSXLateral septal complex0.67
0.47
Alg12MBMidbrain1.71
1.88
Alg12MYMedulla3.04
4.26
Alg12OLFOlfactory bulb11.61
9.27
Alg12PPons2.53
3.3
Alg12PALPallidum3.05
2.82
Alg12RHPRetrohippocampal region4.1
3.11
Alg12sAMYStriatum-like amygdalar nuclei6.85
4.95
Alg12STRStriatum2.39
1.7
Alg12STRdStriatum dorsal region1.6
1.16
Alg12STRvStriatum ventral region3.48
2.23
Alg12THThalamus3.39
2.94
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