AutismKB 2.0

Annotation Detail for ALMS1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ALMS1 ( ALSS,DKFZp686A118,DKFZp686D1828,KIAA0328 )
Gene Full Name: Alstrom syndrome 1
Band: 2p13.1
Quick LinksEntrez ID:7840; OMIM: 606844; Uniprot ID:ALMS1_HUMAN; ENSEMBL ID: ENSG00000116127; HGNC ID: 428
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
fetus23 / 56401240
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult61 / 193912131
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma4 / 17475228
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor6 / 26384522
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal97 / 336030728
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
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 tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder4 / 29757134
blood0 / 1234780 
bone4 / 7165555
bone marrow0 / 488010 
brain20 / 110098918
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye11 / 21105452
heart1 / 8962611
intestine3 / 23447212
kidney9 / 21177742
larynx1 / 2414541
liver3 / 20774314
lung10 / 33697429
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth4 / 6705259
muscle6 / 10771555
nerve0 / 157680 
ovary3 / 10205129
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach2 / 9661920
testis32 / 33044296
thymus2 / 8113124
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214221_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.9
Adipocyte8.15
AdrenalCortex9.3
Adrenalgland7
Amygdala11.25
Appendix13.75
AtrioventricularNode6.45
BDCA4+_DentriticCells10.75
Bonemarrow8.55
BronchialEpithelialCells7.2
CD105+_Endothelial11.65
CD14+_Monocytes8.65
CD19+_BCells(neg._sel.)8.3
CD33+_Myeloid15.25
CD34+12.25
CD4+_Tcells9.1
CD56+_NKCells15.2
CD71+_EarlyErythroid8.35
CD8+_Tcells16.7
CardiacMyocytes13.85
Caudatenucleus7.3
Cerebellum6.55
CerebellumPeduncles9.65
CiliaryGanglion7.65
CingulateCortex8.6
Colorectaladenocarcinoma8.5
DorsalRootGanglion7.2
FetalThyroid8.65
Fetalbrain16.55
Fetalliver7.3
Fetallung6.45
GlobusPallidus6.85
Heart10.8
Hypothalamus9.8
Kidney7
Leukemia_chronicMyelogenousK-5627.4
Leukemia_promyelocytic-HL-607.45
Leukemialymphoblastic(MOLT-4)6.8
Liver11.8
Lung8.65
Lymphnode8.3
Lymphoma_burkitts(Daudi)10.7
Lymphoma_burkitts(Raji)14.75
MedullaOblongata7.7
OccipitalLobe7.1
OlfactoryBulb6.5
Ovary5.8
Pancreas7.3
PancreaticIslet8.7
ParietalLobe9.55
Pituitary8.95
Placenta7.35
Pons8.25
PrefrontalCortex10.75
Prostate10.95
Salivarygland6.85
SkeletalMuscle11.1
Skin11.05
SmoothMuscle9.4
Spinalcord8.95
SubthalamicNucleus7.65
SuperiorCervicalGanglion13.75
TemporalLobe8.15
Testis6.8
TestisGermCell8.65
TestisIntersitial6.95
TestisLeydigCell10.1
TestisSeminiferousTubule7.2
Thalamus8.55
Thymus5.85
Thyroid11.45
Tongue8.95
Tonsil8.2
Trachea6.4
TrigeminalGanglion11
Uterus10
UterusCorpus7.55
WholeBlood8.5
Wholebrain6.3
colon8
pineal_day10.38
pineal_night10.04
retina9.925
small_intestine7.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P312179
  • 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
Amygdala6.37 ± 0.32
Basal Forebrain6.17 ± 0.14
Basal Part of Pons5.79 ± 0.25
Cerebellar Cortex6.46 ± 0.25
Cerebellar Nuclei5.82 ± 0.27
Claustrum6.2 ± 0.42
Epithalamus6.78 ± 0.49
Frontal Lobe5.87 ± 0.35
Globus Pallidus6.14 ± 0.45
Hypothalamus5.89 ± 0.41
Insula6.17 ± 0.38
Limbic Lobe6.25 ± 0.49
Mesencephalon6.11 ± 0.41
Myelencephalon6.11 ± 0.41
Occipital Lobe6.55 ± 0.53
Parietal Lobe6.03 ± 0.37
Pontine Tegmentum6.09 ± 0.45
Striatum6.48 ± 0.53
Subthalamus6.1 ± 0.18
Temporal Lobe6.03 ± 0.32
Thalamus5.97 ± 0.3
White Matter6.89 ± 0.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Alms1CBCerebellum8.57
6.81
Alms1CTXCerebral cortex3.73
1.43
Alms1HIPHippocampal region0.95
0.85
Alms1HPFHippocampal formation1.24
0.93
Alms1HYHypothalamus1.88
0.8
Alms1LSXLateral septal complex1.83
0.3
Alms1MBMidbrain2.5
1.2
Alms1MYMedulla17.93
11.1
Alms1OLFOlfactory bulb5.75
3.54
Alms1PPons9.2
5.39
Alms1PALPallidum1.68
0.62
Alms1RHPRetrohippocampal region1.58
0.93
Alms1sAMYStriatum-like amygdalar nuclei1.3
0.34
Alms1STRStriatum0.76
0.34
Alms1STRdStriatum dorsal region0.37
0.22
Alms1STRvStriatum ventral region1.75
0.73
Alms1THThalamus3.32
1.59
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ALMS1_HUMAN_3884 18 3884 3901 GIQAGNLEIVNGAKKHTR PRIDE
ALMS1_HUMAN_788 27 788 814 VSAVAGPADQKTGLPTVPSSAYSHREK PRIDE
PAp00501051 25 53 77 ELDSDSHYGPQHLESIDDEEDEEAK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved