Gene Page: ALMS1

Summary ?
GeneID7840
SymbolALMS1
SynonymsALSS
DescriptionALMS1, centrosome and basal body associated protein
ReferenceMIM:606844|HGNC:HGNC:428|Ensembl:ENSG00000116127|HPRD:06023|Vega:OTTHUMG00000152812
Gene typeprotein-coding
Map location2p13
Pascal p-value4.003E-6
Sherlock p-value1.106E-6
TADA p-value0.007
Fetal beta1.795
eGeneMyers' cis & trans
Meta
SupportCompositeSet
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
ExpressionMeta-analysis of gene expressionP value: 1.429 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
ALMS1chr273717739CTNM_015120p.2884R>*nonsenseSchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs12478346chr273584359ALMS178401.593E-4cis
rs6720094chr273588075ALMS178408.237E-6cis
rs7574291chr273594940ALMS178405.802E-4cis
rs6747145chr273609176ALMS178404.238E-4cis
rs7598396chr273652627ALMS178407.426E-6cis
rs6753344chr273653137ALMS178408.456E-6cis
rs1083922chr273704002ALMS178402.119E-5cis
rs7607014chr273730173ALMS178401.293E-6cis
rs7598660chr273740424ALMS178403.845E-5cis
rs11688718chr273760938ALMS178402.709E-5cis
rs7566315chr273791807ALMS178407.532E-5cis
rs10190002chr273794053ALMS178407.367E-6cis
rs7607892chr273818706ALMS178402.375E-6cis
rs13391552chr273818935ALMS178408.631E-7cis
rs6710438chr273820107ALMS178401.508E-6cis
rs4346412chr273843570ALMS178401.223E-5cis
rs4852939chr273856768ALMS178409.194E-6cis
rs4852316chr273919657ALMS178405.659E-5cis
rs17350056chr273922876ALMS178405.473E-4cis
rs12052539chr273937152ALMS178405.883E-5cis
rs1806683chr273939811ALMS178400cis
rs11894953chr273964630ALMS178400cis
rs17350188chr273964841ALMS178409.766E-4cis
rs12624267chr273986930ALMS178405.481E-4cis
rs12478346chr273584359ALMS178400.02trans
rs6720094chr273588075ALMS178400trans
rs7574291chr273594940ALMS178400.04trans
rs6747145chr273609176ALMS178400.03trans
rs7598396chr273652627ALMS178400trans
rs6753344chr273653137ALMS178400trans
rs1083922chr273704002ALMS178400trans
rs7607014chr273730173ALMS178402.353E-4trans
rs7598660chr273740424ALMS178400trans
rs11688718chr273760938ALMS178400trans
rs7566315chr273791807ALMS178400.01trans
rs10190002chr273794053ALMS178400trans
rs7607892chr273818706ALMS178404.118E-4trans
rs13391552chr273818935ALMS178401.631E-4trans
rs6710438chr273820107ALMS178402.732E-4trans
rs4346412chr273843570ALMS178400trans
rs4852939chr273856768ALMS178400trans
rs4852316chr273919657ALMS178400.01trans
rs17350056chr273922876ALMS178400.04trans
rs12052539chr273937152ALMS178400.01trans
rs1806683chr273939811ALMS178400.09trans
rs17350188chr273964841ALMS178400.07trans
rs12624267chr273986930ALMS178400.04trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003674molecular_functionND-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007605sensory perception of soundIEA-
GO:0007601visual perceptionIEA-
GO:0050896response to stimulusIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005813centrosomeIDA15855349 
GO:0005737cytoplasmIEA-
GO:0005929ciliumIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE MITOTIC 325185All SZGR 2.0 genes in this pathway
REACTOME RECRUITMENT OF MITOTIC CENTROSOME PROTEINS AND COMPLEXES 6643All SZGR 2.0 genes in this pathway
REACTOME LOSS OF NLP FROM MITOTIC CENTROSOMES 5938All SZGR 2.0 genes in this pathway
REACTOME MITOTIC G2 G2 M PHASES 8150All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING DN 4629All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS DN 463290All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805505All SZGR 2.0 genes in this pathway
CHEBOTAEV GR TARGETS DN 12073All SZGR 2.0 genes in this pathway
LIU COMMON CANCER GENES 7947All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT UP 390242All SZGR 2.0 genes in this pathway
SU PANCREAS 5430All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298200All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504323All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 6HR DN 160101All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953554All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911527All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR UP 783442All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011592All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728415All SZGR 2.0 genes in this pathway
TOYOTA TARGETS OF MIR34B AND MIR34C 463262All SZGR 2.0 genes in this pathway
SPIRA SMOKERS LUNG CANCER DN 2211All SZGR 2.0 genes in this pathway
VANASSE BCL2 TARGETS UP 4025All SZGR 2.0 genes in this pathway
LEE DIFFERENTIATING T LYMPHOCYTE 200115All SZGR 2.0 genes in this pathway
ROME INSULIN TARGETS IN MUSCLE DN 204114All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 30MIN DN 15099All SZGR 2.0 genes in this pathway
PANGAS TUMOR SUPPRESSION BY SMAD1 AND SMAD5 DN 157106All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080713All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517302All SZGR 2.0 genes in this pathway