Gene Page:ALMS1

Summary?
GeneID 7840
Symbol ALMS1
Synonyms ALSS
Description ALMS1, centrosome and basal body associated protein
Reference MIM:606844|HGNC:HGNC:428|Ensembl:ENSG00000116127|HPRD:06023|Vega:OTTHUMG00000152812
Gene type protein-coding
Map location 2p13
Pascal p-value 4.003E-6
Sherlock p-value 1.106E-6
TADA p-value 0.007
Fetal beta 1.795
eGene Myers' cis & trans
元
Support CompositeSet
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
Expression 元-analysis of gene expression Pvalue: 1.429

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
ALMS1 chr2 73717739 C T NM_015120 p.2884R>* nonsense Schizophrenia DNM:Fromer_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs12478346 chr2 73584359 ALMS1 7840 1.593E-4 cis
rs6720094 chr2 73588075 ALMS1 7840 8.237E-6 cis
rs7574291 chr2 73594940 ALMS1 7840 5.802E-4 cis
rs6747145 chr2 73609176 ALMS1 7840 4.238E-4 cis
rs7598396 chr2 73652627 ALMS1 7840 7.426E-6 cis
rs6753344 chr2 73653137 ALMS1 7840 8.456E-6 cis
rs1083922 chr2 73704002 ALMS1 7840 2.119E-5 cis
rs7607014 chr2 73730173 ALMS1 7840 1.293E-6 cis
rs7598660 chr2 73740424 ALMS1 7840 3.845E-5 cis
rs11688718 chr2 73760938 ALMS1 7840 2.709E-5 cis
rs7566315 chr2 73791807 ALMS1 7840 7.532E-5 cis
rs10190002 chr2 73794053 ALMS1 7840 7.367E-6 cis
rs7607892 chr2 73818706 ALMS1 7840 2.375E-6 cis
rs13391552 chr2 73818935 ALMS1 7840 8.631E-7 cis
rs6710438 chr2 73820107 ALMS1 7840 1.508E-6 cis
rs4346412 chr2 73843570 ALMS1 7840 1.223E-5 cis
rs4852939 chr2 73856768 ALMS1 7840 9.194E-6 cis
rs4852316 chr2 73919657 ALMS1 7840 5.659E-5 cis
rs17350056 chr2 73922876 ALMS1 7840 5.473E-4 cis
rs12052539 chr2 73937152 ALMS1 7840 5.883E-5 cis
rs1806683 chr2 73939811 ALMS1 7840 0 cis
rs11894953 chr2 73964630 ALMS1 7840 0 cis
rs17350188 chr2 73964841 ALMS1 7840 9.766E-4 cis
rs12624267 chr2 73986930 ALMS1 7840 5.481E-4 cis
rs12478346 chr2 73584359 ALMS1 7840 0.02 trans
rs6720094 chr2 73588075 ALMS1 7840 0 trans
rs7574291 chr2 73594940 ALMS1 7840 0.04 trans
rs6747145 chr2 73609176 ALMS1 7840 0.03 trans
rs7598396 chr2 73652627 ALMS1 7840 0 trans
rs6753344 chr2 73653137 ALMS1 7840 0 trans
rs1083922 chr2 73704002 ALMS1 7840 0 trans
rs7607014 chr2 73730173 ALMS1 7840 2.353E-4 trans
rs7598660 chr2 73740424 ALMS1 7840 0 trans
rs11688718 chr2 73760938 ALMS1 7840 0 trans
rs7566315 chr2 73791807 ALMS1 7840 0.01 trans
rs10190002 chr2 73794053 ALMS1 7840 0 trans
rs7607892 chr2 73818706 ALMS1 7840 4.118E-4 trans
rs13391552 chr2 73818935 ALMS1 7840 1.631E-4 trans
rs6710438 chr2 73820107 ALMS1 7840 2.732E-4 trans
rs4346412 chr2 73843570 ALMS1 7840 0 trans
rs4852939 chr2 73856768 ALMS1 7840 0 trans
rs4852316 chr2 73919657 ALMS1 7840 0.01 trans
rs17350056 chr2 73922876 ALMS1 7840 0.04 trans
rs12052539 chr2 73937152 ALMS1 7840 0.01 trans
rs1806683 chr2 73939811 ALMS1 7840 0.09 trans
rs17350188 chr2 73964841 ALMS1 7840 0.07 trans
rs12624267 chr2 73986930 ALMS1 7840 0.04 trans

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 function GO term Evidence Neuro keywords PubMed ID
GO:0003674 molecular_function ND -
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0007605 sensory perception of sound IEA -
GO:0007601 visual perception IEA -
GO:0050896 response to stimulus IEA -
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0005813 centrosome IDA 15855349
GO:0005737 cytoplasm IEA -
GO:0005929 cilium IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
REACTOME CELL CYCLE 421 253 All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE MITOTIC 325 185 All SZGR 2.0 genes in this pathway
REACTOME RECRUITMENT OF MITOTIC CENTROSOME PROTEINS AND COMPLEXES 66 43 All SZGR 2.0 genes in this pathway
REACTOME LOSS OF NLP FROM MITOTIC CENTROSOMES 59 38 All SZGR 2.0 genes in this pathway
REACTOME MITOTIC G2 G2 M PHASES 81 50 All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING DN 46 29 All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS DN 463 290 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805 505 All SZGR 2.0 genes in this pathway
CHEBOTAEV GR TARGETS DN 120 73 All SZGR 2.0 genes in this pathway
LIU COMMON CANCER GENES 79 47 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT UP 390 242 All SZGR 2.0 genes in this pathway
SU PANCREAS 54 30 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298 200 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 1691 1088 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504 323 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 6HR DN 160 101 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953 554 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911 527 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR UP 783 442 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011 592 All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728 415 All SZGR 2.0 genes in this pathway
TOYOTA TARGETS OF MIR34B AND MIR34C 463 262 All SZGR 2.0 genes in this pathway
SPIRA SMOKERS LUNG CANCER DN 22 11 All SZGR 2.0 genes in this pathway
VANASSE BCL2 TARGETS UP 40 25 All SZGR 2.0 genes in this pathway
LEE DIFFERENTIATING T LYMPHOCYTE 200 115 All SZGR 2.0 genes in this pathway
ROME INSULIN TARGETS IN MUSCLE DN 204 114 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 30MIN DN 150 99 All SZGR 2.0 genes in this pathway
PANGAS TUMOR SUPPRESSION BY SMAD1 AND SMAD5 DN 157 106 All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080 713 All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517 302 All SZGR 2.0 genes in this pathway