Gene Information
|
Gene Name
|
ALMS1 |
|
Gene ID
|
7840
|
|
Gene Full Name
|
ALMS1 centrosome and basal body associated protein |
|
Gene Alias
|
ALSS |
|
Transcripts
|
ENSG00000116127
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Centrosome, Cytosol;Nucleoplasm, Microtubules, Mitochondria, Basal body, End piece;
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted intracellular proteins |
|
Uniport_ID
|
Q8TCU4
|
|
HGNC ID
|
HGNC:428
|
|
OMIM ID
|
606844 |
|
Summary
|
This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014] |
Target gene [ALMS1] related to VISs
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6020927 |
chr2 |
4 |
2 |
0 |
6 |
View |
| 6027676 |
chr2 |
0 |
1 |
1 |
2 |
View |
Target gene [ALMS1] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - ALMS1 peak across samples
|
Peak Plot
|
|
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