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Aliases for ALMS1P1 Gene

Aliases for ALMS1P1 Gene

  • ALMS1, Centrosome And Basal Body Associated Protein Pseudogene 1 2 3 5
  • Alstrom Syndrome 1 Pseudogene 2 3
  • Alstrom Syndrome 1-Like 2
  • ALMS1L 3
  • ALMS1P 3

External Ids for ALMS1P1 Gene

Previous HGNC Symbols for ALMS1P1 Gene

  • ALMS1L
  • ALMS1P

Summaries for ALMS1P1 Gene

GeneCards Summary for ALMS1P1 Gene

ALMS1P1 (ALMS1, Centrosome And Basal Body Associated Protein Pseudogene 1) is a Pseudogene. Diseases associated with ALMS1P1 include Alstrom Syndrome.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALMS1P1 Gene

Genomics for ALMS1P1 Gene

Regulatory Elements for ALMS1P1 Gene

Enhancers for ALMS1P1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F073384 1.4 FANTOM5 ENCODE 17.2 -258.8 -258844 2.3 HDGF MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 ZNF263 SP3 DUSP11 ENSG00000273245 ALMS1P1 DGUOK-AS1 SMYD5 FBXO41 ALMS1 GNG5P4
GH02F073640 1 Ensembl ENCODE 23.5 -4.2 -4219 1.0 GATAD2A ELF3 SAP130 HLF FOXA3 CEBPB CEBPG RARA YY1 MIER3 ALMS1P1 TPRKB FBXO41 NAT8 GC02P073640 GC02P073585
GH02F073776 1.1 Ensembl ENCODE 14.9 +132.4 132363 1.2 PKNOX1 INSM2 KLF17 ZEB1 ZNF121 ZNF366 SCRT2 FOS EGR2 ZNF362 ALMS1P1 TPRKB BOLA3 BOLA3-AS1 DUSP11 ENSG00000280037
GH02F074513 1.2 Ensembl ENCODE 10.9 +870.3 870314 3.0 PKNOX1 ATF1 MLX ARID4B SIN3A FOS DEK NFYC ZHX2 REST LBX2 WBP1 PCGF1 ALMS1P1 MRPL53 CCDC142 C2orf81 TLX2 DQX1
GH02F073642 0.9 Ensembl 12.1 -2.2 -2219 0.6 ELF3 MLX ARID4B THRB ZNF48 RARA YY1 MIXL1 THAP11 SP5 ALMS1P1 TPRKB FBXO41 NAT8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALMS1P1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALMS1P1 Gene

Chromosome:
2
Start:
73,644,919 bp from pter
End:
73,685,576 bp from pter
Size:
40,658 bases
Orientation:
Plus strand

Genomic View for ALMS1P1 Gene

Genes around ALMS1P1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALMS1P1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALMS1P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALMS1P1 Gene

Proteins for ALMS1P1 Gene

Post-translational modifications for ALMS1P1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ALMS1P1 Gene

Domains & Families for ALMS1P1 Gene

Suggested Antigen Peptide Sequences for ALMS1P1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains and UniProtKB/Swiss-Prot for ALMS1P1 Gene

Function for ALMS1P1 Gene

Phenotypes for ALMS1P1 Gene

genes like me logo Genes that share phenotypes with ALMS1P1: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ALMS1P1 Gene

Localization for ALMS1P1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for ALMS1P1 Gene

Pathways & Interactions for ALMS1P1 Gene

SuperPathways for ALMS1P1 Gene

No Data Available

Interacting Proteins for ALMS1P1 Gene

Gene Ontology (GO) - Biological Process for ALMS1P1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ALMS1P1 Gene

Transcripts for ALMS1P1 Gene

mRNA/cDNA for ALMS1P1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALMS1P1 Gene

Alstrom syndrome 1 pseudogene:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALMS1P1 Gene

No ASD Table

Relevant External Links for ALMS1P1 Gene

GeneLoc Exon Structure for
ALMS1P1
ECgene alternative splicing isoforms for
ALMS1P1

Expression for ALMS1P1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALMS1P1 Gene:

ALMS1P1

SOURCE GeneReport for Unigene cluster for ALMS1P1 Gene:

Hs.745426
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ALMS1P1 Gene

Orthologs for ALMS1P1 Gene

Evolution for ALMS1P1 Gene

ENSEMBL:
Gene Tree for ALMS1P1 (if available)
TreeFam:
Gene Tree for ALMS1P1 (if available)

No data available for Orthologs for ALMS1P1 Gene

Paralogs for ALMS1P1 Gene

No data available for Paralogs for ALMS1P1 Gene

Variants for ALMS1P1 Gene

Sequence variations from dbSNP and Humsavar for ALMS1P1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10168931 -- 73,650,092(+) aactg(A/G)tcaaa intron-variant
rs10171556 -- 73,661,291(+) cttgg(C/G)tcact intron-variant
rs10175787 -- 73,652,234(+) CCCTG(G/T)ACTTA intron-variant
rs10182082 -- 73,664,830(+) tcatc(C/G)ttttt intron-variant
rs10184360 -- 73,670,561(+) gaaat(C/G)accta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALMS1P1 Gene

Variant ID Type Subtype PubMed ID
nsv979022 CNV duplication 23825009
nsv834260 CNV gain 17160897
nsv829461 CNV gain 20364138
nsv829460 CNV gain 20364138
nsv818047 CNV gain 17921354
nsv818046 CNV loss 17921354
nsv818044 CNV gain 17921354
nsv582210 CNV loss 21841781
nsv582209 CNV gain 21841781
nsv515605 CNV loss 19592680
nsv478677 CNV novel sequence insertion 20440878
nsv441760 CNV gain 18776908
nsv436746 CNV insertion 17901297
esv3892670 CNV gain 25118596
esv3591268 CNV loss 21293372
esv3591267 CNV gain 21293372
esv3591266 CNV loss 21293372
esv3591265 CNV loss 21293372
esv3583865 CNV loss 25503493
esv3558567 CNV deletion 23714750
esv34157 CNV loss 18971310
esv2762675 CNV gain 21179565
esv2760600 CNV gain+loss 21179565
esv2759060 CNV gain 17122850
esv2497164 CNV deletion 19546169
dgv707e199 CNV deletion 23128226
dgv3869n100 CNV gain 25217958
dgv3868n100 CNV loss 25217958
dgv3867n100 CNV gain+loss 25217958
dgv3866n100 CNV gain 25217958

Relevant External Links for ALMS1P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALMS1P1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for ALMS1P1 Gene

Disorders for ALMS1P1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ALMS1P1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
alstrom syndrome
  • alström syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ALMS1P1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALMS1P1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALMS1P1
genes like me logo Genes that share disorders with ALMS1P1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALMS1P1 Gene

Publications for ALMS1P1 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  2. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3 64
  3. Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. (PMID: 23535967) Tin A. … Kao W.H. (J. Hum. Genet. 2013) 3 64
  4. Genetic loci influencing kidney function and chronic kidney disease. (PMID: 20383145) Chambers J.C. … Kooner J.S. (Nat. Genet. 2010) 3 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for ALMS1P1 Gene

Sources for ALMS1P1 Gene

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