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Aliases for ALMS1-IT1 Gene

Subcategory (RNA class) for ALMS1-IT1 Gene

non-coding RNA

Quality Score for this RNA gene is

13

Aliases for ALMS1-IT1 Gene

  • ALMS1 Intronic Transcript 1 2 3 5
  • ALMS1 Intronic Transcript 1 (Non-Protein Coding) 2 3

External Ids for ALMS1-IT1 Gene

Previous GeneCards Identifiers for ALMS1-IT1 Gene

  • GC00U933249
  • GC02P073685

Summaries for ALMS1-IT1 Gene

GeneCards Summary for ALMS1-IT1 Gene

ALMS1-IT1 (ALMS1 Intronic Transcript 1) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with ALMS1-IT1 include Alstrom Syndrome.

Additional gene information for ALMS1-IT1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALMS1-IT1 Gene

Genomics for ALMS1-IT1 Gene

GeneHancer (GH) Regulatory Elements for ALMS1-IT1 Gene

Promoters and enhancers for ALMS1-IT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J073895 Enhancer 1.1 Ensembl ENCODE dbSUPER 4.6 +440.0 440031 1.7 EBF1 ATF7 IKZF2 RUNX3 ZNF687 NR2F1 CBFB DPF2 MEF2B REST DGUOK TET3 STAMBP BOLA3 BOLA3-AS1 TPRKB ALMS1-IT1 SMYD5 ACTG2 GC02M073905
GH02J073425 Enhancer 0.3 ENCODE 0.3 -30.4 -30428 2 MYNN ALMS1P1 ALMS1 GNG5P4 ALMS1-IT1
GH02J073417 Enhancer 0.2 ENCODE 0.3 -38.2 -38161 1.4 GNG5P4 ALMS1 NAT8 SMYD5 ALMS1-IT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALMS1-IT1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ALMS1-IT1 Gene

Genomic Locations for ALMS1-IT1 Gene
chr2:73,456,764-73,459,482
(GRCh38/hg38)
Size:
2,719 bases
Orientation:
Plus strand
chr2:73,683,891-73,686,611
(GRCh37/hg19)
Size:
2,721 bases
Orientation:
Plus strand

Genomic View for ALMS1-IT1 Gene

Genes around ALMS1-IT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALMS1-IT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALMS1-IT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALMS1-IT1 Gene

Proteins for ALMS1-IT1 Gene

Post-translational modifications for ALMS1-IT1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ALMS1-IT1 Gene

Domains & Families for ALMS1-IT1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ALMS1-IT1 Gene

Function for ALMS1-IT1 Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ALMS1-IT1 Gene

Localization for ALMS1-IT1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ALMS1-IT1 Gene

Pathways & Interactions for ALMS1-IT1 Gene

SuperPathways for ALMS1-IT1 Gene

No Data Available

Interacting Proteins for ALMS1-IT1 Gene

Gene Ontology (GO) - Biological Process for ALMS1-IT1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ALMS1-IT1 Gene

Drugs & Compounds for ALMS1-IT1 Gene

No Compound Related Data Available

Transcripts for ALMS1-IT1 Gene

mRNA/cDNA for ALMS1-IT1 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
(2) RNA Central transcripts :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALMS1-IT1 Gene

No ASD Table

Relevant External Links for ALMS1-IT1 Gene

GeneLoc Exon Structure for
ALMS1-IT1
ECgene alternative splicing isoforms for
ALMS1-IT1

Expression for ALMS1-IT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALMS1-IT1 Gene

genes like me logo Genes that share expression patterns with ALMS1-IT1: view

No data available for 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALMS1-IT1 Gene

Orthologs for ALMS1-IT1 Gene

Evolution for ALMS1-IT1 Gene

ENSEMBL:
Gene Tree for ALMS1-IT1 (if available)
TreeFam:
Gene Tree for ALMS1-IT1 (if available)

No data available for Orthologs for ALMS1-IT1 Gene

Paralogs for ALMS1-IT1 Gene

No data available for Paralogs for ALMS1-IT1 Gene

Variants for ALMS1-IT1 Gene

Sequence variations from dbSNP and Humsavar for ALMS1-IT1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs878855001 uncertain-significance, Alstrom syndrome 73,455,291(+) C/T upstream_transcript_variant
rs377085127 uncertain-significance, not specified 73,455,180(+) A/G upstream_transcript_variant
rs1001530688 -- 73,457,960(+) G/A non_coding_transcript_variant
rs1002380250 -- 73,458,124(+) T/G non_coding_transcript_variant
rs1002590606 -- 73,459,496(+) T/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ALMS1-IT1 Gene

Variant ID Type Subtype PubMed ID
esv3591260 CNV loss 21293372

Additional Variant Information for ALMS1-IT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALMS1-IT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for ALMS1-IT1 Gene

Disorders for ALMS1-IT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ALMS1-IT1 Gene - From: GeneCards

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

Additional Disease Information for ALMS1-IT1

genes like me logo Genes that share disorders with ALMS1-IT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALMS1-IT1 Gene

Publications for ALMS1-IT1 Gene

No publications were found for ALMS1-IT1 Gene.

Products for ALMS1-IT1 Gene

Sources for ALMS1-IT1 Gene

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